Abstract
Background: Mucopolysaccharidosis type IH (MPS-IH) [Hurlers Syndrome] is a developmental genetic disorder characterised by severe physical symptoms and cognitive decline. This study aimed to investigate the behavioural phenotype of MPS-IH treated by haematopoietic cell transplantation, focusing on social functioning and sleep. Parental stress was also measured.
Methods: Participants were 22 children with MPS-IH (mean age 9 years 1 month), of whom 10 were male (45%). Parents completed the Social Responsiveness Scale (SRS), Child Behaviour Checklist (CBCL), Children’s Sleep Habit Questionnaire and Parent Stress Index, Short Form (PSI-SF).
Results: Twenty-three per cent of children with MPS-IH scored in the severe range of the SRS, suggesting significant difficulties in social functioning. Children with MPS-IH were more than 30 times more likely to receive scores in the severe range than typically developing children. Thirty-six per cent scored in the mild-to-moderate range, suggesting milder, but marked, difficulties in social interaction. Although children with MPS-IH did not show significantly higher rates of internalising, externalising or total behaviour problems than the normative sample, they received scores that were significantly higher on social, thought and attention problems and rule-breaking behaviour, and all the competence areas of the CBCL. Parents of children with MPS-IH did not score significantly higher on parental stress than parents in a normative sample.
Conclusions: Parents of children with MPS-IH rate their children as having problems with social functioning and various areas of competence more frequently than previously thought, with implications for clinical support.
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Communicated by: Olaf Bodamer, MD PhD
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Synopsis
Children with MPS-IH have problems with social functioning, attention and various competence areas, as rated by their parents.
Contributions of Authors
All authors made substantial contributions to the conception, design and interpretation of the data reported in this chapter. AL was mainly responsible for the acquisition of data, analysis and drafting of the chapter. All authors contributed substantially to the revision of the chapter for intellectual content and all authors provided their final approval of the version to be published.
Dougal Hare acts as guarantor for the chapter, accepts full responsibility for the work and/or the conduct of the study, had access to the data and controlled the decision to publish.
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The authors have no competing interests to declare.
Funding
This review is unfunded as it forms a part of the first author’s Clinical Psychology doctorate degree.
Ethical Approval
This study was approved by the North West Greater Manchester Central Research Ethics Committee (15/NW/00/77).
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Lehtonen, A., Rust, S., Jones, S., Brown, R., Hare, D. (2017). Social Functioning and Behaviour in Mucopolysaccharidosis IH [Hurlers Syndrome]. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 39. JIMD Reports, vol 39. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2017_47
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DOI: https://doi.org/10.1007/8904_2017_47
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