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The importance of genetic counselling for turner syndrome transition.
Villarreal, Eva M Lafuente; Prado, Sara Chulián; Schack, Anne Kristine; Sánchez, Sara Álvaro; Casado, M Aroa; Krych, Lukasz; Garrido-Navas, M Carmen.
Afiliación
  • Villarreal EML; CONGEN, Genetic Counselling Services, C/Albahaca 4, 18006, Granada, Spain.
  • Prado SC; CONGEN, Genetic Counselling Services, C/Albahaca 4, 18006, Granada, Spain.
  • Schack AK; gMendel ApS, Fruebjergvej 3, 2100, Copenhagen, Denmark.
  • Sánchez SÁ; Food Microbiology and Fermentation, Department of Food Science, University of Copenhagen, Frederiksberg 26, 1958, Copenhagen, Denmark.
  • Casado MA; CONGEN, Genetic Counselling Services, C/Albahaca 4, 18006, Granada, Spain.
  • Krych L; Genetic and Molecular Medicine Department, Pediatric Institute for Rare Diseases, Hospital Sant Joan de Déu, Barcelona, Spain.
  • Garrido-Navas MC; Departament de Biologia EvolutivaEcologia i Ciències Ambientals, Universitat de Barcelona, Barcelona, Spain.
Article en En | MEDLINE | ID: mdl-39115686
ABSTRACT
The healthcare transition (HCT) is the process of planning, monitoring, and adjusting the clinical management from children's care to adult specialists. Although this practice is common for all children, it is especially crucial (and challenging) for those with chronic disorders and genetic conditions that also involve mental health issues, requiring a multidisciplinary approach. In this review, we aim to assess the current status of transition for girls and young women with Turner syndrome (TS) as a model as it is one of the most common sexual chromosomal aneuploidies. We first describe the syndrome highlighting some of the challenges regarding behavioural, neurodevelopmental, and mental health characteristics that must be addressed for a successful HCT. Finally, we emphasize the importance of genetic counselling within multidisciplinary groups for the successful implementation of HCT, especially for girls and women with TS, to facilitate their adaptation and adhesion to the transition process.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Eur Child Adolesc Psychiatry Asunto de la revista: PEDIATRIA / PSIQUIATRIA Año: 2024 Tipo del documento: Article País de afiliación: España Pais de publicación: Alemania

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Eur Child Adolesc Psychiatry Asunto de la revista: PEDIATRIA / PSIQUIATRIA Año: 2024 Tipo del documento: Article País de afiliación: España Pais de publicación: Alemania