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The importance of genetic counselling for turner syndrome transition
被引:0
|作者:
Villarreal, Eva M. Lafuente
[1
]
Prado, Sara Chulian
[1
]
Schack, Anne Kristine
[2
,3
]
Sanchez, Sara alvaro
[1
,4
]
Casado, M. Aroa
[5
]
Krych, Lukasz
[2
,3
]
Garrido-Navas, M. Carmen
[1
,2
,6
]
机构:
[1] CONGEN, Genet Counselling Serv, C-Albahaca 4, Granada 18006, Spain
[2] gMendel ApS, Fruebjergvej 3, DK-2100 Copenhagen, Denmark
[3] Univ Copenhagen, Dept Food Sci Food Microbiol & Fermentat, Frederiksberg 26, DK-1958 Copenhagen, Denmark
[4] Hosp St Joan Deu, Pediat Inst Rare Dis, Genet & Mol Med Dept, Barcelona, Spain
[5] Univ Barcelona, Dept Biol Evolut Ecol & Ciencies Ambientals, Barcelona, Spain
[6] Univ Granada, Fac Med, Avda Invest 11, Granada 18016, Spain
关键词:
Health care transition;
Turner syndrome;
Genetic counselling;
Mental health;
CLINICAL-PRACTICE GUIDELINES;
MENTAL-HEALTH-SERVICES;
CARE;
ADOLESCENTS;
WOMEN;
CHILD;
GIRLS;
CHALLENGES;
READINESS;
MORTALITY;
D O I:
10.1007/s00787-024-02547-y
中图分类号:
B844 [发展心理学(人类心理学)];
学科分类号:
040202 ;
摘要:
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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页码:943 / 958
页数:16
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