Diagnosis

Heart Rate Fragmentation in Williams Syndrome

This work is the first to apply heart rate fragmentation analyses to individuals with Williams Syndrome and posits that the heart rate fragmentation parameter W3 may enable detection and investigation of phenomena underlying the pro-arrhythmic short-long-short RR interval sequences paradigm known to precede ventricular fibrillation and ventricular tachycardia. It also forwards a novel method for quantifying sinus arrhythmia and sinus pauses that likely correlates with parasympathetic activity.

Published 2017

To develop a scoring system based on clinical findings to assist pediatricians in the diagnosis of William syndrome

and to delineate when the fluorescent in-situ hybridization test to detect the microdeletion at 7q11.23 may be needed.

Published 2007

Anytime you visit either a WS Clinic or your local physicians please tell them about the new ICD-10 diagnostic code for Williams syndrome, and ask them to put it in their records of use on all procedure reports.  ICD-10 codes are used primarily by insurance providers but they are also extremely important to the research community.  Your physicians use of the ICD-10 code specific to Williams syndrome can truly make a difference for future research on Williams syndrome.

EXTERNAL WEBSITE

Funded by the NIH, HRSA, and DOE, GeneTests-GeneClinics is a medical genetics information resource developed for physicians, healthcare providers, and researchers. You will find information specific to Williams syndrome here.

PDF containing typical physical, medical, neuropsychological, and behavioral characteristics of Williams syndrome. Updated 2020.

The size of the deletion plays a role in the symptoms of WS. Individuals who have a deletion of 28 instead of 26 genes are less likely to have hypertension. Deletions longer than 28 genes are associated with more severe intellectual disability, and seizures (infantile spasms). Deletions shorter than 26 genes are associated with fewer symptoms which vary depending on what genes are deleted.