Pervasive developmental disorders. Clinical and genetics aspects

摘要: Pervasive developmental disorders (PDD) encompass a heterogeneous group of children with deficits verbal and non-verbal language, social communication, restricted repertoire activities or repetitive behaviours. The frequency in general population is considered 27.5/10,000. In this study, we analyzed the clinical genetic aspects Autism, Asperger Syndrome, PDD Not Otherwise Specified, Rett Syndrome Childhood Disintegrative Disorder. We clinical, behavioural neuropsychological features. revised different medical genetics associated conditions divided pervasive into two groups: Syndromic forms (around 20%) non syndromic (currently proposed to be 80%). early recognition diagnosis specific syndromes allow therapy, correct counselling, follow up anticipating possible complications related entity. Finally, although bases autism have not yet been identified, following candidate genes proposed: 15q, 2q, 17q, 7q, 12q, X genes, among others; which are study will better understanding these future.