Articles

The First Autism Disease Genes
Article Date: 09 Jul 2008- Taken from MedicalNewsToday

The autistic disorder, a neurodevelopmental disease first described in 1943, represents a challenge for treatment and a puzzle for research. Alongside Asperger syndrome, a milder form of the disorder, autism is classified in the continuum of various Autism Spectrum Disorders (ASD), all of which are characterized by deficits in language, social interaction, and a strangely restricted and repetitive behaviour (stereotypy). Disease onset occurs during the first three years of life. The earlier the disorder is diagnosed, the sooner the child can be helped through treatment interventions, but unfortunately detection is often delayed. In a vast majority of cases, no disease causes can be identified.

Recent advances in autism research have been fuelled by an increased interest in genetics, and the latest developments point to genetic factors playing a prominent role in the causes of ASD.

Professor Marion Leboyer of the Psychiatry Genetic Team INSERM and director of the specialized French research foundation for psychiatric disorders, Fondation FondaMental, Paris, will present the compelling neurobiological story of discovering the first autism genes. Thereby she will highlight new findings on the role of gene mutations, their association with synapse abnormalities, and - surprisingly - a connection between circadian rhythms and autism risk. These insights will nurture applied projects on the development of new therapeutic strategies.

Autistic Man, Who Is Also Kidney Transplant Recipient, Found In Woods
Article Date: 23 Jun 2008- Taken from MedicalNewsToday

Keith Kennedy, 25, was found by a firefighter "conscious and alert" about one mile a camp he wandered away from one week ago. Keith is not only autistic, he is also a kidney transplant recipient and is on medication to make sure his kidney is not rejected by his body.

Keith's family were concerned he might not be able to cope without his anti-rejection medication which he has had to take since 1995. Another concern was that while searchers were looking for him and shouting out his name he might not respond - Keith can only utter four words.

On June 15th Keith had disappeared from the Trade Lake Camp, Grantsburg. The camp consisted of 13 campers. They had all just finished their evening meal and were getting ready for bed. Staffers believe Keith went to the cafeteria for popcorn, which he is very partial to. Perhaps he did not get back to his cabin because he feared he might be in trouble for sneaking out, they added.

According to Associated Press, Dean Roland, Burnett Country Sheriff said that Keith is "one tough kid". He added that we will probably never know how he managed to survive.

Keith was found in an area in the woods which is inaccessible to vehicles. Roland said Keith was covered in mosquito bites and ticks when he was found. He was dehydrated and his body temperature was a little low. Fortunately, the elements had been kind to him. Apart from a couple of rain showers, the temperatures in the area ranged from 75 to 80 degrees Fahrenheit (21 to 26 Celcius).

Keith's rescuers calculate he had been in the same spot for about two to three days. The area was covered in dense overgrowth, which probably explained why he was not spotted when searchers had passed the area before.

This is not the first time Keith had gone out on a camp and staffers hed been pretty sure he would not wander off. The search involved hundreds of volunteers, including helicopters and boats.

What is Autism?

Autism spectrum disorders (ASDs) are a group of developmental disabilities that are caused by an abnormality in the brain. People with ASDs tend to have problems with social and communication skills.

People with autism also are likely to repeat specific behaviors and to not want to alter in their daily activities. Many people with ASDs also have unusual ways of learning, paying attention, or reacting to different sensations. ASDs begin during childhood and last throughout a person's life.

What are some of the symptoms of ASDs?

As the name autism spectrum disorder says, ASDs cover a wide range of behaviors and abilities.

People who have ASDs, like all people, differ greatly in the way they act and what they can do. No two people with ASDs will have identical symptoms. A symptom might be slight in one person and acute in another.

Some examples of the types of problems and behaviors a child or adult with an ASD might have:

-- Social skills: People with ASDs might not interrelate with others the way most people do. Some might not be interested in other people at all. People with ASDs might not make eye contact and might just want to be alone. They might have trouble understanding other people's feelings or talking about their own feelings. Children with ASDs might not like to be held or cuddled, or might cuddle only when they want to. Some people with ASDs might not seem to notice when other people try to talk to them. Others might be very interested in people, but not know how to talk, play, or relate to them.

-- Speech, language, and communication: About 40% of children with ASDs do not talk at all. Others have echolalia, which is when they repeat back something that was said to them. The repeated words might be said right away or at a later time. For example, if you ask someone with an ASD, "Do you want some juice?" he or she will repeat "Do you want some juice?" instead of answering your question. Or a person might repeat a television ad heard sometime in the past. People with ASDs might not understand gestures such as waving goodbye. They might say "I" when they mean "you", or vice versa. Their voices might sound flat and it might seem like they cannot control how loudly or softly they talk. People with ASDs might stand too close to the people they are talking to, or might stick with one topic of conversation for too long. Some people with ASDs can speak well and know a lot of words, but have a hard time listening to what other people say. They might talk a lot about something they really like, rather than have a back-and-forth conversation with someone.

-- Repeated behaviors and routines: People with ASDs might repeat actions over and over again. They might want to have routines where things stay the same so they know what to expect. They might have trouble if family routines change. For example, if a child is used to washing his or her face before dressing for bed, he or she might become very upset if asked to change the order and dress first and then wash.

Children with ASDs develop differently from other children. Children without ASDs develop at about the same rate in areas of development such as motor, language, cognitive, and social skills.

Children with ASDs develop at different rates in different areas of growth. They might have large delays in language, social, and cognitive skills, while their motor skills might be about the same as other children their age.

They might be very good at things like putting puzzles together or solving computer problems, but not very good at some things most people think are easy, like talking or making friends.

Children with ASDs might also learn a hard skill before they learn an easy one.

For example, a child might be able to read long words, but not be able to tell you what sound a "b" makes. A child might also learn a skill and then lose it. For example, a child may be able to say many words, but later stop talking altogether.

-- Autism Channel - Medical News Today
-- Autism Society of America
-- National Autistic Society (UK)
-- Autism Society Cananda

Response To The Carers Strategy By The National Autistic Society, UK
Article Date: 11 Jun 2008 - Taken from MedicaNewsToday

 

Whilst The National Autistic Society (NAS) welcomes increased funding for vital support services, such as shortbreak schemes, much more needs to be done to tackle the financial hardship faced by thousands of carers.

Autism is a serious and lifelong condition and caring for someone with the disability is often a full time job. Carer's Allowance is currently woefully inadequate at £50.55 for a 35 hour week - that's £1.44 an hour, well under both the minimum wage and Job Seeker's Allowance. At the NAS we hear from many carers of people with autism who struggle to access even this meagre amount. A lack of understanding of the complexities of autism often means people with the condition fail to qualify for the rate of Disability Living Allowance on which Carer's Allowance depends and so individuals and carers often receive nothing at all.

If the Government is serious about giving carers the recognition and support that they need and deserve, it must make the reform of benefits available to carers a priority. The right support at the right time could transform lives.

-- Autism is a lifelong developmental disability that affects how a person communicates with, and relates to, other people. It also affects how they make sense of the world around them. It is a spectrum condition, which means that, while all people with autism share certain difficulties, their condition will affect them in different ways. Some people with autism are able to live relatively independent lives but others may have accompanying learning disabilities and need a lifetime of specialist support. People with autism may also experience over- or under-sensitivity to sounds, touch, tastes, smells, light or colours.

-- Asperger syndrome is a form of autism. People with Asperger syndrome are often of average or above average intelligence. They have fewer problems with speech but may still have difficulties with understanding and processing language.

The National Autistic Society is the UK's leading charity for people with autistic spectrum disorders and their families. Founded in 1962, it continues to spearhead national and international initiatives and provide a strong voice for all people with autism. The NAS provides a wide range of services to help people with autism and Asperger syndrome live their lives with as much independence as possible.

The NAS relies on the support of its members and donors to continue its vital work for people with autism. To become a member, make a donation or to find out more about the work of the NAS, visit the NAS website http://www.autism.org.ukor call the NAS donation line 08702 33 40 40, (national rates apply). For more information about autism and for help in your area, call the NAS Autism Helpline on: 0845 070 4004 10am-4pm, Monday to Friday, (local rates apply).

The NAS Autism Services Directory is the UK's most comprehensive directory of services and events for people with autism. Visit http://www.autism.org.uk/autismdirectory to find autism services and support networks in your area.

http://www.autism.org.uk

Speaking Up For Others - A New Initiative For People With Profound And Multiple Learning Disabilities, UK
Article Date: 11 Jun 2008 - Taken from MedicalNewsToday

National charity for people with learning disabilities, HFT, has teamed up with charity and voluntary agency, Onside Independent Advocacy, to launch a new initiative which will enhance support for people with profound and multiple learning disabilities.

In partnership with Onside Advocacy, HFT is piloting a project for service users and their families at its Clementi Court service, on the outskirts of Evesham, which is designed for people who have profound and multiple physical, and learning disabilities and who require a high level of support.

The objective of the programme is to enable people with complex needs to become more included in their local community and to improve their quality of life.

Onside is spending time with the people at Clementi Court to try and gain an insight and awareness to their feelings and wishes with a view to representing them to those providing services and support.

The organisation is recruiting local volunteers to help carry out this work and to make the project a success.

"Our volunteers are ordinary people of all ages and backgrounds who give their time to support people to ensure their voices are heard and their rights upheld", said Katy Buckle, development worker at Onside. "Advocates are independent and are not involved as professionals, carers or family members. They don't need formal qualifications but they need to be good listeners, open to others' views, non-judgemental, discreet and tolerant."
Onside offers volunteers a short, local training programme as well as mentoring and ongoing support.

Notes

HFT is a registered national charity for adults with a learning disability. Previously known as The Home Farm Trust the charity was re-branded and adopted the more modern name HFT which maintains its links with the past whilst emphasising its development and progression into the future.

HFT provides services for over 1,000 people in supported living, registered care homes, advocacy, supported employment and day services.

The charity also runs a Family Carer Support Service (FCSS) which provides support each year for 4,000 family carers of adults with learning disabilities.
http://www.hft.org.uk

Onside Independent Advocacy

Onside is a registered charity which was established in 1993. Based in Worcester, it works across the county and in Evesham to provide independent advocacy support to people who are vulnerable or disadvantaged as a result of disability, ill health or old are and who are at risk of not having their rights as citizens/human beings upheld and respected.

Onside Independent Advocacy

Social Signals Recognized By Infants At Younger Age Than Previously BelievedArticle Date: 11 Jun 2008 Taken from MedicalNewsToday

Infants as young as three months old are already sensitive to emotional signals referring to objects, according to an article released on June 10, 1008 in the open access journal PLoS ONE.

It was previously thought that young infants were not capable of processing social signals unless they were directed to them specifically. The faculty to find and use social signals in guiding one's behavior in a social setting, a skill known as social referencing, was accepted as developing at the age of approximately 12 months. Before this age, it was accepted that younger infants could not be guided outside of face-to-face social interactions, and thus could not use social cues to process the world around them.

In an effort to explore the capacity of young infants to build these social cues, this study, led by Stefanie Hoehl, tested three month old infants and how they reacted electrophysiologically to specific pictures. The babies viewed images of people who looked at new objects with either fearful or neutral facial expression, and it was found that the brain activity to the objects varied depending on the emotion of the adult. This indicates that the adults' faces had been used by the infants as referential social cues.

Hoehl summarizes these results: "At three months of age, the infants' attention toward a new object was heightened when an adult had expressed fear toward the object."

Tricia Striano, of Hunter College, points out that this is an important insight on the social development of infants, especially as it might relate to various social development disorders: "Not only do these findings offer new insight as to how the young infant brain processes communicative social signals, but these advancements are also important in eventually being able to target when infants may be at risk for atypical communicative developments such as autism."

She continues, extending her comments on autistic children: "Brain measures tell us how infants process the world around them, even before they have the behavioral repertoire to show us. Children with autism often do not pay attention to relevant social signals. Here, we see that the typically developing infant brain is already effectively attending to and parsing relevant social cues and using these signals to process new objects they encounter in the world."

Missing Protein In Fragile X Syndrome Is Key To Transporting Signals Within Neurons
Taken from MedicaNews Today- Article Date: 10 Jun 2008 - 5:00 PDT

Fragile X syndrome (FXS) robs the brain of a protein that plays a major role in the way neurons communicate and that is essential for brain development, learning and memory.

A team of scientists has discovered new information about how FXS interferes with signaling between the nucleus of neurons and the synapse, the outer reaches of the neuron where two neurons communicate via chemical and electrical signals. The discovery should help lead the way to the development of new treatments for FXS, the most common form of inherited mental retardation and also a genetic contributor to some types of autism and epilepsy.

The research will be published in the June 10 issue of Developmental Cell. The team was led by Gary J. Bassell, professor of cell biology and neurology at Emory University School of Medicine and Robert H. Singer, PhD, professor of anatomy & structural biology at the Albert Einstein College of Medicine. First author was Jason B. Dictenberg of Hunter College, City University of New York and Albert Einstein College of Medicine.

Translation of an organism's genetic information begins in the nucleus of a cell, where the DNA sequence (gene) is copied into an mRNA molecule, then exported into the cell's cytoplasm and translated into protein molecules.

FXS is caused by the silencing of a single gene, which normally would encode for the expression of the fragile x mental retardation protein (FMRP)--an mRNA (messenger RNA) binding protein. mRNA binding proteins are known to be key regulators of gene expression because they act as master regulators of other mRNAs and broadly influence how proteins are synthesized from mRNAs.

The precise functions for FMRP have been unclear, but scientists recently have learned that FMRP is able to bind and regulate several mRNAs that are present at synapses in the brain. Each mRNA molecule can be translated many times at the synapse, producing many copies of the encoded protein and providing an efficient way for a neuron to supply its synapse with essential proteins needed for communication. Since mRNAs can be turned on or off, each synapse can decide for itself whether or not new proteins are needed to promote signaling. Proper signaling at synapses is essential for the complex wiring of connections that must occur during brain development and during learning and memory. In FXS, there are defects in both the structure and signaling at synapses, due to the lack of FMRP regulation of mRNAs at synapses. Until now, a major unanswered question has been how FMRP and its bound mRNAs are delivered to axons and dendrites Ð the tentacle-like projections of neurons-- and to the synapses at their outer extremities.

"A major challenge for the field of neuroscience has been to understand how a selective group of mRNAs can be transported long distances from the nucleus, where the RNA is made, to reach the synapses, where this select group of mRNAs can be translated into the protein molecules that are needed to enable signaling," says Bassell. "This mechanism of mRNA transport into axons and dendrites and its translation at synapses is critical for synapse signaling during learning, memory and cognition."

Bassell and his Emory colleagues have developed high resolution microscopic imaging tools to visualize FMRP in live neurons, allowing them to track the movements of FMRP and associated mRNA molecules along dendrites, using cultured neurons isolated from the hippocampus of mouse embryos.

The researchers discovered that FMRP binds to a molecular motor, which allows it to carry its bound mRNAs in the form of particles out into the dendrites.

"FMRP seems to be quite a clever protein that acts like a postal carrier to deliver messages to the synapse, enabling and sustaining their continued signaling," says Bassell.

In a mouse model of FXS, the investigators discovered that mRNAs are not motored into dendrites in response to synaptic signaling and thus cannot allow for local protein synthesis at synapses needed to sustain the synaptic signaling between nerve cells. In essence, the ability of the nerve cell to communicate from the nucleus to the synapse is lost in fragile X.

The researchers also were able to identify the select group of mRNAs that the neuron ships into dendrites via FMRP. Knowing which molecules within the FMRP pathway function at synapses should facilitate the development of new treatment strategies and drug interventions for FXS.

----------------------------
Article adapted by Medical News Today from original press release.
----------------------------

Other authors included Sharon A. Swanger, Emory University Department of Cell Biology and Laura N. Antar, Albert Einstein College of Medicine. The research was funded by the National Institutes of Health and the Fragile X Research Foundation.

Reference: A Direct Role for FMRP in Activity-Dependent Dendritic mRNA Transport Links Filopodial-Spine Morphogenesis to Fragile X Syndrome. Published online at Developmental Cell. June 10, 2008.

Source: Holly Korschun
Emory University

'Let's Move' Therapy Project Boost For Scottish Children - NHS Invention Reaps Benefit Of Private Sector Partnership
Taken from MedicalToday dated 4/8/2008

A ground breaking training package that helps to identify and support children with sensory motor difficulties including Autism Developmental Co-ordination Disorder (DCD) has been on trial in Dumfries & Galloway and is set to roll out to other education authorities throughout Scotland and potentially the UK.

The "Let's Move" package, which includes a manual, DVD and 40 therapeutic activity cards, was developed originally by two local NHS occupational therapists.

It helps to identify children with potential difficulties, as well as supporting those with diagnosed Autism Spectrum Disorders, Developmental Co-ordination Disorder, and other developmental conditions.

Now, with the help Scottish Health Innovations (SHIL), "Let's Move" has been commercialised with a private sector partner, Glasgow design company Midgibyte Creations. The package is already being used in Dumfries and Galloway schools, and is now being offered to education authorities all over Scotland.

The package is based on the invention by two local NHS paediatric occupational therapists, Clare Kettlewell and Karen Craig.

"The idea is to enable therapists, school staff, parents and carers to work with children at various ages to identify potential problems, but also to intervene very quickly to help those children to gain confidence, work together in groups, and to improve their motor skills," explained Clare Kettlewell.

"Already in Dumfries and Galloway we are seeing evidence that the programme is extremely effective. We expect its success to be repeated in other areas of Scotland."

Elaine Gemmell, of SHIL, commented: "It has been very rewarding working with both the therapists at NHS Dumfries and Galloway and Midgibyte Creations, with a view to creating a product that will benefit children.

"The success of Let's Move will demonstrate that new ideas from within NHS Scotland are worth pursuing. There will always be opportunities to use the specialist knowledge gained within the NHS to improve health and well being in the community. I hope that Let's Move will encourage staff across NHS Scotland to come forward with their own ideas."

Midgibyte Creations, the creative partner for Let's Move, is a design company in Glasgow owned by former Celtic and Scotland international footballer Paul McStay. The company identified an opportunity to dovetail Let's Move with their concept.

"This is an educational program that helps children to improve their skills and gain confidence. As the creative partner for Let's Move, our task was to develop a user friendly resource using video, animation and graphics to empower educators," commented Paul McStay.

"Let's Move has made a difference to children in Dumfries and Galloway and we hope that by creating this pack that children throughout Scotland will now be able to benefit. With this in mind, we are already in discussion with other Local Authorities and we have the support of the Scottish Out of School Care Network.."

About SHIL

Scottish Health Innovations Limited (SHIL) supports the development and commercialisation of innovations arising within the NHS in Scotland. With funding from the Scottish Executive's Chief Scientist Office, Scottish Enterprise and Highlands and Islands Enterprise., SHIL seeks to identify and develop new technologies which can be exploited through partnerships with the private sector. SHIL is able to provide high quality advice and assistance on market application and intellectual property protection to inventors and researchers throughout NHSScotland. Thereafter, considerable value is added to these innovations by providing managerial and funding support during their development and commercialisation.

SHIL seeks to:

- improve quality and value for money of patient care throughout NHSScotland

- increase the generation of income to the NHS

- stimulate economic wealth in Scotland through the creation of new jobs and enterprises, and delivering new market opportunities for businesses interested in licensing NHSScotland technologies

Scottish Health Innovations Limited

Children's Hospital Contributes Genotype Data To Enhance Autism Research Worldwide
Taken from MedicalToday dated 4/8/2008

The Children's Hospital of Philadelphia has contributed a large genotype dataset to the Autism Genetic Resource Exchange (AGRE), a scientific program of the organization Autism Speaks, dedicated to advancing genetic research in autism. This large genetic dataset will now be broadly accessible to autism researchers worldwide.

The Center for Applied Genomics at Children's Hospital employs highly automated microarray technology to perform high-speed genome analysis. The center's HumanHap550 system, manufactured by Illumina, Inc., analyzed 4,500 DNA blood samples gathered by AGRE and generated genotypes -- a compilation of 550,000 genetic markers for each person. Children's Hospital then contributed the genotyped data to AGRE.

By studying patterns of variation in those genotypes, researchers using the AGRE resources will be able to discover and investigate multiple genes that may contribute to autism. Previous family studies have strongly suggested a genetic contribution to autistic spectrum disorders (ASDs). The 4,500 individuals who provided blood samples for the genomic analysis represent approximately 900 families, including 1,250 children with ASDs, their parents and their unaffected siblings.

"We are extremely pleased to provide these genotypes to the public domain," said Hakon Hakonarson, M.D., Ph.D., director of the Center for Applied Genomics at Children's Hospital. "Scientific work using AGRE's data repository will complement our own comprehensive research and clinical programs in autism at Children's Hospital, aimed at finding the causes and cure for this devastating disease." Maja Bucan, Ph.D., professor of Genetics at the University of Pennsylvania, a collaborator on the project and a long-time member of the AGRE steering committee, predicts that "the high-density genotype data on the AGRE families will provide novel insight into a genomic landscape of autism and other neurodevelopmental disorders."

Drawing on data from AGRE's open-access database, researchers from multiple institutions have previously published over 120 scientific papers on the genetics of autism. "These new genotypes greatly enhance the resources we can offer to the worldwide community of scientific investigators by complementing and extending the genotype data made available by other research teams," said Clara Lajonchere, Ph.D., Vice President of Clinical Programs for Autism Speaks and the Director of the AGRE Program.

The Center for Applied Genomics at Children's Hospital has been collaborating in ongoing gene discovery projects with the hospital's robust autism research program. Children's Hospital and investigators from the University of Pennsylvania recently launched a Center for Autism Research, which delves into underlying biological mechanisms in ASDs, along with brain imaging studies of language and communication impairments. That center works hand-in-hand with the hospital's long-established Regional Autism Center, which provides comprehensive, family-based care for children with ASDs. Among the Regional Autism Center's many research studies is its participation in a multicenter national project dedicated to early autism diagnosis and intervention.

About Autism Speaks: Autism Speaks is dedicated to increasing awareness of autism spectrum disorders, to funding research into the causes, prevention and treatments for autism, and to advocating for the needs of individuals with autism and their families. It was founded in February 2005 by Suzanne and Bob Wright, the grandparents of a child with autism. Bob Wright is Vice Chairman, General Electric, and served as chief executive officer of NBC for more than twenty years. The Autism Genetic Resource Exchange is a program of Autism Speaks which collects biomaterials and clinical data from families and makes it widely available to approved researchers. To learn more about Autism Speaks, please visit http://www.autismspeaks.org.

About The Children's Hospital of Philadelphia: The Children's Hospital of Philadelphia was founded in 1855 as the nation's first pediatric hospital. Through its long-standing commitment to providing exceptional patient care, training new generations of pediatric healthcare professionals and pioneering major research initiatives, Children's Hospital has fostered many discoveries that have benefited children worldwide. Its pediatric research program is among the largest in the country, ranking third in National Institutes of Health funding. In addition, its unique family-centered care and public service programs have brought the 430-bed hospital recognition as a leading advocate for children and adolescents. For more information, visit http://www.chop.edu.

The Children's Hospital of Philadelphia
http://www.chop.edu

The NJ Medical Expert, LLC / Www.NJTopDocs.com: April 2008 - National Autism Awareness Month
Taken from MedicalNewsToday dated 4/7/2008

http://www.NJTopDocs.com a division of The NJ Medical Expert brings you information on a very important topic.

April is National Autism Awareness Month, and you may ask yourself, "What is Autism?"

According to the Autism Society of America (ASA), Autism is a complex developmental disability that typically appears during the first three years of life and affects a person's ability to communicate and interact with others. Autism is defined by a certain set of behaviors and is a "spectrum disorder" that affects individuals differently and to varying degrees. There is no known single cause for autism, but increased awareness and funding can help families today.

In February 2007, the Centers for Disease Control and Prevention issued their ADDME autism prevalence report. The report, which looked at a sample of Eight year olds in 2000 and 2002, concluded that the prevalence of autism had risen to 1 in every 150 American children, and almost 1 in 94 boys. The issuance of this report caused a media uproar, but the news was not a surprise to ASA or to the 1.5 million Americans living with the effects of autism spectrum disorder. Nonetheless, the spotlight shown on autism as a result of the prevalence increase opens opportunities for the nation to consider how to serve these families facing a lifetime of supports for their children.

"While the prevalence rate of 1:150 is alarming enough, the CDC found the rate in NJ was even higher at 1:94," says Dr. Jill Harris, Director of Psychology and Coordinator of the Autism Center of Excellence at Children's Specialized Hospital. "It is hard to find someone who has not been affected by autism in some way, whether it is having a relative with autism or having a friend or a neighbor whose relative has autism... Now that our suspicions are confirmed about the high rate of autism, we must make sure that families affected by autism get the help they need."

Know the Signs: Early Identification Can Change Lives

Autism is treatable. Children do not "outgrow" autism, but studies show that early diagnosis and intervention lead to significantly improved outcomes.

Here are some of ASA's signs to look for in the children in your life

- Lack of or delay in spoken language
- Repetitive use of language and/or motor mannerisms (e.g., hand-flapping, twirling objects)
- Little or no eye contact
- Lack of interest in peer relationships
- Lack of spontaneous or make-believe play
- Persistent fixation on parts of object

The NJ Medical Expert - http://www.NJTopDocs.com would like to remind everyone that Autism knows no racial, ethnic, or social boundaries; family income levels; lifestyle choices; or educational levels, and can affect any family and any child.

For more information on Autism please go to http://www.autism-society.org and http://www.njautismcouncil.org.

The http://www.NJTopDocs.com is a resource for NJ residents to find board certified physicians, hospitals and healthcare providers committed to high quality care and patient satisfaction. Partners of the site include Goryeb Children's Hospital, Children's Specialized Hospital and the Autism Society.

http://www.NJTopDocs.com
http://www.TheNJMedicalExpert.com

Understanding Autism: April Is National Autism Awareness Month
Taken from MedicalNewsToday dated 4/7/2008

Control and Prevention say autism may affect as many as 1 in every 150 children, making it more common than pediatric cancer, diabetes and AIDS combined.

Classified as a severe neurodevelopmental disorder with early childhood onset, the symptoms produce significant impairments in social, communicative, cognitive and behavioral functioning. According to Steven Moldin, Ph.D., research professor of psychiatry and behavioral sciences at the Keck School of Medicine of USC, these symptoms typically last through a person¹s lifetime. Many scientists believe that both genes and environmental factors play a role in the development of autism, but to date no specific genetic or environmental risk factor has been clearly established as a cause of the condition, Moldin says.

There are no cures for autism, but pharmacological, behavioral and psychosocial interventions can change the course of the disorder, he says. Some of the current treatment options include occupational therapy, dietary restrictions, sensory integration therapy and speech therapy, with most interventions featuring highly structured educational programs aimed at improving communication and social skills.

³The earlier the intervention, the greater chance of a positive effect on long-term outcome, Moldin says.

According to Moldin, some early warning signs to look for include:

-- losing or not having speech around 18 months
-- little to no eye contact
-- loss or lack of gestures
-- repetitive speech or actions
-- unusual reactions to the way things look, feel, smell, taste or sound

Proper and comprehensive assessment is essential,² says Moldin. ³It is very important to recognize the early signs of autism and seek early intervention services.

If you suspect autism in your child, he suggests that you seek out autism experts autism and related developmental disorders medical centers, hospitals or programs across the country.

University of Southern California

Drosophila Drug Screen For Fragile X Syndrome Finds Promising Compounds And Potential Drug Targets
Taken from Medical News Today- News Dated 3/10/2008

Scientists using a new drug screening method in Drosophila (fruit flies), have identified several drugs and small molecules that reverse the features of fragile X syndrome -- a frequent form of mental retardation and one of the leading known causes of autism. The discovery sets the stage for developing new treatments for fragile X syndrome.

The results of the research by lead scientist Stephen Warren, PhD, chair of the Department of Human Genetics at Emory University School of Medicine, are published online in the journal Nature Chemical Biology.

Dr. Warren led an international group of scientists that discovered the FMR1 gene responsible for fragile X syndrome in 1991. Fragile X syndrome is caused by the functional loss of the fragile X mental retardation protein (FMRP). Currently there is no effective drug therapy for fragile X syndrome, and previously no assays had been developed to screen drug candidates for the disorder.

During the past 17 years, intense efforts from many laboratories have uncovered the fundamental basis for fragile X syndrome. Scientists believe FMRP affects learning and memory through regulation of protein synthesis at synapses in the brain. One leading view, proposed by Dr. Warren and colleagues, suggests that over stimulation of neurons by the neurotransmitter glutamate is partly responsible for the brain dysfunction resulting from the loss of FMRP.

In their current experiment, Emory scientists used a Drosophila model lacking the FMR1 gene. These fruit flies have abnormalities in brain architecture and behavior that parallel abnormalities in the human form of fragile X syndrome. When FMR1-deficient fly embryos were fed food containing increased levels of glutamate, they died during development, which is consistent with the theory that the loss of FMR1 results in excess glutamate signaling.

The scientists placed the FMR1-deficient fly embryos in thousands of tiny wells containing food with glutamate. In addition, each well contained one compound from a library of 2,000 drugs and small molecules. Using this screening method, the scientists uncovered nine molecules that reversed the lethal effects of glutamate.

The three top identified compounds were known activators of GABA, a neural pathway already known to inhibit the effects of glutamate. In the study, GABA reversed all the features of fragile X syndrome in the fruit flies, including deficits in the brain's primary learning center and behavioral deficits. The screening also identified other neural pathways that may have a parallel role in fragile X syndrome and could be targets for drug therapy.

"Our discovery of glutamate toxicity in the Drosophila model of fragile X syndrome allowed us to develop this new screen for potential drug targets," notes Dr. Warren. "We believe this is the first chemical genetic screen for fragile X syndrome, and it highlights the general potential of Drosophila screens for drug development.

"Most importantly, it identifies several small molecules that significantly reverse multiple abnormal characteristics of FMR1 deficiency. It also reveals additional pathways and relevant drug targets. These findings open the door to development of effective new therapies for fragile X syndrome."

----------------------------
Article adapted by Medical News Today from original press release.
----------------------------

First author of the article was Shuang Chang, postdoctoral student in Emory's Department of Human Genetics. Other authors included Steven M. Bray and Peng Jin from Emory, Zigang Li from the University of Chicago and Daniela C. Zarnescu from the University of Arizona.

The research was supported by the National Institutes of Health, the Fragile X Research Foundation, and the Colonial Oaks Foundation.

Dr. Warren is chair of the scientific advisory board for Seaside Therapeutics, which is developing drugs for fragile X syndrome.

Source: Holly Korschun
Emory University

United Mitochondrial Disease Foundation Statement On Vaccines, Autism And Mitochondrial Disease
Taken from Medical News Today- News Dated 3/7/2008

Statement from Chuck Mohan, executive director and CEO of the United Mitochondrial Disease Foundation on reports of possible links between childhood vaccinations and mitochondrial diseases:

"There are no scientific studies documenting that childhood vaccinations cause or worsen mitochondrial diseases, but there is very little scientific research in this area. Mitochondrial diseases are as prevalent as childhood leukemia, however the National Institutes of Health devotes only $11 million a year to research into mitochondrial disorders and only about one-third of that is earmarked for primary mitochondrial disease research. Many scientists believe unmasking the causes of mitochondrial disease may lead to possible cures for Parkinson's, Alzheimer's, heart disease and cancer."

United Mitochondrial Disease Foundation
United Mitochondrial Disease Foundation

Vaccine Autism Case Gets US Government Compensation
Taken from Medical News Today- News Dated 3/7/2008

The parents of 9 year-old Hannah Poling spoke to the media this week about the US government's landmark decision to pay compensation following their claim that childhood vaccines caused their daughter's autism. The government's sealed decision, made last November, was recently made public on an autism advocacy group website.

The payout, the extent of which is yet to be decided, comes from a federal fund that compensates victims of vaccine-related injuries. The ruling effectively states that Hannah's pre-existing rare mitochondrial disorder had disposed her to autism and this was "significantly aggravated" by the vaccines she received as a toddler eight years ago.

Hannah's father, neurologist Dr Jon Poling who practised in Athens, Georgia, told the press on Thursday that he and his wife, Terry, a registered nurse and former trial attorney, were " very pleased" with the decision, reported CNN.

Poling said he and his wife had endured "eight difficult and heartbreaking years since our daughter's injury".

While conceding that childhood vaccines contributed to Hannah's autism, government health officials maintain that there is no proof that they cause autism directly. The government decision does not support the parents' claim, they said.

Director of the US Centers for Disease Control and Prevention (CDC), Dr Julie Gerberding said:

"The government has made absolutely no statement indicating that vaccines are a cause of autism."

"This does not represent anything other than a very specific situation and a very sad situation as far as the family of the affected child," said Gerberding, and urged parents to "continue to get their children immunized", because it is "proven to save lives," reported CNN.

Terry described her daughter as "precocious" in her first 18 months, before receiving 9 routine childhood vaccines in July 2000. After that her health declined rapidly, she said. Hannah stopped eating, did not respond when spoken to, and started having bouts of screaming and high fever.

She started showing all the symptoms of autism said Terry Poling, who added that it broke Hannah's father's heart.

Both parents gave up their jobs to spend more time with Hannah, and in 2002 they filed their case, alleging that the childhood vaccines had caused their daughter's autism.

Jon Poling said Hannah, like her mother, has a rare inherited mitochondrial disorder. Mitochondria are the "power batteries" inside every cell of the body and supply the cell with energy.

Poling said the fact that his wife did not have autism showed Hannah did not inherit it from her mother, and contended it was the mercury in the vaccine preservative thimerosal that triggered the condition in their daughter.

The Poling's lawyer said their case had been consolidated with other claims, and the government agreed to settle just before an expert testimony was to be filed. He said the family was willing to make their case public, but the court had ruled it should stay secret.

Experts have been cautious about generalizing from this case, suggesting it is more of an exception than a rule.

Dr Jennifer Shu of the the American Academy of Pediatrics told NBC4 that "you can't generalize and say, OK, now every child with a mitochondrial disorder is going to go through same thing that Hannah did".

There are many unknowns and while the government maintains there is no proven link between childhood vaccines and autism, there are some 5,000 cases in the pipeline, reports NBC4. Hannah's case is being watched closely and is being described as a landmark.

Speaking to WebMD, Jon Poling pointed out the difference between proving a link scientifically and proving it legally.

"When you are talking about the courtroom versus science", said Poling, "the burden of proof is different".

"We showed there was a plausible mechanism, we showed that an injury occurred shortly after her vaccination. Her growth curve went flat for months," he told WebMD.

After all their experience with Hannah, the Polings said they are not against vaccines.

As Jon Poling explained to WebMD:

"I want to make it clear I am not anti-vaccine. Vaccines are one of the most important, if not the most important advance, in medicine in at least the past 100 years."

"But I don't think that vaccines should enjoy a sacred cow status, where if you attack them you are out of mainline medicine," he added.

Poling said that as with every medical treatment, risks exist, and to say they do not is not true. They have to be weighed against the benefits, and sometimes people are injured by a vaccine, but for the vast majority of people they are safe.

"But I couldn't say that vaccines are absolutely safe, that they are not linked to brain injury and they are not linked to autism," said Poling.

Hannah's mother, Terry, told the press yesterday:

"We are absolutely pro-vaccine. What we want is safe vaccines."

Terry and Jon Poling said they did not think their story was unique and they feared other families could be in the same position.

According to the CDC, thimerosal, a vaccine preservative that contains mercury, was removed from childhood vaccines after an agreement made in 1999 between vaccine makers, the American Academy of Pediatrics and public health authorities. However, childhood autism rates continued to climb after this.

Studies published in respected medical journals have found no link between childhood vaccines and autism, and leading institutions such as the Institute of Medicine, the American Academy of Pediatrics, as well as government agencies like the CDC, maintain there is no known link.

About one in 150 children have autism, according to the CDC.

Sources: CNN, WebMD, NBC4, CDC.

Written by: Catharine Paddock, PhD

Scientific Protein Laboratories LLC Statement Regarding FDA Briefing On Heparin Products Made By Baxter
Taken from Medical News Today- News Dated 3/6/2008

The following statement was issued by Scientific Protein Laboratories LLC (SPL) following the press briefing held by the Food and Drug Administration (FDA) on its investigation into adverse events associated with the use of heparin products made by Baxter:

Patient safety remains SPL's paramount concern. SPL has been working aggressively with the FDA and Baxter, as well as with outside experts, to identify the root cause of the adverse events seen in Baxter products. Thus far, no conclusions have been reached about the root cause. It is premature to conclude that the heparin active pharmaceutical ingredient (API) sourced from China and provided by SPL to Baxter is responsible for these adverse events.

During the call with the media, FDA speculated that the source of the adverse events may be a contaminant. It is important to note that this theory is speculation at this point, and SPL is participating actively in working with the FDA to pursue this theory as well as others so that we can understand the cause of the adverse events.

However, SPL has committed to the FDA to voluntarily remove from the market any lots of China-sourced heparin API where tests have indicated the presence of an extra signal/peak in testing. Today, SPL is notifying its customers who have received certain lots of that API material.

SPL emphasizes that this voluntary action, which has been closely coordinated with the FDA, is being taken strictly as a precaution.

As an update, Changzhou SPL is preparing its response to the observations made by the FDA during a recent inspection of its facility. It is important to emphasize that the root cause of the heparin adverse events has not been tied to any of the agency's observations.

Related Articles

-- Baxter Heparin Contaminant Found
-- Heparin Chinese Supplier Was Never Checked By Chinese Drug Regulators
-- Heparin May Be Contaminated, Say German Authorities

Scientific Protein Laboratories

Clues To Autism Found In Sticky Blood Protein
Taken from Medical News Today- News Dated 3/5/2008

Many children with autism have elevated blood levels of serotonin - a chemical with strong links to mood and anxiety. But what relevance this "hyperserotonemia" has for autism has remained a mystery.

New research by Vanderbilt University Medical Center investigators provides a physical basis for this phenomenon, which may have profound implications for the origin of some autism-associated deficits.

In an advance online publication in the Journal of Clinical Investigation, Ana Carneiro, Ph.D., and colleagues report that a well-known protein found in blood platelets, integrin beta3, physically associates with and regulates the serotonin transporter (SERT), a protein that controls serotonin availability.

Autism, a prevalent childhood disorder, involves deficits in language, social communication and prominent rigid-compulsive traits. Serotonin has long been suspected to play a role in autism since elevated blood serotonin and genetic variations in the SERT have been linked to autism.

Alterations in brain serotonin have also been associated with anxiety, depression and alcoholism; antidepressants that block SERT (known as SSRIs, or selective serotonin reuptake inhibitors) block SERT's ability to sweep synapses clean of serotonin.

Working in the lab of Randy Blakely, Ph.D., Carneiro was searching for proteins that interact with SERT that might contribute to disorders where serotonin signaling is altered.

"Levels of SERT in the brain are actually quite low, so we decided to see what progress we could make with peripheral cells that have much higher quantities," said Blakely, the Allan D. Bass Professor of Pharmacology and director of the Vanderbilt Center for Molecular Neuroscience. "This took us to platelets."

In platelets, SERTs accumulate serotonin produced in the gut. SSRIs or genetic deletion of SERT in animals prevents serotonin uptake in the platelet.

"Prior research had fingered the integrin beta3 gene as a determinant of blood serotonin levels and, independently, as a risk factor for autism," Blakely said.

In the current study, Carneiro identified a large set of proteins that "stick" to SERT, presuming they might control SERT activity. One of these turned out to be integrin beta3.

Once they confirmed a physical relationship between the two proteins, Blakely's team investigated whether the interaction can change SERT activity. They found that cells lacking integrin beta3 exhibit reduced serotonin uptake and that integrin beta3 activation or a human integrin beta3 mutation greatly enhances serotonin uptake.

"We found that integrin beta3 can put the serotonin transporter into high gear," said Blakely. Notably, Edwin Cook, M.D., at the University of Illinois at Chicago and a co-author on the study, had shown that the same integrin beta3 mutation that elevates SERT activity also predicts elevated blood serotonin.

"Most investigators studying this integrin beta3 mutation have focused on how its high activity state changes platelet clotting and never looked at its impact on serotonin levels or SERT function," explained Carneiro. "Now they have a reason to."

"We don't think the platelet itself contributes to autism," said Blakely, "but rather we believe that the brain's serotonin transporter may be controlled by integrin proteins in a very similar manner."

Carneiro and Blakely believe that too much SERT activity imposed by abnormal integrin interactions could restrict availability of serotonin in the brain during development, as well as in the adult.

"What is even more striking is that this is the second time we have found elevated SERT activity associated with autism," said Blakely. In a 2005 study, Blakely and Vanderbilt collaborator James Sutcliffe, Ph.D., identified mutations in the SERT gene that triggered elevated SERT activity.

Carneiro is now hot on the trail of integrin interactions with brain SERT as well as engineering mice that express human integrin beta3 mutations.

At a February Keystone Conference, Blakely described preliminary studies with mice that his lab has engineered to express hyperactive SERT mutations. "Together, these new animal models offer an unprecedented opportunity to peel away the complexity of autism and possibly develop new therapies," he said.

This research also may uncover new ways of treating depression. "Current antidepressant mechanisms still essentially work in the same way they did 25 years ago - by targeting transporter uptake of neurotransmitter directly," Carneiro said. "Now we may have a completely new way to go about it."

----------------------------
Article adapted by Medical News Today from original press release.
----------------------------

These new studies represent an early success of Vanderbilt's recently established Silvio O. Conte Center for Neuroscience Research, an NIMH-sponsored program designed to investigate the genes and proteins that control serotonin signaling during development and in the adult, Blakely noted. The research was also supported by the National Alliance for Research on Schizophrenia and Depression (NARSAD).

Source: Craig Boerner
Vanderbilt University Medical Center

Reaching Out To Siblings In The Shadow Of Autism
Taken from Medical Today- News Dated 3/4/2008

With one out of every 150 people at risk of getting autism, it has become the fastest growing developmental disability in the U.S.* For every child who is treated for autism, there are often many more who have to learn to deal with it. They are the brothers and sisters of autistic children. A new program is designed specifically to help them learn to cope with a condition that demands so much from their families.

Ten year old Emily Carder relishes quiet times like these with her sister. Six year old Anna has autism, and interactions like these often turn contentious or even aggressive. Because of that, Anna spends 45 hours each week either in special classes or working with therapists.

"If she has down time, she's doing something inappropriate. The whole idea with kids with autism, with having the intensive therapy that many hours a week, is changing the behavior," says Angie Carder, Anna's mom.

In most cases, changing that behavior takes a lot of resources - time, money and attention - which often leaves less for siblings like Emily. An innovative program at Nationwide Children's Hospital is helping, by focusing on the "other" kids who are dealing with autism. They are the siblings who often learn to cope quietly.

"These kids are not spending every day talking about these issues and a lot of time they haven't even spent a lot of time thinking about the issues, but it hits them every day," says Jacquie Wynn, Ph.D., at Nationwide Children's Hospital.

That's where programs like this come in. It's different than most. Because this program is ongoing, it allows children to get to know others who are facing the same issues and learn together how to adjust.

"It is fun, and active, but it also allows for honest, open discussions about the issues of having a sibling with autism," says Wynn.

Emily has been coming for weeks, and in that time, she has learned to focus less on what frustrates her about her sister, and more on the things she loves about her.

"She's really improving, she's giving lots of kisses and hugs. I think my sister is the best autistic kid there could ever be," says Emily Carder, Anna's sister.

Experts hope this program will be a model for others around the country. Without this type of help, researchers say siblings can feel secluded, guilty or even become depressed. Studies have shown that the lifetime cost of caring for a child with autism is between three and five million dollars.*

*Autism Fact Sheet, Autism Society of America, retrieved February 2008

Ohio State University Medical Center

'Virtual Peers' May Teach Children With Autism
Taken from Medical News Today- New Dated 3/3/2008

Using "virtual peers" -- animated life-sized children that simulate the behaviors and conversation of typically developing children -- Northwestern University researchers are developing interventions designed to prepare children with autism for interactions with real-life children.

Justine Cassell, professor of communication studies and electrical engineering and computer science, recently presented a preliminary study on the work at a meeting of the American Association for the Advancement of Science.

"Children with high-functioning autism may be able to give you a lecture on a topic of great interest to them but they can't carry on a 'contingent' -- or two-way -- conversation," said Cassell, director of Northwestern's Center for Technology and Social Behavior.

Cassell and researcher Andrea Tartaro collected data from six children with high-functioning autism aged 7 to 11 as they engaged in play during an hour-long session with a real-life child, and with a virtual peer named Sam.

In an analysis of those interactions, they found that children with autism produced more and more "contingent" sentences when they spoke with the virtual peer, while their sentences did not become increasingly contingent when they were paired with the real-life children.

"Certainly we're not saying that virtual peers make the best playmates for children with autism," said Tartaro. "The overall goal is for the children with autism to generalize the skills they learn in practice sessions with virtual peers to meaningful interactions with real-world children."

Nor are Northwestern researchers saying they can teach "contingency" -- appropriate back and forth conversation -- in a single session. But their findings hold promise that virtual peers can be useful in helping children with autism develop communication and social skills.

And virtual peers have some distinct advantages over real-life children when it comes to practicing social skills. For starters, children with autism often like technology. "It interacts to us," said one child with autism upon first meeting a virtual peer.

What's more, said Cassell, virtual peers don't get tired or impatient. "We can program their conversation to elicit socially-skilled behavior, and we can vary the way that they look and behave so children with autism are exposed to different kinds of behavior."

Cassell and Tartaro's study is part of larger efforts taking place in the Articulab, the Northwestern University laboratory where Cassell and colleagues explore how people communicate with and through technology.

In the Articulab, Cassell, who was trained as a psychologist and linguist, and Tartaro are teaming up with psychologist Miri Arie to develop assessment and intervention procedures that they hope will give them a better understanding of peer behaviors of children with autism.

A major challenge for children with autism is learning the rules of social behavior that typically developing children seem to learn intuitively.

"Although children's play appears spontaneous and wild, it follows certain basic social rules," said Arie. "We hope virtual peers like Sam will allow children with autism to practice the rules behind joining a game, holding a conversation and maintaining social interaction. Then they can apply their newly acquired skills to real-life situations."

----------------------------
Article adapted by Medical News Today from original press release.
----------------------------

For further information about Cassell's work at the Articulab, visit http://articulab.northwestern.edu/.

Source: Wendy Leopold
Northwestern University

Families Of Children With Autism Are Plagued By Financial Struggles
Taken from Medical News Today- News Dated 3/3/2008

The information that a child has been diagnosed with autism often throws parents into an emotional tailspin. A new study from a University of Missouri researcher says most people don't immediately consider the major financial struggles that follow. She suggests more outreach is needed to help families plan and cope with the profound financial life changes they may face.

"As a parent, the diagnosis of autism upends your world," said Deanna Sharpe, associate professor of personal financial planning in the MU College of Human Environmental Sciences and whose own son was diagnosed with the disorder. "It is important for us to hear the voices of families who have financial struggles. There is strong pressure to do everything you can for your child. However, there is a great potential for families to spend a lot of money on therapy or new ideas that may be ineffective. Careful evaluation of therapies is important."

Some of the costs include specialized child care, speech and language therapy, other types of one-on-one therapy, special interventions, and costly food or drug supplements. Applied Behavior Analysis (ABA), a widely respected and recommended behavioral intervention, can be expensive. This intervention requires children to work one-on-one with a trained therapist for 30 to 40 hours each week. In the study, some parents reported paying as much as $30,000 a year for ABA therapy. Parents whose child with autism was destructive also reported paying compensation and replacements costs for items that were destroyed.

Some families quoted in the study reported skipping meals to be able to afford therapy for their children. Others talked about robbing their future by depleting savings, emptying their 401K plans, selling stocks and even filing for bankruptcy. More costs are added to some families who need counseling and medication for themselves in order to cope with the stress of raising a child with autism, further straining the family budget.

Sharpe says it is important to begin financial planning as soon as a diagnosis is made. She suggests financial planners need to help direct families to available resources and help them think seriously about the implications of spending all their retirement money on various therapies or having one parent step out of the job force to care for a child when other options could be available.

"Autism has a startlingly huge impact on society," Sharpe said. "We know early intervention can influence how well a child will do later in life. It's a human capital investment that can prevent or reduce the need for public support when a child with autism becomes an adult. However, it is costly to obtain this intervention."

----------------------------
Article adapted by Medical News Today from original press release.
----------------------------

The study - "Financial Problems Associated with Having a Child with Autism: How Financial Advisors Can Help" - won the Association for Financial Counseling and Planning Education outstanding conference paper award. The study was published in the Journal of Family and Economic Issues. Dana Baker, University of Washington, co-authored the study.

Source: Jennifer Faddis
University of Missouri-Columbia

Do Animals Think Like Autistic Savants?
Taken from Medical News Todays- News Dated 2/19/2008

When Temple Grandin argued that animals and autistic savants share cognitive similarities in her best-selling book Animals in Translation (2005), the idea gained steam outside the community of cognitive neuroscientists. Grandin, a professor of animal science whose best-selling books have provided an unprecedented look at the autistic mind, says her autism gives her special insight into the inner workings of the animal mind. She based her proposal on the observation that animals, like autistic humans, sense and respond to stimuli that nonautistic humans usually overlook.

In a new essay published in the open access journal PLoS Biology, Giorgio Vallortigara and his colleagues, argue that, while Grandin's book "shows extraordinary insight into both autism and animal welfare," the question of equivalent cognitive abilities between savants and animals "deserves scrutiny from scientists working in animal cognition and comparative neuroscience."

Vallortigara et al. argue that savant abilities-for example, exceptional skills in music, math, or art-come at a cost in other aspects of processing and, therefore, appear to be unrelated to the extraordinary species-specific adaptations seen in some taxa. Furthermore, the authors argue, rather than having privileged access to lower level sensory information before it is packaged into concepts, as has been argued for savants, animals, like non-autistic humans, process sensory inputs according to rules, and that this manner of processing is a specialized feature of the left hemisphere in humans and nonhuman animals. At the most general level, they argue, "the left hemisphere sets up rules based on experience and the right hemisphere avoids rules in order to detect details and unique features that allow it to decide what is familiar and what is novel. This is true for human and nonhuman animals, likely reflecting ancient evolutionary origins of the underlying brain mechanisms."

Grandin, who responds to the authors' critique in a special commentary, suggests that "the basic disagreement between the authors and me arises from the concept of details-specifically how details are perceived by humans, who think in language, compared with animals, who think in sensory-based data. Since animals do not have verbal language, they have to store memories as pictures, sounds, or other sensory impressions." And sensory-based information, she says, is inherently more detailed than word- based memories. "As a person with autism, all my thoughts are in photo-realistic pictures," she explains. "The main similarity between animal thought and my thought is the lack of verbal language."

Though Grandin appreciates the authors' "fascinating overview of the most recent research on animal cognition," she suggests that "further experiments need to be done with birds to either confirm or disprove Vallortigara et al.'s hypothesis that birds such as the Clark's nutcracker, which has savant-like memory for food storage, has retained good cognition in other domains. My hypothesis is that birds that have savant-like skills for food storage sites or remembering migration routes may be less flexible in their cognition." Grandin welcomes the discussion following the publication of her book-we invite readers to join in that discussion by posting their own Reader Response.

Are animals autistic savants?
Vallortigara G, Snyder A, Kaplan G, Bateson P, Clayton NS, et al.
PLoS Biol 6(2): e42. doi:10.1371/journal. pbio.0060042
Please click here to view article online

Plos Biology
Public Library of Science
185 Berry Street, Suite 3100
San Francisco, CA 94107
USA

Autistic Children, Remedial Readers, Language Learners Helped By Animated Tutors
Taken from Medical News Today- News Dated 2/15/2008

By: Jennifer McNulty

Tools developed by researchers exploring language and speech comprehension can be powerful aids for remedial readers, children with language challenges, and anyone learning a second language, according to psychology professor Dominic Massaro of the University of California, Santa Cruz.

Massaro is a cognitive researcher whose breakthroughs have advanced researchers' understanding of the importance of face-to-face interaction in speech comprehension. Massaro will participate in a panel discussion of advances in language and speech science at the annual meeting of the American Association for the Advancement of Science (AAAS) in Boston.

Massaro has developed computer-assisted speech and language tutors that use natural human speech to model language articulation. This sophisticated technology, which has helped autistic and hearing-impaired children, is now being incorporated into Scholastic's System 44 new remedial reading program for California schoolchildren, and the software is being tailored to help with the acquisition of languages, including Arabic.

"When you're learning a new language, it's helpful to see how the words are formed," said Massaro. "For instance, in Arabic, segments are articulated at the back of the throat." Massaro's facial animation software features a realistic tongue and palate that students can access in dynamic sideview cutaways of the tongue, jaw, and teeth. Combining such visual cues with sound boosts comprehension--and mimics the natural processes that laboratory experiments by Massaro and others have illuminated.

"People often have difficulty pronouncing and discriminating certain sounds in foreign languages," said W. Lewis Johnson, CEO of Alelo, an interactive computer gaming startup that uses speech recognition to teach foreign languages to players in simulated environments like Iraq. "Baldi (Massaro's animated tutor) is a potentially useful tool for helping language learners to overcome these difficulties."

During a recent presentation at the Defense Language Institute in Monterey, CA, Massaro emphasized the value of an animated tutor in second-language acquisition. "Working with Baldi can be less intimidating because students don't feel shy about making mistakes," he said, adding that students can practice outside the classroom and get feedback when teachers are unavailable.

"The ability to perceive speech is based on the integration of visual and auditory information," said Massaro, whose Animated Speech Corporation (ASC) has produced software that features an animated tutor that teaches vocabulary, grammar, pronunciation, and speech articulation. The software is in use by hard-of-hearing students at the Tucker-Maxon Oral School in Portland and the Bay School for autistic children in Santa Cruz.

----------------------------
Article adapted by Medical News Today from original press release.
----------------------------

Source: Jennifer McNulty
University of California - Santa Cruz

MIT Gene Research May Explain Autistic Savants
Taken from Medical News Today- News Dated 2/12/2008

Mice lacking a certain brain protein learn some tasks better but also forget faster, according to new research from MIT that may explain the phenomenon of autistic savants in humans. The work could also result in future treatments for autism and other brain development disorders.

Researchers at the Picower Institute for Learning and Memory at MIT report in the Feb. 13 issue of the Journal of Neuroscience that mice genetically engineered to lack a key protein used for building synapses-the junctions through which brain cells communicate-actually learned a spatial memory task faster and better than normal mice. But when tested weeks later, they couldn't remember what they had learned as well as normal mice, and they had trouble remembering contexts that should have provoked fear.

"These opposite effects on different types of learning are reminiscent of the mixed features of autistic patients, who may be disabled in some cognitive areas but show enhanced abilities in others," said Albert Y. Hung, a postdoctoral associate at the Picower Institute, staff neurologist at Massachusetts General Hospital and co-author of the study. "The superior learning ability of these mutant mice in a specific realm is reminiscent of human autistic savants."

Autism is one of a group of developmental disabilities known as autism spectrum disorders (ASDs), in which a person's ability to communicate and interact with others is impaired. The Centers for Disease Control and Prevention estimates that one in 150 American children has an ASD. Occasionally, an autistic person has an outstanding skill, such as an incredible rote memory or musical ability. Such individuals-like the character Dustin Hoffman played in the film Rain Man-may be referred to as autistic savants.

Hung said that while it seems counterintuitive that loss of an important synaptic scaffold protein would result in improved learning among the mice in this study, the absence of this protein may "trap" the mice's synapses in a more plastic state, which means the synapses are ready to respond to input but not maintain it in long-term memory.

Aberrant synapse development and faulty structure of dendritic spines-tiny protrusions on the surface of neurons that receive messages from other neurons-are often associated with neurodevelopmental disorders, including autism, in humans.

Hung; Morgan H. Sheng, MIT's Menicon Professor of Neuroscience; and colleagues investigated the role in brain development and cognitive function of a protein called Shank1. Shank1 is one member of a family of proteins that act as structural scaffolds linking together different components of the synapse. In humans, mutations in the closely related protein Shank3 have been linked to the autism spectrum of disorders characterized by impaired social interaction, absent or delayed language development and repetitive behaviors.

The mice in the study had smaller dendritic spines and weaker brain synapses. Their enhanced spatial learning is similar to that of mice engineered to have a mutation in another protein-neuroligin3-that binds directly to Shank1 and is also associated with autism. "We speculate that enhanced spatial learning might be a common feature of mouse models of autism, and that it might reflect a pathological elevation of brain plasticity in the human disease," Hung and Sheng wrote.

In addition to Hung and Sheng, a Howard Hughes Medical Institute (HHMI) investigator, MIT authors are Picower Institute research scientist Kensuke Futai; MIT biology graduate student Jubin Ryu; MIT biology undergraduate Mollie A. Woodworth, Picower Institute postdoctoral fellow Fleur L. Kidd; Picower Institute research assistant Clifford Sung; and Mark F. Bear, Picower Professor of Neuroscience, HHMI investigator and director of the Picower Institute. Additional authors are from the University of Milan, the University of North Carolina at Chapel Hill, and Fujita Health University in Japan.

This work was supported by the RIKEN-MIT Neuroscience Research Center, the National Institutes of Health and HHMI.

http://www.mit.edu

Autistic Behaviors In Offspring Linked To Prenatal Exposure To Maternal Antibodies
Taken from Medical News Today- News Dated 2/12/2008

By: Karen Finney

New research from the UC Davis M.I.N.D. Institute shows that an interaction between fetal brain cells and maternal antibodies could be linked with the repetitive behavior - also called stereotypies - that is characteristic of autism. While additional studies are needed to confirm the outcome, this result leads investigators to suspect that brain-directed antibodies during the prenatal period could be a causal factor for the disorder. The study appears online now and will be published in a future issue of Brain, Behavior and Immunity.

The study builds on recent research led by UC Davis immunologist Judy Van de Water (to be published in the March 2008 issue of Neurotoxicology) showing that IgG antibodies from the blood of mothers of children with autism react against fetal brain proteins. The outcome was predominant with IgG samples from mothers of children with the regressive form, rather than the early onset form, of the disorder. Her outcome raised the possibility that some cases of autism may be linked to antibody transplacental transfer during pregnancy which, in turn, affects the growing brain.

"Dr. Van de Water's result implicated maternal immune system factors with at least one form of autism," said neuroscientist David Amaral, research director of the M.I.N.D. Institute and senior author of the current study. "We wanted to take that important finding a step further and find out if IgG exposure during pregnancy could cause the kinds of changes in social interactions or behavior we see in children with autism."

To test this hypothesis, Amaral and his research team at the California National Primate Research Center exposed eight rhesus monkeys to human IgG at three times during the end of the first trimester of pregnancy. Four monkeys received IgG from mothers of children with autism, while four received antibody isolated from the blood of mothers of typically developing children to ensure that any potential outcomes were not due to human IgG exposure. Five monkeys received no treatment whatsoever and were included as study controls. The behavior and social interactions of all 13 offspring were then carefully observed and recorded over the course of a year-and-a-half in a variety of familiar and novel settings.

The team identified only mild social alterations in the four monkeys treated with IgG from mothers of children with autism. The monkeys' behavior, however, was notably distinct, since all of them exhibited repetitive activities such as pacing, backflipping, twirling and swinging with much greater frequency and for longer periods of time than other monkeys in the study. The stereotypies were most pronounced after weaning and were even more striking in unfamiliar settings.

"The major significance of this study is that it links exposure to abnormal immune system factors during pregnancy with specific behavioral outcomes in offpsring," said Amaral. "The monkeys' behavior is profoundly changed from normal, and those changes are similar to impairments that we see in children with autism. The study adds to increasing evidence that immune system factors of mothers could contribute to the development of some forms of autism."

While the finding is remarkable, the results must be replicated in a larger, more comprehensive study before prenatal IgG exposure can be confirmed as a risk factor for autism. At that point, the researchers are hopeful that clinical protocols can be developed to identify this risk factor during pregnancy.

"We started with a small study to see if our assumptions had merit, and that definitely proved to be true," said Amaral. "If a more exhaustive study has the same results, we will be able to say with confidence that we've identified a causal factor for some cases of autism. The goal after that will be to define blood tests that isolate IgG as a diagnostic marker."

One of many forms of antibodies in blood serum, IgG typically crosses the placenta as a protective agent for the growing fetus and newborn child. However, antibodies formed against one's own body (autoantibodies) are implicated in disorders such as lupus, multiple sclerosis and arthritis. The known links between IgG and the prenatal environment and autoimmune-mediated disorders is what originally persuaded Van de Water to test the potential role of fetal-brain-specific IgG in autism.

The presence of stereotypies is part of one major symptom category - in addition to social deficits and language impairments - of the autism diagnosis. Clinicians do not know for certain why children with autism tend to repeatedly, for instance, rock, flap their hands, twirl objects or walk on their toes. It has been surmised that the repetition might help reduce anxiety or could be related to damage in specific parts of the brain. This new research provides evidence that brain-directed antibodies in the immune systems of mothers may provide part of the answer.

"If we confirm that these antibodies are a risk factor for autism, it's possible that they could be removed through treatments much like those used for autoimmune and inflammatory diseases," said study lead author Martin, who is now an assistant professor in the Department of Psychology at Azusa Pacific University and was a postdoctoral fellow in the Amaral lab when the study was conducted. "It's early in the research process to consider specific therapies, but it is clear that our result should lead to a much greater emphasis in autism science on immune system links to the disorder."

----------------------------
Article adapted by Medical News Today from original press release.
----------------------------

This research was supported by grants from the National Institute of Mental Health, the National Institute of Environmental Health Sciences, the M.I.N.D. Institute, Visceral and the Ted Lindsay Foundation. It was conducted in association with the UC Davis Children's Center for Environmental Health and made possible by serum samples made available by the Autism Genetic Resource Exchange. A copy of the study can be downloaded at http://www.sciencedirect.com/.

The UC Davis M.I.N.D. (Medical Investigation of Neurodevelopmental Disorders) Institute is a unique collaborative center that brings together clinicians, scientists, parents and educators for research on causes, preventions and treatments of autism, fragile X syndrome, Tourette's syndrome, attention-deficit/hyperactivity disorder and other neurodevelopmental disorders. For more information, visit http://www.mindinstitute.org/.

Source: Karen Finney
University of California - Davis - Health System

Way To Measure, Treat Autism Suggested By Brain Study
Taken from Medical News Today- News Dated 2/7/2008

Researchers have pinpointed subtle deficits in the brains of people with autism spectrum disorder (ASD) that they say could aid more precise diagnoses and perhaps improve treatment of ASD. The researchers discovered characteristic patterns of brain activity in people with ASD that reflect an inability to perceive themselves as social creatures.

P. Read Montague and colleagues published their findings in the February 7, 2008, issue of the journal Neuron, published by Cell Press.

Their experiments involved asking groups of high-functioning people with ASD and normal people to play a "social trust" game as their brains were scanned using functional magnetic resonance imaging. In this widely used imaging technique, harmless magnetic fields and radio waves are used to map brain flow in brain regions, which reflects brain activity.

In the game, an "investor" decides how much of a fund of money to send to a "trustee." The amount is tripled on the way to the trustee, and the trustee then decides what fraction to repay to the investor. The interaction is repeated ten times in each session. Previous studies had shown that the social game produces in normal people characteristic patterns of neural activity in the cingulate cortex, a region involved in higher brain activity.

The researchers found that, while people with ASD played the game the same as normal controls, the pattern of activity in their cingulate cortex indicated a diminished perception of themselves in a social interaction. The abnormality arose at the so-called "self" point in the game, where they were deciding how much to invest, and their brains were thus representing the social intent of their own behaviors.

The activity pattern seen in people with ASD during the game resembled the pattern seen in normal people when they played against a computer, in the absence of a social partner, noted the researchers.

The researchers concluded that their ability to quantify brain activity in people with ASD "may serve as a diagnostic tool, identify subtypes of autism, or be used to seek covariates in genetic databases." They wrote that "the present data suggest that a quantitative analysis of neural responses on tasks as simple as video watching may be of diagnostic and therapeutic utility." They suggested that the measurements they developed could be used in therapy to increase the ability of people with ASD to represent themselves in social interactions.

In a preview in the same issue of Neuron, Chris and Uta Frith wrote, "This is an exciting result because it suggests that some mechanisms of social interaction are intact in these high-functioning cases. What is the critical difference between the self phase and the other phase? We believe that the simple distinction of self versus other is not adequate.

"It involves higher-order mentalizing: you care what another person thinks of you, and even further, you care that the other person trusts you. You would not do this when playing against a computer. In autism there is no difference," wrote the Friths, who are at University College London.

----------------------------
Article adapted by Medical News Today from original press release.
----------------------------

The researchers include Pearl H. Chiu, Baylor College of Medicine, Houston, TX; M. Amin Kayali, Baylor College of Medicine, Houston, TX; Kenneth T. Kishida, Baylor College of Medicine, Houston, TX; Damon Tomlin, Baylor College of Medicine, Houston, TX; Laura G. Klinger, Department of Psychology, University of Alabama, Tuscaloosa, AL; Mark R. Klinger, Department of Psychology, University of Alabama, Tuscaloosa, AL; and P. Read Montague, Baylor College of Medicine, Houston, TX.

Source: Cathleen Genova
Cell Press

Paper Outlines Approach To Genetic Diagnosis In Autism
Taken from Medical News Today- News Dated 2/7/2008

By: Lippincott Williams & Wilkins

A practical, stepwise approach to diagnosing genetic causes of autism and related disorders is proposed in the January issue of Genetics in Medicine, official journal of the American College of Medical Genetics (ACMG), published by Lippincott Williams & Wilkins.

The three-tiered approach will yield a specific genetic diagnosis in approximately 40 percent of patients with autism-spectrum disorders, according to the report. The new approach was developed, based on the best available research evidence, by Drs. G. Bradley Schafer of University of Nebraska and Nancy J. Mendelsohn of Children's Hospitals and Clinics of Minnesota.

The number of patients diagnosed with autism-spectrum disorders including "classic" autism as well as related disorders such as Asperger's syndrome and Rett syndrome has increased dramatically in recent years. Despite strong evidence that autism is primarily a genetic disorder, diagnosis is still based mainly on behavioral factors. Clinical geneticists are challenged to provide the best possible genetic diagnosis and counseling services for patients and families affected by autism, even as research knowledge of the causes of autism genetic and otherwise continues to increase.

"For many practical reasons, a stepwise (tiered) evaluation is the preferred approach rather than performing a 'shotgun' evaluation in which dozens of tests are ordered as a matter of routine," Drs. Schafer and Mendelsohn write. "In our experience, this approach has a high level of acceptance with third-party payers and with families."

The essential first step before any genetic tests are done is pre-evaluation by a professional trained in autism diagnosis, including strict criteria and objective assessments. The examination should also include hearing tests, as children with hearing loss are sometimes mistakenly diagnosed with autism. Tests of cognitive (intellectual) function are recommended as well. While reduced cognitive ability can be part of autism, it is also true patients with severe cognitive impairment can have autistic-like symptoms.

The first tier of genetic evaluation includes tests that should be performed in nearly all children with no obvious cause of autism. For example, chromosome tests may identify fragile X syndrome a common cause of inherited mental impairment that may be accompanied by autistic symptoms. Testing for certain metabolic disorders or for rubella infection may pinpoint a specific cause of autism. If one of these causes is identified, no further genetic testing is needed, and patient/family counseling can begin.

If not, testing enters the second tier, including tests for specific gene mutations known to cause autism. The choice of tests may be guided by certain clinical characteristics. For example, autism in girls has been linked to mutations of a gene called MECP, while autism accompanied by abnormal head size may be related to mutations of the PTEN gene.

If necessary, testing proceeds to the third tier, possibly including a magnetic resonance imagine (MRI) scan of the brain. (Some doctors may recommend MRI scanning earlier in the testing process.) Even if the MRI scan doesn't show any specific cause of autism, it may still provide useful information for doctors and parents. Tests for other possible genetic causes may also be done, although the value of these tests is so far unclear.

Drs. Schaefer and Mendelsohn estimate that their structured approach would lead to a diagnosis in approximately 40 percent of patients with autism. This is substantially higher than the current 15 percent diagnosis rate, based on clinical genetic evaluation.

Insurers and others might question the cost-effectiveness of genetic testing for autism especially since, in many cases, identifying a specific cause won't have a major impact on patient management. However, Drs. Schaefer and Mendelsohn believe their approach to genetic diagnosis will have major benefits for families affected by autism. For some families, the results will provide important information on the risk of autism in future children.

For others, there is a clear benefit to knowing the cause of their child's condition. Discovering the correct diagnosis allows families to stop the 'diagnostic odyssey,' in which the child continues to go to multiple doctors getting un-needed and expensive tests. "It is our contention that all patients with autism should be offered a thorough diagnostic evaluation," Drs. Schaefer and Mendelsohn conclude.

About the American College of Medical Genetics

Founded in 1991, the ACMG (http://www.acmg.net) provides education, resources and a voice for the medical genetics profession. To make genetic services available to and improve the health of the public, the ACMG promotes the development and implementation of methods to diagnose, treat and prevent genetic disease. Members include biochemical, clinical, cytogenetic, medical and molecular geneticists, genetic counselors, and other health care professionals committed to the practice of medical genetics. Genetics in Medicine, now published monthly, is the official journal of the ACMG.

About Lippincott Williams & Wilkins

Wolters Kluwer Health (Conshohocken, PA), a division of Wolters Kluwer, is a leading provider of information and business intelligence for students, professionals, and institutions in medicine, nursing, allied health, pharmacy and the pharmaceutical industry. Major brands include traditional publishers of medical and drug reference tools and textbooks, such as Lippincott Williams & Wilkins and Facts & Comparisons; electronic information providers, such as Ovid Technologies, Medi-Span and ProVation; and pharmaceutical information providers Adis International and Source®. For more information, visit WKHealth.com.

Lippincott Williams & Wilkins
530 Walnut St.
Philadelphia, PA 19106
United States
http://www.lww.com

Measles, Mumps, And Rubella Vaccine Is Not Linked To Autism Spectrum Disorders
Taken from Medical News Today- News Dated 2/6/2008

By: Anna Sophia McKenney

The previously supposed link between autism the MMR jab, a vaccination against measles, mumps, and rubella, has been discredited, according to a study published in the Archives of Disease in Childhood on February 5, 2008. The MMR vaccine had been linked to the development of autism in the light of a 1998 publication, which has since been discredited by the scientific community.

Autism spectrum disorders are a set of psychological conditions that are similar to autism, characterized by abnormal social interaction, restricted interests, and repetitive behavior. They are found in approximately 6 to 12 cases per 1000 children depending on the specific diagnostic criteria that are applied.

The group studied was taken from a population of approximately 57,000 in one area of Southern England. Almost 250 children, born between 1990 and 1991 and aged between 10 and 12, were selected for examination. Of these: 98 children had an autism spectrum disorder; 52 were characterized as children with special educational needs, but no evidence of autism spectrum disorders; and 90 children were developing normally. A set-back or regression early in development had been experienced by some of the autistic children. All of the children in the sample had been administered the MMR vaccine, but not all had been given both doses.

The study analyzed blood samples from each child to investigate the presence of any circulating measles virus or increased antibody levels. Such results might indicate the presence of persistent measles infection or an abnormal immune response. this examination revealed no significant difference between the two groups of children. This conclusion was not affected by whether the child was administered both MMR doses, or by any regression of development.

Additionally, no bowel symptoms (entercolitis) were found in the autistic children, regardless of any early regression. Notably, autistic children and children with special educational needs had fewer instances of the second vaccination. This could reflect parental concern about vaccination following the diagnosis of a developmental abnormality.

This is now the third, and largest, study which has failed to show a link between the MMR jab and autism, note the authors.

Measles vaccination and antibody response in autism spectrum disorders
G Baird, A Pickles, E Simonoff, T Charman, P Sullivan, S Chandler, T Loucas, D Meldrum, M Afzal, B Thomas, L Jin, D Brown
Archives of Disease in Childhood 2008;
doi: 10.1136/adc.2007.122937
Click Here For Abstract

Written by Anna Sophia McKenney
Copyright: Medical News Today

New Research Reveals Thousands Of Adults With Autism Are Isolated And Ignored, UK
Taken from Medical News Today- News Dated 2/5/2008

The National Autistic Society (NAS) has launched a new report which reveals that nearly two thirds (63%) of adults with autism in England do not have enough support to meet their needs. Based on the largest ever UK survey on the experiences of adults with autism and their families, it reveals for the first time the miserable daily reality for many thousands of adults with autism who feel isolated and ignored, are unable to access the required support, and are often completely dependent on their families.

The I Exist report signals a new phase in the think differently about autism campaign. It is the first time a major campaign has focussed on the needs of adults with the disability. The findings of the report reveal a devastating lack of services, as one adult with autism told us: "I only received help when I became suicidal and seriously depressed. At this point the help was too late."

Key findings from the report are:

- Nearly two thirds (63%) of adults with autism do not have enough support to meet their needs.

- 92% of parents are worried about their son or daughter's future when they are no longer able to care for them.

- 61% of adults with autism rely on their family financially and 40% live with their parents.

- 60% of parents believed that a lack of support has led to higher support needs later on.

- At least 1 in 3 adults with autism are experiencing severe mental health difficulties due to a lack of support.

- 67% of local authorities do not keep a record of how many adults with autism there are in their area and 65% do not even know how many adults with autism they actually support.

Amanda Batten, NAS head of policy and campaigns said: "For too long adults with autism have found themselves isolated and ignored; they struggle to access support and are often dependent on their families. It does not have to be like this - 'I Exist' is the message from adults with autism who want their needs understood and the barriers to support removed. The right help at the right time can have a profound effect - we are calling on the government to think, act, and transform lives".

The NAS is calling on the government to fund a prevalence study into the number of adults with autism in the UK. The survey identified a fundamental problem: neither the Government, nor local authorities, nor primary care trusts know how many adults with autism there are in England. This makes it extremely difficult to plan and deliver the services that people with autism need.

The NAS is calling for better understanding of autism - health and social care staff who carry out assessment should be trained in autism. Many professionals fail to understand the complexities of the condition, which can lead to adults with autism receiving inadequate support. The way services are structured also means many fail to qualify for any support at all. This exclusion from support increases isolation and can escalate to mental health problems and other serious difficulties.

The NAS is calling for a range of support services at the right time to meet the needs of all adults with autism. Many feel isolated, having to rely solely on their parents or family. Increased 'low level' support, such as social skills training or access to social groups may prevent needs from escalating and helps those with the condition to gain independence and improve the quality of their lives.

The NAS is calling on the Government to lead the way. Current Government policies do not adequately meet the needs of adults with autism. If this is to change, national leadership is required from the Government.

The I Exist report is launched on 5th February 2008 at The House of Commons. The think differently about autism awareness campaign was launched in October 2007. For more information about the campaign and to download copies of the I Exist report, visit http://www.think-differently.org.uk.

The statistics are for England only. Separate reports were produced for Scotland and Wales. In England, 1,412 adults with autism (18 or over) and their families/carers responded to the survey.

- Autism is a lifelong developmental disability that affects how a person communicates with, and relates to, other people. It also affects how they make sense of the world around them. It is a spectrum condition, which means that, while all people with autism share certain difficulties, their condition will affect them in different ways. Some people with autism are able to live relatively independent lives but others may have accompanying learning disabilities and need a lifetime of specialist support. People with autism may also experience over- or under-sensitivity to sounds, touch, tastes, smells, light or colours.

- Asperger syndrome is a form of autism. People with Asperger syndrome are often of average or above average intelligence. They have fewer problems with speech but may still have difficulties with understanding and processing language.

The National Autistic Society is the UK's leading charity for people with autistic spectrum disorders and their families. Founded in 1962, it continues to spearhead national and international initiatives and provide a strong voice for all people with autism. The NAS provides a wide range of services to help people with autism and Asperger syndrome live their lives with as much independence as possible.

The NAS relies on the support of its members and donors to continue its vital work for people with autism. To become a member, make a donation or to find out more about the work of the NAS, visit the NAS website http://www.autism.org.uk or call the NAS donation line 08702 33 40 40, (national rates apply).

For more information about autism and for help in your area, call the NAS Autism Helpline on: 0845 070 4004 10am-4pm, Monday to Friday, (local rates apply).

The NAS Autism Services Directory is the UK's most comprehensive directory of services and events for people with autism. Visit http://www.autism.org.uk/autismdirectory to find autism services and support networks in your area.

National Autistic Society

New Study Of MMR Vaccine Finds No Link To Autism, UK
Taken from Medical News Today- News Dated 2/5/2008

There is no evidence of a link between the MMR (measles, mumps, rubella) vaccine and autism according to a new independent virus study - the most comprehensive ever undertaken - published today. The new report comes ten years after the original Lancet article by Dr Wakefield called into question the safety of the MMR vaccine.

The joint report by Guys Hospital, the Health Protection Agency and Manchester University, looked for the measles virus and antibody levels in children. It linked very careful assessment and diagnosis of a child's condition, with expert analysis of blood samples carried out by laboratories recognised as world leading by the World Health Organization.

The study found that there was no difference between the results from autistic and non-autistic children.

Welcoming the study, published today in the Archive of Diseases of Childhood, director of immunisation at the Department of Health Professor David Salisbury said:

"It's natural for parents to worry about the health and well-being of their children and I hope that this study will reassure them that there is no evidence linking the MMR vaccine to autism."

Dr David Brown, from the Health Protection Agency who worked on the study added:

"The study found no evidence linking MMR to autistic spectrum disorder and the paper adds to the overwhelming body of evidence from around the world supporting the use of MMR.

"Public confidence in the MMR vaccine continues to remain high as the uptake for those receiving their first dose has stayed stable. However, it is also important to remember that children should complete their full course of MMR vaccine or optimum protection."

This virus study reached the same conclusion as a number of large epidemiological studies. The studies found that rate of autism in children who have no had the MMR vaccine is the same as those who have.

Notes:

1. The study was a collaboration between the Health Protection Agency (HPA), Guys Hospital and Manchester University.

2. MMR is the safest and most effective way of protecting children from measles, mumps and rubella. MMR has been used extensively and safely around the world for nearly 30 years - with over 500 million doses given in over 100 countries. MMR is also recognised by the World Health Organisation as having an outstanding safety record.

3. MMR is a combined vaccine usually given to children between 12 and 15 months of age and again at around four years, as protection against measles, mumps and rubella. MMR was introduced into the UK immunisation programme in 1988 and has substantially reduced the incidence of death and disability due to these three infections.

4. Latest HPA uptake figures for MMR show that uptake has remained stable at 85.2 per cent (quarter July - Sept 2007).

More information for parents and health professionals is also available on http://www.immunisation.org.uk

Blood Vessels Struggle To Relax In Diabetics
Taken from Medical News Today- News dated 2/3/2008

By: Toni Baker

One way diabetes is bad for your blood vessels is by creating too much competition for an amino acid that helps blood vessels relax, researchers say.

That amino acid, L-arginine, is broken down by the enzyme arginase to urea, which helps the body eliminate toxins resulting from the proteins we eat. Diabetics have a lot of arginase activity, which means they use a lot more L-arginine, says Dr. Maritza Romero, postdoctoral fellow at the Medical College of Georgia and lead author of the paper published in the current issue of Circulation Research.

It also means too little L-arginine is available to help nitric oxide synthase make nitric oxide, the powerful vasodilator that helps blood vessels relax, says Dr. Romero, who works in the lab of Dr. R. William Caldwell, chair of the MCG Department of Pharmacology and Toxicology and the study's corresponding author.

Researchers also found the amino acid, L-citrulline, as well as statins, compounds known to lower cholesterol, prevent elevation of arginase activity, restoring normal dilation abilities in animal models of type 1 diabetes. In fact, L-citrulline can be recycled into L-arginine.

Now they want to know specific factors and pathways involved in arginase activation and develop pharmaceutical agents to combat excessive arginase activity in diabetes. They also suggest clinical trials of L-citrulline as a supplemental therapy for diabetics with vascular problems.

Their findings also help explain why L-arginine supplement, marketed to treat hypertension, chest pain, heart failure and more, may not work long term. In the January 4, 2006 issue of the Journal of the American Medical Association, Johns Hopkins researchers reported that a clinical trial of patients taking an L-arginine supplement following a heart attack didn't improve in their vascular tone or their hearts' ability to pump. In fact, more patients died who were taking L-arginine than placebo and the study was closed with the recommendation the supplement not be used by heart attack patients. The supplement still is widely marketed.

"The findings of increased arginase I activity in diabetes may limit other therapeutic approaches proposed for early endothelial dysfunction such as oral L-arginine supplementation," Drs. Thomas L. Luscher and Jan Steffel, of the University of Zurich Cardiovascular Research Institute write in an accompanying editorial. "Although dietary L-arginine supplementation has been shown to exert vascular protective effects in certain clinical settings, this approach is unlikely to be effective in diabetes, if the results of this study can be confirmed by patients in vivo. In fact, the findings of Romera et al may provide a possible explanation for the unexpected neutral or even adverse effects of oral L-arginine in some clinical studies, in particular patients with coronary artery disease and infarction."

A short intravenous course of L-arginine may provide short-term improvement in blood vessel tone, Dr. Romero notes. However most of L-arginine ingested goes directly to the liver to be broken down, not the bloodstream where it can promote relaxation of blood vessels, Dr. Romero says.

Arginase also is associated with vascular problems related to aging, hypertension, sickle cell disease, atherosclerosis and erectile dysfunction, Dr. Romero says. L-citrulline already is taken by some sickle cell patients to reduce breath-taking fibrosis in their lungs. In addition to helping the body turn toxins into urea that can be safely eliminated from the body, arginase also helps in collagen formation and cell proliferation, but too much can be bad. In fact, Drs. Caldwell and Romero are pursuing studies of how increased arginase activity may harden blood vessel walls.

----------------------------
Article adapted by Medical News Today from original press release.
----------------------------

Source: Toni Baker
Medical College of Georgia

Infants Eliminate Mercury In Vaccines Faster Than Previously Thought - It Does Not Have Time To Build Up In Babies' Bodies
Taken from Medical News Today- News dated 2/3/2008

By: Christian Nordqvist

Mercury, which can be used as a vaccine preservative is eliminated by infants faster than previously thought, according to a small study published in the journal Pediatrics. Many people have suspected that thimerosal, a mercury preservative pediatric vaccine ingredient which was used in the USA until the late 1990s, may have been an important contributory factor to rising autism rates in California. Several studies, including this one, seem to indicate thimerosal is not the link.

Lead author, Michael Pichichero, M.D., professor of Microbiology/Immunology, Pediatrics and Medicine, University of Rochester, said "Thimerosal has been used for decades, but the surge in vaccinations caused fear that possible accumulations of ethyl mercury, the kind in thimerosal, might exceed safe levels - at least, when based on the stringent risk guidelines applied to its better-understood chemical cousin, methyl mercury, which is associated with eating fish."

However, it seems that the human body eliminates the type of mercury that is included in vaccines (thimerosal) 10 times faster than the mercury that may be ingested as a result of eating fish.

The study, which was carried out at the R. Guitierrez Children's Hospital, Buenos Aires, Argentina, consisted of three groups.

-- Group One. 72 newborns.
-- Group Two. 72 babies aged two months.
-- Group Three. 72 babies aged 6 months.
(Thimerosal is still routinely used in vaccines in Argentina.)

The scientists gave each baby a thimerosal-containing vaccine. Most of the babies had their blood mercury, stool mercury and urine mercury levels tested prior to vaccination and then again after vaccination.

They found mercury in all the post-vaccination stool samples. They did not however, find any mercury in the post-vaccination urine tests. This indicated that the mercury was eliminated through the gut. A good sign as mercury at high levels is toxic to kidneys. No damage to renal tissues were found, the authors report.

The researchers found that the half-life of ethyl mercury in the blood was 3.7 days, compared to 44 days for mercury found in some foods.

Pichichero said "Until recently, that longer half-life was assumed to be the rule for both types of mercury. Now it's obvious that ethyl mercury's short half-life prevents toxic build-up from occurring. It's just gone too fast."

The scientists found that the 6-month old babies, who had received more thimerosal than the babies in the other two groups, had the same blood-mercury levels as the pre-vaccination two-month old babies. This indicates that the mercury is eliminated between each bout of pediatric vaccines.

The authors wrote "Because of the differing pharmacokinetics of ethyl and methyl mercury, exposure guidelines based on oral methyl mercury in adults may not be accurate for risk assessments in children who receive thimerosal-containing vaccines."

Even though the California Department of Health removed thimerosal from the majority of US childhood vaccines in 2001, autism rates in the state continue to rise significantly, while thimerosal is still used in pediatric vaccines in many other parts of the world.

Thimerosal has bacteria-killing properties. It has been a vaccine ingredient for over seventy years. However, when the EPA (Environmental Protection Agency) announced in 1999 that the cumulative exposure children typically received in vaccines might exceed a safe level for intake based on methyl mercury statistics (even this "safe level" was placed ten times lower than the amount held to pose real risk), public health officials, along with the American Academy of Pediatrics, recommended it be removed - even though there was still no concrete evidence of harm. The decision demanded a new formulation be created and administered - at a higher cost.

Pichichero added "Though it's reassuring to affirm that these immunizations have always been safe, our findings really have greater implications for world health. Replacing the thimerosal in vaccines globally would put these vaccines beyond what the world community could afford for its children. It's a relief we haven't cause to do that."

Pichichero was a consultant to the World Health Organization, and his research has held considerable weight in the WHO decision to continue using thimerosal in vaccines administered in nations outside the United States. Pichichero had also been a consultant for GSK Biologicals, sanofi pasteur, Wyeth Pharmaceuticals and MedImmune - all vaccine manufacturers.

The National Institute of Allergy and Infectious Diseases of the National Institutes of Health (NIH) funded this study.
"Mercury Levels in Newborns and Infants After Receipt of Thimerosal-Containing Vaccines."
Michael E. Pichichero, MD, Angela Gentile, MD, Norberto Giglio, MD, Veronica Umido, MD, Thomas Clarkson, PhD, Elsa Cernichiari, MSc, Grazyna Zareba, PhD, Carlos Gotelli, PhD, Mariano Gotelli, PhD, Lihan Yan, MS and John Treanor, MD
Pediatrics Vol. 121 No. 2 February 2008, pp. e208-e214 (doi:10.1542/peds.2006-3363)
Click here to view abstract online

Written by - Christian Nordqvist
Copyright: Medical News Today

Supporting Brain Imaging Studies Of Children With Autism And Dyslexia
Taken from Medical News Today- News dated 2/17/2008

By: Charles Jennings

Two researchers at MIT's McGovern Institute for Brain Research will head an ambitious new project to study the origins of autism and dyslexia, supported by a $8.5M grant from the Ellison Medical Foundation. The project leaders, Nancy Kanwisher and John Gabrieli, are prominent experts in neuroimaging and human brain development.

Autism and dyslexia are complex brain disorders that first appear in early childhood. Autism impairs social interactions and communication, and affected individuals may engage in bizarre and repetitive behaviors. Dyslexia is a learning disorder that manifests itself as reading difficulty despite adequate education and otherwise normal perceptual and intellectual abilities.

Little is known about the causes of either disorder, although both are highly heritable. In both cases, it is thought that the earlier treatments begin, the more effectively they help the child compensate. Thus, it is important to develop methods for early diagnosis, and scientists believe that non-invasive brain imaging may be a means to this end.

Human neuroimaging methods have advanced greatly over the last five years, and a major emphasis of the new project will be to translate these advances to pediatric neuroimaging. Brain imaging with young children presents many challenges, not least of which is their inability to lie still for long periods in the scanner. The McGovern investigators will collaborate with neuroimaging experts Larry Wald, Bruce Fischl and Ellen Grant at Massachusetts General Hospital (MGH), who will develop scanning coils designed specifically for children's heads, along with new procedures to shorten scan times and methods to analyze data from brains that are not yet fully developed.

"We expect these technological advances to radically improve pediatric neuroimaging and help us make major strides in understanding typical and atypical human brain development," comments Kanwisher, the Ellen Swallow Richards Professor of Cognitive Neuroscience. Kanwisher, a member of the National Academy of Sciences, will lead the work on autism. Gabrieli, who is the Grover Hermann Professor in Health Sciences and Technology and Cognitive Neuroscience, will lead the dyslexia component.

The researchers plan to study a cohort of children, scanning them at regular intervals to examine the development of brain systems that have been implicated in social cognition (for autism) or reading (for dyslexia). They hope to include children who, because of their family history, are at increased risk for autism or dyslexia and to compare them to controls with no special risk factors. The researchers will also look at children who have already been diagnosed, looking for telltale markers that could be useful for diagnosing and tracking the progression of the disorders. They also plan to examine the effects of therapeutic interventions, in the hope of identifying markers that will guide the development of more effective therapies. In the longer term, they hope to link their findings to future advances in understanding the genetics of these disorders. By combining both approaches, says Gabrieli, it may eventually be possible to develop genetic tests that will be easier and less expensive than brain scans.

Kanwisher and Gabrieli will also collaborate with Rebecca Saxe, Assistant Professor of Neurobiology in the MIT Department of Brain and Cognitive Sciences, who will focus on the development of neural mechanisms for social cognition to identify the earliest stages at which infants' brains become specialized to perceive other people and understand language. Other collaborators are Laura Schulz at MIT, April Benasich at Rutgers University, Maryanne Wolf at Tufts University, David Pauls and Matti Hamalainen at MGH, and Glenn Rosen and Albert Galaburda at Beth Israel Deaconess Medical Center.

----------------------------
Article adapted by Medical News Today from original press release.
----------------------------

About the McGovern Institute

The McGovern Institute for Brain Research at MIT is led by a team of world-renowned, neuroscientists committed to meeting two great challenges of modern science: understanding how the brain works and discovering new ways to prevent or treat brain disorders. The McGovern Institute was established in 2000 by Patrick J. McGovern and Lore Harp McGovern, who are committed to improving human welfare, communication and understanding through their support for neuroscience research. The director is Robert Desimone, formerly the head of intramural research at the National Institute of Mental Health. Further information is available at: http://web.mit.edu/mcgovern

About the Ellison Medical Foundation.

The Ellison Medical Foundation was established in 1998 by Lawrence J. Ellison, the founder and chief executive officer of Oracle. The Foundation supports basic biomedical research on aging relevant to understanding lifespan development processes and age-related diseases and disabilities, as well as scientific advancement in other research areas that are not sufficiently funded by traditional sources in the U.S. Further information is available at: http://www.ellisonfoundation.org/

Source: Charles Jennings
McGovern Institute for Brain Research

Registration Now Open for ASA's Day on the Hill 2008
Taken from The Autism Society of America- News dated 1/17/2008

By: Carin Yavorcik Be a voice for autism in Washington ASA will host its 2008 Day on Capitol Hill March 12-13 to increase awareness and understanding of autism issues among federal policymakers and to build support for ASA’s legislative priorities, which include services legislation and funding for autism-related programs. People on the autism spectrum and their families are constantly fighting for rights, and advocacy is critical in ensuring that these individuals and families get the services, supports and resources they need. It is up to us - the autism community - to be a voice for autism on Capitol Hill. We must educate policymakers about this important issue and why we need their help. This action-packed event will include one day of extensive training on key legislative priorities, workshops to improve your advocacy skills, sessions on autism and the upcoming elections, and other exciting topics. We urge you to join us for this exciting and important event. ASA’s Day on the Hill 2008 also coincides with the second meeting of the re-formed Interagency Autism Coordinating Committee (IACC) on March 14. Participants may want to consider staying an extra day to attend this public meeting. IACC was originally established by the Children’s Health Act of 2000, and was re-authorized by the Combating Autism Act of 2006 to coordinate federal research on autism spectrum disorders. ASA President and CEO Lee Grossman and ASA board member Stephen Shore are both members of the committee. For a summary of the last meeting, check out ASA coverage.

National Conference On Autism To Be Held In Southwest Florida
Taken from MedicalNewsToday.com: Autism News dated 1/17/2008

A conference on autism, "The Road to Best Practice in Autism," will be presented for physicians, parents and educators on Saturday, April 19, 2008, 8 a.m. to 4 p.m., in the Student Union Ballroom at Florida Gulf Coast University, Fort Myers, Fla. National experts in the research and study of autism and autism spectrum disorders will address a variety of topics such as the causes of autism, evaluation and treatment, early identification and intervention, treatments for symptoms associated with autism, arrangement of long-term finance for persons with disabilities, sexuality, and more.

Autism is a complex, lifelong developmental disability that is sometimes referred to as an "equal opportunity disorder" as it strikes families of all races, education levels and family incomes. It affects a child's social growth and behavior, sensory, communication and learning. At this time, autism is not curable but it is treatable. 1 in 150 children in the United States is affected by autism (Source: Centers for Disease Control).

"We're very pleased to partner with Florida Gulf Coast University to present such an in depth look at autism as well as offer a symposium with essential topics. The conference will offer pertinent information for professionals in the medical and educational fields as well as parents and caregivers, and all those affected by and/or interested in the study of autism," said conference Chairman Armando Galella, executive director of Eden Florida, a non-profit agency that offers lifespan services for children and adults with autism.

Keynote presenters include Robert L. Hendren, D.O., and Peter Mundy, Ph.D., professors at the University of California, Davis campus (UC, Davis) and the M.I.N.D. Institute, an international, multidisciplinary research organization, committed to excellence, collaboration and hope, striving to understand the causes and develop better treatments and ultimately cures for neurodevelopmental disorders.

Hendren is president of the American Academy of Child and Adolescent Psychiatry, a professor of Psychiatry, executive director of the M.I.N.D. Institute and chief physician of the Child and Adolescent Psychiatry program, at UC Davis.

Mundy is professor of Neurodevelopmental Disorders and Education at the School of Education as well as the director of education research at the M.I.N.D. Institute in the department of Child & Adolescent Psychiatry, UC Davis.

Other conference presenters include Peter Gerhardt, Ed.D, and Patrick McGreevy, Ph. D., BCBA.

Gerhardt is president and chairman of the Scientific Council for Organization for Autism Research, a consultant and author or co-author of articles and book chapters on the needs of adults with autism spectrum disorder, the school-to-work-transition process and analysis and intervention of problematic behavior.

McGreevy is a board certified behavior analyst with an international private practice serving children and adults with autism and other developmental disabilities. He is an adjunct professor with the Florida Institute of Technology teaching applied behavior analysis. His are of expertise is verbal behavior and intervention for self-injurious behavior and aggression.

Other speakers on a broad range of topics related to autism will be featured during break-out and panel discussions.

Sponsored by Florida Gulf Coast University and the College of Education and the College of Arts and Sciences, The Road to Best Practice in Autism conference is free and open to the public. Reservations are required by registering at http://www.fgcu.edu/events/promisingpathways by April 10, 2008, or by calling 239-992-4680.

Florida Gulf Coast University

The Garden City Group, Inc. Makes Donation To Autism Speaks
Taken from MedicalNewsToday.com: Autism News dated 1/16/2008

The Garden City Group, Inc. (GCG), and its associates contributed $7368.20 to Autism Speaks as part of its annual charitable giving program. The goal of Autism Speaks is to change the future for all who struggle with autism spectrum disorders. Donations were raised by GCG associates participating in functions such as fleece and shirt sales, jeans days, and bake sales.

"GCG is proud to make this donation to help individuals with autism and their families," said GCG CEO David Isaac. "We sincerely hope that 2008 brings us closer to finding a cure for this condition that affects so many American families. Autism Speaks has dedicated itself to finding a cure," Isaac said. "And their commitment is an inspiration to us."

The mission of Autism Speaks is to change the future for all who struggle with autism spectrum disorders. Autism Speaks is dedicated to funding global biomedical research into the causes, prevention, treatments, and cure for autism; to raising public awareness about autism and its effects on individuals, families, and society; and to bringing hope to all who deal with the hardships of this disorder. Autism Speaks is committed to raising the funds necessary to support these goals.

The Garden City Group, Inc. , a subsidiary of Crawford & Company, administers class action settlements, designs legal notice programs, manages Chapter 11 administrations, and provides expert consultation services.

Based in Atlanta, Georgia, Crawford & Company is the world's largest independent provider of claims management solutions to insurance companies and self-insured entities, with a global network of more than 700 offices in 63 countries. Major service lines include property and casualty claims management, integrated claims and medical management for workers' compensation, legal settlement administration, including class action and warranty inspections, and risk management information services. The Company's shares are traded on the NYSE under the symbols CRDA and CRDB.

Crawford & Company

Moving 2 Steps Closer To Understanding The Genetic Underpinnings Of Autism
Taken from MedicalNewsToday.com: Autism News dated 1/11/2008

The latest issue of the American Journal of Human Genetics (AJHG), describes what might be a corner piece of the autism puzzle - the identification and subsequent validation of a gene linked to the development of autism by three separate groups of scientists. An accompanying commentary by Dr. Dietrich Stephan, Director of the Neurogenomics Division at the Translational Genomics Research Institute's (TGen), further explains the findings.

Autism is a perplexing disease whose cause remains unexplained. It has long been suggested that environmental factors, linked with genetics, play a role in causing the disorder. As recently as last week, researchers in California published a study that found no proof linking autism with a mercury-based preservative found in childhood vaccines. While there are no clear-cut answers, researchers are one step closer to understanding autism's genetic cause.

In March 2006, Dr. Stephan, Director of TGen's Neurogenomics Division, led a team of researchers at TGen and collaborators at the Clinic for Special Children (CSC) in Strasburg, PA, that identified a gene called CNTNAP2. When mutated, this gene indicated a predisposition to autism in a specific population of Old Order Amish children from Pennsylvania.

One of the most important principles in science is the ability to replicate results. Now, three groups of researchers from Yale University, the University of California, Los Angeles, and the Johns Hopkins University, have replicated the initial finding in the general population, unequivocally implicating this gene as causing the newly defined Type 1 autism. All three studies plus Dr. Stephan's commentary are published in the January edition of AJHG.

According to Dr. Erik Puffenberger, Laboratory Director of the Clinic for Special Children, "Our previous finding of association between loss of CNTNAP2 function and autistic behavior has been validated in the general population. This is a very exciting step for autism research. It also highlights the enormous potential of the 'small science' approach. Our initial work used only four affected Amish children. Careful study of these four patients uncovered the association between CNTNAP2 and autistic behaviors. From that small beginning, CNTNAP2 has now been implicated as a significant risk factor for autism."

Autism spectrum disorder (ASD) is a broadly used term for a set of developmental disorders that emerges in infants and young children. ASD impairs a child's intuitive thought, language and social development to varying degrees. Most individuals diagnosed with ASD require lifelong supervision and care; the most severely affected are unable to speak. ASD is the fastest growing developmental disability in the U.S. Two decades ago, roughly one child in 10,000 was diagnosed with ASD; it now affects one in 150 births.

"The field of genetics is replete with examples where researchers are unable to reproduce results. Here we have independent confirmation in multiple groups using large samples sizes," said Dr. Stephan. "Now that the results of the initial CNTNAP2 gene finding have been replicated, it strongly supports the notion that the 'broken version' of CNTNAP2 is recognized as a cause of autism in the general population."

In collaboration with the Phoenix-based Southwest Autism Research & Resource Center (SARRC), a nonprofit community-based organization dedicated to research, education and resources for individuals with ASDs and their families, TGen will apply these research findings to children in Arizona who have been diagnosed with ASD.

"The heterogeneity of the disorder has frustrated our past efforts in the search for causes of autism," said Dr. Raun Melmed, medical director and co-founder of SARRC. "This exciting discovery will further our capacity to individualize approaches to the diagnosis and treatment of autism."

The next step, noted Dr. Stephan in the commentary, is to develop a diagnostic to test for the CNTNAP2 mutation. If physicians could implement behavioral interventions early enough, children with autism may have a better chance of developing normally.

----------------------------
Article adapted by Medical News Today from original press release.
----------------------------

The initial discovery of CNTNAP2 in autism was published in the March 30, 2006, issue of the New England Journal of Medicine.

About TGen

The Translational Genomics Research Institute (TGen) is a non-profit 501(c)(3) organization focused on developing earlier diagnostics and smarter treatments. Translational genomics research is a relatively new field employing innovative advances arising from the Human Genome Project and applying them to the development of diagnostics, prognostics and therapies for cancer, neurological disorders, diabetes and other complex diseases. TGen's research is based on personalized medicine. The institute plans to accomplish its goals through robust and disease-focused research.

About the Clinic For Special Children

The Clinic for Special Children was established in 1989 to provide early diagnosis, affordable laboratory services, and comprehensive medical and nutritional care for Old Order Amish and Mennonite children that suffer from genetic disorders. The clinic mission encompasses four aims: 1) Make high-quality medical care for special children accessible, affordable, and culturally effective; 2) Develop comprehensive methods of newborn screening and follow-up care for genetic disorders prevalent among the Plain people; 3) Develop practical clinical applications for modern molecular genetic technologies; and 4) Elucidate disease mechanisms for the purpose of improving patient treatment and outcome. Clinical work at the CSC is funded by private donations from individuals, foundation contributions, and an endowment fund established for this purpose. Many collaborating scientists and laboratories donate specialized services. The CSC receives no money from state or federal sources and is a private non-profit 501(c)(3) charitable institution.

About SARRC

Founded in 1997, the Southwest Autism Research & Resource Center (SARRC) is a nonprofit, community-based organization dedicated to autism research, education and resources for children and young adults with autism spectrum disorders (ASDs) and their families. SARRC undertakes self-directed and collaborative research projects, serves as a satellite site for national and international projects, and provides up-to-date information, training and assistance to families and professionals about ASDs. For more information about SARRC, visit http://www.autismcenter.org/.

Source: Amy Erickson
The Translational Genomics Research Institute

New Genetic Link To Autism Identified
Taken from MedicalNewsToday.com: Autism News dated 1/11/2008

UCLA scientists have used language onset - the age when a child speaks his first word - as a tool for identifying a new gene linked to autism. The team also discovered that the gene is most active in brain regions involved with language and thought. Interestingly, evidence for the genetic link came from the DNA of families with autistic boys, not those with autistic girls.

The American Journal of Human Genetics publishes the findings in its Jan. 10 online edition, which also features two studies from research teams at Yale and Johns Hopkins that used different methods that pinpointed the same gene. The coincidence suggests that the gene, called contactin-associated protein-like 2 (CNTNAP2), likely plays a key role in the development of autism.

"This gene not only may predispose children to autism," said Dr. Daniel Geschwind, principal investigator and Gordon and Virginia MacDonald Distinguished Professor of Human Genetics at the David Geffen School of Medicine. "It also may influence the development of brain structures involved in language, providing a tangible link between genes, the brain and behavior."

Children normally utter their first word by age 1. Children with autism, however, can be speech-delayed by many months or even years. Some never speak language at all. Late language onset is a symptom shared by most children with autism.

In an earlier study, the UCLA investigators studied the DNA of 291 families nationwide who had donated blood samples to the Los Angeles-based Autism Genetic Resource Exchange. Each family had at least one autistic child; youngsters who had never spoken were excluded. The findings connected a specific region of Chromosome 7, called 7q35, to autism.

In the current study, the researchers scrutinized every gene in the 7q35 region using DNA samples from 172 families. They identified four promising genes; one of the candidates was CNTNAP2.

To verify their findings, the scientists conducted a second test on a new group of 304 families. The CNTNAP2 gene showed up consistently, confirming its implication in language development.

In a second approach, the researchers examined CNTNAP2's presence in early brain tissue and discovered that the gene was most active in developing brain structures involved in language and thought.

Postdoctoral fellow Brett Abrahams, who led this part of the research, explains the finding's significance by comparing the brain to a house.

"We know that different rooms in houses serve different purposes," said Abrahams. "For example, if an item only appears in the kitchen, it makes sense to assume it's involved in cooking. Or if we find an object only in the bedroom, it's likely connected to sleeping.

"The fact that we found CNTNAP2 concentrated in the brain's structures that are involved in higher cognition gives us strong clues about how its disruption might adversely shape brain development, including speech and language," he said.

In an unexpected third finding, the scientists found that statistical evidence for the gene was strongest in families with autistic boys. Less of an association appeared in families with autistic boys and girls, or in families with autistic girls only.

"Autism strikes boys three times as often as girls," said Maricela Alarcon, first author and UCLA assistant professor in residence of neurology. "This finding may partly explain why."

The 3:1 gender ratio between boys and girls also applies to rates of attention deficit disorders, learning disabilities and language disorders.

"It will be interesting to learn whether CNTNAP2 also plays a role in language development in non-autistic children," observed Alarcon. "Our next step will be to identify more traits, such as seizures or other symptoms, that will help us track down additional genes linked to the disorder."

----------------------------
Article adapted by Medical News Today from original press release.
----------------------------

Coauthors included Jacqueline Duvall, Julia Perederiy, Jamee Bomar, Stanley Nelson and Rita Cantor, all from UCLA. Jennifer Stone of Harvard University, Jonathan Sebat and Michael Wigler of Cold Spring Harbor Laboratory, and Christa Martin and David Ledbetter of Emory University also contributed to the research.

The study was primarily supported with funding from the National Institute of Mental Health, National Institute of Neurological Disease and Stroke, Cure Autism Now Foundation and UCLA Center for Autism Research and Treatment. The authors had no competing financial interests.

Source: Elaine Schmidt
University of California - Los Angeles

Autism Risk Higher In People With Gene Variant
Taken from MedicalNewsToday.com: Autism News dated 1/11/2008

Scientists have found a variation in a gene that may raise the risk of developing autism, especially when the variant is inherited from mothers rather than fathers. The research was funded by the National Institute of Mental Health (NIMH), part of the National Institutes of Health.

Inheriting the gene variant does not mean that a child will inevitably develop autism. It means that a child may be more vulnerable to developing the disease than are children without the variation.

The gene, CNTNAP2, makes a protein that enables brain cells to communicate with each other through chemical signals and appears to play a role in brain cell development. Previous studies have implicated the gene in autism, and in this study researchers were able to link a specific variation in its structure to the disease.

Results of the study were reported online January 10 in the American Journal of Human Genetics, by Aravinda Chakravarti, Ph.D., Dan E. Arking, Ph.D., and colleagues from the Johns Hopkins University School of Medicine, with Edwin Cook, M.D., and colleagues from the University of Illinois at Chicago.

"Autism is highly heritable. Identifying the genes involved is crucial to our ability to map out the pathology of this isolating and sometimes terribly disabling disease, which currently has no cure," said NIMH Director Thomas R. Insel, M.D.

Autism is a developmental brain disorder that impairs basic behaviors needed for social interactions, such as eye contact and speech, and includes other symptoms, such as repetitive, obsessive behaviors. The symptoms sometimes cause profound disability, and they persist throughout life. Treatments may relieve some symptoms, but no treatment is fully effective in treating the core social deficits.

Although the cause of autism is not yet clear, studies of twins have shown that genes play a major role. It is likely that variations in many genes, influenced by environmental factors, interact during brain development to cause vulnerability to the disease. These genes have yet to be identified. Several candidates, including CNTNAP2, have been suggested.

The assertion that the CNTNAP2 gene appears to be involved is strengthened by the fact that each of the different analytical approaches the researchers used in this study led to the same conclusion. Results were replicated in a second, larger group of participants, further implicating the gene. Together, the two groups of participants comprised one of the largest autism studies reported to date.

The first part of the study included 145 children with autism and their parents, families that had two or more children with autism. Using a technique called genome-wide linkage analysis, the researchers found that a chromosome, 7q35, appeared to be linked to the disease.

Looking deeper into that chromosome, they identified a gene - CNTNAP2 - that contained a variant relevant to autism. Where a single segment of the genetic code could contain either the chemical base adenine or thymine, children with autism tended to have inherited the thymine variant.

To validate these findings, the researchers studied a separate group of participants; 1,295 children with autism and their healthy parents. The scientists again found that children with autism had higher rates of the thymine variant in the CNTNAP2 gene than would be expected to occur by chance.

When the researchers combined the data from the studies, they found that children with autism were about 20percent more likely to have inherited the thymine variant from their mothers than from their fathers.

"This is a common variant. People inherit it all the time. Our finding that it's associated with autism more often when it's inherited from mothers is intriguing, but needs to replicated," Chakravarti said.

The role of CNTNAP2 in brain-cell development suggested by earlier studies has to do with differentiation, the process by which precursor cells develop into the different kinds of cells of the body. CNTNAP2 carries the genetic code for a protein, part of a family called neurexins, that appears to enable the precursor cells to develop myelinated axons. These are projections through which brain cells send each other electrical impulses essential for normal brain function at especially high speeds.

"CNTNAP2 is an excellent candidate gene for autism," Chakravarti said. "It encodes a protein that's known to mediate interactions between brain cells and that appears to enable a crucial aspect of brain-cell development. A gene variant that altered either of these activities could have significant impact."

For more information about autism, visit the NIMH website here.

More information about autism also is available from the Department of Health and Human Services (DHHS) website at http://www.hhs.gov/autism/.

The National Institute of Mental Health (NIMH) mission is to reduce the burden of mental and behavioral disorders through research on mind, brain, and behavior. More information is available at the NIMH website: http://www.nimh.nih.gov/.

The National Institutes of Health (NIH) - The Nation's Medical Research Agency - includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. It is the primary federal agency for conducting and supporting basic, clinical and translational medical research, and it investigates the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit http://www.nih.gov.

Reference:

Arking DE, Cutler DJ, Brune CW, Teslovich TM, West K, Ikeda M, Rea A, Guy M, Lin S, Cook Jr. EH, Chakravarti A. A common Genetic Variant in the Neurexin-Superfamily Member CNTNAP2 Increases Familial Risk of Autism. American Journal of Human Genetics, online ahead of print, January 10, 2008.

National Institutes of Health

Scientists Identify New Genetic Link To Autism
Taken from MedicalNewsToday.com: Autism News dated 1/11/2008

UCLA scientists have used language onset the age when a child speaks his first word as a tool for identifying a new gene linked to autism. The team also discovered that the gene is most active in brain regions involved with language and thought. Interestingly, evidence for the genetic link came from the DNA of families with autistic boys, not those with autistic girls.

The American Journal of Human Genetics publishes the findings in its Jan. 10 online edition, which also features two studies from research teams at Yale and Johns Hopkins that used different methods that pinpointed the same gene. The coincidence suggests that the gene, called contactin-associated protein-like 2 (CNTNAP2), likely plays a key role in the development of autism.

"This gene not only may predispose children to autism," said Dr. Daniel Geschwind, principal investigator and Gordon and Virginia MacDonald Distinguished Professor of Human Genetics at the David Geffen School of Medicine. "It also may influence the development of brain structures involved in language, providing a tangible link between genes, the brain and behavior."

Children normally utter their first word by age 1. Children with autism, however, can be speech-delayed by many months or even years. Some never speak language at all. Late language onset is a symptom shared by most children with autism.

In an earlier study, the UCLA investigators studied the DNA of 291 families nationwide who had donated blood samples to the Los Angeles-based Autism Genetic Resource Exchange. Each family had at least one autistic child; youngsters who had never spoken were excluded. The findings connected a specific region of Chromosome 7, called 7q35, to autism.

In the current study, the researchers scrutinized every gene in the 7q35 region using DNA samples from 172 families. They identified four promising genes; one of the candidates was CNTNAP2.

To verify their findings, the scientists conducted a second test on a new group of 304 families. The CNTNAP2 gene showed up consistently, confirming its implication in language development.

In a second approach, the researchers examined CNTNAP2's presence in early brain tissue and discovered that the gene was most active in developing brain structures involved in language and thought.

Postdoctoral fellow Brett Abrahams, who led this part of the research, explains the finding's significance by comparing the brain to a house.

"We know that different rooms in houses serve different purposes," said Abrahams. "For example, if an item only appears in the kitchen, it makes sense to assume it's involved in cooking. Or if we find an object only in the bedroom, it's likely connected to sleeping.

"The fact that we found CNTNAP2 concentrated in the brain's structures that are involved in higher cognition gives us strong clues about how its disruption might adversely shape brain development, including speech and language," he said.

In an unexpected third finding, the scientists found that statistical evidence for the gene was strongest in families with autistic boys. Less of an association appeared in families with autistic boys and girls, or in families with autistic girls only.

"Autism strikes boys three times as often as girls," said Maricela Alarcon, first author and UCLA assistant professor in residence of neurology. "This finding may partly explain why."

The 3:1 gender ratio between boys and girls also applies to rates of attention deficit disorders, learning disabilities and language disorders.

"It will be interesting to learn whether CNTNAP2 also plays a role in language development in non-autistic children," observed Alarcon. "Our next step will be to identify more traits, such as seizures or other symptoms, that will help us track down additional genes linked to the disorder."

Coauthors included Jacqueline Duvall, Julia Perederiy, Jamee Bomar, Stanley Nelson and Rita Cantor, all from UCLA. Jennifer Stone of Harvard University, Jonathan Sebat and Michael Wigler of Cold Spring Harbor Laboratory, and Christa Martin and David Ledbetter of Emory University also contributed to the research.

The study was primarily supported with funding from the National Institute of Mental Health, National Institute of Neurological Disease and Stroke, Cure Autism Now Foundation and UCLA Center for Autism Research and Treatment. The authors had no competing financial interests.

University of California, Los Angeles (UCLA), Health Sciences
924 Westwood Blvd., Ste. 350
Los Angeles, CA 90095
United States
http://www.ucla.edu

University Of Washington Launches First Autism Prevention Study
Taken from MedicalNewsToday.com: Autism News dated 1/5/2008

Autism researchers at the University of Washington will take the initial step in attempting to prevent the developmental disorder when they launch an $11.3 million study this week.

The UW's Autism Center has begun looking for 200 Seattle-area infants, 6 months old or younger, who have an older sibling diagnosed with autism. They will be part of the first study designed to prevent autism symptoms from developing in children who are at high risk for the disorder.

While the latest research shows that autism affects as many as one in every 150 newborns in the United States, about one of every 20 infants who have an older sibling with autism will develop the disorder.

"This is the first trial to attempt to intervene and treat infants who are at risk for autism at the earliest time that symptoms are present," said Annette Estes, associate director of the UW Autism Center and research assistant professor of psychiatry and behavior science, who will head clinical assessment component of the new study.

"Other research has shown that the earlier the intervention the better the outcome in treating children with autism. One of our goals is to be able to identify autism as early as possible before obvious symptoms show up so we can intervene while the connections in a child's brain are still plastic.

"At the same time we will be trying to identify early risk factors for autism, something we could do if we had genetic markers. Right now we can't reliably identify autism until about 24 months of age. We will be looking at genetics, neurobiology and a number of early behavioral measures to predict which children will develop autism," she said.

Infants selected to participate in the prevention study will be given a preliminary assessment and then will be divided into two groups. Half of the infants will be monitored by specialists and referred for community treatment. The other infants and their mothers will participate in an intervention at the UW Autism Center that promotes first relationships. Mothers will be trained to engage their infants in eye contact and each mother and child will be videotaped interacting once a week for nine weeks.

All of the children in both groups will be evaluated when they are 12 months old. Those in the UW treatment group then will participate in an early intensive intervention program. At 24 months, the children will be re-evaluated to see if the intervention reduces the symptoms of autism.

The research is funded by the National Institute of Child Health and Development, which recently named the UW Autism Center one of six new Autism Centers of Excellence.

The new grant also will enable UW scientists to continue work unraveling other aspects of autism, including searching for genes related to autism susceptibility, brain imaging, linguistic and social responses to speech in autism, and risk and protective factors associated with autism in children with the disorder and in their family members.

----------------------------
Article adapted by Medical News Today from original press release.
----------------------------

Other lead UW researchers involved in the new projects include Geraldine Dawson, UW professor emeritus of psychology; Gerard Schellenberg, a researcher at the Puget Sound Veterans Affairs Medical Center and UW research professor of medicine; Ellen Wijsman, research professor of medical genetics; Sara Jane Webb and Jeff Munson, research assistant professors of psychiatry and behavior science; Patricia Kuhl, co-director of the Institute for Learning and Brain Sciences and professor of speech and hearing sciences; Dr. Stephen Dager, professor of radiology; Dr. Bryan King, professor of psychiatry and behavioral sciences; and Robert Abbott, professor of educational psychology.

More information about the UW Autism Center is available at http://depts.washington.edu/uwautism/.

Source: Joel Schwarz
University of Washington

Atomic Structure Of Proteins Altered In Autism
Taken from MedicalNewsToday.com: Autism News dated 1/1/2008

A new study by an international group of scientists describes in atomic detail a protein complex that is affected by genetic mutations implicated in autism spectrum disorders. The research team, including scientists from the University of California, San Diego (UCSD) Skaggs School of Pharmacy and Pharmaceutical Sciences (SSPPS), details the neuroligin family of proteins, which are encoded by genes known to be mutated in certain patients with autism. Their study will be published in the December 20 issue of Neuron.

"This goes beyond previous studies to show the individual atoms of these two proteins and how they interact," said Palmer Taylor, Ph.D., Dean of SSPPS and the Sandra & Monroe Trout Professor of Pharmacology. "We have described the mutations found in some people with autism; and we have identified where the altered amino acids are located in the protein, and how they impact the folding and cell adhesion properties of neuroligin and neurexin."

The research builds on earlier work that mapped the molecular structure of neuroligins and their partner proteins, neurexins a protein complex involved in the junctions, or synapses, through which cells of the nervous system signal to one another. The new study, conducted with Pascale Marchot and Yves Bourne and their colleagues in Marseille, France, adds to a clearer understanding of how particular genetic mutations affect formation of this complex and contribute to the developmental abnormalities found in certain individuals with autism.

Normally, individual neuroligins interacting with specific neurexin partners are involved in synaptic adhesions, imparting 'stickiness' that enables them to associate and form synapses that have the capacity for neurotransmission. Incorrect partnering in these diverse protein families results when a mutant neuroligin fails to associate properly at synapses, preventing the normal transmission of brain cells.

The change in synaptic function may account for impairments in development, social interaction and communication displayed in individuals with autism spectrum disorders, according to the researchers.

Contributors include Pascale Marchot and Igor P. Fabrichny, Institut Fédératif de Recherche-Jean Roche, Université de la Mediterranée; Philippe Leone, Gerlind Sulzenbacher and Yves Bourne, Universités Aix-Marseille; and Davide Comoletti and Meghan T. Miller, UCSD Department of Pharmacology, Skaggs School of Pharmacy and Pharmaceutical Sciences.

The research was funded in part by SPINE-2 Complexes Consortium, the Centre National de la Recherche Scientifique and Fondation pour la Recherche Médicale, Cure Autism Now and the National Institutes of Environmental Health Sciences and General Medical Sciences of NIH in the U.S.

University of California, San Diego Health Sciences
200 West Arbor Dr.
San Diego, CA 92103
United States
http://www.ucla.edu

Pitt Autism Center Of Excellence Receives 9.6 Million Dollars NIH Grant
Taken from MedicalNewsToday.com: Autism News dated 12/28/2007

The Center for Excellence in Autism Research (CeFAR) at the University of Pittsburgh has been named an Autism Center of Excellence (ACE) by the National Institutes of Health (NIH). This prestigious and highly competitive award comes with $9.6 million of funding over five years for the autism research program led by Nancy Minshew, M.D., director of CeFAR and professor of psychiatry and neurology at the University of Pittsburgh School of Medicine.

"Our researchers will help identify the earliest signs of autism and their underlying mechanisms, and this will help us to diagnose the disorder sooner and develop treatments earlier," said Dr. Minshew. "Research will help us to understand critical differences in how people with autism solve problems and reason. These studies also will provide the resources to enable us to find the genes contributing to autism and their impact on the individual variability that characterizes this disorder."

The ACE program represents a consolidation of two Pitt programs, the Collaborative Programs of Excellence in Autism and the Studies to Advance Autism Research and Treatment, which includes researchers from Carnegie Mellon University.

Autism is a complex brain disorder that inhibits a person's ability to communicate and develop social relationships, often accompanied by extreme behavioral challenges. Autism often is grouped with similar disorders referred to informally as autism spectrum disorders (ASD) and formally as Pervasive Developmental Disorders. The ACE centers and networks are NIH's next phase in the strategic plan.

Although research over the past 15 years has provided growing insights into ASDs, the underlying causes are unknown. Autism is the fastest-growing developmental disability, now affecting one in every 150 births around the world. Currently, treatments help some but not all, and fall considerably short of a cure.

Two of the ACE research programs will be led by Carnegie Mellon University scientists Marcel Just, Ph.D., and Kevin Pelphrey, Ph.D., who will use computational and neuroimaging techniques as part of the autism study.

The research being conducted within the ACE will focus on the differences in the thought processes of people with autism and in how the brain thinks and develops, including how faces and face emotion are recognized, how language is understood, how decisions are made and how problems solved.

These issues will be studied in 4-month-old infants with an older sibling diagnosed with autism; 16-month-olds to 4-year-olds of all ability levels who are thought to have, or were just diagnosed with, autism or autism spectrum disorder; and 5 to 55-year-olds with autism who are verbal and have IQ scores between 80 and 120.

This Pittsburgh ACE award involves scientists at the University of Pittsburgh School of Medicine (Nancy Minshew, M.D., Ahmad Hariri, Ph.D., and Victoria Grochocinski, Ph.D.), the University of Pittsburgh (Mark Strauss, Ph.D., Susan Campbell, Ph.D., Jana Iverson, Ph.D.), Carnegie Mellon University (Marcel Just, Ph.D., and Kevin Pelphrey, Ph.D.) and Duquesne University (Diane Williams, Ph.D.).

Funding for the University of Pittsburgh Autism Center of Excellence comes from the National Institute of Child Health and Human Development.

University of Pittsburgh Medical Center

Shock Treatment May Continue At Special Education School
Taken from MedicalNewsToday.com: Autism News dated 12/23/2007

A special education school which has been in the news for inappropriate use of electric shock treatment has been allowed to continue using shock treatment for the most dangerous and self-destructive behaviors. In such cases the shock treatment must lead to a diminution in the undesirable actions. The Judge Rotenberg Educational Center (JRC) has to prove that these treatments really work.

The one-year reauthorization contrasts with previous ones which lasted two years each time.

Electric shock treatment at the center must never be used for petty infractions, such as leaving one's seat without getting permission or using offensive language. The school has been ordered to show that it is committed to phasing out this type of aversion therapy. This phasing out must be especially so for students who are on the verge of leaving and about to enter the community.

In August 2007 three adolescents were given several electric shocks after a former resident called pretending to be a supervisor. The residents in question were asleep at the time, the caller told staff to wake them up and give them dozens of shocks with restraints in response to behavior that had allegedly taken place over five ours beforehand. A series of phone calls with instructions were made by the former resident between 2am and 4.45am. Although the JRC claims the victims were evaluated by JRC nursing staff, JRC's doctor, as well as the victim's treating clinical Doctor, and found to be in good health, one victim was further examined at a hospital and was reported to have two areas of first degree burns related to the presence of the GED.

The center pledges not to utilize delayed punishments. It also says it will not punish children who are asleep with electric shocks.

Many are surprised the school was not ordered to end shock treatment straight away.

The Judge Rotenberg Educational Center is a special needs school in Canton, Massachusetts serving both high-functioning students with conduct, behavior, emotional, and/or psychiatric problems and low-functioning students with autistic-like behaviors.

-- DEEC findings on JRC abuse allegations
-- See the full report from the Department of Early Education and Care (PDF 1.84MB)

Written by - Christian Nordqvist
Copyright: Medical News Today

Fragile X Retardation Syndrome Corrected In Mice
Taken from MedicalNewsToday.com: Autism News dated 12/22/2007

Researchers working with mice have significantly alleviated a wide range of abnormalities due to fragile X syndrome by altering only a single gene, countering the effects of the fragile X mutation. They said their achievement offers the potential for treatment of the disorder, the most common form of inherited mental retardation and a leading identified genetic cause of autism. There is currently no treatment or therapy for fragile X syndrome, whose symptoms include mental retardation, epilepsy, and abnormal body growth.

Mark Bear and colleagues reported their findings in an article in the December 20, 2007, issue of the journal Neuron, published by Cell Press.

Fragile X syndrome is known to be caused by loss of the gene for "fragile X mental retardation protein" (FMRP), which is believed to act as a brake on protein synthesis in specific areas of brain circuitry. The authors' idea was that loss of the "brake" would allow another protein that stimulates this process, called metabotropic glutamate receptor 5 (mGluR5), to function unchecked.

In their experiments to test this idea, the researchers studied mice that produce many of the characteristic pathologies of fragile X in humans due to a loss of the FMRP gene. The critical test, though, was when they also created double mutant mice that lacked both the FMRP gene and had a 50% reduction in mGluR5. They chose only to reduce the activity of the metabotropic glutamate receptor gene, rather than eliminate it, in order to reflect what might be achieved using drug treatment for fragile X in humans.

Their tests on the double mutant mice revealed that the mGluR5 gene reduction greatly alleviated many abnormalities produced by loss of FMRP. The double mutant mice showed a rescue of abnormalities in brain structure and function, brain protein synthesis, memory, and body growth.

For example, loss of the FMRP gene produces overgrowth of the connections among neurons called dendritic spines. However, the additional 50% reduction in mGluR5 gene produced mice with completely normal spine density.

The double mutants also showed substantial reduction in epileptic seizures caused by lack of FMRP, found the researchers.

They concluded that "it is remarkable that by reducing mGluR5 gene dosage by 50%, we were able to bring multiple, widely varied fragile X phenotypes significantly closer to normal."

They also concluded that "These findings have major therapeutic implications for fragile X syndrome and autism."

----------------------------
Article adapted by Medical News Today from original press release.
----------------------------

The researchers include Gul Dolen, Howard Hughes Medical Institute, The Picower Institute for Learning and Memory, Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Cambridge, MA, USA, and Department of Neuroscience, Brown Medical School and the Division of Biology and Medicine, Providence, RI, USA; Emily Osterweil, Howard Hughes Medical Institute, The Picower Institute for Learning and Memory, Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Cambridge, MA, USA; B.S. Shankaranarayana Rao, Department of Neurophysiology, National Institute of Mental Health and Neuroscience, Bangalore, India; Gordon B. Smith, Howard Hughes Medical Institute, The Picower Institute for Learning and Memory, Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Cambridge, MA, USA; Benjamin D. Auerbach, Howard Hughes Medical Institute, The Picower Institute for Learning and Memory, Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Cambridge, MA, USA; Sumantra Chattarji, National Center for Biological Sciences, Tata Institute of Fundamental Research, Bangalore, India; and Mark F. Bear, Howard Hughes Medical Institute, The Picower Institute for Learning and Memory, Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Cambridge, MA, USA.

Source: Cathleen Genova
Cell Press

MIT Corrects Inherited Retardation, Autism In Mice- Research points to potential Drug Treatment
Taken from MedicalNewsToday.com: Autism News dated 12/19/2007

Researchers at MIT's Picower Institute for Learning and Memory have corrected key symptoms of mental retardation and autism in mice.

The work, which will be reported in the Dec. 20 issue of Neuron, also indicates that a certain class of drugs could have the same effect. These drugs are not yet approved by the FDA, but will soon be entering into human clinical trials.

Fragile X syndrome (FXS), affecting 100,000 Americans, is the most common inherited cause of mental retardation and autism. The MIT researchers corrected FXS in mice modeling the disease. "These findings have major therapeutic implications for fragile X syndrome and autism," said study lead author Mark F. Bear, director of the Picower Institute and Picower Professor of Neuroscience at MIT.

The findings support the theory that many of FXS's psychiatric and neurological symptoms-learning disabilities, autistic behavior, childhood epilepsy- stem from too much activation of one of the brain's chief network managers-the metabotropic glutamate receptor mGluR5.

"Fragile X is a disorder of excess-excess synaptic connectivity, protein synthesis, memory extinction, body growth, excitability-and remarkably, all these excesses can be reduced by reducing mGluR5," said Bear, a Howard Hughes Medical Institute investigator.

Individuals with FXS have mutations in the X chromosome's FMR1 gene, which encodes the fragile X mental retardation protein, FMRP. The MIT study found that FMRP and mGluR5 are at opposite ends of a kind of molecular seesaw. They keep each other in check, and without FMRP, mGluR5 signals run rampant.

Bear and colleagues study how genes and environment interact to refine connections in the brain. Synapses are the brain's connectors and their modifications are the basis for all learning and memory. There's a growing consensus among researchers that developmental brain disorders such as FXS, autism and schizophrenia should be considered "synapsopathies"- diseases of synaptic development and plasticity (the ability to change in response to experience).

Dendritic spines--little nubs on neurons' branchlike projections-receive many of the synaptic inputs from other neurons. Abnormal spines have long been associated with various forms of human mental retardation. In FXS, spines are more numerous, longer and more spindly than they should be. Thin spines tend to form weak connections.

The research team found that a 50 percent reduction in mGluR5 fixed multiple defects in the fragile X mice. In addition to correcting dendritic spines, reduced mGluR5 improved altered brain development and memory, restored normal body growth, and reduced seizures-many of the symptoms experienced by humans with FXS.

The researchers used genetic engineering to reduce mGluR5, but the same thing could be accomplished by a drug. Although not yet approved by the FDA, mGluR5 blockers are entering into human clinical trials. "Insights gained by this study suggest novel therapeutic approaches, not only for fragile X but also for autism and mental retardation of unknown origin," Bear said.

Earlier this year, MIT Picower Institute researcher Susumu Tonegawa and colleagues reported positive results using a different approach to reversing FXS symptoms. Tonegawa and colleagues identified a key enzyme called p21-activated kinase, or PAK, that affects the number, size and shape of connections between neurons.

In addition to Bear, authors include Brown University graduate student Gul Dolen; Picower Institute postdoctoral fellow Emily Osterweil, B.S. Shankaranarayana Rao of the National Institute of Mental Health and Neuroscience in India; MIT graduate students Gordon B. Smith and Benjamin D. Auerbach; and Sumantra Chattarji of the National Center for Biological Sciences and Tata Institute of Fundamental Research in India.

This work is supported by the National Institute of Mental Health; the National Institute of Child Health and Human Development; the National Fragile X Foundation; FRAXA, a Fragile X research foundation; and the Simons Foundation.

http://www.mit.edu

First-Ever Genetic Animal Model Of Autism
Taken from MedicalNewsToday.com: Autism News dated 12/14/2007

By introducing a gene mutation in mice, investigators have created what they believe to be the first accurate model of autism not associated with a broader neuropsychiatric syndrome, according to research presented at the American College of Neuropsychopharmacology annual meeting. This animal model could help researchers better understand abnormal brain function in autistic humans, which could help them identify and improve treatment strategies. Broader neuropsychiatric conditions include Fragile X, the most common cause of inherited mental impairment, and Rett Syndrome, a childhood neurodevelopmental disorder characterized by normal early development followed by slowed brain and head growth, seizures, and mental retardation.

Autism is a neuropsychiatric disorder characterized by repetitive behaviors and by impairment in social interactions and communication skills. These symptoms can coexist with either enhanced or decreased cognitive abilities and skills.

"Prior to this study we knew next to nothing about the mechanisms of autism in the brain," says study researcher Craig M. Powell, M.D., Ph.D., assistant professor of neurology and psychiatry at the University of Texas Southwestern Medical Center at Dallas. "With this research, we can study changes in the brain that lead to autistic behaviors and symptoms, which may help us understand more about progression and treatment of the disorder."

The research team, led by Thomas Südhof, M.D., professor and chairman of neuroscience at UT Southwestern, replaced the normal mouse neurologin-3 gene with a mutated neuroligin-3 gene associated with autism in humans. By doing so, the team was able to create a gene in the mice that is similar to the human autism disease gene. While the result amounted to a very small change in their genetic makeup, it perfectly mimicked the same small change occurring in some patients with human autism.

Dr. Powell studied the genetically altered mice and found that, when examined in behavioral tests that may reflect key signs of autism, they showed decreased social interaction with other mice; other traits, such as anxiety, coordination and pain sensitivity, were unaffected. These social interaction deficits, Dr. Powell says, are hallmark features of human autism. In addition, the mice showed enhanced spatial learning abilities, which may resemble the enhanced cognitive abilities in autistic savants (people who have a severe developmental or mental handicap as well as extraordinary mental abilities).

"These findings could be especially helpful in identifying novel treatment approaches. We already know that inhibitory chemical synaptic transmission from one neuron to the next is increased in this mouse model. Now we can test drugs that decrease this effect directly in the mice and ask whether this reverses their social interaction deficits," Dr. Powell says. "For now, the mainstay of autism treatment is still behavioral therapy. The earlier we can get patients involved with behavioral interventions, the better off people with autism will be." Dr. Powell adds that the model gives researchers insight into mouse brains which share important parallels with brains of living humans, which can only be studied in limited ways with the use of new brain imaging tools.

----------------------------
Article adapted by Medical News Today from original press release.
----------------------------

ACNP, founded in 1961, is a professional organization of more than 700 leading scientists, including four Nobel Laureates. The mission of ACNP is to further research and education in neuropsychopharmacology and related fields in the following ways: promoting the interaction of a broad range of scientific disciplines of brain and behavior in order to advance the understanding of prevention and treatment of disease of the nervous system including psychiatric, neurological, behavioral and addictive disorders; encouraging scientists to enter research careers in fields related to these disorders and their treatment; and ensuring the dissemination of relevant scientific advances.

Source Sharon Reis
American College of Neuropsychopharmacology

Brain Overgrowth In 1-Year-olds Linked To Development Of Autism
Taken from MedicalNewsToday.com: Autism News dated 12/14/2007

Brain overgrowth in the latter part of an infant's first year may contribute to the onset of autistic characteristics, according to research presented at the American College of Neuropsychopharmacology (ACNP) annual meeting. These findings support concurrent research which has found brain overgrowth in autistic children as young as two years old.

Lead researcher Joseph Piven, M.D., Director of the Neurodevelopmental Disorders Research Center at the University of North Carolina, Chapel Hill and an ACNP member, says that behavioral studies of infants at high risk for autism suggest that the onset of most behavioral symptoms which define the disorder, such as problems with and social interaction, also occur at about age one. "One reason these findings are important is because early post-natal onset raises the possibility that there may be a window for early treatment and prevention that could be identified by future studies," Piven says.

Autism, a pervasive developmental disorder characterized by severe deficits in social interaction and communication, is associated with a restricted range of activities and interests, as well as stereotyped repetitive behaviors such as lining up toys in a certain way or requiring basic routines.

In normal brain development, neuronal connections are eliminated through a process called "pruning." This process refines normal brain connections and increases the efficiency of remaining connections in the brain. Piven says one possibility is that there is less pruning in children with autism and therefore, their brains become larger than in children without autism.

Piven cautions that while the study seems to suggest a link between brain overgrowth and autism, there are many variants of autism among children, so the ways in which autistic children develop and are affected by brain growth can vary greatly.

Piven says he will continue to study brain development in autism through a study which is part of the new Autism Centers of Excellence funded by the National Institutes of Health. This study will examine more than 500 infant siblings of autistic individuals with magnetic resonance imaging at the University of North Carolina, Children's Hospital of Philadelphia, Washington University of St. Louis and the University of Washington in Seattle. Siblings of autistic children will be examined at 6, 12 and 24 months. Some of them are expected to develop autistic behavior during the course of the study.

Previous studies of both brain development on MRI and behavioral development have not been conducted in children this young, at risk for an autism spectrum disorder. This study will provide important new information on brain changes in infancy that are associated with the development of autistic symptoms.

----------------------------
Article adapted by Medical News Today from original press release.
----------------------------

ACNP, founded in 1961, is a professional organization of more than 700 leading scientists, including four Nobel Laureates. The mission of ACNP is to further research and education in neuropsychopharmacology and related fields in the following ways: promoting the interaction of a broad range of scientific disciplines of brain and behavior in order to advance the understanding of prevention and treatment of disease of the nervous system including psychiatric, neurological, behavioral and addictive disorders; encouraging scientists to enter research careers in fields related to these disorders and their treatment; and ensuring the dissemination of relevant scientific advances.

Source: Sharon Reis
American College of Neuropsychopharmacology

Fever May Briefly Alleviate Autism Symptoms
Taken from ScienceDaily.com: Autism News dated 12/10/2007

ScienceDaily (Dec. 10, 2007) — The behavior of children with autism may improve during a fever, according to a first-of-kind study.

Researchers hypothesize that fever may restore nerve cell communications in regions of the autistic brain. The restoration may help children improve socialization skills during a fever.

The study was based on 30 autistic children between ages 2 and 18 who were observed during and after a fever of at least 100.4 degrees Fahrenheit. More than 80 percent of the children showed some improvement in behavior during a fever and 30 percent showed significant improvement, researchers said. Behavior changes included longer concentration span, increased amount of talking and improved eye contact.

The study was written by Craig J. Newschaffer, Ph.D., professor and chair of the Department of Epidemiology and Biostatistics at Drexel University, and Laura K. Curran, Ph.D., an epidemiology doctoral degree graduate who Newschaffer advised before he joined Drexel from Johns Hopkins University.

“Any leads that suggest new biologic mechanisms that could be acted on through treatment are welcomed,” Newschaffer said.

Study data suggest that behavior changes may not solely be the byproduct of sickness and, consequently, could be the byproduct of a biologic response to fever. More research, however, is needed to prove fever-specific effects, researchers say.

Autism can limit social interactions and disable verbal and nonverbal communication. About 1.5 million Americans have some form of autism, according to the Autism Society of America. The cause of autism is unknown.

The study, “Behaviors Associated With Fever in Children With Autism Spectrum Disorders,” waS published Nov. 30 in Pediatrics.

The study was co-written by Stephen O. Crawford, M.H.S., predoctoral fellow at Johns Hopkins University; Michael V. Johnston, M.D., research scientist in the Kennedy Krieger Institute; Li-Ching Lee, Ph.D., assistant scientist at Johns Hopkins University; and Dr. Andrew W. Zimmerman, M.D., pediatric neurologist and research scientist at the Kennedy Krieger Institute.

Adapted from materials provided by Drexel University.

Missing Protein May Be Key To Autism
Taken from ScienceDaily.com- Autism News dated: 12/07/2007

ScienceDaily (Dec. 7, 2007) — A missing brain protein may be one of the culprits behind autism and other brain disorders, researchers at MIT's Picower Institute for Learning and Memory report in the Dec. 6 issue of Neuron.

The protein helps synapses develop. Synapses--through which neurons communicate with one other-underlie our ability to learn and remember. Now Li-Huei Tsai, Picower Professor of Neuroscience at MIT, has uncovered an enzyme that is key to that protein's activity.

Synapses are complex structures consisting of ion channels, receptors and intricate protein complexes that all work together to send and receive signals. Improperly formed synapses could lead to mental retardation, and mutations in genes encoding certain synaptic proteins are associated with autism.

Tsai studies a kinase (kinases are enzymes that change proteins) called Cdk5. While Cdk5's best-known role is to help new neurons form and migrate to their correct positions during brain development, "emerging evidence supports an important role for Cdk5 at the synapse," she said.

To gain a better understanding of how Cdk5 promotes synapse formation, Tsai's lab looked into how Cdk5 interacts with synapse-inducing proteins-in particular, a protein called CASK. CASK--a key scaffolding protein-is one of the first proteins on the scene of a developing synapse.

Scaffolding proteins such as CASK are like site managers, supporting protein-to-protein interactions to ensure that the resulting architecture is sound. Mutations in the genes responsible for Cdk5 and CASK have been found in mental retardation patients.

"We found that Cdk5 is critical for recruiting CASK to do its job for developing synapses," Tsai said. "Without Cdk5, CASK was not in the right place at the right time, and failed to interact with essential presynaptic components. This, in turn, led to problems with calcium influx." The flow of calcium in and out of neurons affects processes central to nervous system development and plasticity--its ability to change in response to experience.

Gene mutations and/or deletions in synaptic cell surface proteins and molecules called neurexins and neuroligins have been associated with autism. The problem with CASK recruitment investigated by the Tsai laboratory creates the same result as these genetic changes.

The Picower study also provides the first molecular explanation of how Cdk5, which also may go awry in neurodegenerative diseases such as Alzheimer's, promotes synapse development.

"There are still a lot of unknowns," said Tsai, who is also a Howard Hughes Medical Institute investigator. "Causes for psychiatric disorders are still very unclear, but accumulating evidence strongly suggests that alterations in the synaptogenesis program can lead to these serious diseases."

In addition to Tsai and Picower researcher Benjamin A. Samuels, co-authors are associated with Harvard Medical School; Johns Hopkins University School of Medicine; McLean Hospital in Belmont, Mass.; and Academia Sinica in Taiwan.

This work is supported by the National Institute of Neurological Disorders and Stroke (NINDS).

Adapted from materials provided by Massachusetts Institute of Technology.

Study Finds Fever May Lead To Improved Behavior In Children With Autism Spectrum Disorders
Taken from MedicalNewsToday.com: Autism News dated 12/04/2007

Over the past few decades, parents and clinicians have observed that the behaviors of children with autism spectrum disorders (ASD) tend to improve, sometimes rather dramatically, during a fever. Longer concentration spans, increased language production, improved eye contact and better overall relations with adults and peers have all been reported. In a study published in the journal Pediatrics, researchers from the Kennedy Krieger Institute in Baltimore, Maryland confirmed, for the first time, parent and clinician reports that the behavior of children with ASD improves with fever. The study evaluated children with ASD during and after an episode of fever and found that fewer autistic-like behaviors were recorded for children with fever compared to controls. Understanding how fever affects the behaviors of children with ASD may provide insight into the causes of the disorder and potential treatment opportunities.

In typically developing children, signals are constantly being sent through pathways that connect the different regions of the brain and allow them to communicate with one another. Research has shown that these connections between brain regions are not made in children with autism, which limits their ability to communicate and socialize. But, the rapid behavioral changes observed with the onset of fever in children with ASD suggest that the different regions of the brain are in fact capable of connecting and communicating with one another, and that something about the fever state triggers or speeds up the signaling between brain regions. Understanding this "fever effect," including why and how connections are made between brain regions during a febrile (fever) state and not in an afebrile (without fever) state in children with ASD may provide valuable insight into the neurological basis of the disorder.

"Since autism spectrum disorders are behaviorally defined and diagnosed, studying changes in behavior resulting from a wide range of physiological changes is critical to increasing our understanding of this complex group of disorders," said Andrew Zimmerman, Director of Medical Research at the Center for Autism and Related Disorders at the Kennedy Krieger Institute. "The results of this study are important because they show us that the autistic brain is plastic, or capable of altering current connections and forming new ones in response to different experiences or conditions."

Researchers evaluated 30 children with ASD, ages two to 18 years, during and after an episode of fever (fever was defined as 100.4 degrees F/38.0 degrees C or greater). Parents were asked to observe their child's actions and complete a standardized behavior questionnaire at three different points: during fever; when the fever subsided and the child was asymptomatic; and when the child was fever-free for seven days. These data were compared to data collected from parents of 30 afebrile children with ASD who made up the control group. Children in the control group were matched to children in the fever group in terms of age, sex and language skills. Results revealed fewer autistic-like behaviors for children with fever compared to controls, with more than 80 percent of fever subjects showing some behavioral improvements and approximately 30 percent exhibiting dramatic improvements.

"Pilot research studies such as this provide clues about the underlying metabolic changes in the brain that may prove to be targets for novel autism therapies," said Dr. Gary Goldstein, President and CEO of Kennedy Krieger Institute. "These and other similar findings are shaping the future direction of autism research."

Further research involving a larger participant pool is needed to better understand fever-specific effects in autism. In the future, Dr. Zimmerman would like to collaborate with other research institutions to study the underlying biologic mechanisms of fever-specific effects in autism by conducting blood tests during and after fever and analyzing immune measurements and hormonal changes in the blood. This research study was the work of senior author Dr. Andrew Zimmerman of the Kennedy Krieger Institute and the doctoral thesis of Laura Curran at Johns Hopkins Bloomberg School of Public Health and the Kennedy Krieger Institute. The study was funded by Cure Autism Now, which merged with the organization Autism Speaks in 2007.

Pediatrics is an official peer-reviewed journal of the American Academy of Pediatrics, publishing original research, clinical observations, and special feature articles in the field of pediatrics. The journal has been continuously published by the American Academy of Pediatrics since January 1948.

About Autism

Autism spectrum disorders (ASD) is the nation's fastest growing developmental disorder, with current incidence rates estimated at 1 in 150 children. This year more children will be diagnosed with autism than AIDS, diabetes and cancer combined, yet profound gaps remain in our understanding of both the causes and cures of the disorder. Continued research and education about developmental disruptions in individuals with ASD is crucial, as early detection and intervention can lead to improved outcomes in individuals with ASD.

About the Kennedy Krieger Institute

Internationally recognized for improving the lives of children and adolescents with disorders and injuries of the brain and spinal cord, the Kennedy Krieger Institute in Baltimore, MD serves more than 13,000 individuals each year through inpatient and outpatient clinics, home and community services and school-based programs. Kennedy Krieger provides a wide range of services for children with developmental concerns mild to severe, and is home to a team of investigators who are contributing to the understanding of how disorders develop while pioneering new interventions and earlier diagnosis. For more information on Kennedy Krieger Institute, visit http://www.kennedykrieger.org.

Kennedy Krieger Institute
http://www.kennedykrieger.org

Autistic Children May Have Abnormal Functioning Of Mirror Neuron System
Taken from ScienceDaily.com: Autism News dated 11/29/2007

ScienceDaily (Nov. 29, 2007) — Using a novel imaging technique to study autistic children, researchers have found increased gray matter in the brain areas that govern social processing and learning by observation.

"Our findings suggest that the inability of autistic children to relate to people and life situations in an ordinary way may be the result of an abnormally functioning mirror neuron system," said lead author Manzar Ashtari, Ph.D., from the Children's Hospital of Philadelphia in Pennsylvania.

Mirror neurons are brain cells that are active both when an individual is performing an action and experiencing an emotion or sensation, and when that individual witnesses the same actions, emotions and sensations in others. First observed in the macaque monkey, researchers have found evidence of a similar system in humans that facilitates such functions as learning by seeing as well as doing, along with empathizing and understanding the intentions of others. Dr. Ashtari's study found the autistic children had increased gray matter in brain regions of the parietal lobes implicated in the mirror neuron system.

The study included 13 male patients diagnosed with high-functioning autism or Asperger syndrome and an IQ greater than 70 and 12 healthy control adolescents. Average age of the participants was about 11 years. Each of the patients underwent diffusion tensor imaging (DTI), a technique that tracks the movement of water molecules in the brain.

DTI is traditionally used to study the brain's white matter, as well as the brain fibers. However, Dr. Ashtari's team applied it to the assessment of gray matter by employing apparent diffusion coefficient based morphometry (ABM), a new method that highlights brain regions with potential gray matter volume changes. By adding ABM to DTI, the researchers can detect subtle regional or localized changes in the gray matter.

In addition to the gray matter abnormalities linked to the mirror neuron system, the results of this study revealed that the amount of gray matter in the left parietal area correlated with higher IQs in the control group, but not in the autistic children.

"In the normal brain, larger amounts of gray matter are associated with higher IQs," Dr. Ashtari said. "But in the autistic brain, increased gray matter does not correspond to IQ, because this gray matter is not functioning properly."

The autistic children also evidenced a significant decrease of gray matter in the right amygdala region that correlated with severity of social impairment. Children with lower gray matter volumes in this area of the brain had lower scores on reciprocity and social interaction measures.

"Impairments in these areas are the hallmark of autism spectrum disorders, and this finding may lead to greater understanding of the neurobiological underpinnings of the core features of autism," said study co-author Joel Bregman, M.D., medical director of the Fay J. Lindner Center for Autism.

Autism is the fastest growing developmental disability in the United States and typically appears during the first three years of life. Children with autism are hindered in the areas of social interaction and communication skills. According to the Centers for Disease Control and Prevention, as many as 1.5 million Americans have autism.

Results of the study conducted at the Fay J. Lindner Center for Autism, North Shore-Long Island Jewish Health System in Bethpage, N.Y., were presented November 28 at the annual meeting of the Radiological Society of North America.

Co-authors are S. Nichols, Ph.D., C. McIlree, M.S., L. Spritzer, B.S., A. Adesman, M.D., and B. Ardekani, Ph.D.

This study was supported by The Feinstein Institute for Medical Research, North Shore-Long Island Jewish Health System and the National Center for Research Resources/National Institutes of Health.

Adapted from materials provided by Radiological Society of North America.

2007 Michael Young Prize Winner Focuses On Autism Research
Taken from MedicalNewsToday.com - Autism News dated 11/29/2007

The differing rate of development of children with Autism is the focus of the research of one of the 2007 Michael Young Prize winners, awarded by the Economic and Social Research Council (ESRC) and the Young Foundation.

Previously most research in this area has focussed on the causes of autism rather than understanding it as a developmental disorder. By following a group of autistic children over a period of three years Dr Elizabeth Pellicano, from Bristol University, found that there was no uniform pattern of development.

Dr Pellicano commented "I am delighted to receive this prize. Not only does it recognise my work with children with autism, but it also recognises the significance of charting the development of autism - the changes that take place across time, and the types of factors that play a role in shaping such changes.

"My research findings bring hope to parents, teachers, and professionals working with young people with autism. They show that children with autism can make positive gains over a relatively short time period. In particular, children's improvements in social interactions were especially impressive. They were chattier than previously, some were beginning to form friendships, and most showed fewer unusual behaviours and interests. We need to identify why these improvements took places, and how we can foster them further.

"Teasing apart the types of factors that shape changes across time - and particularly those that promote children's well-being - demands a research programme that follows children and families across time. This longitudinal research is of critical importance to the understanding of autism as a developmental condition."

Conceived in honour of the founder of the ESRC, the late Lord Michael Young, the prize aims to reward and encourage early career researchers whose work offers genuine new insights and is likely to have an impact beyond academia. Elizabeth wins £3,000 to help her communicate her research to users outside of academia.

Dr Pellicano said: "Winning the prize will enable me to hold a series of events inviting people with autism, parents and carers of children with autism, and policymakers to consider the changes and continuities that take place as children make the transition to adolescence and adulthood."

Benet Middleton, National Autistic Society Director of Communications, said: "There is an urgent need for more research into autism to help us better understand and respond to this very complex, lifelong and disabling condition. We are really pleased that Dr Pellicano's work has been recognised and awarded accordingly. We look forward to seeing further work and events from Dr Pellicano and wish her every success with future research".

----------------------------
Article adapted by Medical News Today from original press release.
----------------------------

1. Click here to access a podcast interview with Elizabeth Pellicano talking about her research.

2. The Economic and Social Research Council (ESRC) is the UK's largest funding agency for research and postgraduate training relating to social and economic issues. It supports independent, high quality research relevant to business, the public sector and voluntary organisations. The ESRC's planned total expenditure in 2007/08 is £181 million. At any one time the ESRC supports over 4,000 researchers and postgraduate students in academic institutions and research policy institutes. More at http://www.esrcsocietytoday.ac.uk/

3. ESRC Society Today offers free access to a broad range of social science research and presents it in a way that makes it easy to navigate and saves users valuable time. As well as bringing together all ESRC-funded research (formerly accessible via the Regard website) and key online resources such as the Social Science Information Gateway and the UK Data Archive, non-ESRC resources are included, for example the Office for National Statistics. The portal provides access to early findings and research summaries, as well as full texts and original datasets through integrated search facilities. More at http://www.esrcsocietytoday.ac.uk/

Source: Alexandra Saxon
Economic & Social Research Council

Novel Imaging Technique Shows Gray Matter Increase In Brains Of Autistic Children
Taken from MedicalNewsToday.com - Autism News dated 11/29/2007

Using a novel imaging technique to study autistic children, researchers have found increased gray matter in the brain areas that govern social processing and learning by observation. Results of the study conducted at the Fay J. Lindner Center for Autism, North Shore-Long Island Jewish Health System in Bethpage, N.Y., were presented at the annual meeting of the Radiological Society of North America (RSNA).

"Our findings suggest that the inability of autistic children to relate to people and life situations in an ordinary way may be the result of an abnormally functioning mirror neuron system," said lead author Manzar Ashtari, Ph.D., from the Children's Hospital of Philadelphia in Pennsylvania.

Mirror neurons are brain cells that are active both when an individual is performing an action and experiencing an emotion or sensation, and when that individual witnesses the same actions, emotions and sensations in others. First observed in the macaque monkey, researchers have found evidence of a similar system in humans that facilitates such functions as learning by seeing as well as doing, along with empathizing and understanding the intentions of others. Dr. Ashtari's study found the autistic children had increased gray matter in brain regions of the parietal lobes implicated in the mirror neuron system.

The study included 13 male patients diagnosed with high-functioning autism or Asperger syndrome and an IQ greater than 70 and 12 healthy control adolescents. Average age of the participants was about 11 years. Each of the patients underwent diffusion tensor imaging (DTI), a technique that tracks the movement of water molecules in the brain.

DTI is traditionally used to study the brain's white matter, as well as the brain fibers. However, Dr. Ashtari's team applied it to the assessment of gray matter by employing apparent diffusion coefficient based morphometry (ABM), a new method that highlights brain regions with potential gray matter volume changes. By adding ABM to DTI, the researchers can detect subtle regional or localized changes in the gray matter.

In addition to the gray matter abnormalities linked to the mirror neuron system, the results of this study revealed that the amount of gray matter in the left parietal area correlated with higher IQs in the control group, but not in the autistic children.

"In the normal brain, larger amounts of gray matter are associated with higher IQs," Dr. Ashtari said. "But in the autistic brain, increased gray matter does not correspond to IQ, because this gray matter is not functioning properly."

The autistic children also evidenced a significant decrease of gray matter in the right amygdala region that correlated with severity of social impairment. Children with lower gray matter volumes in this area of the brain had lower scores on reciprocity and social interaction measures.

"Impairments in these areas are the hallmark of autism spectrum disorders, and this finding may lead to greater understanding of the neurobiological underpinnings of the core features of autism," said study co-author Joel Bregman, M.D., medical director of the Fay J. Lindner Center for Autism.

Autism is the fastest growing developmental disability in the United States and typically appears during the first three years of life. Children with autism are hindered in the areas of social interaction and communication skills. According to the Centers for Disease Control and Prevention, as many as 1.5 million Americans have autism.

Co-authors are S. Nichols, Ph.D., C. McIlree, M.S., L. Spritzer, B.S., A. Adesman, M.D., and B. Ardekani, Ph.D.

AT A GLANCE

-- Children with autism have increased gray matter in key brain regions linked to the mirror neuron system.

-- Mirror neurons are brain cells associated with learning by seeing, empathizing and experiencing an emotion or sensation.

-- The amount of gray matter in the left parietal area of the brain correlated with IQ in the control children but not in autistic children.

-- Decreased gray matter in the amygdala region of the brain correlated with severity of social impairment.

This study was supported by The Feinstein Institute for Medical Research, North Shore-Long Island Jewish Health System and the National Center for Research Resources/National Institutes of Health.

RSNA is an association of more than 41,000 radiologists, radiation oncologists, medical physicists and related scientists committed to excellence in patient care through education and research. The Society is based in Oak Brook, Ill. (RSNA.org)

Radiological Society of North America
http://www.rsna.org

Rock Band Daughtry Hope To Make A Difference For Kids With Autism
Taken from MedicalNewsToday.com - Autism News dated 11/22/2007

Parents Of Autistic Children (POAC) a non profit organization from Hazlet, New Jersey who provides scientifically based training to parents, teachers, emergency care providers and loved ones of autistic children throughout the area, is happy to announce that a portion of the proceeds from the Daughtry Concert at the Nokia Theater in Times Square New York City on Tuesday December 4th and Wednesday December 5th are to benefit POAC.

Earlier in the year, triple-platinum recording group Daughtry and their management team at 19 Entertainment were contacted by Kevin Martin, lead singer of the multi-platinum rock band Candlebox to perform together in a concert to benefit Martin's favorite charity, POAC. Immediately Daughtry replied with a resounding yes. Since that time the two groups were having a tricky time finding a schedule that would work out where they both could play together.

"I was really stoked when Kevin gave me the call to play with him for his autism charity, since then we have been trying to find the time with both of our busy schedules," said band leader Chris Daughtry. "My band and I are thrilled to do whatever we can to help all of the kids suffering with autism and it is especially exciting to be able to do it during this Holiday Season," Chris added.

19 Entertainment has agreed to donate $2.50 from each ticket sold during the two day, sold out event at the Nokia Theater in New York's popular Times Square. The potential monies to be raised during the highly anticipated event could be in excess of $10,000.00. "My wife and family are such big fans of Daughtry and it touches my heart that they would be doing this for POAC," said Gary Weitzen, President of POAC. "Not only am I excited to receive the money that will be spent wisely to help so many families with a loved one with autism, but I also am thrilled to see the show! I am so thankful to Kevin Martin and Daughtry for making this possible," Mr. Weitzen continued.

Daughtry was seen on ABC Television last Sunday during the American Music Awards where the group performed an acoustic version of their hit song 'Home'. The band was able to walk away with a AMA hat trick last night as they walked away with three awards, Favorite Rock/Pop Album, Favorite Adult Contemporary Artist, and Favorite Breakthrough Artist. The group has also been nominated for two People's Choice Awards to be aired on CBS on January 8, 2008; nominations include: Favorite Group and Favorite Rock Song ("Home").

For Daughtry fans that live abroad or may not be able to make the show and still wish to support the band and its labors in helping this fine and deserving Organization, donations can be made at http://www.rockforadifference.org, a website that was created for the Organization in their efforts to reach out to and educate a younger market about the effects of autism, to promote a series of future benefit concerts and to hold on line auctions of autographed memorabilia by popular musicians, artists and athletes to help continue the POAC mission. If you love someone with autism and would like to attend one of the many POAC Sponsored free training workshops, wish to find out more information about the Organization, or have some fund raising ideas of your own, please visit them on-line at http://www.poac.net.

Clinton's Autism Plan
Taken from FirstRead.msnbc.msn.com/archive/2007/11/25/479647.aspx-
Dated 11/25/2007

From NBC/NJ's Athena Jones
CLINTON WEEKEND CAMPAIGN NOTEBOOK
SIOUX CITY, IA -- Hillary Clinton used the first stop on a two-day, post-Thanksgiving swing through Iowa on Saturday to lay out a $700 million a year plan to help people affected by autism. The money would be spent for research and provide support for families and teachers dealing with the disorder, as well as for autistic children and adults.

The senator said autism diagnoses had risen dramatically in the last 15 years to some 25,000 each year, affecting 1.5 million Americans and their families and costing the country at least $35 billion a annually. She talked about spending time with a child with autism while living in Little Rock and her work on behalf of children with disabilities over the years.

Clinton said not enough was known about what she called one of the most urgent and least understood challenges facing the nation and not enough services were available to deal with it.

“I think it’s time we had a government and a president who recognized the seriousness of autism and addressed it head on,” Clinton told the crowd at a local Boy’s Club. She said she was at the club because of the work the organization does to provide services for children with autism.

Clinton's plan would double investments in the National Institutes of Health’s efforts to identify the causes of the disorder, including possible environmental causes. Fully funding the “Combating Autism Act,” a Clinton co-sponsored bill that became law in 2006, would cost $200 million a year and would be covered by the senator’s initiative to increase the NIH budget by doubling it over 10 years. The other $500 million would come from savings from improving government efficiency, said spokesman Jay Carson.

"The federal government wastes billions of dollars each year in making improper payments based on procurement and contractual arrangements between agencies and service providers,” Carson said. “Implementing the GAO's recommendations for streamlining the payment process could reduce improper payments by at least $3 billion per year. Hillary will allocate a portion of this savings to fund her autism services program.”

One audience member, her head shaved and painted red, white and blue with “Hillary” written along the side, thanked the senator for talking about the disorder. The woman said she had lost her hair due to cancer and that she was an adoptive parent of two autistic children.

During the question-and-answer session, a man asked Clinton whether her administration would be willing to tackle the issue of providing universal health care for all Americans, regardless of their immigration status.

"We have to have a safety net, but I have not included people who are undocumented in my health care plan,” Clinton said. “I don't think we can do that until we deal with comprehensive immigration reform. Just on a matter of humanity and morality, we want to be able to take care of people on an emergency basis, so there are certain services that we should provide through a safety net system.”

The senator was late to the event due to travel delays, according to campaign co-chair and former Iowa Gov. Tom Vilsack. He spoke to the crowd for about 10 minutes about the responsibility Iowans have in choosing the nominee. He also said Iowa voters had an opportunity to make history on Jan. 3 and stressed that Clinton had been battle-tested when it came to withstanding Republican attacks.

The former governor asked the men in the audience to think about a young girl or woman in their lives as the senator spoke.

"Think about being able to go to her on the day after the election and being able to say to her that for the first time in American history, every opportunity, every opportunity, not just the union president or the college president or the doctor or the lawyer or the teacher or the nurse -- every opportunity is now available to both men and women in this country. It is what America is about," Vilsack said, calling this election an "enormous chance."

Children With Asperger Syndrome More Likely To Have Sleep Problems
Taken from ScienceDaily.com: Autism News dated 11/21/2007

ScienceDaily (Nov. 21, 2007) — The first known attempt to evaluate the sleep patterns of children with Asperper Syndrome (AS), taking into account sleep architecture and the cyclic alternating pattern (CAP), finds that children with AS have a high prevalence of some sleep disorders and mainly problems related to initiating sleep and sleep restlessness together with morning problems and daytime sleepiness, according to a new study.

The study, authored by Oliviero Bruni, MD, of the Center for Pediatric Sleep Disorders at University La Sapienza in Rome, Italy, focused on eight children with AS, 10 children with autism and 12 healthy control children. The parents of the children with AS filled out the following materials:

1. Sleep questionnaire.
2. Pediatric Daytime Sleepiness Scale, which evaluates the relationship between daytime sleepiness and school-related outcomes.
3. Autism Diagnostic Observation Schedule, a semi-structured, standardized assessment of communication, social interaction and play or imaginative use of materials for individuals who have been referred because of possible autism spectrum disorders.
4. Child Behavior Checklist, a questionnaire used to examine daytime behavior in children.

In addition, the children took the Wechsler Intelligence Scale for Children, which measures verbal IQ, performance IQ and a full-scale IQ, and also underwent an overnight polysomnogram, or sleep study.

Several sleep parameters, such as time in bed, sleep period time, number of awakenings per hour, and sleep efficiency, were evaluated. CAP, a periodic EEG activity of non-REM sleep characterized by repeated spontaneous sequences of short-lived events (phase A) with the return to background activity identifying the interval that separates the repetitive elements (phase B), was also scored.

According to the results, 50 percent of the children with AS were reluctant to go to bed, while 75 percent felt a need for light or a television in the bedroom, 87 percent had difficulty getting to sleep at night and 75 percent fell asleep sweating. In addition, 50 percent felt unrefreshed when waking up in the morning, 87 percent had difficulty waking up in the morning and 87 percent felt sleepy during the day.

With respect to the CAP, in comparison to healthy controls, subjects with AS showed a lower total CAP rate in the first two sleep stages, but not in slow wave sleep. In addition, they showed an increased percentage of synchronized EEG patterns and a decreased percentage of desynchronized EEG patterns. Further, the duration of the A and B phases, and consequently the entire CAP cycle, was longer. Compared to the children with autism, AS subjects showed an increased CAP rate in slow wave sleep and a decrease in the second sleep stage. The duration of the A phases was longer, as well as the CAP cycle duration.

"This study showed peculiar CAP modifications in children with AS and represented an attempt to correlate the quantification of sleep EEG oscillations with the degree of mental ability or disability," said Dr. Bruni.

AS is one of several autism spectrum disorders (ASDs) characterized by difficulties in social interaction and by restricted and stereotyped interests and activities. AS is distinguished from the other ASDs in having no general delay in language or cognitive development. Although it is not mentioned in standard diagnostic criteria, there are frequent reports of motor clumsiness and atypical use of language.

It is recommended that children in pre-school sleep between 11-13 hours a night, school-aged children between 10-11 hours of sleep a night, and adolescents about nine hours a night.

The American Academy of Sleep Medicine (AASM) offers some tips to help your child sleep better:

• Follow a consistent bedtime routine. Set aside 10 to 30 minutes to get your child ready to go to sleep each night.
• Establish a relaxing setting at bedtime.
• Interact with your child at bedtime. Don't let the TV, computer or video games take your place.
• Keep your children from TV programs, movies, and video games that are not right for their age.
• Do not let your child fall asleep while being held, rocked, fed a bottle, or while nursing.
• At bedtime, do not allow your child to have foods or drinks that contain caffeine. This includes chocolate and sodas. Try not to give him or her any medicine that has a stimulant at bedtime. This includes cough medicines and decongestants.

Children are encouraged to inform their parents of any sleep problems they may have. Parents who suspect that their child might be suffering from a sleep disorder are encouraged to consult with their child's pediatrician or a sleep specialist.

The journal article, entitled, "Sleep Architecture and NREM Alterations in Children and Adolescents with Asperger Syndrome", was published in Sleep November 1, 2007.

Adapted from materials provided by American Academy of Sleep Medicine.

The Autism Treatment Center Of America Announces 2nd Edition Of The Son-Rise Program Developmental Model For Curing Autism
Taken from MedicalNewsToday.com - Autism News dated 11/19/2007

The Autism Treatment Center of America(TM) (ATCA) continues to offer groundbreaking advances in curing autism. The ATCA has announced the 2nd Edition of The Son-Rise Program® Developmental Model.

The Son-Rise Program for autism treatment and education is the only program that:

-- Was created by parents for parents
-- Helps parents cure their children in some cases and bring about significant improvement in almost all cases
-- Has worked for 25,000 families from 75 countries with a radical departure from traditional behavior modification for Autism
-- Takes a situation that can be divisive and uses it to unite families

The Son-Rise Program Developmental Model is based on the understanding that the ability to socialize, create and sustain substantial interactive relationships is the fundamental challenge for people on the autistic spectrum. It is important to focus on all areas of a child's development, but the first and foremost skill must be social development, the ability to socially interact. By focusing on this area, parents and caregivers can create the greatest possibility for change.

The 2nd Edition of The Son-Rise Developmental Model offers more detail about the specific social skills required to develop a Son-Rise Program curriculum. It clearly explains the stages of social development, including easily understandable Social Developmental Charts, and how to create a curriculum that focuses on the skills most appropriate for a child's next step in social development.

Raun K. Kaufman, CEO of the ATCA and himself fully cured through The Son-Rise Program, said, "The Son-Rise Program Developmental Model will make a profound difference in your work with your child, or the child in your life."

About The Autism Treatment Center of America

The Autism Treatment Center of America is the worldwide teaching center for The Son-Rise Program, a powerful, effective and totally unique treatment for children and adults challenged by autism spectrum disorders, Pervasive Developmental Disorder (PDD), Asberger's Syndrome, and other developmental difficulties.

http://www.autismtreatmentcenter.org

Family Enrollment Begins In Largest Study To Investigate Risk Factors Of Autism
Taken from MedicalNewsToday.com - Autism News dated 11/15/2007

Researchers from Kaiser Permanente and the California Department of Public Health, as well as from five other sites nationwide, are now enrolling families in the largest study to date investigating the genetic and environmental factors that may cause autism and other developmental disabilities.

The five-year research study, called the Study to Explore Early Development, will involve 2,700 children and their parents from six areas around the nation, including Santa Clara and Alameda counties. The study is open to both Kaiser Permanente members and non-members with children who were born from September 2003 to August 2005 in Santa Clara and Alameda counties. Children with autism and other neuro-developmental impairments (developmental delays), as well as children with typical development, will be studied and are being recruited.

"We hope this study will help us learn more about the factors that may lead to autism and other developmental disabilities, and how genes and the environment may affect child development," said Lisa A. Croen, PhD, the study's local principal investigator and an epidemiologist with Kaiser Permanente's Division of Research in Oakland, Calif. "The results may also contribute to better services and treatments for affected children and to prevention strategies."

For reasons not fully understood, autism is on the rise, affecting on average about one in 150 children born in the United States, according to the U.S. Centers for Disease Control and Prevention, which also is involved in this study. The chronic, lifelong condition affects the normal functioning of the brain, impacting development of social and communication skills. The American Academy of Pediatrics recently released guidelines recommending all children be screened for autism between the ages of 18 and 24 months, even if parents haven't expressed any particular concerns.

"The new national recommendation for regular screening of children for autism has raised the community awareness of the importance of early diagnosis of autism in order to help children and families," said Dr. Marc Lerner, MD, FAAP, the American Academy of Pediatrics' Chair of State Government Affairs for California. "What is now needed is research like the SEED study to understand the reasons behind the dramatic growth in the diagnosis of autism, which will help us to address prevention and treatment."

Factors that will be studied include family medical history; genetics; and socio-demographic, lifestyle and environmental factors. Study information will be obtained by conducting interviews and exams, reviewing medical records, collecting cheek swabs, and blood and hair sampling, according to Pilar Bernal, MD, medical director of Kaiser Permanente's Regional Program for Autism Spectrum Disorders. Kaiser Permanente maintains two autism centers -- one in San Jose, Calif., and another in Rancho Cordova, Calif., a suburb of Sacramento.

----------------------------
Article adapted by Medical News Today from original press release.
----------------------------

Kaiser Permanente's Northern California Regional Program for Autism Spectrum Disorders provides evidence-based care and specializes in early detection and treatment. Planning for the Northern California regional program began in 2001 and clinicians began opening centers of excellence in 2004. The program uses a multidisciplinary approach that includes pediatric care; evaluation, diagnosis and treatment; child psychiatry and child psychology; neurology; genetics; gastroenterology; nutrition, speech and language; and occupational therapy. The Northern California Regional Program provides education and support for parents through interventions that are evidence based; educates providers who work with children throughout Santa Clara County; and coordinates services for children and their families to ensure that services are family-centered and culturally competent.

Funded by the U.S. Centers for Disease Control and Prevention, other SEED study sites are the Colorado Department of Public Health and Environment; Johns Hopkins University in Maryland; the University of North Carolina at Chapel Hill; and the University of Pennsylvania. The CDC also is participating in the study, and will include children and their parents from the metropolitan Atlanta area.

About Kaiser Permanente Division of Research

The Kaiser Permanente Division of Research conducts, publishes, and disseminates epidemiologic and health services research to improve the health and medical care of Kaiser Permanente members and the society at large. It seeks to understand the determinants of illness and well being and to improve the quality and cost-effectiveness of health care. Currently, the center's 400-plus staff is working on more than 250 epidemiological and health services research projects.

About Kaiser Permanente

Kaiser Permanente is America's leading integrated health plan. Founded in 1945, it is a not-for-profit; group practice prepayment program headquartered in Oakland, Calif. Kaiser Permanente serves the health care needs of more than 8.7 million members in nine states and the District of Columbia. Today it encompasses the not-for-profit Kaiser Foundation Health Plan, Inc., Kaiser Foundation Hospitals and their subsidiaries, and the for-profit Permanente Medical Groups. Nationwide, Kaiser Permanente includes approximately 156,000 technical, administrative and clerical employees and caregivers, and more than 13, 000 physicians representing all specialties. For more Kaiser Permanente news, visit the KP News Center at: http://xnet.kp.org/newscenter.

Source: Danielle Cass
Kaiser Permanente Division of Research

Mirror, Mirror In The Brain: Mirror Neurons, Self-understanding And Autism Research
Taken from ScienceDaily.com - Autism News dated 11/07/2007

ScienceDaily (Nov. 7, 2007) — Recent findings are rapidly expanding researchers' understanding of a new class of brain cells -- mirror neurons -- which are active both when people perform an action and when they watch it being performed.

Some scientists speculate that a mirror system in people forms the basis for social behavior, for our ability to imitate, acquire language, and show empathy and understanding. It also may have played a role in the evolution of speech. Mirror neurons were so named because, by firing both when an animal acts and when it simply watches the same action, they were thought to "mirror" movement, as though the observer itself were acting.

Advances in the past few years have newly defined different types of mirror neurons in monkeys and shown how finely tuned these subsets of mirror neurons can be. New studies also have further characterized abnormal-as well as normal-mirror activity in the brains of children with the social communication disorder known as autism, suggesting new approaches to treatment.

"The tremendous excitement that has been generated in the field by the study of mirror neurons stems from the implications of the findings, which have led to numerous new hypotheses about behavior, human evolution, and neurodevelopmental disorders," says Mahlon DeLong, MD, of Emory University School of Medicine.

Mirror neurons, a class of nerve cells in areas of the brain relaying signals for planning movement and carrying it out, were discovered 11 years ago, an offshoot of studies examining hand and mouth movements in monkeys. Mirror neuron research in the intervening years has expanded into a diverse array of fields. And the implications have been enormous, encompassing evolutionary development, theories of self and mind, and treatments for schizophrenia and stroke.

Findings being presented at Neuroscience 2007 include new research based on work in monkeys, showing that subsets of mirror neurons distinguish between observed actions carried out within hand's reach and those beyond the animal's personal space.

In his study, Peter Thier, PhD, at Tübingen University, first identified a group of mirror neurons by recording single nerve cell activity from electrodes when a monkey gripped different objects and when the monkey watched a person grasp the same objects, both nearby and farther away. About half of the nerve cells that were active when the monkey picked up the objects also sprung into action when it watched a person do so. Thier was assisted by research fellow Antonio Casile and PhD student Vittorio Caggiano, and worked closely with the lab of Giacomo Rizzolatti, MD, at the University of Parma.

They also noticed that some of these confirmed mirror neurons were active only when the monkey was watching activity within its personal space, defined as within reaching distance; others responded only to actions performed in a place outside the monkey's grasp. Thier and colleagues recorded this preferential activity in 22 nerve cells, or together half of the mirror neurons. The other half of the mirror neurons showed activity that did not depend on how close the grasping action was to the monkey.

Although at this stage assigning a functional role is still speculation, Thier suggests this proximity-specific activity in mirror neurons may play an important role when we monitor what goes on around us, or serve as the basis for inferring the intentions of others and for cooperative behavior. "These neurons might encode actions of others that the observers might directly influence, or with which he or she can interact," he says.

Other findings show that mirror neuron activity is instrumental for interpreting the facial expressions and actions of others but may not be sufficient for decoding their thoughts and intentions.

The studies examined changes in certain electroencephalograms (EEG) or brain wave patterns known as mu rhythms, which have a frequency of 8-13 hertz, or oscillations per second. Previous findings based on EEG recordings from the part of the brain that is directly involved in relaying signals for movement and sensing stimuli, known as the sensorimotor cortex, indicate that mu rhythms typically are suppressed by mirror activity in premotor areas of the brain. However, this does not happen in children with autism. As a result, the new work suggests, alternative strategies for reading faces and understanding others develop in the brains of these children.

Pursuing two parallel studies, Jaime Pineda, PhD, at the University of California, San Diego, aimed to contribute evidence supporting one of two theories about the ways we evaluate the actions and intentions of other people-either implicitly or through language-based theoretical concepts.

Using EEG recordings to examine patterns of brain wave activity, Pineda first worked with 23 adults, who were asked to look at photos showing just the eye region of people making various facial expressions. In three separate trials, the subjects were asked to identify either the emotion, race, or gender of the people in the photographs. In a subsequent task, subjects looked at three-panel cartoon strips and were asked to choose a fourth panel that completed the strip-either the conclusion of a series of physical actions or the result of a person interacting with an object. A sequence of a prisoner removing the window of his cell, then looking at his bed, for example, could be followed by a frame of the prisoner asleep, yawning, or using the bedsheet to make a rope. Answering correctly depended on interpreting the cartoon character's intentions appropriately or understanding how physical objects interact.

Pineda repeated the studies with 28 children, 7 to 17 years old, half of whom had autism. The other half were typically developing children.

Recordings from the studies with adults showed a correlation between mu suppression, or mirror neuron activity, and accuracy for both tasks. In fact, the suppression of mu rhythms during the facial expression task also correlated with accuracy in the exercise with the cartoons, suggesting that reading people's expressions and interpreting their intentions may draw from similar activity in the brain.

Recordings from the typically developing children showed similar patterns of suppression during the two tasks, indicating that mirror neuron activity is fully developed by age 7.

In contrast, recordings from the children with autism showed that mu rhythms were enhanced during both tasks. Enhancement is an indication that the mirror neuron system is disengaged. However, because the children still were able to perform the task, Pineda says, "we propose that children with autism develop alternative, non-mirror neuron-based coping strategies for understanding facial expressions and interpreting others' mental states." He suggests that "these compensatory strategies involve inhibition of residual mirror neuron functioning."

These results could be applied to the development of treatments for autism. Pineda and his group have been using neurofeedback training to successfully renormalize functioning in this system. That is, they see mu suppression that is more characteristic of the typically developing brain following such training. "Our findings are consistent with the idea that mirror neurons are not absent in autism," Pineda says, "but rather are abnormally responsive to stimuli and abnormally integrated into wider social-cognitive brain circuits.

"This idea implies that a retraining of mirror neurons to respond appropriately to stimuli and integrate normally into wider circuits may reduce the social symptoms of autism."

Advances in recording brain activity also have made possible findings showing that mirror systems are active even when we are not observing an action with an eye to repeating it.

Suresh Muthukumaraswamy, PhD, at Cardiff University, found that the mirror system is activated when we watch specific actions, even when we are concentrating on a separate task.

The results are based on previous research showing that motor systems in the brain are activated when a person observes an action being performed and on interpretations suggesting that we understand and learn to imitate the actions of others through these brain mechanisms.

Working with 13 adults with an average age of 29, Muthukumaraswamy compared brain activity recorded via magnetoencephalography (MEG). This monitoring technique measures the weak magnetic fields emitted by nerve cells, and, recording from 275 locations, Muthukumaraswamy was able to monitor changes in activity every 600th of a second.

"Although MEG has been in existence for more than 20 years, recent advances in hardware, computing technology, and the algorithms used to analyze the data allow much more detailed analysis of brain function than was previously possible," he says.

Brain activity was recorded as the subjects passively watched a sequence of finger movements, watched the movements knowing they would be asked to repeat them, added up the number of fingers moved as they watched, and performed the sequence of movements themselves.

Results from these recordings showed similar activity when the subjects performed the movement sequence and when they watched someone else do it. In addition, Muthukumaraswamy noted increased activity in areas of the brain regulating motor activity when subjects observed the movements knowing they would later do them, and when they added up the number of fingers used, compared with passive watching.

"These data suggest that activity of human mirror neuron systems is generally increased by attention relative to passive observation, even if that attention is not directed toward a specific motor activity," says Muthukumaraswamy. "Our results suggest that the mirror system remains active regardless of any concurrent task and hence is probably an automatic system.

"A good scientific understanding of the properties of the mirror system in normal humans is important," he adds, "because this may help to understand clinical disorders such as autism where the mirror system may not be functioning normally."

Other findings based on EEG recordings provide the first evidence of normal mirror activity in children with autism: People familiar to children with autism may activate mirror areas of the brain in normal patterns when unfamiliar people do not.

Previous research has shown that mu rhythms are suppressed when a subject identifies with an active person being observed. Based on this work, Lindsay Oberman, PhD, at the University of California, San Diego, examined the role of two separate factors in the mirror system response of children with autism.

Six videos were shown to a group of 26 boys, 8 to 12 years old; half had autism. Three videos showed images representing varying degrees of social interaction: two bouncing balls (the baseline measurement), three people tossing a ball to themselves, and three people throwing the ball to each other and off the screen to the viewer. The other set of videos showed people with varying degrees of familiarity to the subjects: strangers opening and closing their hand, family members making the same hand movement, and the subjects themselves doing the same.

EEG recordings from 13 electrodes in a cap showed that mu activity was suppressed most when subjects watched videos of themselves, indicating the greatest mirror neuron activity. For both groups, the measurements showed a slightly lower level of suppression when subjects watched familiar people in the video and the least when watching strangers. This indicates that normal mirror neuron activity was evoked when children with autism watched family members, but not strangers.

"Thus, to say that the mirror neuron system is nonfunctional may only be partially correct," says Oberman. "Perhaps individuals with autism have fewer mirror neurons and/or less functional mirror neurons that require a greater degree of activation than a typical child's system in order to respond."

The mirror neuron system may react to stimuli that the observer sees as "like me." If this is the case, suggests Oberman, "perhaps typical individuals apply this identification to all people (both familiar and unfamiliar), resulting in activation of these areas in response to the observed stimuli, while individuals on the autism spectrum only consider familiar individuals (including themselves) as 'like me,' " she says.

This evidence for normal mirror neuron activity in autistic children may indicate that mirror system dysfunction in these cases reflects an impairment in identifying with and assigning personal significance to unfamiliar people and things, Oberman suggests. Whether deficits in relating to unfamiliar people that are characteristic of autism are the cause or the result of a dysfunctional mirror neuron system is unclear.

Adapted from materials provided by Society For Neuroscience.

New Reports Help Pediatricians Identify And Manage Autism Earlier
Taken from MedicalNewsToday.com - Autism News dated 11/01/2007

Two new clinical reports from the American Academy of Pediatrics (AAP) will help pediatricians recognize autism spectrum disorders (ASDs) earlier and guide families to effective interventions, which will ultimately improve the lives of children with ASDs and their families.

The first clinical report, "Identification and Evaluation of Children With Autism Spectrum Disorders," provides detailed information on signs and symptoms so pediatricians can recognize and assess ASDs in their patients. Language delays usually prompt parents to raise concerns to their child's pediatrician usually around 18 months of age. However, there are earlier subtle signs that if detected could lead to earlier diagnosis. These include:

-- not turning when the parent says the baby's name;

-- not turning to look when the parent points says, "Look at…" and not pointing themselves to show parents an interesting object or event;

-- lack of back and forth babbling;

-- smiling late; and

-- failure to make eye contact with people.

Most children, at some time during early development, form attachments with a stuffed animal, special pillow or blanket. Children with ASDs may prefer hard items (ballpoint pens, flashlight, keys, action figures, etc.). They may insist on holding the object at all times.

The report advises pediatricians to be cognizant of signs of ASD, as well as other developmental concerns, at every well-child visit by simply asking the parents if they or their child's other caregivers have any concerns about their child's development or behavior. If concerns are present that may relate to ASD, the clinician is advised to use a standardized screening tool. The report also introduces universal screening, which means pediatricians conduct formal ASD screening on all children at 18 and 24 months regardless of whether there are any concerns.

"Red Flags" that are absolute indications for immediate evaluation include:

-- no babbling or pointing or other gesture by 12 months;

-- no single words by 16 months;

-- no two-word spontaneous phrases by 24 months; and

-- loss of language or social skills at any age.

Early intervention can make a huge difference in the child's prognosis. "Autism doesn't go away, but therapy can help the child cope in regular environments," said Chris Plauche Johnson, MD, MEd, FAAP, and co-author of the reports. "It helps children want to learn and communicate."
Educational strategies and associated therapies, which are the cornerstones of treatment for ASDs, are reviewed in the second AAP clinical report, "Management of Children With Autism Spectrum Disorders." Early intervention is crucial for effective treatment. The report strongly advises intervention as soon as an ASD diagnosis is seriously considered rather than deferring until a definitive diagnosis is made. The child should be actively engaged in intensive intervention at least 25 hours per week, 12 months per year with a low student-to-teacher ratio allowing for sufficient one-on-one time. Parents should also be included.

Pediatricians who treat children with ASDs should recognize that many of their patients will use nonstandard therapies. The report says it's important for pediatricians to become knowledgeable about complementary and alternative medicine (CAM) therapies, ask families about current and past CAM use, and provide balanced information and advice about treatment options, including identifying risks or potential harmful effects. They should avoid becoming defensive or dismissing CAM in ways that convey a lack of sensitivity or concern, but they should also help families to understand how to evaluate scientific evidence and recognize unsubstantiated treatments.

"Many parents are interested in CAM treatments such as various vitamin and mineral supplements, chelation therapy, and diet restrictions. It's important for pediatricians to maintain open communication and continue to work with these families even if there is disagreement about treatment choices," said co-author of the reports Scott M. Myers, MD, FAAP. "At the same time, it's also important to critically evaluate the scientific evidence of effectiveness and risk of harm and convey this information to the families, just as one should for treatment with medication and for non-medical interventions."

Although use of the gluten-free/casein-free diet for children with ASDs is popular, there is little evidence to support or refute this intervention. More studies are in progress, and it is anticipated that these studies will provide substantially more useful information regarding the efficacy of the gluten-free/casein-free diet.

Tantrums, aggressive behaviors, and self-injury are common among children with ASDs, and medical factors may cause or exacerbate these behaviors. Behavior management strategies are often the most effective treatment for challenging behaviors. In some children, medications are effective in addition to the behavioral strategies. The report addresses the medical issues that some children with ASDs encounter such as seizures, gastrointestinal problems, and sleep disturbance, and provides guidance for medication management.

Both reports will be available on http://www.aap.org and will also be part of the new AAP practical resource for pediatricians "AUTISM: Caring for Children with Autism Spectrum Disorders: A Resource Toolkit for Clinicians," which includes screening and surveillance tools, guideline summary charts, management checklists, developmental checklists, developmental growth charts, early intervention referral forms and tools, sample letters to insurance companies and family handouts.

American Academy of Pediatrics (AAP)
141 Northwest Point Blvd.
Elk Grove Village, IL 60007-1098
United States
http://www.aap.org

Autistic Children Can Interpret Mental States When Facial Expressions Are Animated
Taken from ScienceDaily.com - Autism News dated 03/27/2007

ScienceDaily (Mar. 27, 2007) — Autistic children have long been thought to have difficulty interpreting people's mental states based on facial expressions, especially expressions around the eyes. Some researchers believe that this lack of ability could be central to the social problems experienced by these children. Now a new study finds that autistic children are able to interpret mental states when looking at animated facial expressions.

The study, conducted by researchers at the University of Nottingham, is published in the March-April 2007 issue of the journal Child Development.

Researchers edited images so that different parts of the face (eyes and mouth) remained static and neutral. This technique, known as "freezing," created seamless facial images that allowed the researchers to explore the importance of certain regions of the face in identifying mental states.

In one experiment, 18 autistic children ages 10 to 14 were able to attribute a range of mental states to dynamic and static facial expressions, but they did not perform as well as non-autistic children. The autistic children were better at recognizing mental states when the eyes and mouth conveyed information than when these facial features were static and neutral.

In a second experiment, 18 autistic children ages 11 to 15 were as successful as non-autistic children in interpreting mental states, whether they saw the eyes in isolation or in the context of the whole face. This indicates that autistic children do, in fact, make use of information from the eyes, a finding that contradicts prior studies.

"Previous findings show that children and adolescents with autism may have difficulty reading mental states from facial expressions but our results suggest that this is not due to an inability to interpret information from the eyes," said Elisa Back, formerly of the University of Nottingham and now a Research Fellow at the University of Birmingham and the study's lead author. "Surprisingly, autistic children seemed particularly reliant on the eyes and also the mouth when making mentalistic inferences.

"The conclusions of previous research are largely based on methods that present static photographs to participants," Back continued. "Our study indicates that a more accurate measure of the abilities of those with autism can be obtained through the use of sophisticated digital imaging techniques with animated facial expressions."

Reference: Child Development, Vol. 78, Issue 2, Do the Eyes Have It? Inferring Mental States from Animated Faces in Autism by Back, E, Ropar, D, and Mitchell, P (University of Nottingham).

Adapted from materials provided by Society for Research in Child Development.

New Protein Implicated In Autism
Taken From ScienceDaily.com - Autism News dated 03/27/2007

ScienceDaily (Mar. 27, 2007) — Autism is a common neurodevelopmental disorder characterized by severely impaired social, communicative, and behavioral functions. It is thought that genetic make-up predisposes an individual to autism, and several genes have been associated with the development of autism.

Although a region of human chromosome 7 has been identified to be associated with susceptibility to autism, none of the genes in this region had been directly implicated in the disorder until researchers from the RIKEN Brain Science Institute in Japan demonstrated that mice lacking the protein CADPS2 exhibited autistic-like characteristics.

In the study, which appears online on March 22 in advance of publication in the April print issue of the Journal of Clinical Investigation, Teiichi Furuichi and colleagues show that mice lacking CADPS2, which is encoded by a gene in the autism susceptibility region of human chromosome 7, had impaired social interactions (when pairs of CADPS2-deficient mice that had never met were placed together they interacted substantially less frequently than pairs of wild-type mice that had never met), hyperactivity, and decreased exploration of a new environment; all of which are characteristics of individuals with autism.

Importantly, an abnormal form of CADPS2 mRNA (which is an intermediate in the conversion of the CADPS2 gene to CADPS2 protein) was detected in some individuals with autism and was never detected in their healthy immediate relatives, leading to the suggestion that defects in CADPS2 function might predispose individuals to develop autism.

Adapted from materials provided by Journal of Clinical Investigation.