Behavioral phenotype and autism spectrum disorders in Cornelia de Lange syndrome

Michele Roccella, Lucia Parisi, Teresa Di Filippo

Risultato della ricerca: Articlepeer review

23 Citazioni (Scopus)


Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by distinctive facial features, growth retardation, limb abnormalities, intellectual disability, and behavioral problems. Cornelia de Lange syndrome is associated with abnormalities on chromosomes 5, 10 and X. Heterozygous point mutations in three genes (NIPBL, SMC3 and SMC1A), are responsible for approximately 50-60% of CdLS cases. CdLS is characterized by autistic features, notably excessive repetitive behaviors and expressive language deficits. The prevalence of autism spectrum disorder (ASD) symptomatology is comparatively high in CdLS. However, the profile and developmental trajectories of these ASD characteristics are potentially different to those observed in individuals with idiopathic ASD. A significantly higher prevalence of self-injury are evident in CdLS. Selfinjury was associated with repetitive and impulsive behavior. This study describes the behavioral phenotype of four children with Cornelia de Lange syndrome and ASDs and rehabilitative intervention that must be implemented.
Lingua originaleEnglish
pagine (da-a)32-35
Numero di pagine4
RivistaMental Illness
Stato di pubblicazionePublished - 2015

All Science Journal Classification (ASJC) codes

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