Diagnosing autism is an evolving science but a crucial first step to understanding the disorder.
The mouse brain has more than 1,300 regions for which the copy from one parent is expressed more often than the one from the other parent, according to two studies published today in Science. These so-called imprinted genes have been proposed to cause some cases of autism, but the researchers say their findings do not support that theory.
A decade of research on the biology of autism, combined with a steady rise in diagnoses, has finally piqued the pharmaceutical industry’s interest in developing drugs for the disorder. Preliminary data from one small clinical trial already show positive results, and results from several others are expected early this summer.
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.
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.
Researchers can reliably identify individuals with autism by looking at the expression pattern of a set of genes in cultured blood cells, according to a poster presented Friday at the IMFAR 2010 conference in Philadelphia.
Some children with autism prefer to look at geometric patterns rather than at ‘social’ images of other children — and this tendency is obvious as early as 14 months of age, according to a poster presented today at IMFAR 2010 in Philadelphia.
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.
The older a grandmother was when she bore her grandchild’s mother, the greater the child’s risk of autism, according to a study published last month in PLoS One.
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.
