Developmental milestones in infants and young Australasian children with achondroplasia

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, Sharron Townshend

Research output: Contribution to journalArticleResearchpeer-review

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.

LanguageEnglish
Pages41-47
Number of pages7
JournalJournal of Developmental and Behavioral Pediatrics
Volume31
Issue number1
DOIs
Publication statusPublished - Jan 2010
Externally publishedYes

Fingerprint

Achondroplasia
Motor Skills
Communication
Enchondromatosis
Personal Health Records
State Government
Child Development
New Zealand
Population

Cite this

Ireland, P. J., Johnson, S., Donaghey, S., Johnston, L., McGill, J., Zankl, A., ... Townshend, S. (2010). Developmental milestones in infants and young Australasian children with achondroplasia. Journal of Developmental and Behavioral Pediatrics, 31(1), 41-47. https://doi.org/10.1097/DBP.0b013e3181c72052
Ireland, Penelope Jane ; Johnson, Sarah ; Donaghey, Samantha ; Johnston, Leanne ; McGill, James ; Zankl, Andreas ; Ware, Robert S. ; Pacey, Verity ; Ault, Jenny ; Savarirayan, Ravi ; Sillence, David ; Thompson, Elizabeth ; Townshend, Sharron. / Developmental milestones in infants and young Australasian children with achondroplasia. In: Journal of Developmental and Behavioral Pediatrics. 2010 ; Vol. 31, No. 1. pp. 41-47.
@article{751ee7d735ad433ba5fa42b55d981c9e,
title = "Developmental milestones in infants and young Australasian children with achondroplasia",
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.",
author = "Ireland, {Penelope Jane} and Sarah Johnson and Samantha Donaghey and Leanne Johnston and James McGill and Andreas Zankl and Ware, {Robert S.} and Verity Pacey and Jenny Ault and Ravi Savarirayan and David Sillence and Elizabeth Thompson and Sharron Townshend",
year = "2010",
month = "1",
doi = "10.1097/DBP.0b013e3181c72052",
language = "English",
volume = "31",
pages = "41--47",
journal = "Journal of Developmental and Behavioral Pediatrics",
issn = "0196-206X",
publisher = "Lippincott Williams and Wilkins",
number = "1",

}

Ireland, PJ, Johnson, S, Donaghey, S, Johnston, L, McGill, J, Zankl, A, Ware, RS, Pacey, V, Ault, J, Savarirayan, R, Sillence, D, Thompson, E & Townshend, S 2010, 'Developmental milestones in infants and young Australasian children with achondroplasia', Journal of Developmental and Behavioral Pediatrics, vol. 31, no. 1, pp. 41-47. https://doi.org/10.1097/DBP.0b013e3181c72052

Developmental milestones in infants and young Australasian children with achondroplasia. / Ireland, Penelope Jane; Johnson, Sarah; Donaghey, Samantha; Johnston, Leanne; McGill, James; Zankl, Andreas; Ware, Robert S.; Pacey, Verity; Ault, Jenny; Savarirayan, Ravi; Sillence, David; Thompson, Elizabeth; Townshend, Sharron.

In: Journal of Developmental and Behavioral Pediatrics, Vol. 31, No. 1, 01.2010, p. 41-47.

Research output: Contribution to journalArticleResearchpeer-review

TY - JOUR

T1 - Developmental milestones in infants and young Australasian children with achondroplasia

AU - Ireland, Penelope Jane

AU - Johnson, Sarah

AU - Donaghey, Samantha

AU - Johnston, Leanne

AU - McGill, James

AU - Zankl, Andreas

AU - Ware, Robert S.

AU - Pacey, Verity

AU - Ault, Jenny

AU - Savarirayan, Ravi

AU - Sillence, David

AU - Thompson, Elizabeth

AU - Townshend, Sharron

PY - 2010/1

Y1 - 2010/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=76149145697&partnerID=8YFLogxK

U2 - 10.1097/DBP.0b013e3181c72052

DO - 10.1097/DBP.0b013e3181c72052

M3 - Article

VL - 31

SP - 41

EP - 47

JO - Journal of Developmental and Behavioral Pediatrics

T2 - Journal of Developmental and Behavioral Pediatrics

JF - Journal of Developmental and Behavioral Pediatrics

SN - 0196-206X

IS - 1

ER -