Catatonia is a neuropsychiatric condition characterized by physical presentations ranging from profound immobility to excessive motor activity. In the past, catatonia was considered a variant of schizophrenia. However, newer data suggests catatonia is a clinical expression of many different medical or psychiatric components. A prompt diagnostic evaluation should identify any underlying diseases with consideration of somatic pathologies, especially those affecting central nervous system function. The recognition of catatonia among providers is relatively poor. It is often seen as a historical diagnosis. Because of this, catatonia is often undiagnosed. If patients in catatonic states are not diagnosed, their condition is likely to progress with a risk of increased morbidity and potentially fatal outcome. Lorazepam or electroconvulsive therapy (ECT) are considered the standard of care for treatment of catatonia. Zolpidem has been used successfully as a rapid test for patients suspected to be catatonic.This case report explores zolpidem as a long-term treatment option when standard therapies are not tolerated or ineffective. In order to recognize catatonia, apart from thorough and repeated observation, a clinical examination is needed. The Bush-Francis Catatonia Rating Scale is a quantifiable examination designed to screen and diagnose the possibility of catatonia. We investigated Zolpidem’s impact on a patient’s Bush-Francis Catatonia Rating Scale score. Scores were collected weekly for two months. There were five different resident physicians who conducted these examinations. Results of this work identified a reduction in Bush-Francis Catatonia ratings in seven out of the eight weeks of this study, suggesting that there may be a link between Zolpidem use and a reduction in catatonic symptoms. Limitations to this study included the subjective nature of the rating scale, along with the potential for variability in assessment standards, stemming from the fact that multiple examiners were used to conduct ratings. Because catatonia is a medical emergency, it is of utmost importance to gather a detailed history and conduct a rigorous medical workup to help confirm the diagnosis. While Lorazepam and ECT remain the standard of care, this study demonstrates that there may be a potential benefit to the use of Zolpidem in catatonia.

The thesis presents a series of papers exploring catatonic symptoms and circadian rest-activity levels in autistic spectrum disorders (ASD). The thesis is presented in paper-based format and encompasses a literature review, an empirical paper and a critical appraisal. Paper 1 is a systematic review of available treatments for autistic catatonia. Catatonic symptoms are thought to occur in around 8% of young people with ASD, and it has been suggested that biological timing abnormalities may play a key role in the development of these difficulties. Twenty two papers were included in the final review, detailing treatment of a total of 28 cases of autistic catatonia. Both adult and paediatric cases were included. The range of treatments described encompassed electroconvulsive therapy, various psychotropic medications, behavioural and sensory therapies. The review highlights limitations in the available literature and suggests avenues for future research. Paper 2 explores circadian patterns in activity using actigraphy. A case series of 8 young people with an ASD diagnosis were recruited from specialist schools and asked to wear an actigraph for one week. Parents completed questionnaire measures of ASD traits and symptoms of autistic catatonia. Findings indicated a high degree of variability in circadian rest-activity cycles, both between participants and across the week. The study findings have implications for future research into circadian rest-activity levels in this population, as well as possible therapeutic applications. The final paper in the thesis presents a critical appraisal of the research, including discussion of strengths and limitations of the work, theoretical and clinical implications and directions for future research. Some personal reflections on the process of conducting the research are also included.

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.