In the not-too-distant future, we may be able to diagnose toddlers with autism using a simple clinical test — based on voice patterns, blood or even urine.

Not all stem cells are created equal, a string of new studies suggests: adult cells that are reprogrammed into stem cells carry chemical remnants of the tissue from which they originate, making them distinct from embryonic stem cells. These differences may have important implications for studying fragile X syndrome and other diseases that arise from epigenetic glitches.

Scientists have for the first time captured a dynamic picture of brain defects in young mouse models of fragile X syndrome. The findings appeared in June in the Journal of Neuroscience.

Families affected by fragile X syndrome can let out a modest cheer this week: the largest-ever randomized trial of a drug to treat the syndrome has just cleared its second phase.

Scientists have discovered that neurexins — proteins linked to autism — bind to a wide variety of molecules at the junction between neurons. In this complicated system, the breakdown of any one of the parts could lead to improper cell signaling, ultimately giving rise to disease.

Researchers have pinpointed the brain circuits that underlie the vasopressin hormone’s role in regulating emotions.

Children with fragile X syndrome show abnormal growth in several brain structures during the first few years of life, according to the first study to track how the disease unfolds in the brain during early development.

Several independent groups have found previously unknown risk genes for autism, schizophrenia and mental retardation. The candidate genes have one thing in common: they encode proteins that are needed for the healthy function of synapses, the junctions between neurons.

A decade of research on the biology of autism, combined with a steady rise in diagnoses, has finally piqued the pharmaceutical industry’s interest in developing drugs for the disorder. Preliminary data from one small clinical trial already show positive results, and results from several others are expected early this summer.

A study of a rare form of epilepsy found in Amish groups adds heft to the idea that mTOR — a much-studied hub in a massive network of brain cell proteins — is an important biochemical player in autism.