Rare or common, inherited or spontaneous, mutations form the core of autism risk.
Children with autism carry many more spontaneous point mutations in genes expressed in the brain compared with their unaffected siblings, according to unpublished findings presented Monday at the World Congress of Psychiatric Genetics in Washington, D.C.
Researchers have developed standard genetic reference samples that clinicians can use to diagnose Angelman and Prader-Willi syndromes, two disorders associated with the same chromosomal region.
A variant of the FGF14 gene may decrease the volume of the amygdala, a brain structure needed to interpret emotions in facial expressions, according to results presented on Sunday at the World Congress of Psychiatric Genetics in Washington, D.C.
Loss of MeCP2, the Rett syndrome gene, in neurons that release the chemical messenger dopamine may lead to the motor deficits associated with the syndrome.
The offspring of older male mice are 16 times more likely to harbor a spontaneous copy number variation — a deletion or duplication of genetic material — than are the offspring of young males, according to a new study.
Even small head movements inside a brain scanner can affect results, according to a report published 23 July in Neuroimage.
Two autism-associated genes that function at the synapse, the junction between neurons, are associated with severe intellectual disability, according to a study published 9 August in BMC Medical Genetics.
Collapsing the three core domains of autism — impairments in social interaction, communication deficits, and repetitive and restricted behaviors — into two makes no difference in the accuracy of diagnosis, according to a statistical analysis published 20 August in the Journal of Autism and Developmental Disorders.
Researchers have created the first mouse model of Timothy syndrome, a rare genetic disorder that causes heart defects and autism. The findings appeared 30 August in the Proceedings of the National Academy of Sciences.
A new review suggests that sleep problems in neurodevelopmental disorders don’t just reflect underlying weaknesses in neural circuitry; they actively intensify these deficits.
