RASopathies are associated with a distinct personality profile
| Autor: | Rita Brar, Varoona Bizaoui, Lauren A. Weiss, Katherine A. Rauen, Jessica Gage |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Male Congenital 0302 clinical medicine Ectodermal Dysplasia Child Genetics (clinical) Heart Defects media_common Pediatric Costello Syndrome Noonan Syndrome Neuroticism Psychiatry and Mental health Child Preschool Female Psychology Clinical psychology Personality Agreeableness Adult Heart Defects Congenital Neurofibromatosis 1 Adolescent MAP Kinase Signaling System media_common.quotation_subject Clinical Sciences RASopathy Personality Disorders Article 03 medical and health sciences Cellular and Molecular Neuroscience Rare Diseases Clinical Research Behavioral and Social Science Genetics Openness to experience medicine Humans Family Sibling Preschool Extraversion and introversion Siblings Neurosciences Facies Conscientiousness medicine.disease Failure to Thrive 030104 developmental biology Mutation ras Proteins Congenital Structural Anomalies 030217 neurology & neurosurgery |
| Zdroj: | American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, vol 177, iss 4 |
| Popis: | Personality is a complex, yet partially heritable, trait. Although some Mendelian diseases like Williams-Beuren syndrome are associated with a particular personality profile, studies have failed to assign the personality features to a single gene or pathway. As a family of monogenic disorders caused by mutations in the Ras/MAPK pathway known to influence social behavior, RASopathies are likely to provide insight into the genetic basis of personality. Eighty subjects diagnosed with cardiofaciocutaneous syndrome, Costello syndrome, neurofibromatosis type 1, and Noonan syndrome were assessed using a parent-report BFQ-C (Big Five Questionnaire for Children) evaluating agreeableness, extraversion, conscientiousness, intellect/openness, and neuroticism, along with 55 unaffected sibling controls. A short questionnaire was added to assess sense of humor. RASopathy subjects and sibling controls were compared for individual components of personality, multidimensional personality profiles, and individual questions using Student tests, analysis of variance, and principal component analysis. RASopathy subjects were given lower scores on average compared to sibling controls in agreeableness, extraversion, conscientiousness, openness, and sense of humor, and similar scores in neuroticism. When comparing the multidimensional personality profile between groups, RASopathies showed a distinct profile from unaffected siblings, but no difference in this global profile was found within RASopathies, revealing a common profile for the Ras/MAPK-related disorders. In addition, several syndrome-specific strengths or weaknesses were observed in individual domains. We describe for the first time an association between a single pathway and a specific personality profile, providing a better understanding of the genetics underlying personality, and new tools for tailoring educational and behavioral approaches for individuals with RASopathies. |
| Databáze: | OpenAIRE |
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