A new study suggests that a questionnaire often used to screen for autism doesn’t work well in a rural, low-income group, highlighting the need for diverse screening tools.

A rare deletion on chromosome 16 is more common in individuals who have schizophrenia than in controls, according to a large genetics study published 16 January in JAMA Psychiatry. This region is close to 16p11.2, implicated in both autism and schizophrenia.

The search for rapid autism diagnosis has been elusive so far. Several researchers are instead looking for ways to prioritize the assessment of children at risk for the disorder, quickly establishing a diagnosis when it’s clear-cut and referring more complex cases for in-depth evaluation.

The pupils of children with autism react to light more slowly and less efficiently than those of controls, according to a study published 18 December in the Journal of Autism and Developmental Disorders.

Most boys who have an extra copy of the MeCP2 gene have a diagnosis of autism, but their symptoms differ from those of classic autism, according to a study published 20 November in Autism Research.

Researchers have identified several harmful autism-linked mutations in a family of proteins that regulate the expression of various genes, they reported 10 October in Autism Research.

Smart risk management has propelled Benjamin Philpot from one adventure to another, whether it’s attempting unusual drug screens, learning to rock climb or taking his family to see volcanoes in Chile. His optimism and scientific vigor have led to discoveries for the rare Angelman syndrome, and for the wider autism spectrum.

Babies at high risk for developing autism are more likely than controls to have delays in acquiring motor skills, according to two long-term studies published in the past few months.

Loss of one copy of TBR1, an autism-linked gene involved in fetal brain development, leads to brain malformations, according to a study published in the September issue of Molecular Syndromology.

Two new case studies highlight how complex rearrangements of chromosome 15 can lead to different disorders, including autism and the related Prader-Willi syndrome.