People with autism who have mutations in a gene called PTEN have a distinct profile of cognitive impairments and structural abnormalities in the brain. The profile, published 7 October in Molecular Psychiatry, points to a subtype of autism with these features.
Mice with an extra copy of the autism-linked gene UBE3A show abnormal social behavior after experiencing recurrent seizures. The findings, presented Tuesday at the Autism Consortium Research Symposium in Boston, provide one possible explanation for why seizures and autism often go hand in hand.
A new algorithm allows researchers to search among hundreds of genes and identify those involved in building synapses, the junctions that transmit signals between neurons, according to a report published 14 March in PLoS One.
Male mice that carry a specific mutation in the autism-linked PTEN gene have enlarged brains and show heightened interest in other mice, according to a study published 7 February in Human Molecular Genetics.
Removing the fragile X syndrome gene from two brain regions in mice leads to signaling defects but does not produce behavioral deficits, according to a study published in the February issue of Autism Research.
Studies at the level of neural circuits are needed to better understand the importance of both increased and decreased connectivity between different regions in the autism brain, say John Rubenstein and Vikaas Sohal.
Loss of one copy of the autism-linked gene PTEN in mouse neurons boosts production of a certain ion channel, and decreases the neurons’ firing rate, according to a study published 21 October in Proceedings of the National Academy of Sciences.
Children who have autism and large heads may belong to different clinical subsets based on the ratio between their head size and height, according to a study published in the February issue of Autism Research.
Elevated levels of EIF4E, which plays a key role in protein synthesis, lead to autism-like behaviors and abnormal neuronal signaling in mice, according to a study published 17 January in Nature.
Children with autism and their unaffected twins have heads that are significantly larger than average, according to a study published 16 January in the Journal of Autism and Developmental Disorders.