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Motor Deficits and Signal Conduction in Individuals With Williams Syndrome

Williams Syndrome Clinical Trial

Official title:
Motor Deficits and Signal Conduction in Individuals With Williams Syndrome

Clinical Trial 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.

Clinical Trial 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

Related Conditions & MeSH terms

Clinical Trial Details
NCT number NCT05430763
Study type Observational
Source Sheba Medical Center
Contact
Status Enrolling by invitation
Phase
Start date February 2023
Completion date August 2030
View Details
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