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Optimal management of complications associated with achondroplasia

Penny J Ireland1, Verity Pacey2, Andreas Zankl3

  • 1Queensland Paediatric Rehabilitation Service, Royal Children's Hospital, Herston, Brisbane, Queensland, Australia.

The Application of Clinical Genetics
|July 24, 2014
PubMed

Insights

Achondroplasia, a common skeletal dysplasia causing short stature, presents complex health issues managed by multidisciplinary teams. Understanding its impact on daily life requires a broad framework, like the ICF model, for better support.

Area of Science:

  • Medical Genetics
  • Orthopedics
  • Rehabilitation Medicine

Background:

  • Achondroplasia is the most prevalent skeletal dysplasia, affecting over 250,000 individuals globally.
  • It leads to disproportionate short stature and numerous anatomical features impacting growth and development.
  • Management necessitates a multidisciplinary team approach due to complex medical issues.

Purpose of the Study:

  • To examine medical and health aspects of achondroplasia using existing literature.
  • To present a pictorial model of achondroplasia based on the International Classification of Functioning, Disability, and Health (ICF).
  • To review impairments and complications across the lifespan and their impact on activity and participation.

Main Methods:

  • Literature review of medical and health aspects of achondroplasia.
  • Application of an expanded International Classification of Functioning, Disability, and Health (ICF) model.
  • Analysis of musculoskeletal, neurological, cardiorespiratory, and ENT impairments and their effects.

Main Results:

  • Individuals with achondroplasia experience impairments affecting multiple areas of activity and participation.
  • The ICF model provides a framework for understanding the multifaceted experience of achondroplasia.
  • Current literature highlights various lifelong health challenges associated with the condition.

Conclusions:

  • A comprehensive understanding of achondroplasia requires a broad framework considering individual impairments and their impact on life activities.
  • Further research is needed to identify factors influencing participation and develop targeted strategies.
  • The ICF model offers a valuable structure for organizing and understanding the complexities of achondroplasia.

Keywords:
ICF modelachondroplasiacomplicationsmanagement

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