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PubMed · 10789321

Autism--an evolving concept.

Abstract

BACKGROUND: The rapid increase in research endeavour has not kept pace with the advent of well-publicized theories and treatments for autism. AIMS: To explore some of the newer developments in biological research into autism. METHOD: A review of recent publications and presentations. RESULTS: The concept is shifting from the narrow perception of aloof autism, described by Kanner, to a wider one that includes a spectrum extending to a broader, subclinical phenotype. The genetic basis has been established; now we need to discover the location and interaction of the relevant sites. There is considerable interest in the bowel as a pathogenetic agent, particularly in the effects of exogenous opioids and multiple viral infection (the latter posing a public health problem). Also of concern is the role of (potentially treatable) epilepsy, analogous to the Laudau-Kleffner syndrome. CONCLUSIONS: In the absence of a cure, the implementation of ideas will continue to outstrip factual evidence. Clinicians are challenged by the availability of information (and misinformation), particularly on the internet.

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BibTeXRIS

T P Berney. 2000. Autism--an evolving concept.. https://doi.org/10.1192/bjp.176.1.20

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Childhood-onset schizophrenia/autistic disorder and t(1;7) reciprocal translocation: identification of a BAC contig spanning the translocation breakpoint at 7q21.

Childhood-onset schizophrenia (COS) is defined by the development of first psychotic symptoms by age 12. While recruiting patients with COS refractory to conventional treatments for a trial of atypical antipsychotic drugs, we discovered a unique case who has a familial t(1;7)(p22;q21) reciprocal translocation and onset of psychosis at age 9. The patient also has symptoms of autistic disorder, which are usually transient before the first psychotic episode among 40-50% of the childhood schizophrenics but has persisted in him even after the remission of psychosis. Cosegregating with the translocation, among the carriers in the family available for the study, are other significant psychopathologies, including alcohol/drug abuse, severe impulsivity, and paranoid personality and language delay. This case may provide a model for understanding the genetic basis of schizophrenia or autism. Here we report the progress toward characterization of genomic organization across the translocation breakpoint at 7q21. The polymorphic markers, D7S630/D7S492 and D7S2410/D7S646, immediately flanking the breakpoint, may be useful for further confirming the genetic linkage for schizophrenia or autism in this region. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:749-753, 2000. Published 2000 Wiley-Liss, Inc.

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