Pain in individuals with RASopathies: Prevalence and clinical characterization in a sample of 80 affected patients

Chiara Leoni*, Elizabeth Katherine Anna Triumbari, Catello Vollono, Roberta Onesimo, Maria Podagrosi, Valentina Giorgio, Eliza Kuczynska, Stefania Veltri, Marco Tartaglia, Giuseppe Zampino

*Autore corrispondente per questo lavoro

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

6 Citazioni (Scopus)


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.
Lingua originaleEnglish
pagine (da-a)940-947
Numero di pagine8
Stato di pubblicazionePubblicato - 2019


  • Noonan syndrome
  • RASopathies
  • cardiofaciocutaneous syndrome
  • costello syndrome
  • pain


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