Neuropsychological Impairment and Quality of Life in Neurofibromatosis Type 1
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 286
- 试验地点
- 4
- 主要终点
- Quality of life as measured by the questionnaires used in children and adults
研究概览
简要总结
The main objective of the study is to investigate the determinants of the quality of life in children and adults with Neurofibromatosis type 1 (NF1) and more particularly the specific impact of neuropsychological deficits. In fact, cognitive impairment is currently considered as one of the most pervasive features of this genetic disorder but its relationship with the worsening of quality of life found in this population has not been directly investigated to date.
Secondary objectives of this study are (i) to compare neuropsychological and quality of life measures between patients and healthy controls matched by age, gender and education level, (ii) to contrast neuropsychological deficits incidence between patients and controls, and (iii) to differentiate NF1 children's self versus hetero-assessment of quality of life.
The main hypothesis of this study is that the neuropsychological impairment classically identified in this clinical population will be associated to the quality of life's worsening both in children and adults.
详细描述
The study cohort will consist of 150 patients with NF1 (100 adults and 50 children) recruited from the Neurofibromatosis Clinic at the University Hospital in Nantes and Créteil (France). A sample of 150 healthy controls (100 adults and 50 children) will also be recruited from sport and leisure clubs to serve as a normally developing control group.
The protocol assessment includes a standard and thorough neuropsychological examination specific to children and adults, to investigate the different aspects of cognitive domains: language, visuoperceptive and visuomotor abilities, memory, attention, executive function and intelligence skills. Quality of life is measured by a questionnaire specifically adapted to children and adults.
Other factors linked to the NF1 disease (familial or sporadic form, severity and visibility) and to demographic characteristics (sex, age, education level) will be taken into account to study their respective impact on quality of life, as compared with neuropsychological measures.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 盲法
- None
入排标准
- 年龄范围
- 8 Years 至 59 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- 未提供
排除标准
- •Uncorrectable hearing of visual impairment
- •History of psychiatric illness
- •Neuropsychological investigation in the last 6 months
- •Insufficient language usage
- •Any other known history of central nervous system pathology or neuropathological complications of NF1
结局指标
主要结局
Quality of life as measured by the questionnaires used in children and adults
时间窗: at day 0 for adults; at 4 weeks for children
Several domains in relation with quality of life (self perception, well-being, social life, emotions, etc.)
次要结局
- Scores obtained from neuropsychological tests (composite measure)(at day 0 and 2 weeks for adults; at day 0, 2 weeks and 4 weeks for children)