Manic and depressive symptoms in children diagnosed with noonan syndrome

Paolo Alfieri, Francesca Cumbo, Giulia Serra, Monia Trasolini, Camilla Frattini, Francesco Scibelli, Serena Licchelli, Flavia Cirillo, Cristina Caciolo, Maria Pia Casini, Adele D’amico, Marco Tartaglia, Maria Cristina Digilio, Rossella Capolino, Stefano Vicari

Research output: Contribution to journalArticlepeer-review


Noonan syndrome (NS) is a dominant clinically variable and genetically heterogeneous developmental disorder caused by germ-line mutations encoding components of the Ras-MAPK signaling pathway. A few studies have investigated psychopathological features occurring in individuals with NS, although they were poorly analyzed. The aim of the present work is to investigate the psychopathological features in children and adolescents with NS focusing on depressive and hypo-manic symptoms. Thirty-seven subjects with molecularly confirmed diagnosis were systematically evaluated through a psychopathological assessment. In addition, an evaluation of the cognitive level was performed. Our analyses showed a high recurrence of attention deficit and hyperactivity disorder symptoms, emotional dysregulation, irritability, and anxiety symptomatology. The mean cognitive level was on the average. The present study provides new relevant information on psychopathological features in individuals with NS. The implications for clinicians are discussed including the monitoring of mood disorders in a clinical evolution.

Original languageEnglish
Article number233
Pages (from-to)1-12
Number of pages12
JournalBrain Sciences
Issue number2
Publication statusPublished - Feb 2021


  • Anxiety traits
  • Attention deficit and hyperactivity disorder
  • Deficient emotional self-regulation
  • Irritability
  • Mood
  • Psychopathological features

ASJC Scopus subject areas

  • Neuroscience(all)


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