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.
Two proteins involved in shuttling other proteins between the outside and inside of a cell show a distinct pattern of expression in autism brains, according to a report published 19 March in Molecular Psychiatry.
Conversations with researchers at the 2013 International Meeting for Autism Research in San Sebastián, Spain, raised provocative questions about the nature of autism. How do we make sense of its staggering heterogeneity, multiple genetic causes and widespread overlap with other disorders?
Intellectual disability, autism, epilepsy and schizophrenia should be considered part of a spectrum of developmental brain dysfunction, says David Ledbetter.
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.
Deletions in the autism-linked gene AUTS2 trigger a variety of symptoms, including intellectual disability, developmental delay, a small head and unusual facial features, suggests a large study published 7 February in the American Journal of Human Genetics.
Individuals who have childhood-onset schizophrenia carry more DNA deletions and duplications associated with other disorders, such as autism, than their unaffected siblings do. The unpublished research was presented 16 January at the Salk Institute, Fondation IPSEN and Nature Symposium on Biological Complexity in La Jolla, California.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.
Children with the autism-related disorder tuberous sclerosis complex show sluggish brain activity in response to images of faces, according to a study published 8 November in the Journal of Child Neurology.
An autism-linked protein called CASPR2 promotes the development of dendrites, the bushy structures atop neurons that receive signals from other neurons, according to a study published 30 October in Proceedings of the National Academy of Sciences. Lowering CASPR2 levels leads to sparse dendrites and few synapses, the junctions between neurons.