Department of Communication Sciences & Disorders, The University of Utah, Salt Lake City, Utah 84112-0252, USA.
J Voice. 2010 Jul;24(4):470-6. doi: 10.1016/j.jvoice.2008.10.010. Epub 2009 Aug 6.
This case study examined case histories, diagnostic features, and treatment response in two 79-year-old male monozygotic (identical) twins with vocal fold bowing, exploring both genetic and environmental factors. DNA concordance was examined via cheek swab. Case histories, videostroboscopy, auditory- and visual-perceptual assessment, electromyography, acoustic measures, and Voice Handicap ratings were undertaken. Both twins underwent surgical intervention and subsequent voice therapy. Monozygosity was confirmed for DNA polymorphisms, with 10 of 10 concordance for STR DNA markers. For both twins, auditory- and visual-perceptual assessments indicated severe bowing, hoarseness, and breathiness, although Twin 1 was judged to be extremely severe. Differences in reference to root-mean-square amplitudes were observed for thyroarytenoid and lateral cricoarytenoid muscles, with smaller relative amplitudes observed for the Twin 1 versus Twin 2. No consistent voice improvement was observed after surgical intervention(s), despite improved mid-membranous vocal fold closure. Marked reductions in Voice Handicap Index total scores were observed after behavioral voice therapy, coinciding with increased mid-membranous and posterior laryngeal (interarytenoid) glottal closure. No substantive differences in acoustic measures were observed. Vocal fold bowing was more severe for Twin 1 versus Twin 2 despite identical heritability factors. Overall voice improvement with treatment was greater for Twin 2 than Twin 1. Environmental factors might partially account for the differences observed between the twins, including variability in their responsiveness to behavioral voice therapy. Voice therapy was useful in improving mid-membranous and posterior laryngeal closure, although dysphonia remained severe in both cases.
本案例研究通过颊拭子检查了 DNA 一致性,探讨了两名 79 岁男性同卵(完全相同)双胞胎的声带内收病例史、诊断特征和治疗反应,以探索遗传和环境因素。病例史、频闪喉镜检查、听觉和视觉感知评估、肌电图、声学测量和嗓音障碍评分均在研究中进行。两名双胞胎均接受了手术干预和随后的嗓音治疗。DNA 多态性证实了同卵性,10 个 STR DNA 标记中有 10 个一致。对于这对双胞胎来说,听觉和视觉感知评估都表明存在严重的内收、嘶哑和气息声,尽管双胞胎 1 被认为是极重度的。对于甲状软骨肌和外侧环杓软骨肌的均方根振幅,观察到双胞胎 1 与双胞胎 2 之间存在差异,双胞胎 1 的相对振幅较小。尽管中膜声带闭合有所改善,但手术干预后并未观察到一致的声音改善。行为嗓音治疗后,嗓音障碍指数总分明显降低,同时中膜和后喉(杓间)声门闭合增加。声学测量未观察到实质性差异。尽管双胞胎 1 与双胞胎 2 的遗传因素相同,但双胞胎 1 的声带内收比双胞胎 2 更严重。尽管如此,与双胞胎 1 相比,双胞胎 2 的整体嗓音治疗改善更大。环境因素可能部分解释了双胞胎之间观察到的差异,包括他们对行为嗓音治疗的反应性存在差异。嗓音治疗在改善中膜和后喉闭合方面非常有效,尽管在两种情况下,发声障碍仍然严重。