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dc.contributor.authorVegunta, Sravanthi
dc.date.accessioned2016-03-25T22:27:19Zen
dc.date.available2016-03-25T22:27:19Zen
dc.date.issued2016-03-25
dc.identifier.urihttp://hdl.handle.net/10150/603667
dc.descriptionA Thesis submitted to The University of Arizona College of Medicine - Phoenix in partial fulfillment of the requirements for the Degree of Doctor of Medicine.en
dc.description.abstractBackground and Significance: Noonan syndrome (NS) is a multiple malformation syndrome characterized by pulmonic stenosis, cardiomyopathy, short stature, lymphatic dysplasia, craniofacial anomalies, cryptorchidism, clotting disorders, and learning disabilities. Eight genes in the RAS/MAPK signaling pathway are implicated in NS. Chronic pain is an uncommon feature. Research question and Methods: To investigate the prevalence of pain in NS, we distributed a two‐part questionnaire about pain among NS individuals at the Third International Meeting on Genetic Syndromes of the Ras/MAPK Pathway. The first part of the questionnaire queried demographic information among all NS participants. The second part was completed by individuals with chronic pain. Questions included musculoskeletal problems and clinical features of pain. Results: Forty‐five questionnaires were analyzed; 53% of subjects were female. Mean age was 17 (2–48) years; 47% had a PTPN11 mutation. Sixty‐two percent (28/45) of individuals with NS experienced chronic pain. There was a significant relationship between prevalence of pain and residing in a cold climate (P = 0.004). Pain occurred commonly in extremities/joints and head/trunk, but more commonly in extremities/joints (P = 0.066). Subjects with hypermobile joints were more likely to have pain (P = 0.052). Human growth hormone treatment was not statistically significant among subjects without chronic pain (P = 0.607). We conclude that pain is a frequent and under‐recognized clinical feature of NS. Conclusion: Chronic pain may be associated with joint hypermobility and aggravated by colder climate. Our study is a preliminary investigation that should raise awareness about pain as a common symptom in children and adults with NS.
dc.language.isoen_USen
dc.publisherThe University of Arizona.en_US
dc.rightsCopyright © is held by the author. Digital access to this material is made possible by the College of Medicine - Phoenix, University of Arizona. Further transmission, reproduction or presentation (such as public display or performance) of protected items is prohibited except with permission of the author.en_US
dc.subject.meshChronic Painen
dc.subject.meshNoonan Syndromeen
dc.titleChronic Pain in Noonan Syndrome: A Previously Unreported but Common Symptomen_US
dc.typetext; Electronic Thesisen
dc.contributor.departmentThe University of Arizona College of Medicine - Phoenixen
dc.description.collectioninformationThis item is part of the College of Medicine - Phoenix Scholarly Projects 2016 collection. For more information, contact the Phoenix Biomedical Campus Library at pbc-library@email.arizona.edu.en_US
dc.contributor.mentorGrebe, Theresa A.en
html.description.abstractBackground and Significance: Noonan syndrome (NS) is a multiple malformation syndrome characterized by pulmonic stenosis, cardiomyopathy, short stature, lymphatic dysplasia, craniofacial anomalies, cryptorchidism, clotting disorders, and learning disabilities. Eight genes in the RAS/MAPK signaling pathway are implicated in NS. Chronic pain is an uncommon feature. Research question and Methods: To investigate the prevalence of pain in NS, we distributed a two‐part questionnaire about pain among NS individuals at the Third International Meeting on Genetic Syndromes of the Ras/MAPK Pathway. The first part of the questionnaire queried demographic information among all NS participants. The second part was completed by individuals with chronic pain. Questions included musculoskeletal problems and clinical features of pain. Results: Forty‐five questionnaires were analyzed; 53% of subjects were female. Mean age was 17 (2–48) years; 47% had a PTPN11 mutation. Sixty‐two percent (28/45) of individuals with NS experienced chronic pain. There was a significant relationship between prevalence of pain and residing in a cold climate (P = 0.004). Pain occurred commonly in extremities/joints and head/trunk, but more commonly in extremities/joints (P = 0.066). Subjects with hypermobile joints were more likely to have pain (P = 0.052). Human growth hormone treatment was not statistically significant among subjects without chronic pain (P = 0.607). We conclude that pain is a frequent and under‐recognized clinical feature of NS. Conclusion: Chronic pain may be associated with joint hypermobility and aggravated by colder climate. Our study is a preliminary investigation that should raise awareness about pain as a common symptom in children and adults with NS.


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