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.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Similar content being viewed by others
References
Abidin RR (1995) Parenting Stress Index, short form, 3rd edn. Psychological Assessment Resource, Odessa
Achenbach TM, Rescorla LA (2001) Manual for the ASEBA school-age forms & profiles. University of Vermont, Research Center for Children, Youth, & Families, Burlington
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 125:2164–2172
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 124:198–205
Bax MC, Colville GA (1995) Behaviour in mucopolysaccharide disorders. Arch Dis Child 73:77–81
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 27:290–296
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 51:269–274
Constantino J (2012) The social responsiveness scale, 2nd edn. Western Psychological Services, Los Angeles
Constantino JN, Todd RD (2003) Autistic traits in the general population: a twin study. Arch Gen Psychiatry 60:524–530
Cousino MK, Hazen RA (2013) Parenting stress among caregivers of children with chronic illness: a systematic review. J Pediatr Psychol 38:809–828
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 171:911–919
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 35:814–822
Dykens EM (2007) Psychiatric and behavioral disorders in persons with Down syndrome. Ment Retard Dev Disabil Res Rev 13:272–278
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.e1
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 55:139–145
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–S185
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 19:161–172
Mahon LV, Lomax M, Grant S et al (2014) Assessment of sleep in children with mucopolysaccharidosis type III. PLoS One 9:e84128
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 33:31–37
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 3:24
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 53:852–873
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 23:1043–1051
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 35:271–280
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:72–80
Quine L (1991) Sleep problems in children with mental handicap. J Ment Defic Res 35(Pt 4):269–290
Quine L (1992) Severity of sleep problems in children with severe learning difficulties: description and correlates. J Community Appl Soc Psychol 2:247–268
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 107:116–121
Shapiro EG, Nestrasil I, Rudser K et al (2015) Neurocognition across the spectrum of mucopolysaccharidosis type I: age, severity, and treatment. Mol Genet Metab 116:61–68
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 6:257–269
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Additional information
Communicated by: Olaf Bodamer, MD PhD
Appendices
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.
Competing Interests
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).
Rights and permissions
Copyright information
© 2017 Society for the Study of Inborn Errors of Metabolism (SSIEM)
About this chapter
Cite this chapter
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
Download citation
DOI: https://doi.org/10.1007/8904_2017_47
Received:
Revised:
Accepted:
Published:
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-662-57576-5
Online ISBN: 978-3-662-57577-2
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)