Social Functioning and Behaviour in Mucopolysaccharidosis IH [Hurlers Syndrome]

  • Annukka Lehtonen
  • Stewart Rust
  • Simon Jones
  • Richard Brown
  • Dougal Hare
Research Report
Part of the JIMD Reports book series (JIMD, volume 39)


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.


Behaviour Behavioural phenotype Genetic disorder Intellectual disability Mucopolysaccharidosis IH Social functioning 


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Copyright information

© Society for the Study of Inborn Errors of Metabolism (SSIEM) 2017

Authors and Affiliations

  • Annukka Lehtonen
    • 1
  • Stewart Rust
    • 2
  • Simon Jones
    • 3
  • Richard Brown
    • 1
  • Dougal Hare
    • 4
  1. 1.Division of Psychology and Mental Health, School of Health Sciences, Faculty of Biology, Medicine and HealthUniversity of ManchesterManchesterUK
  2. 2.Paediatric Psychosocial DepartmentRoyal Manchester Children’s HospitalManchesterUK
  3. 3.Willink Unit, Manchester Centre for Genomic MedicineSt Mary’s Hospital, Central Manchester University Hospitals NHS Foundation Trust (CMFT), University of ManchesterManchesterUK
  4. 4.Wales Autism Research Centre, School of PsychologyCardiff UniversityCardiffUK

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