The importance of genetic counselling for turner syndrome transition.

Autor: 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.; Food Microbiology and Fermentation, Department of Food Science, University of Copenhagen, Frederiksberg 26, 1958, Copenhagen, Denmark., Sánchez SÁ; CONGEN, Genetic Counselling Services, C/Albahaca 4, 18006, Granada, Spain.; Genetic and Molecular Medicine Department, Pediatric Institute for Rare Diseases, Hospital Sant Joan de Déu, Barcelona, Spain., Casado MA; Departament de Biologia EvolutivaEcologia i Ciències Ambientals, Universitat de Barcelona, Barcelona, Spain., Krych L; gMendel ApS, Fruebjergvej 3, 2100, Copenhagen, Denmark.; Food Microbiology and Fermentation, Department of Food Science, University of Copenhagen, Frederiksberg 26, 1958, Copenhagen, Denmark., Garrido-Navas MC; CONGEN, Genetic Counselling Services, C/Albahaca 4, 18006, Granada, Spain. info@congen.es.; gMendel ApS, Fruebjergvej 3, 2100, Copenhagen, Denmark. info@congen.es.; Facultad de Medicina, Universidad de Granada, Avda. de la Investigación 11, 18016, Granada, Spain. info@congen.es.
Jazyk: angličtina
Zdroj: European child & adolescent psychiatry [Eur Child Adolesc Psychiatry] 2024 Aug 08. Date of Electronic Publication: 2024 Aug 08.
DOI: 10.1007/s00787-024-02547-y
Abstrakt: 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.
(© 2024. Springer-Verlag GmbH Germany, part of Springer Nature.)
Databáze: MEDLINE
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