[Diagnostic yield in studies of autism. The contribution made by neuroimaging, metabolic tests and genetic studies].

Hospital Francesc de Borja de Gandia, Gandia, España.
Revista de neurologia (Impact Factor: 0.83). 03/2004; 38 Suppl 1:S15-20.
Source: PubMed


We reviewed the literature on the diagnostic yield of the different medical tests carried out on autistic patients in order to determine the aetiology of the process.
Although it is generally said that a causation of the process can be determined in 10 30% of cases, the actual diagnostic yield of autism when a routine diagnosis is applied is between 2 and 7%. The diagnostic yield of radiology, metabolic studies and genetic studies was analysed. Genetic tests are the ones that offer the highest efficiency, and carrying out a karyotype and molecular study of fragile X chromosome syndrome is indicated in all patients with mental retardation associated to autism. The next most efficient are metabolic studies, which become particularly important mainly in populations where no screening has previously been conducted for metabolic disorders.
Despite their being capable of showing up a large number of disorders, neuroimaging studies are unspecific and the diagnostic yield of radiological studies is very low when they are conducted on a routine basis.

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    ABSTRACT: The correct knowledge of the biological bases of autism, is indispensable to obtain an early diagnosis and intervention in these patients, in the context of the daily pediatric assistance, allowing a total or partial patient social integration in a good number of cases. The aim of this revision is to update etiologic concepts related to autism and its implications in the clinical management. The genetic, congenital and metabolic origins are reviewed to the light of recent publications in those fields. It is concluded that the autistic patient shows a wide genetic variability in their etiologic base, giving less room to acquired organic factors and even less to educational or social environmental factors.
    No preview · Article · May 2006 · Revista española de pediatría