A drug called arbaclofen improves behavioral problems in people with fragile X syndrome, an inherited condition that can lead to mental retardation and autism, according to the results of a clinical trial published today in Science Translational Medicine. A second study published in the same journal showed that the drug restores normal brain function in a mouse model of the disorder.

Compounds that target the receptor for the chemical messenger serotonin could help treat fragile X syndrome, according to a study published 17 July in Biological Psychiatry.  

TAOK2, a gene in the autism-associated 16p11.2 chromosomal region, is part of a signaling pathway that builds neuronal connections during development, according to a study published 10 June in Nature Neuroscience.

The protein missing in people with fragile X syndrome may activate the expression of a signaling protein dubbed NOS1 during prenatal development of brain regions involved in language and social skills, according to a study published 11 May in Cell.

FMRP, the protein missing in people with fragile X syndrome, localizes in clusters of proteins at neuronal junctions that relay sensory and motor information, according to a study published 23 April in The Journal of Comparative Neurology.

A promising approach to treating fragile X syndrome could benefit people even after the critical window of early brain development, and alleviate core symptoms of autism, according to two studies published this month.

Children with autism carry twice as many new and damaging genetic mutations as typically developing children, according to a new study published in Neuron. The researchers also identified intriguing genetic links between autism and fragile X syndrome.

A cellular pathway that initiates protein synthesis may be overactive in individuals with fragile X syndrome, according a study published 23 January in Genes, Brain and Behavior.

Researchers have identified a new mechanism that may underlie a runaway cell signaling pathway in fragile X syndrome. The results were published 22 January in Nature Neuroscience.  

By screening the genomes of hundreds of people with autism and analyzing the effects of newly identified mutations in cultured neurons, researchers have clarified the disorder’s link to the SHANK2 gene.