No participents enrolled

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.

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.

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.

Williams syndrome (WS) is a neurodevelopmental genetic disorder caused by a hemizygous deletion of approximately 25 genes on the long arm of chromosome 7 (7q11.23), with a prevalence of around 1 in 20,000 individuals. Individuals with WS exhibit unique social phenotype marked by strong social appetite and disinhibited social behavior. In addition, WS individuals exhibit cognitive impairments, motor deficits which are poorly defined, and several more physical and psychological phenotypes.