OBJECTIVE: To obtain information on health and quality of life in adults with Noonan syndrome. STUDY DESIGN: 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. 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.
OBJECTIVE: To obtain information on health and quality of life in adults with Noonan syndrome. STUDY DESIGN: 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. 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.
Authors: Mylène Tajan; Aurélie Batut; Thomas Cadoudal; Simon Deleruyelle; Sophie Le Gonidec; Céline Saint Laurent; Maëlle Vomscheid; Estelle Wanecq; Karine Tréguer; Audrey De Rocca Serra-Nédélec; Claire Vinel; Marie-Adeline Marques; Joffrey Pozzo; Oksana Kunduzova; Jean-Pierre Salles; Maithé Tauber; Patrick Raynal; Hélène Cavé; Thomas Edouard; Philippe Valet; Armelle Yart Journal: Proc Natl Acad Sci U S A Date: 2014-10-06 Impact factor: 11.205
Authors: Roope A Kallionpää; Sirkku Peltonen; Jussi Leppävirta; Minna Pöyhönen; Kari Auranen; Hannu Järveläinen; Juha Peltonen Journal: J Med Genet Date: 2020-06-22 Impact factor: 6.318
Authors: Peter A Lee; Judith L Ross; Birgitte Tønnes Pedersen; Primoz Kotnik; John A Germak; Henrik T Christesen Journal: Int J Pediatr Endocrinol Date: 2015-09-08
Authors: Renée L Roelofs; Ellen Wingbermühle; Paul T van der Heijden; Rosella Jonkers; Marieke de Haan; Roy P C Kessels; Jos I M Egger Journal: J Clin Psychol Med Settings Date: 2020-06