Autism in search of a home in the brain
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Investigators have attempted to define the neural pathophysiology of autism ever since the hypothesis of “refrigerator parents” as its cause was replaced by the view that it is a developmental disorder of the immature brain. As the article by Minshew et al.1 and the Views & Reviews by DeLong2 in this issue of Neurology show, consensus has yet to be reached. Minshew et al. examine whether abnormal control of eye movements is best explained by impaired vermal or frontal lobe dysfunction; DeLong’s focus is on the temporal lobes and on abnormal maturation of serotonergic pathways. These are by no means the only brain regions implicated; earlier studies have invoked maldevelopment or, rarely, damage of the cerebellum and some brainstem and diencephalic nuclei, involvement of the basal ganglia and thalamus, frontal neuronal migration deficits, thinness of parietal gyri and posterior corpus callosum, and dysfunction of dopamine and opiate neurotransmitter pathways.
Similar to dementia in the elderly, autism (pervasive developmental disorder [PDD] in Diagnostic and Statistical Manual of Mental Disorders, 4th ed. [DSM-IV] and International Classification of Diseases [ICD]-10 parlance) is not a medical diagnosis but a behaviorally defined syndrome of early childhood with a variety of biologic causes. Its severity varies so widely that DSM-IV divides it into five behavioral subtypes. All have in common impaired sociability, language, nonverbal communicative skills, and imagination, together with stereotypic behaviors and preoccupations. Other features are lack of cognitive flexibility, poor organizational skills and insight into what others may be thinking, rigidity, perseveration, and often heightened anxiety. Intelligence is affected in many but not all individuals, although intelligence quotient (IQ) is not a defining feature of autism. DSM-IV specifies that the behavioral deficits must be out of proportion to the individual’s cognitive level, without defining this discrepancy in quantitative terms.
The five DSM-IV …
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