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.

Alfieri, P., Piccini, G., Caciolo, C., Perrino, F., Gambardella, M., Mallardi, M., Cesarini, L., Leoni, C., Leone, D., Fossati, C., Selicorni, A., Digilio, M., Tartaglia, M., Mercuri, E. M., Zampino, G., Vicari, S., Behavioral profile in RASopathies, <<AMERICAN JOURNAL OF MEDICAL GENETICS. PART A>>, N/A; 164A (4): 934-942. [doi:10.1002/ajmg.a.36374] [http://hdl.handle.net/10807/65138]

Behavioral profile in RASopathies

Mercuri, Eugenio Maria;Zampino, G;Vicari, S.
2014

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.
Inglese
Alfieri, P., Piccini, G., Caciolo, C., Perrino, F., Gambardella, M., Mallardi, M., Cesarini, L., Leoni, C., Leone, D., Fossati, C., Selicorni, A., Digilio, M., Tartaglia, M., Mercuri, E. M., Zampino, G., Vicari, S., Behavioral profile in RASopathies, <<AMERICAN JOURNAL OF MEDICAL GENETICS. PART A>>, N/A; 164A (4): 934-942. [doi:10.1002/ajmg.a.36374] [http://hdl.handle.net/10807/65138]
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/65138
Citazioni
  • ???jsp.display-item.citation.pmc??? 32
  • Scopus 48
  • ???jsp.display-item.citation.isi??? 48
social impact