Pediatric Endocrinology, University-Children's Hospital, Tuebingen, Germany.
J Pediatr. 2012 Sep;161(3):501-505.e1. doi: 10.1016/j.jpeds.2012.02.043. Epub 2012 Apr 10.
To obtain information on health and quality of life in adults with Noonan syndrome.
From a 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.
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.
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.
获取努南综合征成人的健康和生活质量信息。
从 23 年前发表身高数据的 144 名努南综合征儿童队列中，确定了 103 份提供足够数据的儿科档案。向参与者发送问卷，并要求提供唾液进行 DNA 分析，并返回进行体检。
103 人中 10 人死亡，其中 3 人突然死亡（标准化死亡率比，3.00；95%置信区间，1.44-5.52）。通过邮件联系到 81 人，其中 45 人做出了积极回应。在 45 名参与者中的 36 名进行基因分型，发现 61%存在特征性突变。中位随访年龄为 42.8 岁。成年身高的平均值为男性 169.2 厘米，女性 154.4 厘米。与一般人群相比，参与者的受教育程度较低，且更频繁地没有伴侣。根据简明 36 项健康调查问卷的回答，生活质量未受损害。
努南综合征患者的死亡率较高，受教育程度较低，很少有伴侣。根据自我报告的简明 36 项健康调查，生活质量良好。男性比该队列之前报告的身高更高。
