title: Functional performance in young Australian children with achondroplasia.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: School of Health and Rehabilitation Sciences, The University of Queensland, Brisbane, Queensland, Australia. penny_ireland@health.qld.gov.au
authors.forename: Penelope Jane
authors.initials: PJ
authors.lastname: Ireland
authors.forename: James
authors.initials: J
authors.lastname: McGill
authors.forename: Andreas
authors.initials: A
authors.lastname: Zankl
authors.forename: Robert S
authors.initials: RS
authors.lastname: Ware
authors.forename: Verity
authors.initials: V
authors.lastname: Pacey
authors.forename: Jenny
authors.initials: J
authors.lastname: Ault
authors.forename: Ravi
authors.initials: R
authors.lastname: Savarirayan
authors.forename: David
authors.initials: D
authors.lastname: Sillence
authors.forename: Elizabeth M
authors.initials: EM
authors.lastname: Thompson
authors.forename: Sharron
authors.initials: S
authors.lastname: Townshend
authors.forename: Leanne Marie
authors.initials: LM
authors.lastname: Johnston
mesh_terms: D000130:Achondroplasia / Q000453:epidemiology* / Q000503:physiopathology* / Q000523:psychology; D000203:Activities of Daily Living; D000367:Age Factors; D001315:Australia / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D003072:Cognition Disorders / Q000453:epidemiology / Q000209:etiology; D015331:Cohort Studies; D018672:Community Health Planning; D003430:Cross-Sectional Studies; D002658:Developmental Disabilities / Q000453:epidemiology* / Q000503:physiopathology* / Q000523:psychology; D004185:Disability Evaluation; D005260:Female; D006801:Humans; D008297:Male; D010290:Parents / Q000523:psychology; D012919:Social Behavior