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  1. Home
  3. Exploration Into Lived Experiences Of Multiple Sulfatase Deficiency-affected Individuals And Their Families.
  1. Home
  3. Exploration Into Lived Experiences Of Multiple Sulfatase Deficiency-affected Individuals And Their Families.

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Exploration Into Lived Experiences of Multiple Sulfatase Deficiency-Affected Individuals and Their Families.

Francesco Gavazzi1,2, Emily Yu1, Zarrin Tashnim1

  • 1Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Journal of Child Neurology
|May 14, 2025

View abstract on PubMed

Summary
This summary is machine-generated.

Caregiver perspectives reveal multiple sulfatase deficiency (MSD) severely impacts families. Despite functional deficits, children show preserved quality of life, while caregivers experience significant distress and burden.

Keywords:
aicardi goutieres syndromeimpact of diseasepediatricquality of life

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Area of Science:

  • Rare disease research
  • Pediatric neurodegenerative disorders
  • Caregiver-centered outcomes

Background:

  • Rare diseases, particularly ultrarare pediatric neurodegenerative disorders like multiple sulfatase deficiency (MSD), are understudied regarding their impact on patients and families.
  • Existing research often overlooks the specific challenges faced by families managing complex genetic conditions.

Purpose of the Study:

  • To capture and analyze caregiver perspectives on the effects of multiple sulfatase deficiency (MSD) on child adaptive behaviors and health-related quality of life (HRQoL).
  • To assess the impact of MSD on caregiver HRQoL and compare caregiver burden with a related rare disease, metachromatic leukodystrophy.

Main Methods:

  • Nineteen caregivers of children with MSD participated in assessments including the Vineland Adaptive Behavior Scale-Third Edition (VABS-3), Caregiver Priorities and Child Health Index of Life with Disabilities, and Pediatric Quality of Life Inventory (PedsQL) scales.
  • Caregiver HRQoL was evaluated using the PedsQL-family impact module and Traumatic Brain Injury Caregiver Quality of Life.
  • PedsQL-family impact module data were compared with a dataset from metachromatic leukodystrophy (n=30).

    • Main Results:

    • The VABS-3 indicated global functional impairments in children with MSD.
    • Despite functional limitations, children demonstrated relatively preserved HRQoL, particularly in emotional well-being, as measured by the Caregiver Priorities and Child Health Index of Life with Disabilities and PedsQL.
    • Caregivers reported severely impacted HRQoL, experiencing significant grief and entrapment, with a caregiver burden comparable to that in metachromatic leukodystrophy.

    Conclusions:

    • Caregiver insights are crucial for understanding the multifaceted impact of MSD on families.
    • The findings highlight the need for tailored psychosocial support and patient-centered outcome measures for rare pediatric neurodegenerative diseases.
    • Results will inform the development of outcome measures for rare disease families and endpoints for future MSD clinical trials.