Functional performance in young Australian children with achondroplasia

Penelope Jane Ireland, James Mcgill, Andreas Zankl, Robert S. Ware, Verity Pacey, Jenny Ault, Ravi Savarirayan, David Sillence, Elizabeth M. Thompson, Sharron Townshend, Leanne Marie Johnston

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Abstract

Aim The aim of this study was to determine population-specific developmental milestones for independence in self-care, mobility, and social cognitive skills in children with achondroplasia, the most common skeletal dysplasia. Methods Population-based recruitment from October 2008 to October 2010 identified 44 Australian children with achondroplasia aged 3 to 7years. Consenting parents of 35 children (16 males, 19 females 14 aged 3y; 12 aged 5y; nine aged 7y) reported their child's self-care, mobility, and social cognition function using the Functional Independence Measure for Children (WeeFIM-II) at the ages of 3 (n=14), 5 (n=12), or 7 (n=9) years. Children were excluded from the study if they had an additional neurological or musculoskeletal condition. Results Functioning improved in children with achondroplasia between the ages of 3 and 5years, but not subsequently. Milestones in the achondroplasia group were delayed across all ages and domains compared with normative reference data. Children with achondroplasia required greater caregiver assistance for self-care and mobility skills than typically developing children based on normative data. Social cognition appeared to be an area of relative strength. Interpretation Children up to 7years of age with achondroplasia show delayed milestone acquisition and a greater need for caregiver assistance for all domains. As functional delays are likely to be related to common musculoskeletal impairments associated with achondroplasia, access to physiotherapists, occupational therapists, and speech and language pathologists skilled in achondroplasia management may assist children and families to become more independent, particularly around the time of starting school.

LanguageEnglish
Pages944-950
Number of pages7
JournalDevelopmental Medicine and Child Neurology
Volume53
Issue number10
DOIs
Publication statusPublished - Oct 2011
Externally publishedYes

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Achondroplasia
Self Care
Cognition
Caregivers
Social Mobility
Physical Therapists
Child Care
Population
Language
Parents

Cite this

Ireland, Penelope Jane ; Mcgill, James ; Zankl, Andreas ; Ware, Robert S. ; Pacey, Verity ; Ault, Jenny ; Savarirayan, Ravi ; Sillence, David ; Thompson, Elizabeth M. ; Townshend, Sharron ; Johnston, Leanne Marie. / Functional performance in young Australian children with achondroplasia. In: Developmental Medicine and Child Neurology. 2011 ; Vol. 53, No. 10. pp. 944-950.
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abstract = "Aim The aim of this study was to determine population-specific developmental milestones for independence in self-care, mobility, and social cognitive skills in children with achondroplasia, the most common skeletal dysplasia. Methods Population-based recruitment from October 2008 to October 2010 identified 44 Australian children with achondroplasia aged 3 to 7years. Consenting parents of 35 children (16 males, 19 females 14 aged 3y; 12 aged 5y; nine aged 7y) reported their child's self-care, mobility, and social cognition function using the Functional Independence Measure for Children (WeeFIM-II) at the ages of 3 (n=14), 5 (n=12), or 7 (n=9) years. Children were excluded from the study if they had an additional neurological or musculoskeletal condition. Results Functioning improved in children with achondroplasia between the ages of 3 and 5years, but not subsequently. Milestones in the achondroplasia group were delayed across all ages and domains compared with normative reference data. Children with achondroplasia required greater caregiver assistance for self-care and mobility skills than typically developing children based on normative data. Social cognition appeared to be an area of relative strength. Interpretation Children up to 7years of age with achondroplasia show delayed milestone acquisition and a greater need for caregiver assistance for all domains. As functional delays are likely to be related to common musculoskeletal impairments associated with achondroplasia, access to physiotherapists, occupational therapists, and speech and language pathologists skilled in achondroplasia management may assist children and families to become more independent, particularly around the time of starting school.",
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Ireland, PJ, Mcgill, J, Zankl, A, Ware, RS, Pacey, V, Ault, J, Savarirayan, R, Sillence, D, Thompson, EM, Townshend, S & Johnston, LM 2011, 'Functional performance in young Australian children with achondroplasia', Developmental Medicine and Child Neurology, vol. 53, no. 10, pp. 944-950. https://doi.org/10.1111/j.1469-8749.2011.04050.x

Functional performance in young Australian children with achondroplasia. / Ireland, Penelope Jane; Mcgill, James; Zankl, Andreas; Ware, Robert S.; Pacey, Verity; Ault, Jenny; Savarirayan, Ravi; Sillence, David; Thompson, Elizabeth M.; Townshend, Sharron; Johnston, Leanne Marie.

In: Developmental Medicine and Child Neurology, Vol. 53, No. 10, 10.2011, p. 944-950.

Research output: Contribution to journalArticleResearchpeer-review

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AU - Zankl, Andreas

AU - Ware, Robert S.

AU - Pacey, Verity

AU - Ault, Jenny

AU - Savarirayan, Ravi

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