Queensland Paediatric Rehabilitation Service, Royal Children's Hospital, Brisbane, Queensland, Australia.
J Dev Behav Pediatr. 2010 Jan;31(1):41-7. doi: 10.1097/DBP.0b013e3181c72052.
Achondroplasia, the most common form of chondrodysplasia (inherited skeletal dysplasia), is characterized by a significant delay in the development of communication and motor skills, particularly during the first 2 years. Although some information regarding timing of development for children with achondroplasia is available, no study has evaluated simultaneously the pattern of skill development across multiple key developmental areas.
This study used a retrospective questionnaire to quantify developmental data on milestone achievement. Twenty families of children with achondroplasia throughout Australia and New Zealand were asked to document age of acquisition for 41 gross motor, fine motor, and communication and feeding milestones. More than one half of the items assessed were milestones identified in the Australian State Government Personal Health Record Books. The results are compared with previously available information regarding development of motor skills by a cohort of American children with achondroplasia.
Although the results support previously reported delays in gross motor and communication skill development, fine motor development does not seem to be as delayed as previously suggested. Information on development of self-feeding skills is presented for the first time and occurs later in this group than the typically developing population. We describe 2 distinctive and previously unreported methods of transitioning between static positions commonly used by children with achondroplasia.
Delays were reported across gross motor and communication and feeding skills but were not observed during development of fine motor skills. Additional information is also offered regarding a variety of unusual movement strategies demonstrated by young children with achondroplasia.
软骨发育不全症（最常见的软骨发育不全遗传骨骼疾病）的特征是沟通和运动技能的发育明显延迟，特别是在前 2 年。尽管有一些关于软骨发育不全症患儿发育时间的信息，但尚无研究同时评估多个关键发育领域的技能发展模式。
本研究使用回顾性问卷调查来量化里程碑式成就的发育数据。澳大利亚和新西兰的 20 个软骨发育不全症患儿家庭被要求记录 41 项粗大运动、精细运动、沟通和喂养里程碑的获得年龄。评估的一半以上项目是澳大利亚州政府个人健康记录簿中确定的里程碑。结果与先前报道的美国软骨发育不全症患儿运动技能发育信息进行了比较。
虽然结果支持先前报道的粗大运动和沟通技能发育延迟，但精细运动发育似乎不像先前建议的那样延迟。首次提供了自我喂养技能发育的信息，且该组的发育时间晚于典型发育人群。我们描述了 2 种独特的、以前未报道的用于转换儿童常用静态姿势的方法。
报告显示粗大运动和沟通与喂养技能存在延迟，但精细运动发育未观察到延迟。还提供了有关软骨发育不全症儿童表现出的各种不寻常运动策略的其他信息。
