The ever-curious and energetic Ricardo Dolmetsch is taking skin cells from individuals with various types of autism and turning them into neurons in the lab. The approach could reveal the cellular basis of the disorder and point to new treatments.

Spontaneous and inherited mutations in SHANK3 both inhibit the protein’s role at synapses, the junctions between neurons, according to a study published 24 May in Molecular Psychiatry.

Photographs that reveal minor physical abnormalities often seen in children with autism or other developmental disabilities could be useful as a first screen for autism, according to a study published 24 May in Autism.

Several targeted trials on drugs that treat fragile X syndrome are under way. But accurate endpoints to measure the drugs’ effectiveness are crucial, argues developmental and behavioral pediatrician Randi Hagerman.

A new study calls into question the assumption that Rett syndrome is exclusively a neurodevelopmental disorder caused by the lack of a critical protein in utero.

In the past year, several studies have suggested that brain scans will soon help clinicians diagnose autism. But many experts say these scans are far from — and may never be — ready for use as diagnostic tests.

A new online database that compiles genomic sequence information for 162 mouse strains shows that classical laboratory strains have limited genetic diversity, according to a report published 29 May in Nature Genetics.

Adults with autism who have high intelligence quotients (IQ) are better at identifying the direction of biological motion than are those with lower IQ scores, according to a study published 3 May in the Journal of Autism and Developmental Disorders.

Researchers have upended a central tenet of biology by showing that there are more than 10,000 sites in the human genome where RNA sequences do not match the DNA sequences from which they are transcribed. The findings were published 19 May in Science.

Researchers have identified hundreds of previously unknown connections between proteins involved in autism spectrum disorders, according to a report published last week in Science Translational Medicine.