The importance of genetic counselling for turner syndrome transition.

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

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: Germany : European child & adolescent psychiatry , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 699603

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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