The importance of genetic counselling for turner syndrome transition

Eva M. Lafuente Villarreal, Sara Chulián Prado, Anne Kristine Schack, Sara Álvaro Sánchez, M. Aroa Casado, Lukasz Krych, M. Carmen Garrido-Navas*

*Corresponding author for this work

Research output: Contribution to journalReviewResearchpeer-review

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.

Original languageEnglish
JournalEuropean Child and Adolescent Psychiatry
ISSN1018-8827
DOIs
Publication statusAccepted/In press - 2024

Bibliographical note

Publisher Copyright:
© Springer-Verlag GmbH Germany, part of Springer Nature 2024.

Keywords

  • Genetic counselling
  • Health care transition
  • Mental health
  • Turner syndrome

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