Social functioning and behaviour in mucopolysaccharidosis type I and other developmental genetic disorders

  • Annukka Lehtonen

Student thesis: Doctor of Clinical Psychology


This thesis investigates the behavioural phenotype, especially social functioning, in mucopolysaccharidosis type IH (MPS IH) and reviews research in social information processing in developmental genetic disorders in general. MPS IH is a developmental genetic disorder that causes severe physical symptoms and intellectual disabilities.Paper 1 presents a systematic literature review that aimed to review research on social information processing in genetic developmental disorders. Searches identified 23 articles and a quality assessment classified 15 of these as high quality. These articles were included in the review. The results showed that social information processing was impaired in sex chromosome aneuploidies, Turner syndrome, neurofibromatosis 1 (NF1), and Williams syndrome (WS). The findings suggest that problems with social information processing are part of the phenotype of several different developmental genetic disorders. In addition, social outcomes were lower than those of control children or in comparison to norms in NF1, deletion syndromes and WS. Thus, it is important to consider the potential social impairment in children with developmental genetic disorders when planning the care of these children and their families.Paper 2 is an empirical study investigating the behavioural phenotype in MPS IH with particular focus on social functioning and sleep. Participants were 22 children with MPS IH (mean age 9 years 4 months). Nine control children with intellectual disabilities were recruited as well, but due to the small size of the control group, the scores of the children with MPS IH were compared to questionnaire norms instead of the control group. The results indicated that 23 percent of children with MPS IH scored in the severe range on social functioning difficulties. Thus, children with MPS IH were more than 30 times more likely to score in the severe range than typically developing children. Children with MPS IH did not exhibit significantly more behaviour problems, but they scored higher than the norms on social, thought and attention problems and rule-breaking behaviour. They were also markedly impaired in all the competence areas (social, activities, school). The results indicate that these problems are part of the behavioural phenotype in MPS IH. They should therefore be considered in the design of clinical care of individuals with MPS IH and their families in terms of support and follow-up and for example facilitation of ASD diagnoses where appropriate.Paper 3 is a critical appraisal and reflection on the research process of both the literature review and empirical study, considering issues such as the quality ratings used in the literature review and the reasons for the small control sample in the empirical study. The implications of the decision to use norms rather than the control group as a comparison are discussed. This paper also considers the significance of the findings for the research in the field and the clinical care provided to children with developmental genetic disorders, MPS IH especially.
Date of Award1 Aug 2017
Original languageEnglish
Awarding Institution
  • The University of Manchester
SupervisorRichard Brown (Supervisor) & Adam Danquah (Supervisor)

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