Picking the top ten papers in a field is always challenging, but the outpouring of high-quality autism research in 2012 made that task especially difficult. Below is a selection of just some of these papers, selected by SFARI staff and presented in chronological order. SFARI director Gerald Fischbach expounds on the list in this column.
Elsabbagh M. et al. Curr. Biol. 22, 338-342 (2012) PubMed
Derecki N.C. et al. Nature 484, 105-109 (2012) PubMed
Hsiao E.Y. et al. Proc. Natl. Acad. Sci. USA 109, 12776-12781 (2012) PubMed
O’Roak B.J. et al. Nature 485, 246-250 (2012) PubMed
Sanders S.J. et al. Nature 485, 237-241 (2012) PubMed
Neale B.M. et al. Nature 485, 242-245 (2012) PubMed
Iossifov I. et al. Neuron 74, 285-299 (2012) PubMed
Large-scale swapping of genetic material between chromosomes may play an important role in autism, according to a study published 27 April in Cell.
Talkowski M.E. et al. Cell 149, 525-537 (2012) PubMed
Losing one or both copies of TSC1, one of the two genes responsible for tuberous sclerosis complex, in specific cells of the cerebellum can trigger several autism-like behaviors in mice, according to research published 1 July in Nature.
Tsai P.T. et al. Nature. 488, 647-651 (2012) PubMed
MET, a leading candidate gene for autism risk, influences the strength of connections between brain regions involved in social behaviors, and this effect is especially prominent in people with the disorder. The findings are from a large study using several imaging techniques, published 6 September in Neuron.
Rudie J.D. et al. Neuron 75, 904-915 (2012) PubMed
A drug called arbaclofen improves behavioral problems in people with fragile X syndrome, an inherited condition that can lead to mental retardation and autism, according to the results of a clinical trial published 19 Septemberin Science Translational Medicine. A second study published in the same issue showed that the drug restores normal brain function in a mouse model of the syndrome.
Berry-Kravis E.M. et al. Sci. Transl. Med. 4, 152ra127(2012) PubMed
Henderson C. et al. Sci. Transl. Med. 4, 152ra128 (2012) PubMed
Sensory responses in the brain of an individual with autism vary much more than in someone without the disorder, according to a study published 20 September in Neuron. This may explain why some people with autism are extremely sensitive to lights and sounds.
Dinstein I. et al. Neuron 75, 981-991 (2012) Abstract
Individually, common genetic variants confer little risk for autism. But taken together, they may contribute significantly, predicts a statistical analysis published 15 October in Molecular Autism.
Klei L. et al. Mol. Autism 3, 9 (2012) PubMed
Early intensive therapy may normalize the brain’s response to faces in young children with autism, according to a study published in the November issue of the Journal of the American Academy of Child and Adolescent Psychiatry. The results are part of a randomized, controlled trial of a treatment called the Early Start Denver Model.
Dawson G. et al. J. Am. Acad. Child Adolesc. Psychiatry 51, 1150-1159 (2012) PubMed