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Cognitive and behaviour profiles of children with mucopolysaccharidosis Type II

Louise Crowe1,2,3, Joy Yaplito-Lee4, Vicki Anderson1,2,3

  • 1a Clinical Sciences , Murdoch Children's Research Institute, Royal Children's Hospital , Melbourne , VIC , Australia.

Cognitive Neuropsychology
|December 7, 2017
PubMed

Insights

Mucopolysaccharidosis Type II (MPS II), or Hunter Syndrome, is a rare genetic disorder. Enzyme replacement therapy (ERT) may improve memory but does not resolve attention and executive function deficits in mild cases.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Mucopolysaccharidosis Type II (MPS II), or Hunter Syndrome, is a rare X-linked lysosomal storage disease.
  • It results from deficient glycosaminoglycan breakdown, leading to progressive physical symptoms.
  • Cognitive profiles in mild MPS II, especially concerning enzyme replacement therapy (ERT), are not well-established.

Observation:

  • This study assessed cognitive, fine motor, and behavioral functions in three males with mild MPS II before and after ERT.
  • Participants' ages ranged from 7 years and 6 months to 12 years and 1 month.
  • Assessments included standardized cognitive tests, fine motor evaluations, and behavioral observations.

Findings:

  • While overall cognition, fine motor skills, and behavior were generally within the normal range, specific deficits in attention and executive functions were noted.
  • Following ERT initiation, improvements in certain memory aspects were observed.
  • However, executive function deficits persisted, and processing speed showed a decline over the study period.

Implications:

  • ERT appears to stabilize physical symptoms in MPS II but its impact on cognition requires further investigation.
  • The findings suggest that while ERT may offer some cognitive benefits, specific attention and executive function challenges may persist.
  • Longitudinal studies are needed to fully understand the long-term cognitive effects of ERT in MPS II patients.
Keywords:
ChildrenHunter syndromecognitionmucopolysaccharidosis Type II

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