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


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 individuals with SAS (aged 1-36 years; 43 male). Within-group associations were analysed, and categorical data were compared between pre-school (1-5 years), school-age (6-15 years) and adolescent and adult SAS sub-groups (16 years and over). Cross-syndrome subscale and item-level analyses were conducted for 63 individuals with SAS (aged 1-27 years; 31 male), who were matched according to age and level of ability to 63 individuals with AS (aged 2-25 years; 32 male) and 63 individuals with non-syndromal autism (aged 3-26 years; 53 male). Results: In SAS higher rates of overactivity were moderately associated with lower self-help ability, and higher general anxiety scores were reported for males compared to females. Cross-syndrome subscale analyses uncovered several significant differences (p < .01); with comparatively low rates of: stereotyped behaviour, overactivity, insistence on sameness and positive affect, and comparatively greater interest and pleasure and compulsive behaviour in individuals with SAS. Item-level analyses revealed a distinct profile of repetitive and autistic behaviours. Limitations: Developmental analysis was based on a cross-sectional rather than a longitudinal research design, the contribution of pain and sleep to behaviour was not explored, and molecular genetic testing to determine genotype–phenotype behavioural relationships was not possible. Conclusions:  This study highlights the importance of behavioural comparisons to well-delineated groups and the utility of fine-grained item-level analyses to elucidate aspects of behaviour that might be syndrome related or shared across neurodevelopmental disorders. Future research is needed to further describe the distinctive repetitive and autistic behavioural phenotype in SAS.

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Divisions: College of Health & Life Sciences > School of Psychology
College of Health & Life Sciences > Aston Institute of Health & Neurodevelopment (AIHN)
Additional Information: © The Author(s) 2022. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit The Creative Commons Public Domain Dedication waiver ( applies to the data made available in this article, unless otherwise stated in a credit line to the data.
Uncontrolled Keywords: Abnormalities, Multiple,Adolescent,Child, Preschool,Craniofacial Abnormalities,Cross-Sectional Studies,Female,Humans,Intellectual Disability/complications,Male,Matrix Attachment Region Binding Proteins/genetics,Phenotype,Transcription Factors/genetics
Publication ISSN: 1866-1955
Last Modified: 27 May 2024 07:37
Date Deposited: 29 Mar 2022 08:02
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Related URLs: https://jneurod ... 1_GL01_metadata (Publisher URL)
PURE Output Type: Article
Published Date: 2022-03-29
Accepted Date: 2022-02-14
Authors: Bissell, Stacey
Oliver, Chris
Moss, Joanna
Heald, Mary
Waite, Jane (ORCID Profile 0000-0002-8676-3070)
Crawford, Hayley
Kothari, Vishakha
Rumbellow, Lauren
Walters, Grace
Richards, Caroline



Version: Accepted Version

Access Restriction: Restricted to Repository staff only


Version: Published Version

License: Creative Commons Attribution

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