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Most cases of autism are not caused by a single genetic mutation. However, several disorders with autism-like symptoms, including the rare Fragile X syndrome, can be traced to a specific mutation. Several years ago, MIT neuroscientist Mark Bear discovered that this mutation leads to overproduction of proteins found in brain synapses — the connections between neurons that allow them to communicate with each other.
Potential clues to how autism miswires the brain are emerging from a study of a rare, purely genetic form of the disorders that affects fewer than 20 people worldwide. Using cutting-edge “disease-in a-dish” technology, researchers funded by the National Institutes of Health have grown patients’ skin cells into neurons to discover what goes wrong in the brain in Timothy Syndrome. Affected children often show symptoms of autism spectrum disorders along with a constellation of physical problems. Included in this report is a video summary of the study results.
Investigators in a population-based study in Denmark reporting today at the American Epilepsy Society’s 65th annual meeting have found there is an increased risk of autism spectrum disorder and childhood autism in children born of mothers who are exposed to the anticonvulsant valproate during pregnancy. The Lead investigator was Dr. Jakob Christensen of Aarhus University [...]
Epilepsy is common in children with autism spectrum disorders (ASD). A new study indicates their epilepsy is surprisingly photosensitive as well. Since photosensitive epilepsies can be triggered by flickering lights, the self-stimulatory behavior of ASD children, such as hand flapping in front of the face, has the potential to dramatically increase the risk of inducing photosensitive seizures.
Research presented today at the American Epilepsy Society’s 65th annual meeting suggests that systematic screening for developmental delay (DD) and autism should be routine for all children seen in epilepsy clinics. Investigators at Children’s Memorial Hospital, Chicago, evaluated the potential of giving screening questionnaires to parents of pediatric epilepsy patients seen in an epilepsy monitoring unit (EMU) and a ketogenic diet clinic.
In a small, preliminary study that included 13 male children, those with autism had an average 67 percent more prefrontal brain neurons and larger than average brain weight, than children without autism, according to a study in the November 9 issue of JAMA. The study was carried out by Eric Courchesne, Ph.D., of the NIH-UCSD School of Medicine Autism Center of Excellence, La Jolla, Calif., and colleagues.
In a study conducted at 12 university-based research sites, there was wide variation in how best-estimate clinical diagnoses within the autism spectrum were assigned to individual children, according to a study being published Online First by the Archives of General Psychiatry, one of the JAMA/Archives journals. The research was carried out by Catherine Lord, Ph.D., of Weill Cornell Medical College, White Plains, New York, and colleagues.
Neurons in the prefrontal cortex of individuals with autism show changes at numerous sites across the genome, according to a study being published Online First by the Archives of General Psychiatry, one of the JAMA/Archives journals. The study was carried out by Hennady P. Shulha, Ph.D., of the University of Massachusetts Medical School, Worcester, Mass., and colleagues.
We must stop considering the different brain structure of autistic individuals to be a deficiency, as research reveals that many autistic people – not just “savants” – have qualities and abilities that may exceed those of people who do not have the condition, according to a provocative article published today in Nature by Dr. Laurent Mottron at the University of Montreal’s Centre for Excellence in Pervasive Development Disorders.
Researchers at UCLA have found a possible explanation for why autistic children act and think differently than their peers. For the first time, they have shown that the connections between brain regions that are important for language and social skills grow much more slowly in boys with autism than in non-autistic children. Included in this report is a video time lapse comparison of normal brain versus autistic brain development.
