TY - JOUR
T1 - Behavioral profile in RASopathies
AU - Alfieri, Paolo
AU - Piccini, Giorgia
AU - Caciolo, Cristina
AU - Perrino, Francesca
AU - Gambardella, Maria Luigia
AU - Mallardi, Maria
AU - Cesarini, Laura
AU - Leoni, Chiara
AU - Leone, Daniela
AU - Fossati, Chiara
AU - Selicorni, Angelo
AU - Digilio, Maria Cristina
AU - Tartaglia, Marco
AU - Mercuri, Eugenio
AU - Zampino, Giuseppe
AU - Vicari, Stefano
PY - 2014
Y1 - 2014
N2 - 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.
AB - 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.
KW - Behavior
KW - Cardiofaciocutaneous syndrome
KW - Costello syndrome
KW - Genotype-phenotype correlation analyses
KW - LEOPARD syndrome
KW - Noonan syndrome
KW - Noonan-like syndrome with loose anagen hair
KW - RAS/MAPK cascade
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U2 - 10.1002/ajmg.a.36374
DO - 10.1002/ajmg.a.36374
M3 - Article
C2 - 24458522
AN - SCOPUS:84896317852
VL - 164
SP - 934
EP - 942
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 4
ER -