Christiane Bossier, Christina Stark, Kyriakos Martakis, Ibrahim Duran, Eckhard Schoenau
{"title":"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。","authors":"Christiane Bossier, Christina Stark, Kyriakos Martakis, Ibrahim Duran, Eckhard Schoenau","doi":"","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>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).</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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).</p><p><strong>Conclusion: </strong>Patients with PMM2-CDG syndrome benefit from the interval rehabilitation program 'Auf die Beine' including WBV.</p>","PeriodicalId":16430,"journal":{"name":"Journal of musculoskeletal & neuronal interactions","volume":"24 1","pages":"12-21"},"PeriodicalIF":1.7000,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10910202/pdf/","citationCount":"0","resultStr":"{\"title\":\"Motor improvement in children with PMM2-CDG syndrome following a six-month rehabilitation treatment utilising whole-body vibration; a retrospective study.\",\"authors\":\"Christiane Bossier, Christina Stark, Kyriakos Martakis, Ibrahim Duran, Eckhard Schoenau\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>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).</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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).</p><p><strong>Conclusion: </strong>Patients with PMM2-CDG syndrome benefit from the interval rehabilitation program 'Auf die Beine' including WBV.</p>\",\"PeriodicalId\":16430,\"journal\":{\"name\":\"Journal of musculoskeletal & neuronal interactions\",\"volume\":\"24 1\",\"pages\":\"12-21\"},\"PeriodicalIF\":1.7000,\"publicationDate\":\"2024-03-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10910202/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of musculoskeletal & neuronal interactions\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"NEUROSCIENCES\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of musculoskeletal & neuronal interactions","FirstCategoryId":"3","ListUrlMain":"","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"NEUROSCIENCES","Score":null,"Total":0}
Motor improvement in children with PMM2-CDG syndrome following a six-month rehabilitation treatment utilising whole-body vibration; a retrospective study.
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.
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.
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