Motor Deficits and Signal Conduction in Individuals With Williams Syndrome
试验速览
- 阶段
- 不适用
- 状态
- 撤回
- 试验地点
- 1
- 主要终点
- Nerve conduction test - Amplitude
研究概览
简要总结
The current study aims to validate basic research findings of abnormal conductivity and motor abilities from a mouse model in humans. The study will measure nerve conduction properties in WS individuals and characterize motor symptoms in individuals with WS.
详细描述
50 individuals with WS will take part in the study. All participants will be recruited from the Williams Syndrome Clinic at Edmond and Lili Safra Children's Hospital, Sheba Medical Center directed by Prof. Doron Gothelf, MD, that coordinates treatment and research of WS in Israel. 20 control age-matched subjects will be recruited as well. A Motor Questionnaire, designed especially for this study will be filled by parents. It includes questions about gross motor, fine motor, gait and coordination characteristics of the children (Bellugi, Bihrle et al. 1990, Wilson, Kaplan et al. 2000, Wilson, Crawford et al. 2009) (General references regarding motor abilities and health).
In addition, participants will undergo the following assessments at the neuromuscular clinic and at the movement laboratory, Sheba Medical Center in collaboration with Dr. Amir Dori, Dr. Uri Givon and Dr. Meir Plotnik: (1) nerve conduction study (2) nerve ultrasound (3) neurological assessments (4) GAITRite walkway for gait analysis (5) 3-D motion analysis.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 年龄范围
- 3 Years 至 30 Years(Child, Adult)
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •WS patients.
排除标准
- •WS patients suffering from additional neurological condition (such as epilepsy).
- •Participants who will have difficulties preforming the tests may ask to be excluded.
结局指标
主要结局
Nerve conduction test - Amplitude
时间窗: 30 days
This test's amplitude outcome present a nerve conduction property that can indicate aberrations in signal conduction.
Nerve conduction test - Latency
时间窗: 30 days
This test's latency outcome present a nerve conduction property that can indicate aberrations in signal conduction.
次要结局
未报告次要终点
