Motor Deficits and Signal Conduction in Individuals With Williams Syndrome

Sheba Medical Center

Status: Withdrawn

Conditions: Williams Syndrome

Study type: Observational

Funder types: Other

Identifiers

NCT05430763

5859-19-SMC

Details and patient eligibility

About

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.

Full 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.

Sex: All

Ages: 3 to 30 years old

Volunteers: No Healthy Volunteers

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.

Trial design

0 participants in 2 patient groups

Williams syndrome

Description:

Nerve conduction test (NCT) Nerve ultrasound Clinical evaluation GAITRite walkway Motor questionnaire

Control, age matched

Description:

Nerve conduction test (NCT) Nerve ultrasound Clinical evaluation GAITRite walkway Motor questionnaire