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Child Behavior Checklist Emotional Dysregulation Profiles in RASopathies

Author(s): Licchelli Serena, Alfieri Paolo, Caciolo Cristina, Perrino Francesca, Mallardi Maria, Veltri Stefania, Casini Maria Pia, Digilio Maria Cristina, Selicorni Angelo, Zampino Giuseppe, Tartaglia Marco, Menghini Deny, Serra Giulia, Vicari Stefano


The behavioral phenotype of RASophaties is characterised by wide variability in most domains with risk for psychopathology and high prevalence of attention and social problems. The aim of the study is to investigate affective and behavioral dysregulation in RASopathies compared with a control group.


Affective and behavioral dysregulation was investigated in 72 children with RASopathies and 223 children with typical development. Two Child Behaviour Checklist (CBCL) profiles, Deficient Emotional Self-Regulation (DESR) (elevation between 1 and 2 Standard Deviations (SD) in Anxiety/ Depression, Aggression, Attention (AAA) subscales) and Dysregulation Profile (DP) (elevation of 2 Standard Deviations or more) have been investigated. In a subgroup of the cohort, comparison in CBCL subscales was also performed.


Children with Noonan syndrome (NS), Mazzanti syndrome (MS) and cardiofaciocutaneous syndrome (CFCS) had higher and more often clinically significant CBCL AAA profile than children with Noonan syndrome with multiple lentigines (NSML) and Costello syndrome (CS).


The severity of the scores of the AAA profile marks a possible increased psychopathological risk in RASopathies, highlighting the occurrence of behavioral dysregulation in these patients.

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