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Pain in individuals with RASopathies: Prevalence and clinical characterization in a sample of 80 affected patients
Author(s) -
Leoni Chiara,
Triumbari Elizabeth Katherine Anna,
Vollono Catello,
Onesimo Roberta,
Podagrosi Maria,
Giorgio Valentina,
Kuczynska Eliza,
Veltri Stefania,
Tartaglia Marco,
Zampino Giuseppe
Publication year - 2019
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61111
Subject(s) - medicine , chronic pain , flacc scale , costello syndrome , physical therapy , quality of life (healthcare) , noonan syndrome , visual analogue scale , anesthesia , analgesic , colorectal cancer , nursing , cancer , kras
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 ( N = 42), Costello syndrome ( N = 17), and cardio‐facio‐cutaneous syndrome ( N = 21). A set of standardized questionnaires and scales were administered (VAS/numeric scale, r‐FLACC, Wang‐Baker scale, NPSI, BPI, NCCPC‐R) to detect and characterize acute and chronic pain and to study the influence of pain on quality of life (PEDs‐QL, SF‐36) 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‐skeletal 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.