Behaviours that challenge in SATB2-associated syndrome

Abstract

[Thesis in two volumes] Behaviours that challenge (BtC) are frequently reported in individuals with SATB2-associated syndrome (SAS) and identified as a key area of unmet need and priority for research within the SAS community. Despite this, limited research has focused on BtC in SAS, impeding evidence-based approaches to intervention and support. This thesis aims to address this gap using a variety of methodological approaches. Chapter One provides a detailed account of SAS, highlighting BtC as the thesis focus and presenting an overview of dominant causal theories for BtC. Chapter Two utilises questionnaire methodology to identify associations between BtC and aspects of the clinical and behavioural phenotype. Potential risk markers for different categories of BtC are identified. Chapter Three presents a systematic review and meta-analysis synthesising measurement properties for measures of BtC and behavioural function in intellectual disability populations, informing the selection of measures in subsequent empirical chapters. Chapter Four utilises a mixed-methods questionnaire and interview approach to capture detailed caregiver perspectives on the profile and aetiology of aggression. SAS-associated vulnerabilities to aggression, such as thwarted desires, unexpected changes and deviations to routine, are identified. Cognitive and emotional processes (e.g., executive function and anxiety) are also indicated to contribute to BtC. Chapter Five proposes a pathway from cognitive difference to BtC, specifically aggression and destruction, based on findings from previous chapters. Multi-method assessments are used to explore the profile of executive functions in SAS and the proposed pathway to BtC. Clinically significant executive function difficulties are indicated, with dissociable age-related trajectories. Preliminary support for the proposed pathway to behaviours that challenge is provided. Chapter Six synthesises findings from all empirical chapters, discussing the implications, strengths, and weaknesses of the thesis, alongside directions for future research. The thesis significantly contributes to the understanding of BtC in SAS, informing early identification, intervention and support for these behaviours.