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Spectrum: Autism Research News

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Rare or common, inherited or spontaneous, mutations form the core of autism risk.

March 2012

Molecular mechanisms: Extra MeCP2 affects brain signaling

by  /  30 March 2012

Mice with an extra copy of MeCP2, the Rett syndrome gene, have impaired signaling between neurons in the hippocampus, a brain region that plays an important role in memory, according to a study published 29 February in The Journal of Neuroscience.


Uncommon testing

by  /  27 March 2012

A new study published in the Journal of Genetic Counseling confirms the relative infrequency of genetic testing for autism.


Genetics: Autism risk higher in full than in half siblings

by  /  23 March 2012

Full siblings are twice as likely as half siblings to share a diagnosis of autism, according to a short report published 28 February in Molecular Psychiatry. The results suggest that genetic factors play an important role in the risk of developing autism, the researchers say.


Scientists link new deficits to FOXP2 mutations in mice

by  /  22 March 2012

Mice with mutations in a gene tied to language impairment and to autism have trouble learning to associate sounds with motor patterns, says a study published last week in PLoS ONE.


Online tool can predict effects of genetic variants

by  /  21 March 2012

Researchers have developed a tool that can predict whether DNA mutations that change a single base pair are likely to alter RNA splicing, a process that modifies the sequence of mRNA, the genetic message that codes for protein. The results were published 10 February in Bioinformatics.


Molecular mechanisms: Maternal infection linked to autism

by  /  21 March 2012

Molecules generated by an immune reaction in pregnant rats affect the brains of their offspring, leading to changes in gene expression, according to a study published 30 January in Brain, Behavior and Immunity.


Bone marrow transplant alleviates Rett symptoms in mice

by  /  19 March 2012

A bone marrow transplant from healthy mice to those lacking the MeCP2 protein, which causes Rett syndrome, extends lifespan and alleviates symptoms of the disorder, according to research published online 18 March in Nature.


Incidental findings

by  /  16 March 2012

A survey asks clinical geneticists what type of incidental findings should be returned to people who have their genomes sequenced.


Imaging study reveals insula disruption in Williams syndrome

by  /  15 March 2012

A detailed brain imaging study of people with Williams syndrome, a developmental disorder characterized by a highly sociable personality, has found a series of structural, functional and connectivity deficits that converge on a part of the brain called the insula. The findings were published online 12 March in Proceedings of the National Academy of Sciences.


Autism mutations lead to scores of symptoms in rodents

by  /  14 March 2012

Mutations in more than 100 autism-associated genes lead to shared neurobiological deficits in mice, including alterations in the shape of their brains and changes to the electrical properties of neurons, according to a study published 20 February in Molecular Autism.