DOWN SYNDROME – LONGITUDINAL STUDY OF CLINICAL EVOLUTION AND PSYCHO-SOCIAL IMPLICATIONS

Q4 Medicine Revista Romana de Pediatrie Pub Date : 2021-06-30 DOI:10.37897/rjp.2021.2.8
C. Petcheși, G. Ciavoi, F. Feier, O. Iuhas, K. Kozma, Claudia Jurca, M. Bembea
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Abstract

Introduction. Down syndrome is the most common chromosomal disorder, with a worldwide frequency of 1 case in 700 live births. Objectives. Starting from the hypothesis that with the increased life expectancy of the patients with Down syndrome, new phenotypic changes and new dysfunctions are expected to appear, we proposed a longitudinal study to analyze their evolution over a long period of time. Material and method. This is a longitudinal study, based on retrospective research and descriptive evaluation, performed on a group of 81 patients from the case series of the Bihor Regional Center for Medical Genetics from Oradea. Results. We have identified 4 types of evolutionary trends of the clinical signs: stationary, involutive, progressive and with late onset. Conclusions. Knowledge of the natural evolution of the signs and symptoms of the disease is indispensable in the long-term monitoring of patients with Down syndrome. The birth of a child with Down syndrome is a real drama for the family with a strong emotional impact that can be prevented or mitigated by facilitating prenatal diagnosis, psychological counselling, social support and specialized genetic advice.
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唐综合征&临床演变和心理社会影响的纵向研究
介绍唐氏综合症是最常见的染色体疾病,全世界每700例活产中就有1例发生。目标。从唐氏综合征患者的预期寿命增加,预计会出现新的表型变化和新的功能障碍这一假设出发,我们提出了一项纵向研究来分析它们在很长一段时间内的演变。材料和方法。这是一项基于回顾性研究和描述性评估的纵向研究,对来自Oradea比霍尔地区医学遗传学中心病例系列的81名患者进行了研究。后果我们已经确定了4种类型的临床体征的进化趋势:静止、退化、进行性和迟发。结论。了解疾病体征和症状的自然演变对于唐氏综合征患者的长期监测是必不可少的。唐氏综合症患儿的出生对家庭来说是一场真正的戏剧,具有强烈的情感影响,可以通过促进产前诊断、心理咨询、社会支持和专门的基因咨询来预防或减轻这种影响。
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发文量
15
审稿时长
4 weeks
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