Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders
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 error...
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Academia Brasileira de Neurologia (ABNEURO)
2003-06-01
|
| Series: | Arquivos de Neuro-Psiquiatria |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2003000200003&tlng=en |
| _version_ | 1818972429702135808 |
|---|---|
| author | Carlos Eduardo Steiner Marilisa Mantovani Guerreiro Antonia Paula Marques-de-Faria |
| author_facet | Carlos Eduardo Steiner Marilisa Mantovani Guerreiro Antonia Paula Marques-de-Faria |
| author_sort | Carlos Eduardo Steiner |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-20T15:08:08Z |
| format | Article |
| id | doaj.art-7f7150bdc5cf48a69aea4a66f54bccaf |
| institution | Directory Open Access Journal |
| issn | 1678-4227 |
| language | English |
| last_indexed | 2024-12-20T15:08:08Z |
| publishDate | 2003-06-01 |
| publisher | Academia Brasileira de Neurologia (ABNEURO) |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj.art-7f7150bdc5cf48a69aea4a66f54bccaf2022-12-21T19:36:25ZengAcademia Brasileira de Neurologia (ABNEURO)Arquivos de Neuro-Psiquiatria1678-42272003-06-01612A17618010.1590/S0004-282X2003000200003Genetic and neurological evaluation in a sample of individuals with pervasive developmental disordersCarlos Eduardo Steiner0Marilisa Mantovani Guerreiro1Antonia Paula Marques-de-Faria2Universidade Estadual de CampinasUniversidade Estadual de CampinasUniversidade Estadual de CampinasWith 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2003000200003&tlng=enautismAsperger syndromepervasive developmental disordersfragile X syndromeSPECTmagnetic resonance imaging |
| spellingShingle | Carlos Eduardo Steiner Marilisa Mantovani Guerreiro Antonia Paula Marques-de-Faria Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders Arquivos de Neuro-Psiquiatria autism Asperger syndrome pervasive developmental disorders fragile X syndrome SPECT magnetic resonance imaging |
| title | Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders |
| title_full | Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders |
| title_fullStr | Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders |
| title_full_unstemmed | Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders |
| title_short | Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders |
| title_sort | genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders |
| topic | autism Asperger syndrome pervasive developmental disorders fragile X syndrome SPECT magnetic resonance imaging |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2003000200003&tlng=en |
| work_keys_str_mv | AT carloseduardosteiner geneticandneurologicalevaluationinasampleofindividualswithpervasivedevelopmentaldisorders AT marilisamantovaniguerreiro geneticandneurologicalevaluationinasampleofindividualswithpervasivedevelopmentaldisorders AT antoniapaulamarquesdefaria geneticandneurologicalevaluationinasampleofindividualswithpervasivedevelopmentaldisorders |