Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders

Avaliação genética e neurológica em uma amostra de indivíduos com transtornos globais do desenvolvimento

Carlos Eduardo Steiner Marilisa Mantovani Guerreiro Antonia Paula Marques-de-Faria About the authors

With the aim of analyzing which complementary tests are relevant in the diagnostic evaluation of individuals with pervasive developmental disorders, a protocol of clinical and laboratory evaluation was applied in 103 outpatients. The protocol included chromosomal analysis, screening for inborn errors of metabolism, cytogenetic and molecular study of the FRAXA, FRAXE, and FRAXF mutations, EEG, SPECT, and magnetic resonance imaging study. Eighty-four subjects concluded the complementary tests and were classified either as having autism, atypical autism or Asperger syndrome according to the DSM-IV criteria. Sixteen individuals, all bellonging to the two autistic groups, presented genetic or enviromental factors that may have lead to the behavioral disorders, showing the importance of diagnostic evaluation in this group of conditions. Neuroimaging and EEG findings were non-specific and occurred in similar proportion among the groups, being considered of relative low significance in the diagnostic evaluation of individuals with pervasive developmental disorders.

autism; Asperger syndrome; pervasive developmental disorders; fragile X syndrome; SPECT; magnetic resonance imaging


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