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Functional performance in young Australian children with achondroplasia
Author(s) -
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
Publication year - 2011
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/j.1469-8749.2011.04050.x
Subject(s) - achondroplasia , population , medicine , normative , pediatrics , physical therapy , cognition , psychology , psychiatry , philosophy , environmental health , epistemology
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 7 years. 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 5 years, 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 7 years 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.