Mental Health in Rare Genetic Syndromes Associated with Intellectual Disability

Abstract

There are few mental health assessment measures for people with intellectual disabilities, specifically suitable for those who speak few or no words, have co-occurring conditions or rare genetic syndromes. Existing measures may not be suitable as they rely on verbal ability or do not consider the unique behavioural presentation of anxiety in these groups. The overarching aim of this thesis is to validate a new anxiety screening tool in a group of people with heterogeneous intellectual disability, as well as fragile X syndrome (FXS) and Cornelia de Lange syndrome (CdLS). Chapter one introduces anxiety in intellectual disabilities, FXS and CdLS, and presents the aims of the thesis. Chapter two presents an exploratory factor analysis and psychometric properties of a new anxiety screening tool, the Clinical Anxiety Scale for People with Intellectual Disability (ClASP-ID). Chapter three presents a confirmatory factor analysis of the ClASP-ID in an independent sample, alongside psychometric properties. Chapter three also identifies rare genetic syndrome groups with the highest scores on the ClASP-ID. Chapter four presents initial validation of the ClASP-ID in FXS and CdLS, through qualitative feedback from interviews with professionals experienced working with FXS and CdLS. Chapter four also investigates psychometric properties of the ClASP-ID in FXS and CdLS. Chapter five explores the relationships between the ClASP-ID and other assessments of anxiety in FXS and CdLS, including diagnostic interviews, physiological data and behavioural assessments. Chapter six uses the newly validated ClASP-ID to identify correlates of anxiety in FXS. Chapter seven provides an overview of the main findings, implications of the work, strengths and limitations of the thesis and directions for future work. This thesis produces in depth validation of an anxiety screening tool, which can be used in clinical practice and future research.

Date of Award	Sept 2025
Original language	English
Awarding Institution	Aston University
Supervisor	Jane Waite (Supervisor), Joanne Tarver (Supervisor) & Georgie Agar (Supervisor)