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Psychosocial Challenges Facing Young People With Inherited Metabolic Disorders and Their Parents: A Systematic Review

Clara Sherlock1, Kim Clarke1, Norah Jordan1

  • 1National Centre for Inherited Metabolic Disorders, Children's Health Dublin Ireland.

JIMD Reports
|February 27, 2025
PubMed

Insights

Newborn screening reduces complications from inherited metabolic disorders, but families still face psychosocial challenges. Support services should address social isolation and care burdens for better outcomes.

Area of Science:

  • Medical Genetics
  • Pediatric Health
  • Psychosocial Medicine

Background:

  • Newborn screening advancements have decreased mortality from inherited metabolic disorders.
  • Despite medical progress, families of affected children experience significant psychosocial challenges.
  • Existing support systems may not adequately address the complex needs of these families.

Purpose of the Study:

  • To systematically review literature on psychosocial challenges in young people with metabolic conditions and their families.
  • To identify specific psychosocial difficulties impacting quality of life and family well-being.
  • To inform the development of targeted support services within metabolic care.

Main Methods:

  • Systematic literature search of MEDLINE, CINAHL, PsychInfo, and Psychology and Behavioural Sciences Collection databases.
  • Screening of 5,067 articles published over the last two decades for relevance.
  • Independent quality and reliability assessment of 29 included studies by two reviewers.

Main Results:

  • Young people with metabolic conditions and their families face diverse physical, social, psychological, and practical challenges.
  • Key difficulties identified include social isolation, significant burden of care, and emotional/learning difficulties.
  • The review highlights the pervasive impact of these conditions on family functioning and individual well-being.

Conclusions:

  • Peer support groups and psychoeducation are crucial for families managing inherited metabolic conditions.
  • Integrating psychology and social work into metabolic multidisciplinary teams (MDTs) is essential.
  • Enhanced psychosocial support is vital for improving the experiences and outcomes of affected families.

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