Behavioral phenotype and autism spectrum disorders in Cornelia de Lange syndrome
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 poin...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Hindawi - Emerald Publishing
2015-09-01
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| Series: | Mental Illness |
| Subjects: | |
| Online Access: | http://www.pagepress.org/journals/index.php/mi/article/view/5988 |
| _version_ | 1797970818676817920 |
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| author | Lucia Parisi Teresa Di Filippo Michele Roccella |
| author_facet | Lucia Parisi Teresa Di Filippo Michele Roccella |
| author_sort | Lucia Parisi |
| collection | DOAJ |
| description | 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 (<em>NIPBL</em>, <em>SMC3</em> and <em>SMC1A</em>), 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. Self-injury 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. |
| first_indexed | 2024-04-11T03:22:58Z |
| format | Article |
| id | doaj.art-ceebad058e0848fa8210837f522b7f3d |
| institution | Directory Open Access Journal |
| issn | 2036-7457 2036-7465 |
| language | English |
| last_indexed | 2024-04-11T03:22:58Z |
| publishDate | 2015-09-01 |
| publisher | Hindawi - Emerald Publishing |
| record_format | Article |
| series | Mental Illness |
| spelling | doaj.art-ceebad058e0848fa8210837f522b7f3d2023-01-02T08:33:21ZengHindawi - Emerald PublishingMental Illness2036-74572036-74652015-09-017210.4081/mi.2015.59883200Behavioral phenotype and autism spectrum disorders in Cornelia de Lange syndromeLucia Parisi0Teresa Di Filippo1Michele Roccella2Department of Psychological, Pedagogical and Educational Sciences, University of PalermoDepartment of Psychological, Pedagogical and Educational Sciences, University of PalermoDepartment of Psychological, Pedagogical and Educational Sciences, University of PalermoCornelia 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 (<em>NIPBL</em>, <em>SMC3</em> and <em>SMC1A</em>), 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. Self-injury 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.http://www.pagepress.org/journals/index.php/mi/article/view/5988Cornelia de Lange syndromeAutismBehavioral phenotype |
| spellingShingle | Lucia Parisi Teresa Di Filippo Michele Roccella Behavioral phenotype and autism spectrum disorders in Cornelia de Lange syndrome Mental Illness Cornelia de Lange syndrome Autism Behavioral phenotype |
| title | Behavioral phenotype and autism spectrum disorders in Cornelia de Lange syndrome |
| title_full | Behavioral phenotype and autism spectrum disorders in Cornelia de Lange syndrome |
| title_fullStr | Behavioral phenotype and autism spectrum disorders in Cornelia de Lange syndrome |
| title_full_unstemmed | Behavioral phenotype and autism spectrum disorders in Cornelia de Lange syndrome |
| title_short | Behavioral phenotype and autism spectrum disorders in Cornelia de Lange syndrome |
| title_sort | behavioral phenotype and autism spectrum disorders in cornelia de lange syndrome |
| topic | Cornelia de Lange syndrome Autism Behavioral phenotype |
| url | http://www.pagepress.org/journals/index.php/mi/article/view/5988 |
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