The behavioural phenotype of SATB2-associated syndrome: a within-group and cross-syndrome analysis.

ABSTRACT:

Background

SATB2-associated syndrome (SAS) is a multisystem neurodevelopmental disorder characterised by intellectual disability, speech delay, and craniofacial anomalies. Although the clinical presentation of SAS is well-delineated, behaviours associated with SAS are less well-defined. Given the varied social profile reported in SAS of a 'jovial' predisposition and autistic behaviours, there may be phenotypic overlap with both Angelman syndrome (AS) and non-syndromal autism. This study aimed to describe behaviours in SAS in relation to chronological age and level of ability and contrast aspects of the behavioural phenotype with AS and non-syndromal autism.

Methods

Informant report questionnaire measures of behaviour, emotion, and autism characteristics were completed for 81

SUBMITTER: Bissell S 

PROVIDER: S-EPMC8966214 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature