Behavioural and psychological characteristics and difficulties associated with Sotos syndrome in adolescence/adulthood: A follow-up study

Behavioural correlates of specific genetic conditions are increasingly researched. Such research is often of high priority for people with genetic conditions, their families and for healthcare professionals. This thesis sought to add to the knowledge base in relation to two genetic conditions. Literature Review: The systematic literature review explores literature reporting on behavioural and psychological characteristics associated with Phelan-McDermid syndrome (PMS), a rare genetic condition caused by mutation at chromosome 22q13. Whilst previous summaries have indicated possible association with psychological and behavioural characteristics, there are no known systematic reviews to date. The prominent reported characteristics were developmental delay and delayed speech, while Autism Spectrum Disorder and autistic features were reported frequently. Evidence for other characteristics was less robust. Findings and conclusions are discussed in relation to quality appraisal, clinical implications and directions for future research. Research Report: The research report comprises a seven-year follow-up study of temporal development in the behavioural and psychological characteristics associated with Sotos syndrome, a rare genetic condition associated with mutation in the NSD1 gene at chromosome location 5q35.2-q35.3. Parents and carers of individuals with Sotos syndrome who completed a previous study were invited to complete an online survey and telephone interview assessing adaptive behaviour, impulsivity, repetitive behaviour, challenging behaviour, mood, social communication and anxiety. The results indicated significant reductions in impulsivity and overactivity. There were indications of a changing picture of Autism Spectrum Disorder phenomenology over time. Aspects of repetitive behaviour continued to be prevalent, and an anxiety profile with peaks in panic, obsessive-compulsive behaviour and social avoidance was illustrated. Findings are discussed in relation to theoretical, clinical and research implications. Critical Appraisal: The critical appraisal provides a reflection of the author’s journey throughout the research process.