Villarreal Eva M Lafuente, Prado Sara Chulián, Schack Anne Kristine, Sánchez Sara Álvaro, Casado M Aroa, Krych Lukasz, Garrido-Navas M Carmen
CONGEN, Genetic Counselling Services, C/Albahaca 4, 18006, Granada, Spain.
gMendel ApS, Fruebjergvej 3, 2100, Copenhagen, Denmark.
Eur Child Adolesc Psychiatry. 2025 Mar;34(3):943-958. doi: 10.1007/s00787-024-02547-y. Epub 2024 Aug 8.
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.
医疗保健过渡(HCT)是指从儿童护理向成人专科医生进行临床管理规划、监测和调整的过程。尽管这种做法对所有儿童都很常见,但对于患有慢性疾病和遗传疾病且还涉及心理健康问题的儿童来说,尤为关键(且具有挑战性),这需要多学科方法。在本综述中,我们旨在评估患有特纳综合征(TS)的女孩和年轻女性的过渡现状,将其作为一个模型,因为它是最常见的性染色体非整倍体疾病之一。我们首先描述该综合征,强调一些关于行为、神经发育和心理健康特征的挑战,这些挑战必须在成功的HCT中加以解决。最后,我们强调多学科团队中遗传咨询对于成功实施HCT的重要性,特别是对于患有TS的女孩和女性,以促进她们适应并坚持过渡过程。