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Early presentation in the mucopolysaccharide disorders

G A Colville1, M A Bax

  • 1Department of Psychological Medicine, Hospital for Sick Children, London, UK.

Child: Care, Health and Development
|January 1, 1996
PubMed
Summary

Parental concerns varied for mucopolysaccharidosis subtypes. Delayed language and behavior issues alerted parents to Sanfilippo and Hunter syndromes, while appearance was key for Hurler and Morquio syndromes, often with delayed diagnoses.

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Area of Science:

  • Pediatric rare diseases
  • Genetic metabolic disorders
  • Patient and family perspectives

Background:

  • Mucopolysaccharidoses (MPS) are a group of rare genetic disorders.
  • Early recognition of MPS subtypes is crucial for timely intervention.
  • Parental awareness and initial concerns are key indicators for diagnosis.

Purpose of the Study:

  • To investigate parental awareness and initial concerns leading to diagnosis in children with four main MPS subtypes.
  • To identify differences in presenting symptoms and diagnostic delays across Hurler, Hunter, Sanfilippo, and Morquio syndromes.
  • To highlight the impact of delayed diagnosis on affected families.

Main Methods:

  • International questionnaire study involving 258 children with Hurler, Hunter, Sanfilippo, or Morquio syndrome.

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  • Data collected from parents or main carers regarding initial concerns and diagnostic timelines.
  • Analysis of presenting symptoms, including physical appearance, language development, and behavioral issues.

    • Main Results:

    • Parental concerns differed significantly by MPS subtype: appearance was primary for Hurler (45%) and Morquio (75%) syndromes.
    • Delayed/regressing language and behavioral problems alerted parents to Sanfilippo (56%) and Hunter (32%) syndromes.
    • A significant proportion of diagnoses were delayed by over two years from initial parental concerns.

    Conclusions:

    • Early identification of MPS requires recognizing subtype-specific parental concerns.
    • Addressing diagnostic delays is critical to improve outcomes for children with mucopolysaccharidoses.
    • Further research into improving early detection strategies for MPS is warranted.