葡萄糖转运蛋白1缺乏综合征（GLUT1DS）的言语和语言表型特征
Characterization of Speech and Language Phenotype in GLUT1DS.
作者信息
Zanaboni Martina Paola, Pasca Ludovica, Villa Barbara Valeria, Faggio Antonella, Grumi Serena, Provenzi Livio, Varesio Costanza, De Giorgis Valentina
机构信息
Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, 27100 Pavia, Italy.
Department of Brain and Behaviour Neuroscience, University of Pavia, 27100 Pavia, Italy.
出版信息
Children (Basel). 2021 Apr 27;8(5):344. doi: 10.3390/children8050344.
BACKGROUND
To analyze the oral motor, speech and language phenotype in a sample of pediatric patients with GLUT 1 transporter deficiency syndrome (GLUT1DS).
METHODS
eight Italian-speaking children with GLUT1DS (aged 4.6-15.4 years) in stable treatment with ketogenic diet from a variable time underwent a specific and standardized speech and language assessment battery.
RESULTS
All patients showed deficits with different degrees of impairment in multiple speech and language areas. In particular, orofacial praxis, parallel and total movements were the most impaired in the oromotor domain; in the speech domain patients obtained a poor performance in the diadochokinesis rate and in the repetition of words that resulted as severely deficient in seven out of eight patients; in the language domain the most affected abilities were semantic/phonological fluency and receptive grammar.
CONCLUSIONS
GLUT1DS is associated to different levels of speech and language impairment, which should guide diagnostic and therapeutic intervention. Larger population data are needed to identify more precisely a speech and language profile in GLUT1DS patients.
背景
分析一组患有葡萄糖转运蛋白1缺乏综合征（GLUT1DS）的儿科患者的口腔运动、言语和语言表型。
方法
八名讲意大利语、患有GLUT1DS的儿童（年龄4.6 - 15.4岁），采用生酮饮食进行不同时长的稳定治疗，接受了特定的标准化言语和语言评估。
结果
所有患者在多个言语和语言领域均表现出不同程度损伤的缺陷。具体而言，口面部运用、平行运动和整体运动在口腔运动领域受损最为严重；在言语领域，患者在快速交替运动速率和单词重复方面表现不佳，八名患者中有七名严重不足；在语言领域，受影响最大的能力是语义/语音流畅性和接受性语法。
结论
GLUT1DS与不同程度的言语和语言损伤相关，这应指导诊断和治疗干预。需要更多的人群数据来更精确地确定GLUT1DS患者的言语和语言特征。
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