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Type: Journal article
Title: Medical management of children with achondroplasia: evaluation of an Australasian cohort aged 0-5 years
Author: Ireland, P.
Johnson, S.
Donaghey, S.
Johnston, L.
Ware, R.
Zankl, A.
Pacey, V.
Ault, J.
Savarirayan, R.
Sillence, D.
Thompson, E.
Townshend, S.
McGill, J.
Citation: Journal of Paediatrics and Child Health, 2012; 48(5):443-449
Publisher: Blackwell Publishing Asia
Issue Date: 2012
ISSN: 1034-4810
Statement of
Penelope J. Ireland, Sarah Johnson, Samantha Donaghey, Leanne Johnston, Robert S. Ware, Andreas Zankl, Verity Pacey, Jenny Ault, Ravi Savarirayan, David Sillence, Elizabeth Thompson, Sharron Townshend and James McGill
Abstract: AIMS: 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. METHODS: 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. RESULTS: 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). CONCLUSIONS: 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.
Keywords: Achondroplasia
allied health personnel
management, medical practice
Rights: © 2011 The Authors. Journal of Paediatrics and Child Health © 2011 Paediatrics and Child Health Division (Royal Australasian College of Physicians).
DOI: 10.1111/j.1440-1754.2011.02255
Appears in Collections:Aurora harvest 5
Paediatrics publications

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