关键词: Genetic counselling Health care transition Mental health Turner syndrome

来  源:   DOI:10.1007/s00787-024-02547-y

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.
摘要:
医疗保健过渡(HCT)是一个规划的过程,监测,并调整从儿童护理到成人专家的临床管理。虽然这种做法对所有孩子都很常见,对于那些患有慢性疾病和遗传疾病的人来说,这尤其重要(也具有挑战性),这些疾病也涉及心理健康问题,需要多学科的方法。在这次审查中,我们旨在评估以特纳综合征(TS)为模型的女孩和年轻女性的过渡现状,因为它是最常见的性染色体非整倍体之一.我们首先描述了这种综合征,突出了一些关于行为的挑战,神经发育,以及成功的HCT必须解决的心理健康特征。最后,我们强调多学科小组内遗传咨询对于成功实施HCT的重要性,特别是对于患有TS的女孩和妇女,以促进其适应和粘附过渡过程。
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