The new diagnosis for intellectual disability emphasizes what children with the disorder can do rather than what they cannot. Some researchers are arguing for a similar ‘ability framework’ for autism.     

An online catalog helps clarify the roles of thousands of spontaneous mutations in four neuropsychiatric disorders, including autism.

Treatments for fragile X syndrome may be more successful if they block direct targets of the key missing protein, says Eric Klann.

Mutations in the gene DYRK1A underlie a type of autism marked by an unusually small head. The new work expands the breadth of symptoms included under the autism umbrella.

Blocking an enzyme involved in learning and memory corrects brain abnormalities and improves memory in fly and mouse models of fragile X syndrome.

The autism-linked gene AUTS2 activates a group of genes that may be important for early brain development. The findings, published 18 December in Nature, hint at AUTS2’s potential role in autism and other developmental disorders.

Names such as autism, schizophrenia and intellectual disability are ‘umbrella’ terms that muddy the search for the true cause of an individual’s symptoms, says Eric London. He plans to come up with an alternative diagnostic scheme for developmental disabilities over the next two years.

Researchers have for the first time isolated and characterized protein complexes found at the points of connection between neurons. Mutations in some of these proteins are linked to autism.

Getting to a diagnosis of autism or another neurodevelopmental disorder is a long and frustrating experience for some families — especially when it comes to finding the underlying genetic cause. DNA sequencing could ease this arduous journey.

Researchers are taking a second look at dozens of autism candidate genes, sequencing them in thousands of individuals to bolster the evidence linking them to autism.