Advertisement

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)

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.

Keywords

Behaviour Behavioural phenotype Genetic disorder Intellectual disability Mucopolysaccharidosis IH Social functioning 

References

  1. Abidin RR (1995) Parenting Stress Index, short form, 3rd edn. Psychological Assessment Resource, OdessaGoogle Scholar
  2. Achenbach TM, Rescorla LA (2001) Manual for the ASEBA school-age forms & profiles. University of Vermont, Research Center for Children, Youth, & Families, BurlingtonGoogle Scholar
  3. Aldenhoven M, Wynn RF, Orchard PJ et al (2015) Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study. Blood 125:2164–2172CrossRefPubMedGoogle Scholar
  4. Arn P, Bruce IA, Wraith JE, Travers H, Fallet S (2015) Airway-related symptoms and surgeries in patients with Mucopolysaccharidosis I. Ann Otol Rhinol Laryngol 124:198–205CrossRefPubMedPubMedCentralGoogle Scholar
  5. Bax MC, Colville GA (1995) Behaviour in mucopolysaccharide disorders. Arch Dis Child 73:77–81CrossRefPubMedPubMedCentralGoogle Scholar
  6. Bjoraker KJ, Delaney K, Peters C, Krivit W, Shapiro EG (2006) Long-term outcomes of adaptive functions for children with mucopolysaccharidosis I (Hurler syndrome) treated with hematopoietic stem cell transplantation. J Dev Behav Pediatr 27:290–296CrossRefPubMedGoogle Scholar
  7. Colletti CJ, Wolfe-Christensen C, Carpentier MY et al (2008) The relationship of parental overprotection, perceived vulnerability, and parenting stress to behavioral, emotional, and social adjustment in children with cancer. Pediatr Blood Cancer 51:269–274CrossRefPubMedGoogle Scholar
  8. Constantino J (2012) The social responsiveness scale, 2nd edn. Western Psychological Services, Los AngelesGoogle Scholar
  9. Constantino JN, Todd RD (2003) Autistic traits in the general population: a twin study. Arch Gen Psychiatry 60:524–530CrossRefPubMedGoogle Scholar
  10. Cousino MK, Hazen RA (2013) Parenting stress among caregivers of children with chronic illness: a systematic review. J Pediatr Psychol 38:809–828CrossRefPubMedGoogle Scholar
  11. D’Aco K, Underhill L, Rangachari L et al (2012) Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry. Eur J Pediatr 171:911–919CrossRefPubMedPubMedCentralGoogle Scholar
  12. Driscoll KA, Johnson SB, Barker D et al (2010) Risk factors associated with depressive symptoms in caregivers of children with type 1 diabetes or cystic fibrosis. J Pediatr Psychol 35:814–822CrossRefPubMedPubMedCentralGoogle Scholar
  13. Dykens EM (2007) Psychiatric and behavioral disorders in persons with Down syndrome. Ment Retard Dev Disabil Res Rev 13:272–278CrossRefPubMedGoogle Scholar
  14. Eisengart JB, Rudser KD, Tolar J et al (2013) Enzyme replacement is associated with better cognitive outcomes after transplant in Hurler syndrome. J Pediatr 162:375–380.e1CrossRefPubMedGoogle Scholar
  15. Garg S, Lehtonen A, Huson SM et al (2013) Autism and other psychiatric comorbidity in neurofibromatosis type 1: evidence from a population-based study. Dev Med Child Neurol 55:139–145CrossRefPubMedGoogle Scholar
  16. Krivit WJ, Henslee-Downey J, Cowan M et al (1995) Survival in Hurler’s disease following bone marrow transplantation in 84 patients. Bone Marrow Transplant 15:S182–S185Google Scholar
  17. Lepage J-F, Dunkin B, Hong DS, Reiss AL (2013) Impact of cognitive profile on social functioning in prepubescent females with Turner syndrome. Child Neuropsychol 19:161–172CrossRefPubMedGoogle Scholar
  18. Mahon LV, Lomax M, Grant S et al (2014) Assessment of sleep in children with mucopolysaccharidosis type III. PLoS One 9:e84128CrossRefPubMedPubMedCentralGoogle Scholar
  19. Mazefsky CA, Anderson R, Conner CM, Minshew N (2011) Child behavior checklist scores for school-aged children with autism: preliminary evidence of patterns suggesting the need for referral. J Psychopathol Behav Assess 33:31–37CrossRefPubMedPubMedCentralGoogle Scholar
  20. Moore D, Connock MJ, Wraith E, Lavery C (2008) The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK. Orphanet J Rare Dis 3:24CrossRefPubMedPubMedCentralGoogle Scholar
  21. Moss J, Howlin P (2009) Autism spectrum disorders in genetic syndromes: implications for diagnosis, intervention and understanding the wider autism spectrum disorder population. J Intellect Disabil Res 53:852–873CrossRefPubMedGoogle Scholar
  22. Owens JA, Spirito A, McGuinn M (2000) The Children’s Sleep Habits Questionnaire (CSHQ): psychometric properties of a survey instrument for school-aged children. Sleep 23:1043–1051CrossRefPubMedGoogle Scholar
  23. Pitt C, Lavery C, Wager N (2009) Psychosocial outcomes of bone marrow transplant for individuals affected by Mucopolysaccharidosis I Hurler Disease: patient social competency. Child Care Health Dev 35:271–280CrossRefPubMedGoogle Scholar
  24. Plasschaert E, Descheemaeker MJ, Van Eylen L, Noens I, Steyaert J, Legius E (2015) Prevalence of autism spectrum disorder symptoms in children with neurofibromatosis type 1. Am J Med Genet B Neuropsychiatr Genet 168B:72–80CrossRefPubMedGoogle Scholar
  25. Quine L (1991) Sleep problems in children with mental handicap. J Ment Defic Res 35(Pt 4):269–290PubMedGoogle Scholar
  26. Quine L (1992) Severity of sleep problems in children with severe learning difficulties: description and correlates. J Community Appl Soc Psychol 2:247–268CrossRefGoogle Scholar
  27. Shapiro E, Evren Guler O, Rudser K, Delaney K, Bjoraker K, Whitley C, Tolar J (2012) An exploratory study of brain function and structure in mucopolysaccharidosis type I: long term observations following hematopoietic cell transplantation (HCT). Mol Genet Metab 107:116–121CrossRefPubMedPubMedCentralGoogle Scholar
  28. Shapiro EG, Nestrasil I, Rudser K et al (2015) Neurocognition across the spectrum of mucopolysaccharidosis type I: age, severity, and treatment. Mol Genet Metab 116:61–68CrossRefPubMedPubMedCentralGoogle Scholar
  29. Wiggs L, Stores G (2001) Behavioural treatment for sleep problems in children with severe intellectual disabilities and daytime challenging behaviour: effect on mothers and fathers. Br J Health Psychol 6:257–269CrossRefPubMedGoogle Scholar

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

Personalised recommendations