Update on Clinical Features and Brain Abnormalities in Neurogenetics Syndromes

Abstract

Neuroimaging methods represent a critical tool in efforts to join the study of the neurobiology of genes with the neurobiology of behaviour, and to understand the neurodevelopmental pathways that give rise to cognitive and behavioural impairments. This article reviews the clinical features and highlights studies with a focus on the relevant gene-brain-behaviour connections observed in neurogenetic syndromes, such as Williams, Rett, Fragile X, Prader-Willi, Angelman, Down and velocardiofacial (22q11.2 deletion) syndromes. The relationship of altered brain regions and activation patterns are discussed for each syndrome, as well as the clinical, cognitive and behavioural correlates of these neuroimaging findings.

Social‐emotional instability in individuals with Rett syndrome: parents' experiences with second stage behaviour

“…Another finding from our study is that parents see not only regular negative behaviour (such as screaming and crying) during the second stage but also ‘non‐appropriate’ behaviour (such as laughing when something sad happened). This could be related to the brainstem immaturity of individuals with RTT: a large number of previous studies have observed disturbances in brainstem autonomic function (Glaze & Schulz ; Trevarthen & Burford ; Jackowski et al ; Smeets et al ; Steinbusch et al ). Bergström‐Isacsson et al () recently described frequent and very frequent abnormal spontaneous brainstem activation (ASBA's) in their participants.…”