Turner syndrome: advances in understanding altered cognition, brain structure and function

Abstract

Purpose of review: Turner syndrome, which results from the complete or partial loss of a sex chromosome, is associated with a particular pattern of cognitive impairments and strengths and an increased risk for specific neurodevelopmental disorders. This review highlights recent progress in understanding brain structure and function in Turner syndrome and identifies several critical research needs.

Recent findings: Recent work on social cognition in Turner syndrome has identified a range of difficulties despite a maintained social appetite, a disconnect which could result in distress for affected individuals. Progress has been made in identifying foundational deficits in attention and executive function that could explain visual-spatial and arithmetical impairments. Neuroimaging studies have advanced our understanding of brain development and function through the application of cutting edge analysis techniques. Haploinsufficiency of genes, failure to express parentally imprinted genes, uncovering of X chromosome mutations, and gonadal steroid deficiency may all contribute to altered brain development, but additional work is required to link specific mechanisms to specific phenotypes. Also needed are studies of interventions to assist individuals with Turner syndrome in visual-spatial, mathematical, and social skills.

Summary: Ultimately a better understanding of brain structure and function in Turner syndrome will generate new therapeutic approaches for this population.