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

Stacey Bissell, Chris Oliver, Joanna Moss, Mary Heald, Jane Waite, Hayley Crawford, Vishakha Kothari, Lauren Rumbellow, Grace Walters, Caroline Richards

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Article number25
Number of pages21
JournalJournal of Neurodevelopmental Disorders
Publication statusPublished - 29 Mar 2022

Bibliographical note

© 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.


  • 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


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