Síndrome de Down: etiologia, caracterização e impacto na família

Down syndrome is a genetic disorder that causes mental retardation in varying degrees. At the present time, the symptoms of this syndrome are well known, being the babies’ phenotypical characteristics a very essential factor to the early diagnosis of this disorder. The child being introduced in the sociocultural context contributes to his/her adaptation and well-being. In these cases, the family plays an important role as a mediator between the child and the environment. Therefore, this article aims to describe some aspects of Down syndrome’s characteristics and its etiology, emphasising the family participation in the development and adaptation process of Down syndrome children. We believe that the scientific knowledge of alterations caused by this kind of disorder constitutes the first step to implement effective programmes for parents and professionals.Keywords: Down syndrome; etiology; family