{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T13:31:32Z","timestamp":1790775092218,"version":"4.1.0"},"reference-count":40,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,3,10]],"date-time":"2019-03-10T00:00:00Z","timestamp":1552176000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["The study was also supported by the Italian Minist"],"award-info":[{"award-number":["The study was also supported by the Italian Minist"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006920","name":"University of Pennsylvania","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006920","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pain in individuals with RASopathies is a neglected topic in literature. In this article, we assessed prevalence and profile of pain in a sample of 80 individuals affected by RASopathies. The study sample included individuals with Noonan syndrome (<jats:italic>N<\/jats:italic> =\u200942), Costello syndrome (<jats:italic>N<\/jats:italic> =\u200917), and cardio\u2010facio\u2010cutaneous syndrome (<jats:italic>N<\/jats:italic> =\u200921). A set of standardized questionnaires and scales were administered (VAS\/numeric scale, r\u2010FLACC, Wang\u2010Baker scale, NPSI, BPI, NCCPC\u2010R) to detect and characterize acute and chronic pain and to study the influence of pain on quality of life (PEDs\u2010QL, SF\u201036) and sleeping patterns (SDSC); revision of past medical history and multisystemic evaluation was provided. Available clinical data were correlated to the presence of pain. High prevalence of acute (44%) and chronic (61%) pain was documented in the examined sample. Due to age and intellectual disability, acute pain was localized in 18\/35 individuals and chronic pain in 33\/49. Muscle\u2010skeletal and abdominal pain was more frequently reported. The intensity of acute and chronic pain interfered with daily activities in 1\/3 of the sample. Pain negatively impacted on QoL and sleeping patterns. This work documents that pain is highly prevalent in RASopathies. Future studies including subjective and objective measures of pain are required to discriminate a somatosensory abnormality from an abnormal elaboration of painful stimuli at a central level.<\/jats:p>","DOI":"10.1002\/ajmg.a.61111","type":"journal-article","created":{"date-parts":[[2019,3,11]],"date-time":"2019-03-11T05:09:49Z","timestamp":1552280989000},"page":"940-947","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["Pain in individuals with RASopathies: Prevalence and clinical characterization in a sample of 80 affected patients"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4089-637X","authenticated-orcid":false,"given":"Chiara","family":"Leoni","sequence":"first","affiliation":[{"name":"Department of Woman and Child Health, Center for Rare Diseases and Birth Defects, Institute of Pediatrics Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Universit\u00e0 Cattolica del Sacro Cuore  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth Katherine Anna","family":"Triumbari","sequence":"additional","affiliation":[{"name":"Department of Woman and Child Health, Center for Rare Diseases and Birth Defects, Institute of Pediatrics Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Universit\u00e0 Cattolica del Sacro Cuore  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catello","family":"Vollono","sequence":"additional","affiliation":[{"name":"Department of Geriatrics, Unit of Neurophysiopathology and Sleep Medicine, Neurosciences and Orthopedics Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Universit\u00e0 Cattolica del Sacro Cuore  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3128-6657","authenticated-orcid":false,"given":"Roberta","family":"Onesimo","sequence":"additional","affiliation":[{"name":"Department of Woman and Child Health, Center for Rare Diseases and Birth Defects, Institute of Pediatrics Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Universit\u00e0 Cattolica del Sacro Cuore  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Podagrosi","sequence":"additional","affiliation":[{"name":"Department of Woman and Child Health, Center for Rare Diseases and Birth Defects, Institute of Pediatrics Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Universit\u00e0 Cattolica del Sacro Cuore  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Giorgio","sequence":"additional","affiliation":[{"name":"Department of Woman and Child Health, Center for Rare Diseases and Birth Defects, Institute of Pediatrics Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Universit\u00e0 Cattolica del Sacro Cuore  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eliza","family":"Kuczynska","sequence":"additional","affiliation":[{"name":"Department of Woman and Child Health, Center for Rare Diseases and Birth Defects, Institute of Pediatrics Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Universit\u00e0 Cattolica del Sacro Cuore  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania","family":"Veltri","sequence":"additional","affiliation":[{"name":"Department of Woman and Child Health, Center for Rare Diseases and Birth Defects, Institute of Pediatrics Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Universit\u00e0 Cattolica del Sacro Cuore  Rome Italy"},{"name":"Department of Neuroscience, Unit of Neuropsychiatry Ospedale Pediatrico Bambino Ges\u00f9  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Tartaglia","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division Ospedale Pediatrico Bambino Ges\u00f9  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Zampino","sequence":"additional","affiliation":[{"name":"Department of Woman and Child Health, Center for Rare Diseases and Birth Defects, Institute of Pediatrics Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Universit\u00e0 Cattolica del Sacro Cuore  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,3,10]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36374"},{"key":"e_1_2_13_3_1","volume-title":"GeneReviews","author":"Allanson J. 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