Behavioral profile in RASopathies

Paolo Alfieri; Giorgia Piccini; Cristina Caciolo; Francesca Perrino; Maria Luigia Gambardella; Maria Mallardi; Laura Cesarini; Chiara Leoni; Daniela Leone; Chiara Fossati; Angelo Selicorni; Maria Cristina Digilio; Marco Tartaglia; Eugenio Maria Mercuri; Giuseppe Zampino; Stefano Vicari

doi:10.1002/ajmg.a.36374

Behavioral profile in RASopathies

Paolo Alfieri, Giorgia Piccini, Cristina Caciolo, Francesca Perrino, Maria Luigia Gambardella, Maria Mallardi, Laura Cesarini, Chiara Leoni, Daniela Leone, Chiara Fossati, Angelo Selicorni, Maria Cristina Digilio, Marco Tartaglia, Eugenio Maria Mercuri, Giuseppe Zampino, Stefano Vicari

Risultato della ricerca: Contributo in rivista › Articolo 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 originale	English
pagine (da-a)	934-942
Numero di pagine	9
Rivista	AMERICAN JOURNAL OF MEDICAL GENETICS. PART A
Volume	164A
DOI	https://doi.org/10.1002/ajmg.a.36374
Stato di pubblicazione	Pubblicato - 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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10.1002/ajmg.a.36374

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title = "Behavioral profile in RASopathies",

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.",

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author = "Paolo Alfieri and Giorgia Piccini and Cristina Caciolo and Francesca Perrino and Gambardella, {Maria Luigia} and Maria Mallardi and Laura Cesarini and Chiara Leoni and Daniela Leone and Chiara Fossati and Angelo Selicorni and Digilio, {Maria Cristina} and Marco Tartaglia and Mercuri, {Eugenio Maria} and Giuseppe Zampino and Stefano Vicari",

year = "2014",

doi = "10.1002/ajmg.a.36374",

language = "English",

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pages = "934--942",

journal = "AMERICAN JOURNAL OF MEDICAL GENETICS. PART A",

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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 Maria

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.

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DO - 10.1002/ajmg.a.36374

M3 - Article

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EP - 942

JO - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

JF - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

ER -

Behavioral profile in RASopathies

Abstract

Keywords

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