Exploring sensory modulation across rare genetic syndromes and exploring the behavioural phenotype of Pallister-Killian Syndrome

摘要

This thesis is presented in two volumes: the research (Volume One) and clinical (Volume Two) components. ududVolume One presents three research papers. The first paper is a systematic review exploring sensory modulation difficulties in rare genetic syndromes associated with Intellectual Disability and Autism Spectrum Disorder. The second is an empirical paper examining the behavioural phenotype in Pallister-Killian Syndrome (PKS). The third is a public dissemination report written to inform carers/parents of individuals with genetic syndromes with the results of the two papers. ududVolume two consists of five clinical practice reports (CPRs). CPR One presents two formulations (using behavioural and psychodynamic models) of a young girl with anxiety and a specific phobia of vomiting. CPR Two is a service evaluation determining if a neurodevelopmental pathway assessing ASD in young people met the standards of NICE guidelines. CPR Three is an experimental functional analysis of a young girl with Tuberculous Complex who was displaying aggressive behaviour. CPR Four is the case study, including assessment, formulation and intervention of a woman with schizoaffective disorder who required a relapse prevention plan. The abstract of CPR 5 (an oral case presentation) is the assessment of a man with Mild Cognitive Impairment, low mood and Leukaemia.