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Behavioral profile in RASopathies.

Paolo Alfieri1, Giorgia Piccini, Cristina Caciolo

  • 1Dipartimento di Neuroscienze, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

American Journal of Medical Genetics. Part A
|January 25, 2014
PubMed
Summary
This summary is machine-generated.

Children with RASopathies, genetic disorders affecting RAS-MAPK signaling, show high rates of behavioral issues. Autistic-like behaviors may be underdiagnosed in these developmental disorders.

Keywords:
Costello syndromeLEOPARD syndromeNoonan syndromeNoonan-like syndrome with loose anagen hairRAS/MAPK cascadebehaviorcardiofaciocutaneous syndromegenotype-phenotype correlation analyses

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Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Disorders

Background:

  • RASopathies are developmental disorders caused by mutations in genes regulating the RAS-MAPK signaling pathway.
  • These syndromes include Noonan syndrome, LEOPARD syndrome, Costello syndrome, and cardiofaciocutaneous syndrome.

Purpose of the Study:

  • To investigate neurobehavioral features in individuals with RASopathies.
  • To assess the prevalence of internalizing, externalizing, and autistic-like behaviors in this patient group.

Main Methods:

  • Utilized parent-completed questionnaires: Child Behavior Checklist (CBCL), Social Communication Questionnaire lifetime (SCQ-L), and Modified Checklist for Autism in toddlers (M-CHAT).
  • Surveyed parents of 70 individuals diagnosed with a RASopathy.

Main Results:

  • High rates of internalizing (37%) and externalizing problems (31%) were reported via CBCL.
  • Significant percentages of patients scored above cut-offs for autistic-like behaviors on SCQ-L/M-CHAT: 64% in cardiofaciocutaneous syndrome, 44% in Costello syndrome, and 12% in Noonan syndrome.

Conclusions:

  • Mutations affecting RAS-MAPK signaling are associated with an elevated risk of psychopathology.
  • Autistic-like behaviors may be underdiagnosed in individuals with RASopathies, necessitating further clinical attention.