1/16 - Latest in Autism News

Chuck E. Cheese’s Eyes Autism Market

Children’s entertainment center Chuck E. Cheese’s is looking to make its offering more accessible to kids with autism and other special needs.

The restaurant chain says it is introducing “Sensory Sensitive Sundays,” a monthly event designed to provide a sensory-friendly environment.

During the two-hour offerings for families of those with special needs, participating Chuck E. Cheese’s will dim their lights, have smaller crowds, limit costumed characters and refrain from playing music or having other shows.

After a successful pilot in Attleboro, Mass., the company said it’s expanding Sensory Sensitive Sundays to 54 locations in Massachusetts, Connecticut, New Hampshire, Rhode Island, New York and New Jersey with an eye toward a rollout across the country later this year.

“The buzz and feedback we’ve been receiving has been super positive so we’re hoping to offer it nationwide sooner rather than later,” said Christelle Dupont of CEC Entertainment, the parent company of Chuck E. Cheese’s.

Sensory Sensitive Sundays are scheduled for the first Sunday of each month from 9 a.m. to 11 a.m.

by Shaun Heasley | January 13, 2017

1/9 - Latest in Autism News

Increased reaction to stress linked to gastrointestinal issues in children with autism

One in 45 American children lives with autism spectrum disorder, according to the Centers for Disease Control and Prevention. Many of these children also have significant gastrointestinal issues, but the cause of these symptoms is unknown. Now, researchers from the University of Missouri School of Medicine suggest that the gastrointestinal issues in these individuals with autism may be related to an increased reaction to stress. It's a finding the researchers hope could lead to better treatment options for these patients.

"We know that it is common for individuals with autism to have a more intense reaction to stress, and some of these patients seem to experience frequent constipation, abdominal pain or other gastrointestinal issues," said David Beversdorf, M.D., associate professor in the departments of radiology, neurology and psychological sciences at MU and the MU Thompson Center for Autism and Neurodevelopmental Disorders. "To better understand why, we looked for a relationship between gastrointestinal symptoms and the immune markers responsible for stress response. We found a relationship between increased cortisol response to stress and these symptoms."

Cortisol is a hormone released by the body in times of stress, and one of its functions is to prevent the release of substances in the body that cause inflammation. These inflammatory substances -- known as cytokines -- have been associated with autism, gastrointestinal issues and stress. The researchers studied 120 individuals with autism who were treated at MU and Vanderbilt University. The individuals' parents completed a questionnaire to assess their children's gastrointestinal symptoms, resulting in 51 patients with symptoms and 69 without gastrointestinal symptoms.

To elicit a stress response, individuals took a 30-second stress test. Cortisol samples were gathered through participants' saliva before and after the test. The researchers found that the individuals with gastrointestinal symptoms had greater cortisol in response to the stress than the participants without gastrointestinal symptoms.

"When treating a patient with autism who has constipation and other lower gastrointestinal issues, physicians may give them a laxative to address these issues," Beversdorf said. "Our findings suggest there may be a subset of patients for which there may be other contributing factors. More research is needed, but anxiety and stress reactivity may be an important factor when treating these patients."

January 4, 2017, Materials provided by University of Missouri-Columbia. Note: Content may be edited for style and length.

1/2/17 - Latest in Autism News

Mutations in ‘Essential Genes’ Tied to Greater Risk for Autism

Genes known to be essential to life — those we need to survive and thrive in the womb — may play a significant role in the development of autism spectrum disorder (ASD), according to a new study by geneticists at Pennsylvania Medicine.

Based on a genetic analysis of more than 1,700 families, researchers found that a greater level of mutations in these “essential genes” was significantly linked to an increased risk for ASD and decreased social skills. Specifically, siblings with ASD had much higher levels of damaging mutations in essential genes compared to their non-affected siblings. Essential genes also constituted a significant fraction of known ASD risk genes.

Brain function may be especially sensitive to an accumulation of mutated genes, say the researchers. Therefore, identifying specific sets of genes in which mutations might trigger a behavioral effect will help shed light on how such an accumulation can result in diseases, such as ASD.

“This makes our jobs harder, with respect to treatment, but these findings are absolutely critical for our understanding of the disease,” said senior author Maja Bucan, Ph.D., a professor of Genetics in the Perelman School of Medicine at the University of Pennsylvania. “We know it’s not one gene that’s causing autism spectrum disorders; it’s a background of mutations, which we know is important. Here, we show what this background is.”

The findings suggest that ASD stems from a combined effect of many damaged essential genes that “work” together during the early stages of development in the womb — as early as eight weeks after conception. ASD is what’s known as a polygenic disease, the authors said, where many small gene effects contribute to a disorder.

For the study, researchers analyzed almost 4,000 essential genes and 5,000 non-essential genes in 2,013 males with ASD and 317 females with ASD, as well as their siblings who did not have ASD, for known exonic de novo (began in the child) and inherited mutations.

The researchers used data from the Simons Simplex Collection, a repository of genetic samples from 2,500 families with ASD under the Simons Foundation Autism Research Initiative.

They found that those with ASD had statistically significant elevated levels of mutations in essential genes compared to their siblings. The essential gene mutations were associated with a higher risk of ASD and disruption in normal social behavior.

On average, those with ASD had 44 percent more early-in-childhood mutations and 1.3 percent more inherited mutations in essential genes than their non-affected siblings.

The researchers put together a list of 29 “high-priority” essential genes that are co-expressed in the developing human brain with previously identified ASD-associated genes. Such genes could serve as targets for future functional and behavioral studies that could not only add to the growing body of knowledge on the disease but also potentially impactful treatments.

“We provided another way to prioritize autism genes,” said first author Xiao Ji, a doctoral student in Bucan’s lab. “We now see that essential genes are much more likely to be associated with autism than non-essential genes. Focusing in on this group of genes will help shed more light on the complex genetic architecture of this disorder.”

The study is published online in the journal Proceedings of the National Academy of Science.

January 2, 2017, By Traci PedersenPerelman School of Medicine, University of Pennsylvania

12/24 - Latest in Autism News

Genetic cause identified for previously unrecognized developmental disorder

An international team of scientists has identified variants of the gene EBF3 causing a developmental disorder with features in common with autism. Identification of these gene variants leads to a better understanding of these complex conditions and opens the possibility of diagnosing other previously undiagnosed patients with similar clinical disorders. The study appears in the American Journal of Human Genetics.

"We investigate the genetic causes of complex neurological conditions of various types, such as autism spectrum disorders and intellectual disability," said first author Dr. Hsiao-Tuan Chao, postdoctoral research fellow of pediatric-neurology at Baylor College of Medicine. "Such conditions are long-lasting, manifest very early in life and range from mild to severe. They can affect different neurological functions; however, sometimes they have overlapping similarities. For many of these conditions there is no definite diagnosis, treatments are limited and there is no cure." Chao and colleagues have taken a step toward better understanding some of these conditions. They discovered new mutations of the gene EBF3 in three patients presenting with a newly described syndrome. "The patients' main features include developmental delay, coordination problems, limited facial expressions at an early age and abnormal verbal communication and social behaviors. They can also present with repetitive motor movements, high threshold to pain and cognitive impairments," said Chao. "This newly described syndrome has many similarities with what we see in autism spectrum disorders, but also important differences."

The researchers used whole exome sequencing, a laboratory technique that allows the identification of all the genes in an individual's genome. In the patients, they identified two new variants of the gene EBF3 that were not present in the patients' parents. Mutations of EBF3 are rare in the general population but more common in a population of individuals with autism spectrum disorders and intellectual disability.

"The gene is known to be essential for normal development of the nervous system," said Chao. "It is one of the key factors involved in how neurons develop and connect with each other, but has not been studied in detail. In animal models, mutations that cause the gene to lose its function result in death of the embryo. EBF3 had never before been associated with a disease."

Models show gene EBF3 causes neurodevelopmental disorders

That the three patients with developmental disorders have mutations in the same gene is not sufficient proof that the mutations cause the condition. To determine whether the mutations can cause neurodevelopmental problems the scientists tested the effect of the mutations in the laboratory fruit fly, Drosophila melanogaster.

"We genetically engineered fruit flies to carry the mutations present in the patients," said Chao. "The defective gene product was not able to carry on the functions of the normal gene; the effect is so severe that the fly embryos do not survive. On the other hand, when we introduced the normal version of the human gene, the files developed normally."

Improved diagnosis

The identification of variants of EBF3 that can cause neurodevelopmental disorders has improved the genetic diagnosis of these conditions."We are able to provide a genetic diagnosis for patients who did not know the cause of their condition," said Chao. "This provides some relief to their parents and the possibility of reaching for support from a community of parents whose children are affected by similar disorders. In addition, by gaining a better understanding of how people are affected by EBF3 dysfunction, we as physicians are better equipped to prognosticate the developmental outcomes for these children." "Being able to see our research in fruit flies help us diagnose a patient in our own hospital was very gratifying. Knowing the genetic basis allows for more insights into this disorder of the brain," said Dr. Michael F. Wangler, assistant professor of molecular and human genetics at Baylor, a senior author on the paper.

December 23, 2016, Materials provided by Baylor College of MedicineNote: Content may be edited for style and length.