Mutations in MeCP2, the Rett syndrome gene, prevent changes to DNA that dampen gene expression, according to two studies published 16 June in Nature and Nature Neuroscience. 

The majority of people lacking a functional copy of the SHANK3 gene have both autism and severe intellectual disability, according to a study published 11 June in Molecular Autism.

Duplication of a chromosomal region that includes the autism-linked gene MBD5 leads to intellectual disability, language impairment and autism-like symptoms, according to a study published 1 May in the European Journal of Human Genetics.

Using a little-known brain-imaging technique, a new study shows that children with autism have low levels of gamma-aminobutyric acid (GABA), a chemical that keeps brain signals in check.

Insulin-like growth factor 1, a drug approved for use in children with short stature, reverses neurological deficits in mice with an autism-linked mutation in the SHANK3 gene, according to a study published 27 April in Molecular Autism. 

Studying regression in Rett syndrome may help us understand the phenomenon in autism, as it occurs at the same time in both disorders and includes many of the same features, says Jeffrey Neul.
 

The lack of substantial evidence to support the use of music therapies for autism limits its implementation in schools and clinics, says Anjana Bhat.
 

The brainstems of children with autism are smaller than average, but reach sizes similar to those of controls by age 15, according to a two-year imaging study published 22 April in Behavioral Brain Research.

Deletions in neurexin-1, a candidate gene for autism, may cause intellectual disability, speech delays, seizures, poor muscle tone and unusual facial features, according to two studies published in the past two months.

A single gene mutation leads to Rett syndrome, but other variants may modify the severity of an individual’s symptoms, according to a study published 28 February in PLoS One.