Infants with fragile X syndrome spend more time looking at a toy before switching their attention elsewhere than do healthy controls, according to a study published 1 July in the Journal of Autism and Developmental Disorders.

The protein missing in people with fragile X syndrome regulates the activity of more than 800 other proteins, including some key players in autism, according to a study published 22 July in Cell. Many of these autism-associated proteins cluster on either side of the synapse, the junction between neurons.

Small fragments of RNA, called microRNAs, can fine-tune the levels of proteins at the junctions between neurons in response to cell signals, according to a study published 10 June in Molecular Cell.

Blocking a chemical messenger — a much-touted approach to treating fragile X syndrome — is unlikely to completely reverse symptoms of the disorder, according to a provocative new study. The results, published in May in Behavioural Brain Research, show only modest behavioral improvements with the approach.

Women with a mild version of primary ovarian insufficiency, a disorder that mimics the symptoms of menopause, should be tested for a mutation that can lead to fragile X syndrome, according to a study published 15 June in Human Reproduction.

A plan by an American Psychiatric Association revision committee to remove Rett syndrome from the Diagnostic and Statistical Manual of Mental Disorders (DSM) has sparked concern among some parents and researchers. But proponents of the change say the plan has been widely misunderstood, and their goal is better treatment for people with the neurodevelopmental disorder.

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.

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.

A drug called arbaclofen has matriculated to a phase III clinical trial, the last and most difficult step on the long road to regulatory approval.

What’s known about the genetics of autism supports the ‘snowflake’ hypothesis — that the molecular underpinnings of disease are essentially unique from individual to individual — says human geneticist Brett Abrahams.