European Medical Education Initiative on Noonan Syndrome

Clinical practice survey for specialists diagnosing and managing patients with Noonan syndrome in Europe

The European Medical Education Initiative on Noonan Syndrome (EMEINS) aims to raise awareness of this rare disorder and ultimately improve patient care by assessing disease management across Europe, identifying gaps in current clinical practice and suggesting means with which to optimise diagnostic, therapeutic and monitoring procedures.

This Initiative comprises the following experts: Thomas Edouard, Emma Burkitt-Wright, Sixto García-Miñaúr, Jan Lebl, Ingegerd Östman-Smith, Guftar Shaikh, Marco Tartaglia, Alain Verloes, Cordula Wolf, and Martin Zenker.

In order to obtain a “snapshot” of current clinical practice, the following clinical practice survey has been developed to focus on the diagnosis and clinical management of diseases within the Noonan syndrome phenotypic spectrum.

We welcome responses from healthcare professionals from the following clinical specialties:
·       Clinical geneticists
·       Paediatric endocrinologists
·       Paediatric cardiologists

The survey takes approximately 15−20 minutes to complete. Some of the questions are specialty-specific and may therefore not be applicable to all survey respondents. You will be able to skip questions if not applicable to you, and return to a previous question as you are working through the questionnaire, if needed. You may return to the survey after you have started it and complete it at a different time point, although we ask that you do so from the same location (i.e., using the same computer). To finalize your answers, please select ‘Submit’ at the end of the survey. The deadline for completing the survey online will be 25 October 2020.
Please contact with any questions, or additional information that you may wish to provide.

Thank you for your participation.

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2. In which city are you based?

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3. By which type of medical institution are you primarily employed?
Please select more than one answer if there is an overlap between choices.

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4. What is your speciality / area of interest?

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5. How many patients with Noonan syndrome or other clinically related disorders are seen by you / your department in an average year?