European Medical Education Initiative on Noonan Syndrome: A clinical practice survey assessing the diagnosis and clinical management of individuals with Noonan syndrome across Europe

García-Miñaúr, S. et al. (2022) European Medical Education Initiative on Noonan Syndrome: A clinical practice survey assessing the diagnosis and clinical management of individuals with Noonan syndrome across Europe. European Journal of Medical Genetics, 65(1), 104371. (doi: 10.1016/j.ejmg.2021.104371) (PMID:34757053)

Abstract

Introduction: Noonan syndrome (NS) is a rare genetic disorder caused by mutations in genes encoding components of the RAS/mitogen-activated protein kinase (MAPK) signalling pathway. Patients with NS exhibit certain characteristic features, including cardiac defects, short stature, distinctive facial appearance, skeletal abnormalities, cognitive deficits, and predisposition to certain cancers. Here, a clinical practice survey was developed to learn more about differences in the diagnosis and management of this disease across Europe. The aim was to identify gaps in the knowledge and management of this rare disorder. Materials and methods: The European Medical Education Initiative on NS, which comprised a group of 10 experts, developed a 60-question clinical practice survey to gather information from European physicians on the diagnosis and clinical management of patients with diseases in the NS phenotypic spectrum. Physicians from three specialities (clinical genetics, paediatric endocrinology, paediatric cardiology) were invited to complete the survey by several national and European societies. Differences in answers provided by respondents between specialities and countries were analysed using contingency tables and the Chi-Squared test for independence. The Friedman's test was used for related samples. Results: Data were analysed from 364 respondents from 20 European countries. Most respondents came from France (21%), Spain (18%), Germany (16%), Italy (15%), United Kingdom (8%) and the Czech Republic (6%). Respondents were distributed evenly across three specialities: clinical genetics (30%), paediatric endocrinology (40%) and paediatric cardiology (30%). Care practices were generally aligned across the countries participating in the survey. Delayed diagnosis did not emerge as a critical issue, but certain unmet needs were identified, including transition of young patients to adult medical services and awareness of family support groups. Conclusion: Data collected from this survey provide a comprehensive summary of the diagnosis and clinical management practices for patients with NS across different European countries.

• Item Type: Articles
• Additional Information: Financial support and sponsorship. The initiative was supported by an unrestricted grant from Novo Nordisk Europe A/S, with Steering Committee members receiving honoraria for survey development. Novo Nordisk has had no influence on the scientific content or materials generated as part of this project. MZ, MT and TE are recipients of EJP-RD funding (NSEuroNet) (grant number for MZ: FKZ 01GM1921A). MZ also received funding from the German Federal Ministry of Education and Research (BMBF) for the project GeNeRARe (German Network for RASopathy Research; FKZ: 01GM1902A). JL is a recipient of AZV grant No. NV18-07-00283.
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Shaikh, Dr Mohammed Guftar
• Authors: García-Miñaúr, S., Burkitt-Wright, E., Verloes, A., Shaikh, G., Lebl, J., Östman-Smith, I., Wolf, C. M., Ortega Castelló, E., Tartaglia, M., Zenker, M., and Edouard, T.
• College/School: College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing
• Journal Name: European Journal of Medical Genetics
• Publisher: Elsevier
• ISSN: 1769-7212
• ISSN (Online): 1878-0849
• Published Online: 27 December 2021
• Copyright Holders: Copyright © 2021 The Authors
• First Published: First published in European Journal of Medical Genetics 65(1):104371
• Publisher Policy: Reproduced under a Creative Commons licence