Neurofibromatose Typ 1: Vorsorgebogen für Kinder und Jugendliche in Österreich

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2024年4月16日

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Amedeo A. Azizi,
Alicia-Christina Baumgartner,
Markus Seidel,
Joachim Zobel,
Georg Ebetsberger-Dachs,
Herta Zellner,
Christian Rauscher,
Robert Birnbacher,
Ursula Pichler,
Edda Haberlandt,
Cora Hedrich,
Anna Sophie Berghoff,
Robert W. Gruber,
Tobias Welponer,
Markus Hutterer,
Kerstin Krottendorfer,
Thomas Pletschko,
Claas Röhl

摘要

Background

Neurofibromatosis type 1 (NF1) manifests in childhood with a variety of potential symptoms. Besides the development of tumours (primarily but not exclusively in the nervous system), orthopaedic, neurocognitive/educational and psychosocial aspects are particularly important.

Objective

In Austria clear guidelines for the care of children and adolescents with NF1 were lacking. The development of a form for prevention and care should facilitate a standardised approach.

Methodology

The Austrian NF network was established in 2021 and is comprised of experts as well as members of the patient association NF Kinder, reached a consensus through repeated discussions regarding the optimal preventive care for children and adolescents with NF1. The form is designed for healthcare professionals who provide care and treatment for individuals with NF1.

Results

The paediatric prevention and care form is divided into the sections clinical examination/laboratory/radiology and referral. It precisely indicates when and which investigations or controls are considered advisable or recommended.

Conclusion

The development of this form for paediatric prevention and care in NF1 represents a significant step in standardising the care for children and adolescents with NF1 in Austria. With its clear structure and practical recommendations, it aims to facilitate more effective management and early detection of relevant health aspects.