Behavioral Profile in RASopathies
Copyright policy )Behavioral Profile in RASopathies
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. © 2014 Wiley Periodicals, Inc.
Adult, Heart Defects, Congenital, Male, Adolescent, MAP Kinase Signaling System, Developmental Disabilities, genotype-phenotype correlation analyses, Young Adult, Ectodermal Dysplasia, LEOPARD Syndrome, Noonan syndrome, Humans, cardiofaciocutaneous syndrome, Autistic Disorder, Child, LEOPARD syndrome, Noonan-like syndrome with loose anagen hair, RAS/MAPK cascade, behavior, Mental Disorders, Costello Syndrome, Noonan Syndrome, Facies, Costello syndrome, Failure to Thrive, Child, Preschool, Mutation, ras Proteins, Female
Adult, Heart Defects, Congenital, Male, Adolescent, MAP Kinase Signaling System, Developmental Disabilities, genotype-phenotype correlation analyses, Young Adult, Ectodermal Dysplasia, LEOPARD Syndrome, Noonan syndrome, Humans, cardiofaciocutaneous syndrome, Autistic Disorder, Child, LEOPARD syndrome, Noonan-like syndrome with loose anagen hair, RAS/MAPK cascade, behavior, Mental Disorders, Costello Syndrome, Noonan Syndrome, Facies, Costello syndrome, Failure to Thrive, Child, Preschool, Mutation, ras Proteins, Female
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