PURPOSE: This study aimed to investigate whether height, weight, head circumference and/or relationships between these factors are associated with gross motor milestone acquisition in children with achondroplasia. METHOD: Population-based data regarding timing of major gross motor milestones up to 5 years were correlated with height, weight and head circumference at birth and 12 months in 48 children with achondroplasia born in Australia and New Zealand between 2000 and 2009. RESULTS: Although as a group children with achondroplasia showed delayed gross motor skill acquisition, within group differences in height, weight or head circumference did not appear to influence timing of gross motor skills before 5 years. The exception was lie to sit transitioning, which appears likely to occur earlier if the child is taller and heavier at 12 months, and later if the child has significant head-to-body disproportion. CONCLUSIONS: This is the first study to investigate the relationship between common musculoskeletal impairments associated with achondroplasia and timing of gross motor achievement. Identification of the musculoskeletal factors that exacerbate delays in transitioning from lying to sitting will assist clinicians to provide more proactive assessment, advice and intervention regarding motor skill acquisition for this population.
PURPOSE: This study aimed to investigate whether height, weight, head circumference and/or relationships between these factors are associated with gross motor milestone acquisition in children with achondroplasia. METHOD: Population-based data regarding timing of major gross motor milestones up to 5 years were correlated with height, weight and head circumference at birth and 12 months in 48 children with achondroplasia born in Australia and New Zealand between 2000 and 2009. RESULTS: Although as a group children with achondroplasia showed delayed gross motor skill acquisition, within group differences in height, weight or head circumference did not appear to influence timing of gross motor skills before 5 years. The exception was lie to sit transitioning, which appears likely to occur earlier if the child is taller and heavier at 12 months, and later if the child has significant head-to-body disproportion. CONCLUSIONS: This is the first study to investigate the relationship between common musculoskeletal impairments associated with achondroplasia and timing of gross motor achievement. Identification of the musculoskeletal factors that exacerbate delays in transitioning from lying to sitting will assist clinicians to provide more proactive assessment, advice and intervention regarding motor skill acquisition for this population.
Authors: Raphael Bernier; Kyle J Steinman; Beau Reilly; Arianne Stevens Wallace; Elliott H Sherr; Nicholas Pojman; Heather C Mefford; Jennifer Gerdts; Rachel Earl; Ellen Hanson; Robin P Goin-Kochel; Leandra Berry; Stephen Kanne; LeeAnne Green Snyder; Sarah Spence; Melissa B Ramocki; David W Evans; John E Spiro; Christa L Martin; David H Ledbetter; Wendy K Chung Journal: Genet Med Date: 2015-06-11 Impact factor: 8.822
Authors: Julie E Hoover-Fong; Kerry J Schulze; Adekemi Y Alade; Michael B Bober; Ethan Gough; S Shahrukh Hashmi; Jacqueline T Hecht; Janet M Legare; Mary Ellen Little; Peggy Modaff; Richard M Pauli; David F Rodriguez-Buritica; Maria E Serna; Cory Smid; Chengxin Liu; John McGready Journal: Orphanet J Rare Dis Date: 2021-12-23 Impact factor: 4.123