8/7 - Lastest in Autism News

UNC Scientists Find A Single Mutation Can Cause Autism 

Researchers at the University of North Carolina School of Medicine discovered a single genetic mutation that can cause autism. Last December, scientists identified about 1,000 gene mutations linked to autism but how the mutations caused the disorder remained unknown. 

UNC associate professor Mark Zylka, Ph.D. and postdoctoral fellow Jason Yi, Ph.D., discovered an enzyme called UBE3A can be switched off when a phosphate is tacked onto it. In normal brain development, this enzyme can be turned on and off but this switch is blocked by the gene mutation in people with autism. 

"UBE3A is a protein that targets other proteins for destruction, so it’s like putting a flag on garbage that somebody else will pick up and throw away,” Zylka said. “We found the mutation hyperactivates the enzyme so it can’t be turned on or off, so it's constantly tagging proteins and things are being destroyed throughout the neuron."

Zylka and Yi examined the genes of children with autism and compared them to the genes of their parents who do not have the disorder. 

“The enzyme was hyperactive in the child’s cell but not the parents’ cells. All these mutations have been identified in kids with autism, but the ‘how’ is what nobody really understands,” Zylka said. “Our study shows that a mutation can hyperactivate an enzyme and that hyperactivation is increasing the number of spines in the brain, and we know the number of spines in the brain is seen in kids with autism.” 

Zylka said they will continue to study how the mutation specifically affects brain abnormalities in people with autism. 

The Centers for Disease Control and Prevention identifies 1 in 68 children in the United States with autism spectrum disorder (ASD). In North Carolina, the CDC identifies 1 in 58 children with ASD

Zylka and Yi’s research was published Thursday in the journal Cell. Zylka said his lab plans to use the discovery to find medication and therapy that could be used to treat autism patients.


8/4 - Latest in Autism News

Autism costs estimated to reach nearly $500 billion, potentially $1 trillion, by 2025

Researchers recommend broader access to early intervention, employment support

Health economists have for the first time projected the total costs of caring for all people with autism spectrum disorder in the United States for the current calendar year and in 10 years if effective interventions and preventive treatments for the condition are not identified and widely available.


UC Davis health economists have for the first time projected the total costs of caring for all people with autism spectrum disorder (ASD) in the U.S. for the current calendar year and in 10 years if effective interventions and preventive treatments for the condition are not identified and widely available.

Their forecasts for ASD-related medical, nonmedical and productivity losses are $268 billion for 2015 and $461 billion for 2025. The researchers noted that these estimates are conservative and, if ASD prevalence continues to increase as it has in recent years, the costs could reach $1 trillion by 2025.

The study is published online in the Journal of Autism and Developmental Disorders.

"The current costs of ASD are more than double the combined costs of stroke and hypertension and on a par with the costs of diabetes," said study senior author Paul Leigh, professor of public health sciences and researcher with the Center for Healthcare Policy and Research at UC Davis. "There should be at least as much public, research and government attention to finding the causes and best treatments for ASD as there is for these other major diseases."

Leigh hopes his findings inspire policy changes that emphasize early intervention to reduce ASD symptoms, along with employment and other programs that support the independence of adults with the disorder.

"This approach would ultimately save money that otherwise would be spent on expensive custodial care," Leigh said.

Leigh worked with co-author Juan Du, who received her doctoral degree at UC Davis, to determine the per-person and then total costs of ASD using data on medical services, residential care, special education, in-home care, transportation, employment support and lost productivity. Their information came from a variety of sources, including research literature, the U.S. Centers for Disease Control and Prevention, and the Bureau of Labor Statistics.

The evaluations included cost ranges that accounted for age, because services for people with ASD change throughout their lifespans, and the presence or lack of intellectual disability (formerly called "mental retardation"), which affects the intensity of services, along with varied estimates of population changes and ASD prevalence.

The team found that the comprehensive costs of ASD will range from $162 to $367 billion for 2015 (with the researchers' best estimate of $268 billion) and from $276 to $1 trillion (with the researchers' best estimate of $461 billion) for 2025. The 2015 figures are on a par with recent cost estimates for diabetes and exceed the combined costs of stroke and hypertension. If the prevalence of ASD continues to grow as it has in recent years, the costs likely will far exceed those of diabetes by 2025.

To reduce these multi-billion dollar totals, Leigh and Du recommend a research investment in ASD equal to that for diabetes, which is funded by the National Institutes of Health at more than five times the level of research on ASD.

"The staggering costs identified in this study should serve as a call to action," said Leonard Abbeduto, director of the UC Davis MIND Institute, an internationally recognized autism treatment and research center.

"We need more funding for research to understand the causes of, and develop treatments for, ASD," Abbeduto added. "We also need to ensure that all children have access to intensive early intervention; that school-based interventions to support academics, as well as social and language skills, are adequately funded; and that supports are put in place to ensure better post-secondary and vocational options for adults. Investing in these areas, I believe, will actually reduce the costs to society."

 July 28, 2015, University of California - Davis Health System

7/21 - Latest in Autism News

Children with autism sought for UW, national study to ID biological markers 

Children with autism will be examined by UW researchers to compare social impairment and social function and identify biomarkers for the disorder.

University of Washington researchers will be recruiting Seattle-area children with autism as part of a four-year, $28 million study at five sites across the nation to identify biological markers that could help diagnose, track and treat the disorder. 

The new Biomarkers Consortium project, announced Monday, will recruit about 600 children over 24 weeks at centers including UW/Seattle Children’s Research Institute, Duke University, Boston Children’s Hospital, the University of California at Los Angeles and Yale University. Principal investigator is James McPartland, director of the Yale Developmental Disabilities Clinic. 

Researchers will examine preschoolers ages 3 to 5 and school-aged kids ages 6 to 11, both with and without Autism Spectrum Disorder (ASD), to compare social impairment and social function. They’ll look at eye-tracking responses and brain activity for future clinical trials, officials with the National Institutes of Health (NIH) said in a statement. They’ll also collect blood samples from kids with autism and their parents for future analysis. 

“This is one of the largest single NIH-funded grants focused on autism ever,” Raphael Bernier, clinical director of the Seattle Children’s Autism Center, said in a statement. “It reflects the importance of this endeavor. We need to catch up with other clinical concerns like cancer and cardiovascular disease on establishing biomarkers for autism.”

The goal is to produce a set of markers of social and communication function in ASD that can be used to study long-term results in clinical and drug-development studies. 

About one in every 68 children in the U.S. is diagnosed with autism, according to the Centers for Disease Control and Prevention. About 1 percent of children worldwide have a condition on the spectrum, experts say.

ASD is a group of neurodevelopment disorders that affects social interaction and communication skills and can cause restrictive and repetitive behaviors. 

Families interested in participating can go online at www.asdbiomarkers.org or http://depts.washington.edu/rablab or call 206-616-2889. 

July 20,2015, By  JoNel Aleccia, Seattle Times health reporter

    7/13 - Latest in Autism News

    Brain Study Reveals Insights Into Genetic Basis of Autism

    UNSW Australia scientists have discovered a link between autism and genetic changes in some segments of DNA that are responsible for switching on genes in the brain.

    The finding is the result of a world-first study of the human brain that identified more than 100 of these DNA segments, known as enhancers, which are thought to play a vital role in normal development by controlling gene activity in the brain.

    "Our study provides a unique resource of information on gene function in the human brain which could help reveal the basis of autism and related neurological disorders," says lead author UNSW's Dr Irina Voineagu.

    The research is published in the journal Nature Neuroscience.

    A lot of research on the genetic causes of diseases, including autism, focuses on mutations in genes -- the segments of DNA that contain the blue-print for producing proteins in the cell. But protein-coding DNA accounts for less than 5 per cent of the full human genetic code.

    "The rest of the DNA is not just a lot of junk. Some segments of it -- the enhancers -- control when, and in which parts of the body, the genes become active," says Dr Voineagu, of the UNSW School of Biotechnology and Biomolecular Sciences.

    "These enhancers can harbour disease-causing mutations which would be missed in traditional studies of genes, but which are suspected of playing an important role in inherited neurodevelopmental and neuropsychiatric disorders.

    "The problem for researchers is that enhancers are hard to find, because they can be located a long way away from the genes that they control."

    In their comprehensive study, which involved a search of gene activity maps as well as testing of human brain tissue, the researchers identified more than 100 enhancers which were much more active in the brain than in other tissues.

    They did this by searching for the special RNA molecules that enhancers produce.

    They also provided initial evidence towards identifying which genes were being switched on by the enhancers.

    In a final step they also analysed whether any of the enhancers contained genetic changes already linked to a range of disorders including, attention deficit disorder, depression, bipolar disorder, schizophrenia and autism.

    The results were positive for autism.

    "Our study is the first to investigate how the activity of enhancers and genes are coordinated in the human brain, and the first to show that brain enhancers are linked to autism," says Dr Voineagu.

     July 13, 2015- University of New South WalesNote: Materials may be edited for content and length.