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The current thesis aimed to explore the psychological and behavioural profile of specific genetic syndromes. This was achieved by a systematic literature review and meta-analysis of the prevalence rate of several genetic syndromes, as well as an empirical study into autism spectrum disorders and anxiety in Malan Syndrome and Sotos Syndrome. Systematic literature review and meta-analysis: A systematic literature review and meta-analysis was conducted to investigate the association between ADHD and genetic neurodevelopmental syndromes. A pooled estimate was calculated using a random effects model and heterogeneity between studies was explored. The estimate across syndromes was estimated at 0.34 (95% CI 0.30 - 0.37) and high heterogeneity was identified. Different analyses were conducted to try to identify potential causes of high heterogeneity and prevalence rate estimates were recalculated as an attempt to correct for this. The genetic syndrome with the highest uncorrected estimate was seen in Fragile X, with an estimate of 0.47 (95% CI 0.38 - 0.57), and the lowest was seen in Turner Syndrome, with an estimate of 0.18 (95% CI 0.08 - 0.28). Research report: Anxiety and Autism Spectrum Disorder (ASD) traits have been associated with Sotos syndrome and Malan syndrome ("Sotos syndrome 2"). However, research in both are limited and the profile of difficulties has not been previously fully explored. Parents/caregivers of 15 children with Malan syndrome and 9 children with Sotos syndrome completed an online survey and results were compared with existing data to explore the specific profile of difficulties in both syndrome groups. Results suggested ASD may be characteristic of Malan syndrome although not to the same extent as Sotos syndrome and idiopathic ASD. Similar levels of anxiety were seen in Malan syndrome and idiopathic ASD although this was lower than seen in Sotos syndrome. The study concludes that both ASD and anxiety may be characteristic of Malan syndrome, although potentially not to the same extent as in Sotos syndrome.

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.