Mowat-Wilson Syndrome Patient Registry Launches New Survey to Capture Patient Growth Data

  LAS VEGAS, NV - 05/01/2018 (PRESS RELEASE JET)

The Mowat-Wilson Syndrome Patient Registry is pleased to announce it has launched a new survey to capture growth data from individuals who have been diagnosed with Mowat-Wilson Syndrome (MWS).  Data from the survey will contribute to the development of MWS-specific growth charts, paving the way for enhanced diagnoses and treatment options for MWS patients with growth issues.  

Individuals with MWS frequently are small compared to their age group.When medical providers attempt to plot their growth (weight, length/height, and head circumference) on typical growth charts, the MWS patient appears to be small or underweight. This can sometimes lead to unnecessary medical procedures, such as use of a feeding tube to introduce more calories into the body.

Dr. Margaret Adam, Professor of Pediatrics at the University of Washington Medical Center and member of the Mowat-Wilson Syndrome Foundation Medical Advisory Board says the goal is to create growth charts that are available for MWS patients of all ages.

“The growth charts will allow families and providers to know if the person with MWS is growing as expected,” said Dr. Adam. “If, indeed, they are not, providers can then recommend appropriate treatment for the growth issues. We hope to be able to provide families and providers with this important information so that growth can be monitored appropriately.”

The success of the project depends on the ability to collect information on growth from many people and over a range of ages, from birth to adulthood. Since growth is measured during most doctor visits, most families should be able to get this information from their primary care provider.

Dr. Livia Garavelli, a leading MWS researcher from Italy, is also interested in creating MWS-specific growth charts. Dr. Garavelli hopes to combine the data generated by the Mowat-Wilson Syndrome Registry survey with existing data to make growth charts that are applicable to individuals living in a number of different countries.Dr. Garavelli intends to publish the results in a peer-reviewed journal, reporting all data in anonymous form in accordance with the informed consent provided by the patients’ families.  Mowat Wilson Italian Association support and collaboration will be properly acknowledged in any communication or publication.

The Mowat-Wilson Syndrome Patient Registry was initiated in late 2016 thanks to a grant awarded to the Mowat-Wilson Syndrome Foundation from Genetic Alliance, a leading nonprofit health advocacy organization. The registry uses Genetic Alliance’s Platform for Engaging Everyone Responsibly (PEER), a unique technology solution for collecting health data directly from individuals.As of March 1, 2018, the Mowat-Wilson Syndrome Patient Registry has over 133 participants.

MWS is a recently discovered syndrome (defined in 1998) and much is still being learned about the physical, behavioral and developmental issues associated with this rare genetic disorder.  Major signs include distinctive facial features, intellectual disability, delayed development, intestinal disorders, seizures, congenital heart disease, agenesis of the corpus callosum, male genital abnormalities (hypospadias), and major expressive language difficulty.  Most Mowat-Wilson children are non-verbal and experience delayed development of motor skills such as sitting, standing, and walking.  Despite their many difficulties, MWS children typically have friendly and happy personalities, though they will require intense medical attention and personal care throughout their entire lives.

To learn more about MWS visit www.mowat-wilson.org.

For more information on PEER click here.

The mission of the Mowat-Wilson Syndrome Foundation is to enhance the lives of people affected by Mowat-Wilson Syndrome by providing family support, raising awareness, and supporting research and education.