Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/62355
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Type: Journal article
Title: Developmental milestones in infants and young Australasian children with achondroplasia
Author: Ireland, P.
Johnson, S.
Donaghey, S.
Johnston, L.
McGill, J.
Zankl, A.
Ware, R.
Pacey, V.
Ault, J.
Savarirayan, R.
Sillence, D.
Thompson, E.
Townshend, S.
Citation: Journal of Developmental and Behavioral Pediatrics, 2010; 31(1):41-47
Publisher: Lippincott Williams & Wilkins
Issue Date: 2010
ISSN: 0196-206X
1536-7312
Statement of
Responsibility: 
Penelope Jane Ireland, Sarah Johnson, Samantha Donaghey, Leanne Johnston, James McGill, Andreas Zankl, Robert S. Ware, Verity Pacey, Jenny Ault, Ravi Savarirayan, David Sillence, Elizabeth Thompson and Sharron Townshend
Abstract: Background: Achondroplasia, the most common form of chondrodysplasia (inherited skeletal dysplasia), is characterized by a significant delay in the development of communication and motor skills, particularly during the first 2 years. Although some information regarding timing of development for children with achondroplasia is available, no study has evaluated simultaneously the pattern of skill development across multiple key developmental areas. Method: This study used a retrospective questionnaire to quantify developmental data on milestone achievement. Twenty families of children with achondroplasia throughout Australia and New Zealand were asked to document age of acquisition for 41 gross motor, fine motor, and communication and feeding milestones. More than one half of the items assessed were milestones identified in the Australian State Government Personal Health Record Books. The results are compared with previously available information regarding development of motor skills by a cohort of American children with achondroplasia. Results: Although the results support previously reported delays in gross motor and communication skill development, fine motor development does not seem to be as delayed as previously suggested. Information on development of self-feeding skills is presented for the first time and occurs later in this group than the typically developing population. We describe 2 distinctive and previously unreported methods of transitioning between static positions commonly used by children with achondroplasia. Conclusion: Delays were reported across gross motor and communication and feeding skills but were not observed during development of fine motor skills. Additional information is also offered regarding a variety of unusual movement strategies demonstrated by young children with achondroplasia.
Keywords: Achondroplasia
skill development
Australia
skeletal dysplasia
developmental milestones
Rights: © 2010 Lippincott Williams & Wilkins, Inc.
DOI: 10.1097/DBP.0b013e3181c72052
Appears in Collections:Aurora harvest 5
Paediatrics publications

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