Behavioral profile in RASopathies
| Autor: | Paolo Alfieri, Maria Luigia Gambardella, Chiara Fossati, Cristina Caciolo, Angelo Selicorni, Maria Cristina Digilio, Giuseppe Zampino, Daniela Leone, Stefano Vicari, Laura Cesarini, Chiara Leoni, Marco Tartaglia, Eugenio Mercuri, Francesca Perrino, Giorgia Piccini, Maria Mallardi |
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| Rok vydání: | 2012 |
| Předmět: |
Adult
Heart Defects Congenital Male medicine.medical_specialty Pediatrics Adolescent MAP Kinase Signaling System Developmental Disabilities Modified Checklist for Autism in Toddlers CBCL RASopathy genotype-phenotype correlation analyses Cardiofaciocutaneous syndrome LEOPARD Syndrome Congenital Young Adult Settore MED/39 - NEUROPSICHIATRIA INFANTILE Costello syndrome Ectodermal Dysplasia Internal medicine mental disorders Genetics Medicine Humans cardiofaciocutaneous syndrome Autistic Disorder Preschool Child Behavior Checklist Child Genetics (clinical) Heart Defects Noonan-like syndrome with loose anagen hair RAS/MAPK cascade behavior business.industry Mental Disorders Costello Syndrome Noonan Syndrome Facies medicine.disease Failure to Thrive Endocrinology Child Preschool Mutation ras Proteins Noonan syndrome Female business |
| Zdroj: | American journal of medical genetics. Part A. (4) |
| ISSN: | 1552-4833 |
| Popis: | Here, we describe neurobehavioral features in patients with RASopathies (i.e., Noonan syndrome, LEOPARD syndrome, Costello syndrome, and cardiofaciocutaneous syndrome), developmental disorders caused by mutations in genes coding transducers participating in the RAS-MAPK signaling cascade. Parents of 70 individuals with a RASopathy were asked to fill out the following questionnaires: Child Behavior Checklist (CBCL), Social Communication Questionnaire version lifetime (SCQ-L), and Modified Checklist for Autism in toddlers (M-CHAT). Data analysis indicated high rates of internalizing (37%) and externalizing problems (31%) on CBCL. Scores over the cut-off were documented in 64% of patients with cardiofaciocutaneous syndrome, 44% with Costello syndrome, and 12% with Noonan syndrome on SCQ-L/M-CHAT. Our findings indicate that mutations promoting dysregulation of the RAS-MAPK cascade mark an increased psychopathological risk and highlight that autistic-like behavior could be underdiagnosed in patients with RASopathies. |
| Databáze: | OpenAIRE |
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