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The prevalence of Autism Spectrum Disorder (ASD) and its defining features has been increasingly investigated in genetic syndromes associated with intellectual disability, with syndrome specific profiles reported. The experience of catatonia and other movement disorders in people with ASD has been increasing highlighted within both research and diagnostic guidelines. However, these issues have not typically been investigated alongside other features of ASD within research into genetic syndromes. The first paper in this thesis provides a review of the literature on movement disorders in genetic syndromes associated with ASD, which focuses on the prevalence of reported movement disorders, the methods of assessment used, and the quality of research to date. An empirical study is reported in Paper 2. Within a cohort of individuals with Cornelia de Lange and Fragile X syndromes the prevalence of attenuated behaviour [autistic catatonia] is examined, based on parent/carer report, and the extent to which features of ASD predict later attenuated behaviour is investigated. Paper 3 provides a critical reflection on the first two papers as well as some wider considerations on undertaking research in this area. The results of both the literature review and the empirical study indicated that across a number of genetic syndromes (Angelman syndrome, Cornelia de Lange syndrome, Fragile X syndrome and Rett syndrome) attenuated behaviour [autistic catatonia] and/or movement disorders affect a substantial proportion of individuals. Furthermore, repetitive behaviours, one of the characteristic features of ASD, appear to predict later attenuated behaviour in Cornelia de Lange and Fragile X syndromesThe results presented in this thesis have important implications for the way services support individuals with specific genetic syndromes. Paper 1 confirms the high prevalence of movement problems in Angelman and Rett syndromes, and Paper 2 provides a new insight into movement problems in Cornelia de Lange and Fragile X syndromes. Movement disorders are reported to impact negatively on wellbeing and quality of life in people with ASD, and are likely to have a similar impact on the lives of people with genetic syndromes. Greater awareness and recognition of movement problems in CdLS and FXS is required, and although specialist services may already be aware of some of the above issues, there should be an increased emphasis on ensuring that community services are aware of the needs of individuals with genetic syndromes, including the implications of movement problems for support needs and quality of life.

In order to provide early intervention services for aggressive and self-injurious behaviour to a total population of children with intellectual disabilities, a community strategy must be developed, to complement programmes within specialist schools, services and support groups. Within this thesis a number of important elements of a community early intervention strategy were explored. A recruitment strategy based within community child health services was trialled. Within the community cohort of children identified specific putative risk markers for aggressive and self-injurious behaviour were examined, indicating several suitable candidates for screening. A more in depth examination of this community cohort highlighted a complex psychological profile, with high levels of Autism Spectrum Disorder and Attention Deficit/ Hyperactivity Disorder type characteristics. An assessment protocol based on traditional functional analytic methods was also trialled within a sub-group of high risk children. Whilst a useful starting point was identified for the majority of children, serious barriers to recruitment were identified, and a more comprehensive assessment protocol is required. High levels of parental anxiety and depression symptoms, associated with avoidant coping strategies and negative views about child behaviour, were also reported. The results presented within this thesis have important implications for the development of a community early intervention pathway. Specific considerations relating to screening, recruitment, assessment and family context are necessary when implementing early intervention within a community cohort of children.