Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND)

Nanetti, Lorenzo; Kearney, Mary; Boesch, Sylvia; Stovickova, Lucie; Ortigoza-Escobar, Juan Darío; Macaya, Alfons; Gomez-Andres, David; Roze, Emmanuel; Molnar, Maria-Judit; Wolf, Nicole I.; Darling, Alejandra; Vasco, Gessica; Bertini, Enrico; Indelicato, Elisabetta; Neubauer, David; Haack, Tobias B.; Sagi, Judit C.; Danti, Federica R.; Sival, Deborah; Zanni, Ginevra; Kolk, Anneli; Boespflug-Tanguy, Odile; Schols, Ludger; van de Warrenburg, Bart; Vidailhet, Marie; Willemsen, Michèl A.; Buizer, Annemieke I.; Orzes, Enrico; Ripp, Sophie; Reinhard, Carola; Moroni, Isabella; Mariotti, Caterina; ,; Freilinger, Michael; Monika, Benson; Anna, Ardissone; Prihodova, Iva; Lohmann, Klara Hruba Ebba; Gröschel, Samuel; Muenchau, Alexander; Grundmann-Hauser, Kathrin; Rieß, Olaf Horst; Landwehrmeyer, Bernhard; Borovečki, Fran; de Koning, Tom J.; Kinga, Hadzsiev; Spiegler, Juliane; Haaxma, Charlotte; Siegert, Sandy; Fichera, Mario; Martin, Tamara; Lopez, Nuria Couto; Bevot, Andrea

doi:10.1007/s10072-023-07101-3

Neurol Sci

2023

DOI: 10.1007/s10072-023-07101-3

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Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND)

Lorenzo Nanetti,

Mary Kearney,

Sylvia Boesch

et al.

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2024

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Cited by 2 publications

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The importance of genetic counselling for turner syndrome transition

Villarreal,

Prado,

Schack

et al. 2024

Eur Child Adolesc Psychiatry

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The importance of genetic counselling for turner syndrome transition

Villarreal,

Prado,

Schack

et al. 2024

Eur Child Adolesc Psychiatry

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Understanding and managing patients with adult rare diseases

Moon

2024

J Genet Med

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Despite advances in the diagnosis and management of rare diseases (RDs), there remains a tendency to overlook adult RD patients. In addition to the considerable number of adult-onset RDs, advances in the diagnosis and management of pediatric RDs have led to an increase in the survival of these patients into adulthood. Adult RDs exhibit distinct features from pediatric counterparts, necessitating careful consideration during medical assessments. Given the extended life expectancy of adult RD patients, precise diagnosis and management strategies can significantly enhance patient outcomes. This review aims to provide an in-depth exploration of the characteristics unique to adult RDs. Special emphasis will be placed on the importance of cascade screening and prenatal genetic testing in the context of adult RDs, highlighting the need for a comprehensive understanding of these aspects in clinical practice.

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Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND)

Cited by 2 publications

References 19 publications

The importance of genetic counselling for turner syndrome transition

The importance of genetic counselling for turner syndrome transition

Understanding and managing patients with adult rare diseases

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