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罗马尼亚东北部唐氏综合征成人的人口统计学特征和临床特点

Demographic Profile and Clinical Characteristics of Adults with Down Syndrome in North-Eastern Romania.

作者信息

Lefter Nicoleta, Abdulan Irina Mihaela, Maștaleru Alexandra, Leon Maria-Magdalena, Rusu Cristina

机构信息

Faculty of Medicine, "Grigore T. Popa" University of Medicine and Pharmacy, 700115 Iasi, Romania.

Department of Medical Specialties I, "Grigore T. Popa" University of Medicine and Pharmacy, 700115 Iasi, Romania.

出版信息

Clin Pract. 2024 Aug 30;14(5):1779-1789. doi: 10.3390/clinpract14050142.

Abstract

(1) Background: Down syndrome is characterized by physical abnormalities, intellectual disability (ID), and specific patterns of other health issues. Additionally, individuals with DS are known to experience premature aging and early onset of certain age-related medical conditions. These conditions are linked to higher incident disability and reduced survival rates compared to the general population. (2) Methods: Between July 2022 and February 2024, we conducted a prospective, observational study in the Cardiovascular Rehabilitation Clinic at Iasi Clinical Rehabilitation Hospital. The study included 28 patients diagnosed with Down Syndrome and a control group. Interdisciplinary interventions were tailored to address the needs of a complex patient, incorporating cardiological, endocrinological, genetical, biological and developmental support. Data on physical health, cognitive development, and psychosocial well-being were collected. (3) Results: Our DS group consisted of 11 (39%) females and 17 (61%) males. Their age ranged from 20 to 55 years with a mean of 28.07 ± 9.51. All patients were unmarried, living in urban areas, without a partner but with family support. In the study sample, 96.4% of participants had three or more comorbidities. (4) Conclusions: The high prevalence of multimorbidity, combined with little medication, contributes to a high level of clinical complexity, which appears to be similar to the one of the older non-trisomic population. As individuals with Down syndrome transition into adulthood, they may require a more comprehensive and holistic approach to their healthcare.

摘要

(1) 背景:唐氏综合征的特征是身体异常、智力残疾以及其他特定的健康问题模式。此外,唐氏综合征患者还会经历早衰以及某些与年龄相关的疾病的早发。与普通人群相比,这些疾病与更高的残疾发生率和更低的生存率相关。(2) 方法:2022年7月至2024年2月期间,我们在雅西临床康复医院的心血管康复诊所进行了一项前瞻性观察研究。该研究纳入了28名被诊断为唐氏综合征的患者以及一个对照组。针对复杂患者的需求进行了多学科干预,纳入了心脏病学、内分泌学、遗传学、生物学和发育支持等方面。收集了有关身体健康、认知发展和社会心理福祉的数据。(3) 结果:我们的唐氏综合征组由11名(39%)女性和17名(61%)男性组成。他们的年龄在20至55岁之间,平均年龄为28.07±9.51岁。所有患者均未婚,居住在城市地区,没有伴侣但有家庭支持。在研究样本中,96.4%的参与者患有三种或更多的合并症。(4) 结论:多种合并症的高患病率,再加上用药较少,导致临床复杂性较高,这似乎与非三体的老年人群相似。随着唐氏综合征患者步入成年,他们可能需要更全面、整体的医疗保健方法。

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