Motor Deficits and Signal Conduction in Individuals With Williams Syndrome
Trial Snapshot
- Phase
- Not Applicable
- Status
- Withdrawn
- Sponsor
- Sheba Medical Center
- Locations
- 1
- Primary Endpoint
- Nerve conduction test - Amplitude
Study Overview
Brief Summary
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.
Detailed Description
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.
Study Design
- Study Type
- Observational
- Observational Model
- Case Control
- Time Perspective
- Prospective
Eligibility Criteria
- Ages
- 3 Years to 30 Years (Child, Adult)
- Sex
- All
- Accepts Healthy Volunteers
- No
Inclusion Criteria
- •WS patients.
Exclusion Criteria
- •WS patients suffering from additional neurological condition (such as epilepsy).
- •Participants who will have difficulties preforming the tests may ask to be excluded.
Outcomes
Primary Outcomes
Nerve conduction test - Amplitude
Time Frame: 30 days
This test's amplitude outcome present a nerve conduction property that can indicate aberrations in signal conduction.
Nerve conduction test - Latency
Time Frame: 30 days
This test's latency outcome present a nerve conduction property that can indicate aberrations in signal conduction.
Secondary Outcomes
No secondary outcomes reported