Motor improvement in children with PMM2-CDG syndrome following a six-month rehabilitation treatment utilising whole-body vibration; a retrospective study.

IF 1.7 4区医学 Q4 NEUROSCIENCES

Journal of musculoskeletal & neuronal interactions Pub Date : 2024-03-01

Christiane Bossier, Christina Stark, Kyriakos Martakis, Ibrahim Duran, Eckhard Schoenau

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引用次数: 0

Abstract

Objective: The aim of this study was to assess the effect of a six-month interval rehabilitation treatment on motor function of children with PMM2-CDG syndrome (#212065 Congenital disorder of glycosylation, Type Ia; CDG1A, OMIM catalogue number).

Methods: The concept 'Auf die Beine' (Center for Prevention and Rehabilitation of the University of Cologne, Germany) combines two short inpatient stays (1 to 2 weeks) with a six-month whole-body vibration (WBV) home-training program. 13 patients with PMM2-CDG syndrome participated in this concept from 2006 until 2015. Assessments at start, six months and 12 months (follow-up): Gross Motor Function Measure (GMFM-66), One-Minute Walk Test (1MWT) and instrumented gait analyses.

Results: The GMFM-66 (9 of 13 children) improved by 5.3 (mean) points (SD 3.2) at 12 months (p=0.0039). The 1MWT (6 of 13 children) improved by 19.17 meter (SD 16.51) after 12 months (p=0.0313). Gait analysis (9 of 13 children) measured by pathlength/distance ratio improved by -0.8 (SD 1.9) at 12 months (p=0.0195).

Conclusion: Patients with PMM2-CDG syndrome benefit from the interval rehabilitation program 'Auf die Beine' including WBV.

本刊更多论文

利用全身振动进行为期六个月的康复治疗后，PMM2-CDG 综合征患儿的运动能力得到改善；一项回顾性研究。

研究目的本研究旨在评估间隔六个月的康复治疗对 PMM2-CDG 综合征（#212065 先天性糖基化紊乱，Ia 型；CDG1A，OMIM 目录编号）患儿运动功能的影响：Auf die Beine"（德国科隆大学预防与康复中心）的理念是将两次短期住院治疗（1 至 2 周）与为期 6 个月的全身振动（WBV）家庭训练计划相结合。从 2006 年到 2015 年，13 名 PMM2-CDG 综合征患者参与了这一概念。在开始、6 个月和 12 个月（随访）时进行评估：粗大运动功能测量（GMFM-66）、一分钟步行测试（1MWT）和仪器步态分析：GMFM-66（13 名儿童中的 9 名）在 12 个月时提高了 5.3（平均）分（标准差 3.2）（p=0.0039）。1MWT（13 名儿童中的 6 名）在 12 个月后提高了 19.17 米（标准差为 16.51）（p=0.0313）。步态分析（13名儿童中的9名）的路径长度/距离比在12个月后改善了-0.8（标准差为1.9）（p=0.0195）：结论：PMM2-CDG综合征患者可从包括WBV在内的间歇康复项目 "Auf die Beine "中获益。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of musculoskeletal & neuronal interactions NEUROSCIENCES-PHYSIOLOGY

CiteScore

3.40

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： The Journal of Musculoskeletal and Neuronal Interactions (JMNI) is an academic journal dealing with the pathophysiology and treatment of musculoskeletal disorders. It is published quarterly (months of issue March, June, September, December). Its purpose is to publish original, peer-reviewed papers of research and clinical experience in all areas of the musculoskeletal system and its interactions with the nervous system, especially metabolic bone diseases, with particular emphasis on osteoporosis. Additionally, JMNI publishes the Abstracts from the biannual meetings of the International Society of Musculoskeletal and Neuronal Interactions, and hosts Abstracts of other meetings on topics related to the aims and scope of JMNI.