Functional and Structural Changes in Patients with Spinal Muscular Atrophy Treated in Poland during 12-Month Follow-Up: A Prospective Cohort Study

Author:

Bieniaszewska Aleksandra12ORCID,Sobieska Magdalena3ORCID,Gajewska Ewa1ORCID

Affiliation:

1. Department of Developmental Neurology, Poznan University of Medical Sciences, 60-355 Poznan, Poland

2. Doctoral School, Poznan University of Medical Sciences, 60-812 Poznan, Poland

3. Department of Rehabilitation and Physiotherapy, Poznan University of Medical Sciences, 61-545 Poznan, Poland

Abstract

Background: In recent years, rapid advances in diagnosis and treatment have been observed in spinal muscular atrophy (SMA) patients. The introduction of modern therapies and screening tests has significantly changed the clinical picture of the disease. The previous classification has, therefore, been replaced by new phenotypes: non-sitters, sitters, and walkers, defined by the patient’s functional level. However, despite the change in the clinical picture of the disease, patients still suffer from accompanying structural disorders such as scoliosis or joint contractures. Their presence also significantly affects the acquisition of subsequent motor skills. Due to this, monitoring structural changes and ensuring therapists are aware of improvements or declines in patient functionality are essential components of clinical practice. This study aims to compare the assessment of structural and functional changes after a 12-month follow-up in SMA patients who have already experienced the effects of the disease and are now receiving modern therapy. Methods: We present a study of 34 SMA patients being treated with modern therapies and tested twice 12 months apart. The participants were tested using structural measurements and validated scales such as The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) and Hammersmith Functional Motor Scale–Expanded (HFMSE). Results: During the 12-month follow-up, patients showed deteriorating, non-statistically significant structural changes. We also proved that patients showed a trend toward functional improvement. Analyzing the individual scale items, we distinguished which participants obtained the maximum score for a given parameter and no longer had an opportunity to improve during the second examination. Conclusions: Our study proved that most patients improved overall motor function. The examination of structural measurements should become a standard in the evaluation of SMA patients.

Publisher

MDPI AG

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3