回顾了 114 例多发性先天性关节挛缩症患儿的矫形干预措施和功能结局。

A review of the orthopedic interventions and functional outcomes among a cohort of 114 children with arthrogryposis multiplex congenita.

机构信息

Faculty of Medicine, McGill University, Montreal, QC, Canada.

Shriners Hospital for Children - Canada, Montreal, QC, Canada.

出版信息

J Pediatr Rehabil Med. 2020;13(3):263-271. doi: 10.3233/PRM-190657.

DOI:10.3233/PRM-190657

PMID:33104047

Abstract

PURPOSE

Arthrogryposis multiplex congenita (AMC) refers to a large heterogeneous group of conditions involving joint contractures in two or more different areas of the body. Contractures can lead to decreased range of motion and strength, and affect ambulation and autonomy. The aim of this study was to describe the orthopedic interventions and functional outcomes of a large cohort of children with AMC followed in a pediatric orthopedic center.

METHODS

A retrospective chart review of all children diagnosed with AMC followed at Shriners Hospital for Children - Canada (SHC) between January 1979 and July 2016 was conducted. One hundred twenty patients were identified, of whom six were excluded due to misdiagnosis or insufficient chart information. One hundred fourteen were retained. Patient demographics, AMC classification, comorbidities, operative and non-operative treatments received as well as community ambulation status, level of autonomy in self-care and transfers at latest follow-up were recorded.

RESULTS

There were 54 males and 60 females with a mean age at last clinic visit of 10 years 3 months. Amyoplasia and distal arthrogryposis (DA) were equally represented in our sample, 47 (41.2%) and 49 (43.0%) participants respectively, with the category Other comprising the remaining 18 (15.8%) participants. Children with DA had less involvement of the proximal joints than those in the two other groups. Contractures and deformities of the foot and ankle were the most prevalent, affecting 91.5% with Amyoplasia, 85.7% with DA and 83.3% in the Other category. Contractures of the shoulder and elbow were more common among individuals with Amyoplasia and those categorized Other than those with DA. In terms of walking ability, 98% of participants with DA were independent ambulators. Walking ability varied among the Other participants. Similarly, most children with DA were independent in self-care and transfers at the most recent follow-up.

CONCLUSION

The relatively large sample size of this study allowed for a better insight into the challenges associated with AMC management. These findings demonstrated the need for genetic testing to provide accurate diagnosis and classification, along with the use of standardized outcome tools to measure effectiveness of interventions. As AMC is rare, multi-site prospective studies are needed to improve research opportunities, develop functional measures specific to AMC and disseminate findings on a wider scale.

摘要

目的

先天性多发性关节挛缩症（AMC）是指涉及身体两个或多个不同部位关节挛缩的一大组异质性疾病。挛缩可导致运动范围和力量减小，并影响行走和自理能力。本研究的目的是描述在小儿矫形中心接受治疗的一大群 AMC 患儿的矫形干预措施和功能结果。

方法

对 1979 年 1 月至 2016 年 7 月期间在 Shriners 儿童医院 - 加拿大（SHC）就诊的所有被诊断为 AMC 的患儿进行回顾性图表审查。共确定了 120 例患儿，其中 6 例因误诊或图表信息不足而被排除。共保留了 114 例。记录了患者的人口统计学资料、AMC 分类、合并症、接受的手术和非手术治疗以及社区步行状态、自理和转移的自理能力在最新随访时的水平。

结果

有 54 名男性和 60 名女性，最后一次就诊时的平均年龄为 10 岁 3 个月。我们的样本中肌萎缩症和远端关节挛缩症（DA）的比例相等，分别为 47（41.2%）和 49（43.0%），其余 18（15.8%）为其他类别。与其他两组相比，DA 患儿近端关节受累较少。足部和踝关节的挛缩和畸形最为常见，肌萎缩症受累 91.5%，DA 受累 85.7%，其他类别受累 83.3%。肩部和肘部的挛缩在肌萎缩症和其他类别患儿中更为常见，而非 DA 患儿。就行走能力而言，98%的 DA 患儿能够独立行走。其他类别的参与者的行走能力各不相同。同样，在最近的随访中，大多数 DA 患儿在自理和转移方面都能独立。