Neurological and Psychiatric Comorbidities Patients With FSHD 1 and 2
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 6
- 试验地点
- 2
- 主要终点
- Hamilton Depression Rating Scale
研究概览
简要总结
The investigators propose to conduct a comparative pilot cognitive and psychiatric profiles of 10 patients Facio-Scapulo-Humeral Dystrophy (= FHSD) type 1 and 10 patients with type 2 FSHD study. For this, the investigators relied on observational components: FSHD2 patients appear more often present with psychiatric comorbidities and seem to have lower cognitive performance compared to FSHD1 patients. This was confirmed by a preliminary study on a small sample population of patients. It seems to exist mainly executive dysfunction associated with attention disorders in patients FSHD2. Moreover, their performance in IQ tests would be low in relation to their socio-educational and compared with patients FSHD1 level.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Basic Science
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 75 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •age ≥ 18 years and <75 years
- •FSHD patients 1 or 2 with genetic confirmation
排除标准
- •Phosphokinase creatine level > 5 time of the normal
- •Patient as medical history :
- •A history or active neurological disease likely to interfere with the interpretation of results
- •a history of head trauma
- •an infectious disease, hormonal, inflammatory or some deficiency may induce cognitive and / or psychiatric troubles
- •Patient with cons-indication for performing a brain MRI
- •Pregnant, parturient and lactating (producing a serum pregnancy test)
结局指标
主要结局
Hamilton Depression Rating Scale
时间窗: One time at the inclusion
Hamilton Anxiety Rating Scale
时间窗: One time at the inclusion
Quality of Life Enjoyment and Satisfaction Questionnaire - Short Form
时间窗: One time at the inclusion
Wechsler Adult Intelligence Scale
时间窗: One time at the inclusion
Montgomery and Asberg Depression Rating Scale
时间窗: One time at the inclusion
Quick inventory of depressive symptomatology Self report
时间窗: One time at the inclusion
Mini Mental Status Evaluation
时间窗: One time at the inclusion
次要结局
未报告次要终点