School of Health and Rehabilitation Sciences, The University of Queensland, Brisbane, Queensland, Australia.
Dev Med Child Neurol. 2011 Oct;53(10):944-50. doi: 10.1111/j.1469-8749.2011.04050.x. Epub 2011 Aug 12.
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.
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.
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.
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.
本研究旨在确定软骨发育不全患儿（最常见的骨骼发育不良）在自理、运动和社会认知技能方面独立性的特定人群发育里程碑。
2008 年 10 月至 2010 年 10 月，通过基于人群的招募，确定了 44 名年龄在 3 至 7 岁的澳大利亚软骨发育不全儿童。35 名儿童的家长（16 名男性，19 名女性；14 名 3 岁；12 名 5 岁；9 名 7 岁）同意在儿童自理、移动和社会认知功能使用儿童功能独立性评定量表（WeeFIM-II）进行自我报告。儿童在 3 岁（n=14）、5 岁（n=12）或 7 岁（n=9）时进行评估。如果儿童有其他神经或肌肉骨骼疾病，则将其排除在研究之外。
与正常参考数据相比，软骨发育不全儿童在 3 至 5 岁之间的功能得到改善，但此后并未改善。在所有年龄段和领域中，软骨发育不全组的里程碑都延迟了。与正常发育儿童相比，根据正常数据，患有软骨发育不全的儿童在自理和移动技能方面需要更多的照顾者协助。社会认知似乎是一个相对优势的领域。
年龄在 7 岁以下的软骨发育不全儿童在所有领域的里程碑获取都存在延迟，并且需要照顾者更多的协助。由于功能延迟可能与软骨发育不全相关的常见肌肉骨骼损伤有关，因此获得擅长管理软骨发育不全的物理治疗师、职业治疗师和言语治疗师可能会帮助儿童和家庭变得更加独立，尤其是在开始上学的时候。
