Deleting both copies of a gene linked to tuberous sclerosis complex, an autism-related disorder, in only a subset of brain cells recapitulates many of the disorder’s symptoms in mice, according to a study published 9 May in Neuron.
Prenatal exposure of rats to the epilepsy drug valproic acid leads to behavioral and brain features that resemble autism, in males more than in females, according to a study published in the March issue of the Journal of Neurochemistry.
Children who carry an extra copy of the 15q11-13 region of the genome usually have autism and sleep troubles, as well as distinctive brain-wave patterns and facial features, according to a report published 14 March in Autism Research.
A growing number of studies suggest connections between Alzheimer’s disease, fragile X syndrome and autism, which could point the way to potential treatments.
In 2003, John Rubenstein and Michael Merzenich first described the theory, now popular in autism, that the disorder reflects an imbalance between excitation and inhibition in the brain. Takao K. Hensch and Parizad M. Bilimoria review the paper and its impact on the field.
Most boys who have an extra copy of the MeCP2 gene have a diagnosis of autism, but their symptoms differ from those of classic autism, according to a study published 20 November in Autism Research.
Mice lacking CDKL5, a gene linked to both Rett syndrome and autism, show features associated with both disorders, according to a study published 26 December in the Proceedings of the National Academy of Sciences.
Deletion of CHRM3, a gene on chromosome 1, leads to autism-like behaviors, according to a case study published 16 December in the European Journal of Medical Genetics.
Neurons in mice that model fragile X syndrome show immature, overexcitable firing patterns, particularly during sleep, according to unpublished research presented last week at the Salk Institute, Fondation IPSEN and Nature Symposium on Biological Complexity in La Jolla, California.
Of the 305 people diagnosed with autism in Utah in the 1980s, 29 have died. This is about ten times higher than the death rate in the general population during the same time period, according to a study published 25 September in the Journal of Autism and Developmental Disorders.