Gaudin-Drouelle Delphine, Houx Laetitia, Lempereur Mathieu, Brochard Sylvain, Pons Christelle
LaTim UMR 1101, Team Beachild, INSERM, 29200 Brest, France.
Department of Pediatric Rehabilitation, Brest University Hospital, 29200 Brest, France.
Children (Basel). 2022 May 13;9(5):719. doi: 10.3390/children9050719.
Angelman syndrome is a genetic neurobehavioral syndrome characterized by motor and cognitive developmental delay, with a severe reduction in activity and participation. Treatments are limited and the effects of rehabilitation have not been studied. We report on the progress made by a 7-year-old boy with Angelman syndrome following an innovative synergic intervention involving translingual neurostimulation (TLNS) and goal-oriented rehabilitation to improve gait. The parents were interviewed regarding the child's abilities and participation level and three-dimensional gait analysis was performed before and after the 4-week intervention (five days per week, 4 h per day) and 6 months later. Spatiotemporal and kinematic gait variables improved considerably at 4 weeks, with a reduction in lower limb agonist-antagonist co-contractions, and a large increase in walking distance (from 500 m to 2 km). The child's engagement and ability to perform activities of daily living improved, as well as several functions not targeted by the intervention. Six months after cessation of the intervention, improvements were partially sustained. The rapid and considerable improvement in motor ability was likely due to potentiation of the rehabilitation by the TLNS. Further studies are required to understand the mechanisms underlying this effect and to determine if it is generalizable to other children with similar disorders.
天使综合征是一种遗传性神经行为综合征,其特征为运动和认知发育迟缓,活动和参与度严重降低。治疗方法有限,且尚未对康复效果进行研究。我们报告了一名7岁天使综合征男孩在接受一项创新的协同干预后的进展情况,该干预包括跨语言神经刺激(TLNS)和以改善步态为目标的康复训练。我们就孩子的能力和参与水平对其父母进行了访谈,并在为期4周的干预(每周五天,每天4小时)前后以及6个月后进行了三维步态分析。在4周时,时空和运动学步态变量有了显著改善,下肢主动肌-拮抗肌共同收缩减少,步行距离大幅增加(从500米增至2千米)。孩子参与日常生活活动的能力以及干预未针对的几项功能都有所改善。干预停止6个月后,改善情况部分得以维持。运动能力的快速显著改善可能归因于TLNS对康复的增强作用。需要进一步研究以了解这种效应的潜在机制,并确定其是否适用于其他患有类似疾病的儿童。