Using population-specific growth curves for Inuit children could promote the appropriate diagnosis of microcephaly and avoid overdiagnosis, according to a new study. Inuit children from Nunavut, ...

BUFFALO, N.Y. — The absence of one copy of a single gene in the brain causes a rare, as-yet-unnamed neurological disorder, according to new research that builds on decades of work by a University at ...

Autism is a developmental disorder that affects 1 in 59 children in the U.S. Mutations in specific genes, such as PTEN, can explain many autism cases. While children with mutations in PTEN exhibit ...

image: This is a summary of treatment of an infant with hydrocephalus-related extreme macrocephaly. The uppermost image shows the infant with gross macrocephaly before surgery. The sutures are widely ...

In this study, we report a novel ARID1B mutation identified by whole-exome sequencing in a patient with clinical features characteristic to CSS. The patient is a 16-year-old female. She is the only ...

A team of doctors and practitioners implanted a ventriculoperitoneal shunt followed by a new operation to stabilize and reduce the size of the baby’s head in it's first week of life - the first time ...

This study was approved by the Ethics Committees of the Universities of Erlangen-Nürnberg, Leipzig, and Oxford. Informed consent of patient 1 (P1) and both parents (including their consent for P2) was ...

Various brain functions are thought to contribute to autism spectrum disorder (ASD) — yet, despite ongoing studies, scientists have not been able to pinpoint its specific roots. However, new research ...