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RASopathies are a group of syndromes caused by variants in genes belonging to the RAS/MAPK pathway. Pain is a neglected topic in RASopathies but it is frequently complained by affected individuals.
To detect prevalence and characteristics of pain in RASopathies by using scales, questionnaires, biochemical analysis and neurophysiological assessment tests.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Case group | Experimental | Detection and characterization of pain by clinical evaluations, biochemical analysis and instrumental tests |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Characterization of pain | Diagnostic Test | Standardized scales and questionnaires to detect and characterize pain, blood sample for pain biomarkers, neurophysiological tests |
|
| Measure | Description | Time Frame |
|---|---|---|
| Prevalence of pain in verbal patients with RASopathies | To detect the prevalence of pain in verbal patients with RASopathies by using VAS (visual analogue scale) or NRS (numeric rating sclae). Both scales include a range from 0 to 10 where 0 represents no pain, 1-3 range represents mild pain, 4-6 range represents moderate pain and 7-10 range represents severe pain. | 2 years |
| Prevalence of Pain in no-communitating patients with RASopathies | To detect the prevalence of pain in no-communicating patients with RASopathies by using FLACC scale. The FLACC Scale includes 5 behavioral categories: facial expression, leg movement, bodily activity, cry or verbalization, and consolability. The parents rated their child's pain at its worst within the preceding 24 h in each category on a scale of 0 to 2, thus an overall pain score ranging from 0 to 10. | 2 years |
| Measure | Description | Time Frame |
|---|---|---|
| Characterization of pain in RASopathies | To detect pain location (one site or multiple body sites) by showing a body map (front and back) | 2 years |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Chiara Leoni, MD, PhD | Contact | 0039063381344 | chiara.leoni@policlinicogemelli.it |
| Name | Affiliation | Role |
|---|---|---|
| Chiara Leoni, MD, PhD | Fondazione Policlinico A. Gemelli, IRCCS | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Department of Woman and Child Health and Public Health, Fondazione Policlinico A. Gemelli, IRCCS | Recruiting | Roma | 00168 | Italy |
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| ID | Term |
|---|---|
| D056685 | Costello Syndrome |
| C535579 | Cardiofaciocutaneous syndrome |
| D009634 | Noonan Syndrome |
| ID | Term |
|---|---|
| D019465 | Craniofacial Abnormalities |
| D009139 | Musculoskeletal Abnormalities |
| D009140 | Musculoskeletal Diseases |
| D000015 | Abnormalities, Multiple |
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| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |
| D006330 | Heart Defects, Congenital |
| D018376 | Cardiovascular Abnormalities |
| D002318 | Cardiovascular Diseases |
| D006331 | Heart Diseases |
| D003240 | Connective Tissue Diseases |
| D017437 | Skin and Connective Tissue Diseases |