Loss of a small portion of chromosome 16, known as 16p11.2, is significantly associated with autism report researchers from the University of Chicago Medical Center, the University of Illinois at Chicago, and the Roswell Park Cancer Institute in a recent article, published online by the journal Human Molecular Genetics.

Although this genetic “microdeletion” occurred in only four out of 712 subjects with autism (0.6%), it is the second most common recurrent genomic disorder associated with autism, which affects about one out of 160 children in the United States.

“We suspect that 16p11.2 microdeletions are a risk factor for autism spectrum disorders generally and may cause mild autism in some families,” said study author Susan Christian, PhD, associate professor of human genetics at the University of Chicago. “By disturbing the network of affected genes, this loss of selected genes may underlie the development of autism.”

The deletion results in the loss of about 25 known genes. “Twelve of those genes appear to be part of a single genetic network that includes genes involved in cell-to-cell signaling and interaction,” said first author Ravinesh A. Kumar, PhD. postdoctoral scientist in human genetics at the University of Chicago, “At least three of the deleted genes are primarily expressed in the brain and are thought to influence behavior,” he added, “which makes them very promising candidates for autism.”

The authors suspect the lost or damaged genes may also be involved in other cognitive, language and social impairments.

To find genes linked to autism, the researchers scanned the entire genomes of 180 subjects with autism searching for submicroscopic pieces of DNA that were either lost or mistakenly duplicated in patients diagnosed with autism. They first found that two out of those 180 (1.1%) had a deletion in region 16p11.2, on the short arm of chromosome 16. None of the 372 control subjects had the same deletion.

To confirm that result, the researchers screened DNA from an additional 532 subjects with autism. They found two additional subjects with the same deletion (0.4%), which was seen in none of the 465 controls. Combining the two samples produced a total prevalence of 16p11.2 deletions of 0.6 percent.

The 16p11.2 region is flanked on both sides by bands of segmental duplications, short strings of nearly identical DNA that predispose to the loss, shuffling or amplification of this region during genetic recombination. “Many human diseases are caused by these types of chromosomal rearrangements, however, this is the first recurrent microdeletion in autism too small to be seen under a microscope,” said Christian.

The most common known genetic cause of autism, linked to about one to three percent of cases, is a much larger duplication of part of chromosome 15, involving about a dozen genes. The chromosome 15 abnormality is associated with autism as well as intellectual disability (www.idic15.org). The chromosome 16 deletion, by contrast, is not consistently associated with intellectual disability.

“Although this only explains about one-half of one percent of autism,” said co-author William Dobyns, professor of human genetics and pediatrics at the University of Chicago, “it provides the best clues yet for finding the specific genetic changes that lead to the disease. This is a small region with a limited number of genes, including several strong candidates, each of which merits a closer look. The next step is to find the specific gene or genes involved. There may be one gene within that deletion that is at the core of the problem.”

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.

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.

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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

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)

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.

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.

According to new research commissioned by the Foundation for People with Learning Disabilities, the annual cost of autism to the UK is just under £28 billion.

The findings, detailed in the Economic Consequences of Autism in the UK report, reveals that children with autism cost £2.7 billion a year, yet for adults the figure is £25 billion – more than eight times as much. There are approximately 540,000 people with autism in the UK – 433,000 adults and 107,000 children.

Funded by the Shirley Foundation and led by Professor Martin Knapp at the London School of Economics and King’s College London, the research shows that for adults with autism the highest costs are those generated by health and social care provision (59%), followed by lost employment (36%) and family expenses (5%).

Dr Andrew McCulloch, Chief Executive of the Foundation for People with Learning Disabilities, said:

“These figures illustrate the real cost of autism and give serious weight to the argument that more resources are needed to intervene early and effectively in the lives of those who are affected by the condition. Early intervention would help individuals with autism and their families experience a better quality of life and reduce the high costs incurred in later years, saving public money.

Children and adolescents with autism often receive adequate support up until school leaving age but are then left stranded with little hope of a meaningful future because they are given little support to enter further education or employment.”

The report says that more supported employment opportunities for people with autism are needed. Professor Martin Knapp from the London School of Economics, who led the research, said:

“Lost productivity for people with autism and their families costs the UK economy almost £10 billion. At a time when the government is emphasising the need for higher rates of economic activity, and is trying to support people with disabilities and long-term conditions to move into paid employment, these high costs stand out. Very few people with autism are in employment – it will be no easy task to achieve higher employment rates among this group but the figures suggest that the government should most definitely try.”

Autism is a lifelong developmental condition which affects people’s ability to communicate, form relationships and interact socially. Hilary Gilfoy, UK Chief Executive of research charity Autism Speaks, said:

“We now know what autism costs us but we still do not know what causes it or how best to intervene. These huge costs dwarf the tiny amount we spend on autism research, which must rise if we are to reduce the social as well as economic impact of this isolating and disabling condition.”

The research also estimates the lifetime cost to society for someone with autism to be as much as £4.7 million per person. The report’s findings are being presented to MPs in parliament today. The Foundation for People with Learning Disabilities is calling for a national strategy on autism to support affected individuals and their families, for more research into its causes, and improvements in service provision and employment opportunities.

The report is available to download from http://www.learningdisabilities.org.uk.

Notes:

A reception to launch the report, hosted by Jim Dowd MP, the Foundation for People with Learning Disabilities and Autism Speaks, will take place at the House of Commons from 4pm – 6pm on 19 November 2007.

The Economic Consequences of Autism in the UK report was commissioned by the Foundation for People with Learning Disabilities. Funded by the Shirley Foundation, the research was carried out by Martin Knapp, Renée Romeo and Jennifer Beecham of the King’s College London, Institute of Psychiatry.

The Foundation for People with Learning Disabilities promotes the rights, quality of life and opportunities of people with learning disabilities and their families.

Autism Speaks raises funds to accelerate biomedical research to determine and understand the causes and biological basis of autism spectrum disorders, and through that understanding to discover and promote new ways of improving the quality of life of all those affected.

Foundation for People with Learning Disabilities