Optimal management of complications associated with achondroplasia

Penny J. Ireland, Verity Pacey, Andreas Zankl, Priya Edwards, Leanne M. Johnston, Ravi Savarirayan

    Research output: Contribution to journalReview articlepeer-review

    39 Citations (Scopus)
    265 Downloads (Pure)

    Abstract

    Achondroplasia is the most common form of skeletal dysplasia, resulting in disproportionate short stature, and affects over 250,000 people worldwide. Individuals with achondroplasia demonstrate a number of well-recognized anatomical features that impact on growth and development, with a complex array of medical issues that are best managed through a multidisciplinary team approach. The complexity of this presentation, whereby individual impairments may impact upon multiple activity and participation areas, requires consideration and discussion under a broad framework to gain a more thorough understanding of the experience of this condition for individuals with achondroplasia. This paper examines the general literature and research evidence on the medical and health aspects of individuals with achondroplasia and presents a pictorial model of achondroplasia based on The International Classification of Functioning, Disability, and Health (ICF). An expanded model of the ICF will be used to review and present the current literature pertaining to the musculoskeletal, neurological, cardiorespiratory, and ear, nose, and throat impairments and complications across the lifespan, with discussion on the impact of these impairments upon activity and participation performance. Further research is required to fully identify factors influencing participation and to help develop strategies to address these factors.

    Original languageEnglish
    Pages (from-to)117-125
    Number of pages9
    JournalApplication of Clinical Genetics
    Volume7
    DOIs
    Publication statusPublished - 24 Jun 2014

    Bibliographical note

    Copyright the Author(s) 2014. Version archived for private and non-commercial use with the permission of the author/s and according to publisher conditions. For further rights please contact the publisher.

    Keywords

    • achondroplasia
    • complications
    • management
    • ICF model

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