A study of a rare form of epilepsy found in Amish groups adds heft to the idea that mTOR — a much-studied hub in a massive network of brain cell proteins — is an important biochemical player in autism.
Spectrum: Autism Research News
Diagnosing autism is an evolving science but a crucial first step to understanding the disorder.
People with autism harbor more copy number variants (CNVs) — deletions or duplications of large chunks of DNA — compared with controls, but only in the protein-coding regions of the genome, researchers reported Wednesday in Nature. The study also pinpointed more than 100 new risk genes for autism.
Chromosomal microarray analysis, which screens the entire genome for tiny blips in the sequence, should be the first genetic test performed when diagnosing autism, says a consortium of clinical geneticists. The recommendation comes on the heels of a study that found the test is three times more effective at spotting autism variants than are standard clinical methods.
Children with Williams syndrome — a rare genetic disorder that leads to mental retardation and overt friendliness — hold stereotypes based on gender, but not race, according to a report published in Current Biology. Because those with Williams syndrome don’t have social fear, the study suggests racial stereotypes are based partly on fear.
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.
Some brain areas involved in speech are larger and some smaller in children with autism compared with healthy controls, according to a series of imaging studies conducted by a Boston research group.