Health and Quality of Life in Adults with Noonan Syndrome

作者：Binder Gerhard^*; Grathwol Sabrina; von Loeper Karoline; Blumenstock Gunnar; Kaulitz Renate; Freiberg Clemens; Webel Martin; Lissewski Christina; Zenker Martin; Paul Thomas

来源：Journal of Pediatrics, 2012, 161(3): 501-+.

DOI：10.1016/j.jpeds.2012.02.043

Objective To obtain information on health and quality of life in adults with Noonan syndrome. %26lt;br%26gt;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. %26lt;br%26gt;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. %26lt;br%26gt;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).

• 出版日期2012-9