Behavioral profile in RASopathies

Eugenio Maria Mercuri, Giuseppe Zampino, Stefano Vicari, Paolo Alfieri, Giorgia Piccini, Cristina Caciolo, Chiara Fossati, Angelo Selicorni, Maria Cristina Digilio, Marco Tartaglia

Risultato della ricerca: Contributo in rivistaArticolo in rivista

35 Citazioni (Scopus)

Abstract

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.
Lingua originaleEnglish
pagine (da-a)934-942
Numero di pagine9
RivistaAMERICAN JOURNAL OF MEDICAL GENETICS. PART A
Volume164A
DOI
Stato di pubblicazionePubblicato - 2014

Keywords

  • Adolescent
  • Adult
  • Autistic Disorder
  • Child
  • Child, Preschool
  • Costello Syndrome
  • Costello syndrome
  • Developmental Disabilities
  • Ectodermal Dysplasia
  • Facies
  • Failure to Thrive
  • Female
  • Heart Defects, Congenital
  • Humans
  • LEOPARD Syndrome
  • LEOPARD syndrome
  • MAP Kinase Signaling System
  • Male
  • Mental Disorders
  • Mutation
  • Noonan Syndrome
  • Noonan syndrome
  • Noonan-like syndrome with loose anagen hair
  • RAS/MAPK cascade
  • Young Adult
  • behavior
  • cardiofaciocutaneous syndrome
  • genotype-phenotype correlation analyses
  • ras Proteins

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