Medical management of children with achondroplasia: evaluation of an Australasian cohort aged 0-5 years

Ireland, Penelope J., Johnson, Sarah, Donaghey, Samantha, Johnston, Leanne, Ware, Robert S., Zankl, Andreas, Pacey, Verity, Ault, Jenny, Savarirayan, Ravi, Sillence, David, Thompson, Elizabeth, Townshend, Sharron and McGill, James (2012) Medical management of children with achondroplasia: evaluation of an Australasian cohort aged 0-5 years. Journal of Paediatrics And Child Health, 48 5: 443-449. doi:10.1111/j.1440-1754.2011.02255.x

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Author Ireland, Penelope J.
Johnson, Sarah
Donaghey, Samantha
Johnston, Leanne
Ware, Robert S.
Zankl, Andreas
Pacey, Verity
Ault, Jenny
Savarirayan, Ravi
Sillence, David
Thompson, Elizabeth
Townshend, Sharron
McGill, James
Title Medical management of children with achondroplasia: evaluation of an Australasian cohort aged 0-5 years
Journal name Journal of Paediatrics And Child Health   Check publisher's open access policy
ISSN 1034-4810
Publication date 2012-05
Year available 2011
Sub-type Critical review of research, literature review, critical commentary
DOI 10.1111/j.1440-1754.2011.02255.x
Volume 48
Issue 5
Start page 443
End page 449
Total pages 7
Place of publication Oxford, United Kingdom
Publisher Wiley-Blackwell Publishing
Collection year 2012
Language eng
Formatted abstract
Achondroplasia is the most common form of osteochondrodysplasia and is associated with a number of life-threatening complications. The complexity of the condition led to the development of Heath Supervision Guidelines published by the American Academy of Pediatrics in 1995 and revised in 2005. There remains limited population-based information on utilisation of medical and therapy services for children with achondroplasia. Increased information regarding use of these services will assist in future service development.


Data regarding frequency and timing of medical and allied health consultations, investigations and interventions were collected from 53 Australasian families via questionnaire, based on recommendations of the Health Supervision Guidelines, an expert reference group and literature review.


Rates varied with age for medical consultations (geneticist, paediatric rehabilitation physician/paediatrician, respiratory physician, orthopaedic consultant, neurologist, neurosurgeon), medical investigations (sleep study, magnetic resonance imaging/computed tomography), operative procedures (brain-stem decompression, tonsillectomy/adenoidectomy, shunt insertion, shunt revision and insertion of grommets) and allied health consultations (physiotherapist, occupational therapist, speech pathologist, dietician and orthotist).


Access to geneticists and paediatricians within the first year is high as recommended by the 2005 American Academy of Pediatrics guidelines. Utilisation of craniocervical magnetic resonance imaging/computed tomography, polysomnography studies and formal speech review appears low, reflecting more emphasis on clinical monitoring for cervical cord compression and disordered sleep breathing as well as possible difficulties in accessing services for polysomnography and speech pathology. Grommet insertion, tonsillectomy/adenoidectomy and cervicomedullary decompression rates are similar to results reported previously. Over half of the children accessed physiotherapy and/or occupational therapy services, warranting consideration of these professionals in future guideline recommendations.
Keyword Achondroplasia
Allied health personnel
Medical practice
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ
Additional Notes Article first published online: 23 NOV 2011

Document type: Journal Article
Sub-type: Critical review of research, literature review, critical commentary
Collections: UQ Centre for Clinical Research Publications
Official 2012 Collection
School of Public Health Publications
School of Health and Rehabilitation Sciences Publications
School of Medicine Publications
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Citation counts: TR Web of Science Citation Count  Cited 4 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 5 times in Scopus Article | Citations
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Created: Thu, 13 Oct 2011, 16:43:17 EST by Dr Leanne Johnston on behalf of School of Health & Rehabilitation Sciences