[Genetic and clinical diagnosis of infantile autism].
The main objectives of this study were to characterize the selected variables for a better understanding and diagnosis of infantile autism such as clinical and image findings, diagnostic criteria, frequency of neuropsychiatric disorders in the subjects' families, familial recurrence and occurrence of consangunity between the subjects' parents and between other couples in the family. The sample was composed of 36 subjects of both sexes, in the age group from 1 though 20 years old, members of 35 distinctive families, all of which presenting clinical diagnosis for infantile autism. Mental retardation was clinically observed in all subjects of the sample and convulsion in 27.8%; neuropsychiatric disorders were referred in at least one family member of the subjects (97.14% of the families); recurrent autism in 11.42% grandparents and great-grand-parents (2.86%); abnormal findings in computed tomography scan were observed in three subjects. These results support the suggestion of the multifactorial heredity model with differential threshold fold sex in infantile autism. The clinical evaluation of all infantile autism cases should always appraise the neurological, psychiatric and genetic features.
da Costa
M I
MI
Departamento Materno-Infantil-CCS-Universidade Federal da Paraíba.
Nunesmaia
H G
HG
D000293:Adolescent; D000328:Adult; D001321:Autistic Disorder / Q000175:diagnosis* / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D008297:Male; D012640:Seizures