Publications by authors named "Serena Licchelli"

Noonan syndrome (NS) is a clinical variable multisystem disorder caused by mutations in genes encoding proteins involved in the RAS/mitogen-activated protein kinase signaling pathway. NS is characterized by a distinctive facies, short stature, and congenital heart defects. Psychomotor delay, learning difficulties, and social deficits are also common.

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Article Synopsis
  • Noonan syndrome (NS) is a genetic developmental disorder linked to mutations in the Ras-MAPK signaling pathway, resulting in variable clinical symptoms.
  • This study evaluates the psychopathological features, particularly depressive and hypo-manic symptoms, in 37 children and adolescents with NS, finding significant signs of attention deficit, irritability, emotional dysregulation, and anxiety.
  • The average cognitive levels of the subjects were found to be normal, emphasizing the importance for clinicians to monitor mood disorders in individuals with Noonan syndrome.
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KBG syndrome is a rare multisystem developmental disorder caused by ankyrin repeat domain-containing protein 11 (ANKRD11) gene haploinsufficiency, resulting from either intragenic loss-of-function mutations or microdeletions encompassing the gene. Concerning the behavioral phenotype, a limited amount of research has been focused on attention deficit and hyperactivity disorder, autistic-like features, anxiety and impairments in emotion regulation, and no study has provided a systematic assessment. The aim of the present work is to investigate the psychopathological profile in children, adolescents, and young adults with KBG syndrome.

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Introduction: Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, skeletal and haematological/lymphatic defects, distinctive facies, cryptorchidism, and a wide spectrum of congenital heart defects. Recurrent features also include variable cognitive deficits and behavioural problems. Recent research has been focused on the assessment of prevalence, age of onset and characterization of psychiatric features in this disorder.

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Attention deficit/hyperactivity disorder (ADHD) is the most common neurobehavioral disorder of childhood. There is an increasing need to find objective measures and markers of the disorder in order to assess the efficacy of the therapies and to improve follow-up strategies. Actigraphy is an objective method for recording motor activity and sleep parameters that has been used in many studies in ADHD.

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