Constantinides Constantinos, Landis Sarah H, Jarrett James, Quinn Jennifer, Ireland Penelope J
BioMarin Europe Ltd., London, UK.
Children's Health Queensland Hospital & Health Service, Brisbane, Australia.
Disabil Rehabil. 2022 Oct;44(21):6166-6178. doi: 10.1080/09638288.2021.1963853. Epub 2021 Aug 17.
Achondroplasia (ACH) is the most common form of skeletal dysplasia, resulting in disproportionate short stature and medical complications. We review the literature on physical functioning, psychosocial function, and quality of life (QoL) in ACH individuals compared to average stature individuals or other short stature conditions. Studies that assess the association between these outcomes and height, limb length/lengthening surgery in ACH patients are also summarized.
PubMed/MEDLINE and Embase were searched through April 2021. Study inclusion criteria were: (1) quantitative design; (2) study population consisting solely/mainly of ACH patients; (3) reports of physical functioning, psychosocial functioning, and/or QoL. Included studies were summarized separately for pediatric and adult populations.
Of 1664 records identified, 23 primary studies (sample size 8-437 participants) were included. Multiple tools were used across studies, including the generic PedsQL and SF-36 and height-specific QoLISSY.
The literature demonstrates that ACH patients experience limitations in physical functioning and poorer QoL outcomes compared to average stature people across the life span. This appeared to be at least in part due to disproportionate short stature. Future research to better characterize QoL in ACH patients will assist clinicians to better evaluate the effectiveness of management programs including novel interventions.IMPLICATIONS FOR REHABILITATIONPatients with achondroplasia experience limitations in physical functioning and poorer quality of life throughout their life course when compared to average statured individuals.Psychosocial issues are also heightened in adults with achondroplasia compared to average statured peers but are observed less frequently in children and adolescents with achondroplasia.The overall impact that limb lengthening has on physical functioning and QoL remains unclear, although there is some evidence that greater height or upper limb length may lead to an improvement in these parameters.Rehabilitation professionals should regularly assess physical functioning, psychosocial wellbeing, and quality of life in individuals with achondroplasia using condition-specific tools.
软骨发育不全（ACH）是最常见的骨骼发育异常形式，会导致身材比例失调矮小以及医学并发症。我们回顾了关于ACH患者与正常身高个体或其他矮小情况相比，其身体功能、心理社会功能和生活质量（QoL）的文献。还总结了评估这些结果与ACH患者身高、肢体长度/肢体延长手术之间关联的研究。
检索截至2021年4月的PubMed/MEDLINE和Embase数据库。研究纳入标准为：（1）定量设计；（2）研究人群仅主要由ACH患者组成；（3）身体功能、心理社会功能和/或生活质量的报告。纳入的研究分别针对儿童和成人人群进行总结。
在识别出的1664条记录中，纳入了23项主要研究（样本量为8 - 437名参与者）。各研究使用了多种工具，包括通用的儿童生活质量量表（PedsQL）、36项简明健康状况调查量表（SF - 36）以及特定身高的生活质量量表（QoLISSY）。
文献表明，与正常身高人群相比，ACH患者在整个生命周期中身体功能存在限制，生活质量较差。这似乎至少部分是由于身材比例失调矮小所致。未来旨在更好地描述ACH患者生活质量的研究将有助于临床医生更好地评估包括新干预措施在内的管理项目的有效性。
对康复的启示
与正常身高个体相比，软骨发育不全患者在其生命过程中身体功能存在限制，生活质量较差。
与正常身高的同龄人相比，软骨发育不全的成年人心理社会问题也更为突出，但在软骨发育不全的儿童和青少年中较少见。
尽管有一些证据表明身高增加或上肢长度增加可能会改善这些参数，但肢体延长对身体功能和生活质量的总体影响仍不明确。
康复专业人员应使用特定疾病工具定期评估软骨发育不全患者的身体功能、心理社会福祉和生活质量。
