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

*Corresponding author for this work

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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 with 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
Issue number1
Publication statusPublished - 29 Mar 2022

Bibliographical note

Funding Information:
The authors would particularly like to thank Allison Kaczenski and Maria Walters for all of their efforts with international recruitment and for their continued support of this study. We are extremely grateful to all families who participated in this research.

Publisher Copyright:
© 2022, The Author(s).


  • Angelman syndrome
  • Autism
  • Behavioural phenotype
  • Challenging behaviour
  • Compulsive behaviour
  • Emotional characteristics
  • Repetitive behaviour
  • SATB2-associated syndrome
  • Stereotyped behaviour

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pathology and Forensic Medicine
  • Clinical Neurology
  • Cognitive Neuroscience


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