A new wave of genetic tests for fragile X syndrome, the leading cause of inherited mental retardation and the most common genetic cause of autism, may make it possible to routinely screen pregnant women and newborns for the syndrome.
Telling jokes allows children to connect with others, refine their language skills and develop keen imaginations. Because these are precisely the skills lacking in people with autism, studying humor in children with the disorder may give insights into their abnormal brain circuitry and even lead to therapies, according to a review published in the Journal of Child Neurology.
A drug that interferes with a biochemical pathway important in cancer can reverse some brain defects in mouse models of fragile X syndrome, according to a study published 11 August in the Journal of Neuroscience.
Racial minorities are under-represented in genetic studies, in part because research guidelines do not account for differences in family structure, according to a report based on statistics from several autism gene banks. In response to the report, research teams at Stanford University and the University of California, Los Angeles, are revamping their recruitment practices.
Autism and intellectual disability often occur together, but in most cases that overlap is not genetic, according to a study of twin pairs published in the American Journal of Medical Genetics. Unraveling this link might help researchers pinpoint brain circuits involved in both conditions, and better understand the diversity of symptoms in the autism spectrum, experts say.
A new model that compares how the same genes behave in different organisms could help researchers identify previously unknown candidates for diseases such as autism. The model, published in the Proceedings of the National Academy of Sciences, takes advantage of the genetic overlap between humans and simpler organisms to discover genes associated with complex diseases.
Variations in two genes needed to form connections between brain cells may be associated with autism spectrum disorder, according to a study published 25 March in Molecular Autism. Some variants in the genes seem to increase susceptibility to autism, whereas others protect children from developing the disorder.
Random changes in gene expression can cause genetically identical embryos to develop different traits, according to a study of worms published in Nature. The findings suggest that haphazard movements of molecules could partly explain why autism-associated mutations don’t always cause the same symptoms.
The ability to recognize faces and interpret facial expressions is programmed partly by genes and inherited separately from other traits, according to three independent studies published this year.