Department of Neuro-Physiotherapy, Ravi Nair Physiotherapy College, Datta Meghe Institute of Medical Sciences, Sawangi, Meghe, Wardha, Maharashtra, India.
Department of Physiotherapy, AKG Hospital, Perlassery, Kerala, India.
Pan Afr Med J. 2021 Oct 8;40:85. doi: 10.11604/pamj.2021.40.85.31240. eCollection 2021.
Rubinstein-Taybi syndrome (RSTS) is a chromosomal segment 16p13.3 microdeletion syndrome and is characterized by CREBBP gene mutations, delay in the development of height and weight, distinctive facial features, broad and sometimes angulated thumbs and halluces, short stature, and intellectual impairment that is mild to extreme. Current literature emphasizes mainly medical, dental, and psychiatric issues in RSTS and there is no retrievable literature on physiotherapy and its role in improving motor function in RSTS. The present case report is of a baby girl of 17 months suspected case of RSTS, presented with all the features of RSTS. Delay in the acquisition of skills and development were the chief complaints. We designed a 12-week treatment regimen that concentrated mainly on transitions using principles of neurodevelopmental therapy. Gross motor function measure (GMFM 88) was taken pre- and post-treatment which showed tremendous improvement. This is the first study on the role of physiotherapy in RSTS.
鲁宾斯坦-泰比综合征（RSTS）是一种染色体 16p13.3 微缺失综合征，其特征是 CREBBP 基因突变、身高和体重发育迟缓、特征性面部特征、宽而有时呈角状的拇指和大脚趾、身材矮小和智力障碍，从轻度到重度不等。目前的文献主要强调 RSTS 的医学、牙科和精神问题，而关于物理治疗及其在改善 RSTS 运动功能中的作用的文献则无法检索。本病例报告是一名 17 个月大的疑似 RSTS 女婴，表现出所有 RSTS 的特征。技能获得和发育迟缓是主要的投诉。我们设计了一个为期 12 周的治疗方案，主要集中在使用神经发育治疗原则的过渡上。治疗前后均进行粗大运动功能测量（GMFM 88），结果显示有显著改善。这是第一项关于物理治疗在 RSTS 中的作用的研究。
