Health and Quality of Life in Adults with Noonan Syndrome
Health and Quality of Life in Adults with Noonan Syndrome
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DOI：
10.1016/j.jpeds.2012.02.043
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发表时间：
2012-09-01
影响因子：
5.1
通讯作者：
Paul, Thomas
中科院分区：
文献类型：
--
作者：
Binder, Gerhard;Grathwol, Sabrina;Paul, Thomas
目的了解Noonan综合征患者的健康状况和生活质量。研究设计从144例23年前发表身高数据的Noonan综合征儿童队列中，筛选出103个能提供足够数据的儿科档案。结果103人中有10人死亡，其中3人猝死(标化死亡率为3.00；95%可信区间为1.44~5.52)。可以通过邮件联系到81人，其中45人做出了积极回应。在45名参与者中，36人的基因分型显示了61%的特征性突变。随访的中位年龄为42.8岁。成人平均身高男性为169.2厘米，女性为154.4厘米。与普通人群相比，参与者的教育程度较低，在没有伴侣的情况下生活得更频繁。生活质量未受到影响。结论Noonan综合征患者病死率较高，文化程度较低，伴侣关系较少。生活质量自评量表-36生活质量良好。该队列中男性的身高比之前报道的要高。(《儿科杂志》2012；161：501-5)。
Objective To obtain information on health and quality of life in adults with Noonan syndrome.Study design Froma cohort of 144 children with the diagnosis of Noonan syndrome whose height data had been published 23 years ago, 103 pediatric files providing adequate data were identified. Participants were sent questionnaires and asked to provide saliva for DNA analysis and to return for physical examination.Results Ten of 103 individuals had died, 3 of them suddenly (standardized mortality ratio, 3.00; 95% CI, 1.44-5.52). Eighty-one individuals could be contacted by mail, with a positive response from 45. Genotyping in 36 of 45 participants revealed characteristic mutations in 61%. Median age at follow-up was 42.8 years. Mean adult heights were 169.2 cm (men) and 154.4 cm (women). In comparison with the general population, participants had lower educational status and lived more frequently without any partner. According to the response to the Short Form-36 questionnaire, quality of life was not impaired.Conclusions Individuals with Noonan syndrome have higher mortality, lower education, and rarely partnership. Quality of life according to self-reported Short Form-36 was good. Men grew taller than previously reported from this cohort. (J Pediatr 2012;161:501-5).