A gene’s length may influence its expression, and this has implications for autism, which tends to be linked to particularly long genes, says Mark Zylka. 

About one in four people diagnosed with a group of rare disorders have autism, according to a study published 7 October in the Journal of Medical Genetics. The disorders all affect a single cancer-related pathway, driven by a protein called RAS.

Children with autism go to sleep later, wake up earlier and have less restful sleep than other children their age, reports an 11-year study published 23 September.

Elliott Sherr is unraveling the effects of genetics and brain structure in a handful of disparate disorders that each illuminates some aspect of autism.

Clinicians should place children under age 5 who have developmental delay into a broad diagnostic category, called ESSENCE, which may then resolve into any number of individual diagnoses over time, says Christopher Gillberg. 

An enzyme that may keep RNA tangle-free as it’s translated into protein is missing in some people with schizophrenia and learning difficulties. The enzyme also cooperates with the protein missing in fragile X syndrome to bind RNA, suggesting a role in protein synthesis. That’s the upshot from two studies published in the September Nature Neuroscience.

Fragile X syndrome is the leading cause of inherited intellectual disability and often autism, but most people who work with special-needs children lack basic knowledge about the syndrome, according to a new study.

Spontaneous mutations are elevated in people with autism, but only in those who also have intellectual disability, according to unpublished data presented yesterday at a conference in Cambridge, Massachusetts. 

The autism-like features seen in related neurological disorders may be the result of intellectual disability and not a shared underlying biology, says Alan Packer.
 

Harmful mutations in MeCP2 don’t always lead to Rett syndrome, and the syndrome can result from mutations in other genes, according to a study published 26 June in the Journal of Molecular Diagnostics.