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Publicação
Avaliação e Investigação Etiológica do Atraso do Desenvolvimento Psicomotor / Défice Intelectual
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Orientador(es)
Resumo(s)
Developmental Delay (DD) and Intellectual Disability (ID), depending
on the affected individual being under or above five years-old, result
from environmental or genetic causes during the developmental period,
that manifest as a subnormal functioning of intellectual abilities. In
western countries there is a prevalence of about 3%, with a great impact
in the individuals, their families, as well as in the society. Etiologic
diagnosis remains unknown in about 65-80% of the cases. It is a clinically
heterogeneous condition as it can be sporadic or familiar, encompassing
an autosomal dominant, recessive or X-linked transmission.
Etiologic investigation emphasizes the importance of the clinical and
family history as well as the physical examination, with special care for
dysmorphologic evaluation.
The authors reviewed DD/ ID focusing not only on clinical diagnosis but
mostly on genetic causes and etiologic investigation. The protocol presented
is followed by the Medical Genetics Department of Coimbra’s
Paediatrics Hospital, in accordance to the international consensus.
Descrição
Palavras-chave
Desenvolvimento da Criança Perturbações do Desenvolvimento Deficiência Intelectual
Contexto Educativo
Citação
Saúde Infantil. 2012; 34(3): 5-10