Rasing Nathaniël B, van de Geest-Buit Willianne A, Chan On Ying A, Mul Karlien, Lanser Anke, van Engelen Baziel G M, Erasmus Corrie E, Fischer Agneta H, Ingels Koen J A O, Post Bart, Siemann Ietske, Groothuis Jan T, Voermans Nicol C
Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Information Specialist, Medical Library, Radboud University, Nijmegen, The Netherlands.
J Neuromuscul Dis. 2024;11(3):535-565. doi: 10.3233/JND-230213.
Facial weakness is a key feature of facioscapulohumeral muscular dystrophy (FSHD) and may lead to altered facial expression and subsequent psychosocial impairment. There is no cure and supportive treatments focus on optimizing physical fitness and compensation of functional disabilities.
We hypothesize that symptomatic treatment options and psychosocial interventions for other neurological diseases with altered facial expression could be applicable to FSHD. Therefore, the aim of this review is to collect symptomatic treatment approaches that target facial muscle function and psychosocial interventions in various neurological diseases with altered facial expression in order to discuss the applicability to FSHD.
A systematic search was performed. Selected studies had to include FSHD, Bell's palsy, Moebius syndrome, myotonic dystrophy type 1, or Parkinson's disease and treatment options which target altered facial expression. Data was extracted for study and patients' characteristics, outcome assessment tools, treatment, outcome of facial expression and or psychosocial functioning.
Forty studies met the inclusion criteria, of which only three studies included FSHD patients exclusively. Most, twenty-one, studies were performed in patients with Bell's palsy. Studies included twelve different therapy categories and results were assessed with different outcomes measures.
Five therapy categories were considered applicable to FSHD: training of (non-verbal) communication compensation strategies, speech training, physical therapy, conference attendance, and smile restoration surgery. Further research is needed to establish the effect of these therapies in FSHD. We recommend to include outcome measures in these studies that cover at least cosmetic, functional, communication, and quality of life domains.
面部无力是面肩肱型肌营养不良（FSHD）的关键特征，可能导致面部表情改变及随后的心理社会障碍。目前尚无治愈方法，支持性治疗主要侧重于优化身体素质和代偿功能残疾。
我们假设针对面部表情改变的其他神经疾病的对症治疗方案和心理社会干预措施可应用于FSHD。因此，本综述的目的是收集针对面部肌肉功能的对症治疗方法以及各种面部表情改变的神经疾病中的心理社会干预措施，以讨论其对FSHD的适用性。
进行了系统检索。入选研究必须包括FSHD、贝尔麻痹、莫比乌斯综合征、1型强直性肌营养不良或帕金森病以及针对面部表情改变的治疗方案。提取了有关研究和患者特征、结局评估工具、治疗、面部表情结局和/或心理社会功能的数据。
40项研究符合纳入标准，其中仅有3项研究仅纳入了FSHD患者。大多数研究（21项）是在贝尔麻痹患者中进行的。研究包括12种不同的治疗类别，结果采用不同的结局指标进行评估。
有五类治疗方法被认为适用于FSHD：（非言语）沟通补偿策略训练、言语训练、物理治疗、参加会议以及微笑修复手术。需要进一步研究以确定这些疗法在FSHD中的效果。我们建议在这些研究中纳入至少涵盖美容、功能、沟通和生活质量领域的结局指标。
