Cornelia de lange syndrome: main cognitive-behavioral features
Keywords:
Cognitive development, Behavioral development, Psychomotor development, Genetic diseases, Genetic mutations, Cornelia de Lange syndrome.Abstract
Introduction: Cornelia de Lange syndrome is an uncommon developmental disorder. Due to the low incidence of these cases and therefore the limited knowledge about them, it was necessary to carry out this review in order to help raise the level of knowledge on the subject, allow the detection of some clinical features of patients with this syndrome and thus improve their care. Objective: describe the main cognitive-behavioral characteristics of Cornelia de Lange syndrome, taking into account its definition, etiology, symptoms and signs, diagnosis, treatment and life expectancy of patients suffering from it. Method: a bibliographical review of the editions of the classic books of Genetics, Embryology and Obstetrics was carried out, in addition to online databases such as: Medline, Scielo, Scopus, Ebesco, Google academico; a total of 45 bibliographies were reviewed, of which 26 were selected for the preparation of the article. Development: the causes of this syndrome are genetically heterogeneous. Prenatal diagnosis is limited to the detection of major abnormalities, therefore it is difficult to identify the phenotypic features of this pathology. Treatment varies depending on the signs and symptoms in each person. To improve their quality of life, the child may undergo language therapy. Conclusions: at the cognitive level this syndrome is associated with intellectual disability and psychomotor retardation. Among the behavioral alterations are: hyperactivity, heteroaggressiveness, self-aggressiveness and obsessive-compulsive behaviors.
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