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Survey: Calling All MWS Caregivers!

Caregiver Survey: Mowat-Wilson Syndrome

The Mowat-Wilson Syndrome Foundation has partnered with suAzio to conduct a survey of Mowat-Wilson Syndrome caregivers like yourself. The survey has been developed in close collaboration with the MWSF to ensure the resulting survey feedback will assist the Foundation to better serve the MWS community. Read more

Research Article: Phenotype and Genotype of 87 Patients with MWS and Recommendations for Care

This study , published by the American College of Medical Genetics and Genomics, analyses clinical data for 87 patients with a molecularly confirmed diagnosis of MWS, including 62 previously reported patients and 25 unpublished cases, and compared them with patients previously reported by other authors. The data  was obtained through collaborations involving clinicians from various countries. Such primary data have never been collated from a large cohort of affected individuals. In this article we present a comprehensive study of MWS features underlining a highly consistent phenotype for the disease, its genotype–phenotype correlations, and the phenotypic and clinical evolution taking place with age. The purpose of the article is to assist clinicians to identify the disease and to provide them with updated care recommendations for patient management.

Full article

Download in PDF format

 

Mowat-Wilson Syndrome Patient Registry Update – February 2017

The Mowat-Wilson Syndrome Foundation is pleased to report on the significant progress being made with the Mowat-Wilson Syndrome Patient Registry.  The registry was launched back in November, 2016.  Here is what Dr. Margaret Adam said at the time.

“As is true for many rare genetic conditions, our ability to collect clinically relevant information that can help physicians provide excellent patient care is limited because each provider has only a small number of patients with the condition. Therefore, to further our knowledge of the breadth of the condition requires engagement of the involved community and a platform in which information can be securely and accurately entered and curated. This in turn will allow expert clinical researchers to extract important information and identify rare complications that will aid physicians who care for individuals with MWS.”

A recap of the participation data through January 31, 2017 shows:

  • 64 Registrations
  • 50 Background surveys completed and 6 in progress
  • 47 Maternal Information surveys completed
  • 24 Genetic Information surveys completed and 20 in progress
  • Information shared from individuals in 11 different countries

The MWS Foundation wants to extend a big “thank you” to those who have gotten involved in the process of sharing their data.  We also want to ask that if you have started the process but have not completed any of the first 3 surveys to please do so.  Our plan is to begin adding additional, condition specific, surveys with the next few months.  The first 2 of those additional surveys will be for Gastrointestinal issues and seizures.

We encourage you to start the process by reading the Registry FAQs. If you are ready to start sharing your data, click here.

If you have not yet begun the process, we ask that you please consider getting involved by sharing your data…Because we don’t know what’s possible.

Contact Information:

Al Triunfo
Director, Mowat-Wilson Syndrome Foundation
Email:  atriunfo@mowat-winson.org
(678) 357-5523

The MWS Study – Behavior Survey Results

Responses collected between November 26, 2007 and May 282012.

Here are the results of the Behavior Survey for individuals with MWS.

Disclaimer – The information compiled below is by no means a scientific study but an informal survey. It is information compiled from the responses supplied to us from a survey of the members or our MWS Email Support Group. Keep in mind that the range of ages of the people that the answers apply to is from infants to adults. Many of the answers may change as children grow and mature.

It was created to give those newly diagnosed with MWS a means to get some idea of what others have experienced in the same situation.


This survey is the sole property of the owners of www.mowatwilson.org © Any reproduction or reuse of the survey without the prior written consent of the owners of this website is expressly forbidden unless for personal private use.

 

 

Mowat-Wilson Syndrome Associated Conditions
Listed Below is a Condensed Version of Our Associated Conditions Survey.

This survey is the sole property of the owners of www.mowatwilson.org ©
Any reproduction or reuse of the survey without the prior written consent of the owners of this website is expressly forbidden unless for personal private use.