Optimal management of complications associated with achondroplasia

Ireland, Penny J., Pacey, Verity, Zankl, Andreas, Edwards, Priya, Johnston, Leanne M. and Savarirayan, Ravi (2014) Optimal management of complications associated with achondroplasia. Application of Clinical Genetics, 7 117-125. doi:10.2147/TACG.S51485

Author Ireland, Penny J.
Pacey, Verity
Zankl, Andreas
Edwards, Priya
Johnston, Leanne M.
Savarirayan, Ravi
Title Optimal management of complications associated with achondroplasia
Journal name Application of Clinical Genetics   Check publisher's open access policy
ISSN 1178-704X
Publication date 2014-06-24
Sub-type Critical review of research, literature review, critical commentary
DOI 10.2147/TACG.S51485
Open Access Status DOI
Volume 7
Start page 117
End page 125
Total pages 9
Place of publication Macclesfield, United Kingdom
Publisher Dove Medical Press
Collection year 2015
Language eng
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.
Keyword Achondroplasia
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Critical review of research, literature review, critical commentary
Collections: Official 2015 Collection
School of Health and Rehabilitation Sciences Publications
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