Standardized Evaluation of Long-term Neurocognitive Development of Children From Age 3 With Pyridoxine Dependent Epilepsy by Antiquitine Deficiency
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 30
- 试验地点
- 23
- 主要终点
- Vineland II Adaptive Behaviour scales (VABS) total mean score and subscale mean scores
研究概览
简要总结
This study aims to evaluate with the VINELAND II scale the long-term neurocognitive development of children above age 3 years with pyridoxine dependent epilepsy related to antiquitine deficiency.
详细描述
Pyridoxine dependent epilepsy related to antiquitine deficiency is a rare and severe genetic epilepsy that usually starts within the first month of life. The treatment is based on high dose of Vitamin B6 (Pyridoxine) which is usually highly effective to control the seizures. However, most patients show impaired neurodevelopment.
Ten years ago, international recommendations have changed and a lysine restricted diet was added as an adjunct therapy with the hope to improve neurodevelopment.
Very few studies have evaluated the cognitive development of these patients in a standardized way, and these studies evaluate very few patients.
It seems therefore essential to study in a standardized way the neurocognitive development of these patients in order to evaluate the impact of the care.
The VINELAND adaptative behaviour scale II has been chosen because it can evaluate a patient whatever the age or the intellectual abilities through a semi-structured questionnaire completed with the parents, and gives a wide view of the neurocognitive development and everyday life autonomy of the patients.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 3 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Age above 3 years old
- •Pyridoxine dependent epilepsy genetic diagnosis (mutation in ALDH7A1 gene)
- •No objection of the patient or his legal representatives.
排除标准
- •Poor understanding of French language.
结局指标
主要结局
Vineland II Adaptive Behaviour scales (VABS) total mean score and subscale mean scores
时间窗: Baseline
Standardized questionnaire filled by the investigator during an interview with the parents or the patient himself if possible. 5 domains. Maximum score 160, minimum score 20, mean score 100, standard deviation 15
次要结局
- Determine if the treatments actually used for patients with pyridoxine dependent epilepsy have an impact on their long-term neurocognitive development, especially the lysine restricted diet(Baseline)
- Evaluation of executive functions with the BRIEF scale(Baseline)
- Clinical and para-clinical description of the population studied(Baseline)
- genotype phenotype correlation(baseline)