Callus Edward, Bertoldo Enrico G, Beretta Maria, Boveri Sara, Cardani Rosanna, Fossati Barbara, Brigonzi Elisa, Meola Giovanni
Clinical Psychology Service, IRCCS Policlinico San Donato, San Donato Milanese, Italy.
Scientific Directorate, IRCCS Policlinico San Donato, San Donato Milanese, Italy.
Front Neurol. 2018 Sep 19;9:751. doi: 10.3389/fneur.2018.00751. eCollection 2018.
Myotonic Dystrophy Type 1 (DM1) is an autosomal dominant genetic illness, characterized by a progressive loss of strength. Important deficits in cognitive functioning and a significant prevalence of psychiatric disorders have been previously reported. A neuropsychological and psychological assessment was carried out in 31 DM1 patients (61% males) in order to measure the cognitive functioning and explore their personality profiles. The MMSE Mini-Mental State Examination, Frontal Assessment Battery (FAB), ENB-2 Battery assessing memory (short term, long term and working memory), integration capacities, visual-spatial ability, attention (selective, divided, shifting/switching) executive functions, praxis, discrimination and logic capabilities and psychopathology Symptom Check List 90-R (SCL-90-R) were administered. The neuropsychological and psychological evaluation of DM1 patients was carried out taking into consideration the clinical parameters (CTG repeat, age at onset, disease duration, Muscular Impairment Rate Scale (MIRS), Medical Research Council Scale (MRC) and the Epworth Sleepiness Scales (EPS)). Regarding psychopathology 19.4% of patients scored a moderate or high level of symptoms intensity index (GSI), 12.9% reported a high number of symptoms (PST) and 16.1% reported a high intensity level of the perceived symptoms (PSDI). Fatigue and daytime sleepiness resulted as being associated with higher levels of psychoticism (PSY). Only 1 patient reported a severe impairment in the spatial and temporal orientation, memory, language, praxis, attention and calculation. Longer disease duration was also associated with cognitive impairment evaluated through ENB-2 ( < 0.05). There are indications of the utility of neuropsychological and psychological screening and support for these patients and their families due to the link between disease duration and cognitive performances. A proposal of a clinical protocol, with an illustration of a clinical case report of a family is presented.
1型强直性肌营养不良症（DM1）是一种常染色体显性遗传病，其特征为进行性肌无力。此前已有报道称，患者存在认知功能的重要缺陷以及精神障碍的高患病率。对31例DM1患者（61%为男性）进行了神经心理学和心理学评估，以测量其认知功能并探究其人格特征。使用了简易精神状态检查表（MMSE）、额叶评估量表（FAB）、用于评估记忆（短期、长期和工作记忆）、整合能力、视觉空间能力、注意力（选择性、分散性、转移/切换）、执行功能、实践能力、辨别和逻辑能力的ENB - 2量表以及精神病理学症状自评量表90 - R（SCL - 90 - R）。对DM1患者的神经心理学和心理学评估是在考虑临床参数（CTG重复序列、发病年龄、病程、肌肉损伤率量表（MIRS）、医学研究委员会量表（MRC）和爱泼华嗜睡量表（EPS））的情况下进行的。关于精神病理学，19.4%的患者症状强度指数（GSI）得分处于中度或高水平，12.9%的患者报告有大量症状（PST），16.1%的患者报告有高强度的感知症状（PSDI）。疲劳和日间嗜睡与更高水平的精神质（PSY）相关。只有1例患者在空间和时间定向、记忆、语言、实践能力、注意力和计算方面存在严重损害。病程较长也与通过ENB - 2评估的认知障碍相关（<0.05）。鉴于病程与认知表现之间的联系，有迹象表明对这些患者及其家属进行神经心理学和心理学筛查及支持是有用的。本文提出了一项临床方案，并举例说明了一个家庭的临床病例报告。
