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新生儿筛查诊断的先天性甲状腺功能减退症年轻成年患者的微妙健康损害和社会教育成就:一项纵向基于人群的队列研究。

Subtle health impairment and socioeducational attainment in young adult patients with congenital hypothyroidism diagnosed by neonatal screening: a longitudinal population-based cohort study.

机构信息

Pediatric Endocrinology Department, Centre de Référence Maladies Endocriniennes Rares de la Croissance, Institut National de la Santé et de la Recherche Médicale Unité 676, Hôpital Robert Debré, 48 Bd Sérurier, 75019 Paris, France.

出版信息

J Clin Endocrinol Metab. 2011 Jun;96(6):1771-82. doi: 10.1210/jc.2010-2315. Epub 2011 Mar 9.

Abstract

CONTEXT

Screening programs resulting in the early treatment of patients with congenital hypothyroidism (CH) have successfully improved neurodevelopmental outcome, but little is known about long-term health.

OBJECTIVES

The aim of the study was to assess health status, and socioeconomic attainment, for a population-based registry of young adult patients.

DESIGN, SETTING, AND PARTICIPANTS: All 1748 eligible patients diagnosed during the first decade after the introduction of neonatal screening in France were invited to participate in this study at a median age of 23.4 yr. Completed questionnaires were obtained from 1202 of the selected patients. The comparison group included 5817 subjects from the last French Decennial Health Survey.

MAIN OUTCOME MEASURES

Health indicators including medical conditions, hearing and visual status, sociodemographic characteristics, and quality of life were measured.

RESULTS

Patients with CH were significantly more likely than their peers to report associated chronic diseases (5.7 vs. 2.9%), hearing impairment (9.5 vs. 2.5%), visual problems (55.4 vs. 47.9%), and being overweight with a body mass index of at least 25 kg/m(2) (22.8 vs. 15.7%) (P < 0.0001). Furthermore, fewer patients attained the highest socioeconomic category (14.6 vs. 23.1%) and were in full-time employment (39.9 vs. 44.8%) (P < 0.0001). They were more likely to still be living with their parents and had a lower health-related quality of life than their healthy peers, particularly for mental dimensions, with a mean difference for the mental summary component of 0.35 SD score (P < 0.0001). CH severity at diagnosis, treatment adequacy, and the presence of other chronic health conditions were the main determinants of educational achievement and health-related quality of life scores.

CONCLUSION

These findings highlight the need for careful monitoring of neurosensory functioning, weight, and long-term treatment adequacy throughout childhood and adulthood.

摘要

背景

通过对先天性甲状腺功能减退症(CH)患者进行早期治疗的筛查项目,成功改善了神经发育预后,但对其长期健康状况知之甚少。

目的

本研究旨在评估基于人群的年轻成年患者登记处的健康状况和社会经济地位。

设计、地点和参与者:所有 1748 名符合条件的患者均在法国新生儿筛查引入后的第一个十年内被诊断出患有该病,他们在中位年龄 23.4 岁时被邀请参加这项研究。从选定的 1202 名患者中获得了完整的调查问卷。对照组包括来自法国上一次十年健康调查的 5817 名受试者。

主要观察指标

包括医疗状况、听力和视力状况、社会人口统计学特征以及生活质量在内的健康指标进行了测量。

结果

与同龄人相比,CH 患者更有可能报告患有相关的慢性疾病(5.7%比 2.9%)、听力障碍(9.5%比 2.5%)、视觉问题(55.4%比 47.9%)和超重(体重指数至少为 25kg/m²)(22.8%比 15.7%)(P<0.0001)。此外,达到最高社会经济类别的患者比例较低(14.6%比 23.1%),全职就业的比例也较低(39.9%比 44.8%)(P<0.0001)。他们更有可能与父母同住,生活质量也不如健康同龄人,尤其是在精神维度方面,心理健康综合评分的平均差异为 0.35 标准差(P<0.0001)。诊断时 CH 的严重程度、治疗的充分性以及其他慢性健康状况是教育成就和健康相关生活质量评分的主要决定因素。

结论

这些发现强调了需要在儿童期和成年期仔细监测神经感觉功能、体重和长期治疗的充分性。

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