Orofacial myofunctional evaluation in individuals with neurofibromatosis type 1

PURPOSE: to describe and characterize alterations in orofacial function in individuals with neurofibromatosis type 1 and to correlate these changes with the clinical manifestations of neurofibromatosis type 1 and muscular strength. METHODS: the study included 24 individuals with neurofibromatosis type 1, 12 men and 12 women, aged 14-50 years, matched by sex and age with volunteers not affected by the disease. All subjects were evaluated for maximal handgrip force and, using the MBGR protocol, for orofacial motricity. RESULTS: individuals with neurofibromatosis type 1 had a higher prevalence of abnormal phono-articulatory patterns and significant differences (p < 0.05) relative to controls in body posture, speech organs, mobility, muscle tone, pain on palpation, and stomatognathic functions. Moreover, MBGR test score totals showed significant (p < 0.05) Spearman's correlation coefficients with maximal handgrip force. CONCLUSION: patients with neurofibromatosis type 1 had a relatively high prevalence of phono-articulatory changes and significant impacts on the functions of breathing, chewing, swallowing, and speaking. These alterations were correlated with a disease-related reduction of systemic muscular strength.

研究目的：描述并表征1型神经纤维瘤病（neurofibromatosis type 1）患者的口面功能异常情况，并明确此类异常与1型神经纤维瘤病临床表现及肌肉力量的相关性。
研究方法：本研究纳入24名1型神经纤维瘤病患者，其中男性12例、女性12例，年龄介于14至50岁，同时选取性别与年龄相匹配的健康志愿者作为对照。所有受试者均接受最大握力评估，并采用MBGR方案开展口面部运动功能测评。
研究结果：1型神经纤维瘤病患者的异常语音发音模式患病率更高，且在身体姿态、言语器官状态、活动度、肌张力、触诊疼痛及口颌功能等方面，与健康对照组相比存在显著统计学差异（p < 0.05）。此外，MBGR测试总分与最大握力的斯皮尔曼（Spearman）相关系数具有统计学显著性（p < 0.05）。
研究结论：1型神经纤维瘤病患者的语音发音改变患病率相对较高，且对呼吸、咀嚼、吞咽及言语功能造成显著不良影响。上述功能异常与疾病相关的全身性肌肉力量下降存在显著相关性。