Sjögreen Lotta, Mårtensson Åsa, Ekström Anne-Berit
Mun-H-Center Orofacial Resource Centre for Rare Diseases, Public Dental Service, Gothenburg, Sweden.
The Queen Silvia Children's Hospital/Regional Pediatric Rehabilitation Centre, Gothenburg, Sweden.
Int J Lang Commun Disord. 2018 May;53(3):576-583. doi: 10.1111/1460-6984.12370. Epub 2018 Jan 12.
Myotonic dystrophy type 1 (DM1) is a slowly progressive multi-systemic disease with an autosomal-dominant inheritance caused by a mutation on chromosome 19 (19q13.3).
To explore speech characteristics in a group of individuals with the congenital and childhood-onset forms of DM1 in terms of intelligibility, speech-sound production, nasality and compensatory articulation. A further aim was to analyse whether speech characteristics were correlated to subforms of DM1 and if speech outcome could be related to muscle strength.
METHODS & PROCEDURES: Fifty native Swedish speakers (7-29 years old) with the congenital and childhood-onset forms of DM1 and 13 healthy controls participated in the study. The intelligibility of spontaneous speech, speech-sound production - single-word and sentence repetition - including percentage consonants correct (PCC) and compensatory articulation, were evaluated by speech-language pathologists from video recordings. A nasometer and lip-force meter were used for objective evaluations of nasality and orofacial strength.
OUTCOMES & RESULTS: In severe (n = 9) and mild congenital DM1 (n = 13), all participants had impaired intelligibility to some degree, while this applied to 79% of those with childhood DM1 (n = 28). PCC for bilabials were 53.9% in severe congenital DM1, 57.4% in mild congenital DM1 and 85.3% in childhood DM1; the corresponding results for dentals were 69.3%, 59.2% and 87.3%. Bilabials were most often compensated for with interdental or labiodental articulation. Dentals were substituted with interdental articulation. Velars were seldom affected. The mean nasalance score was high in the study group compared with controls and with normative data and the majority had weak lips. Maximum lip force, as well as the mean nasalance score, correlated significantly with the intelligibility score.
CONCLUSIONS & IMPLICATIONS: The deviant production of bilabial consonants, interdental articulation and hypernasal speech are characteristic features of dysarthria in congenital and childhood DM1. Dysarthria is more frequent and more severe in congenital DM1 compared with childhood DM1. Most individuals with congenital DM1 and childhood-onset DM1 will need speech therapy from a young age. For some children with incomprehensible speech or severe neurodevelopmental disorders, alternative and augmentative ways of communication will be part of the treatment.
1型强直性肌营养不良症（DM1）是一种常染色体显性遗传的缓慢进展性多系统疾病，由19号染色体（19q13.3）上的突变引起。
探讨先天性和儿童期发病型DM1患者在可懂度、语音产生、鼻音和代偿性发音方面的言语特征。另一个目的是分析言语特征是否与DM1的亚型相关，以及言语结果是否与肌肉力量有关。
50名以瑞典语为母语、患有先天性和儿童期发病型DM1的患者（7至29岁）以及13名健康对照者参与了该研究。言语语言病理学家通过视频记录对自发言语的可懂度、语音产生（单字和句子重复），包括辅音正确率（PCC）和代偿性发音进行了评估。使用鼻音计和唇力计对鼻音和口面部力量进行客观评估。
在重度（n = 9）和轻度先天性DM1患者（n = 13）中，所有参与者在某种程度上都存在可懂度受损的情况，而在儿童期DM1患者（n = 28）中，这一比例为79%。重度先天性DM1患者双唇音的PCC为53.9%，轻度先天性DM1患者为57.4%，儿童期DM1患者为85.3%；齿音的相应结果分别为69.3%、59.2%和87.3%。双唇音最常通过齿间或唇齿音发音进行代偿。齿音被齿间发音替代。软腭音很少受到影响。与对照组和标准数据相比，研究组的平均鼻音评分较高，且大多数患者唇部力量较弱。最大唇力以及平均鼻音评分与可懂度评分显著相关。
双唇辅音发音异常、齿间发音和高鼻音是先天性和儿童期DM1构音障碍的特征性表现。与儿童期DM1相比，先天性DM1的构音障碍更频繁、更严重。大多数先天性DM1和儿童期发病型DM1患者从小就需要言语治疗。对于一些言语难以理解或患有严重神经发育障碍的儿童，替代性和辅助性沟通方式将成为治疗的一部分。
