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Language impairments have been found in apparently typically developing children whose siblings have autism spectrum disorder (ASD), especially in multiplex families (JW Psychiatry Nov 1 2010). This finding raises the question of whether apparently unaffected siblings have different brain activations from typically developing children without autistic siblings. To examine this issue, researchers performed functional magnetic resonance imaging on 25 children with ASD, 20 unaffected children whose siblings had autism (UAS group), and 17 typically developing children (age range, 4–18 years) while the children watched point-light animations of human motion and scrambled displays. Eligible UAS and typically developing children met strict exclusion criteria for any developmental delay (e.g., special school placement) or family history of a broader autism spectrum, except for the affected siblings in the UAS group. The ASD group met comprehensive research and clinical criteria.
When watching human motion versus scrambled displays, both ASD and UAS groups had less activation than the typically developing group in multiple regions (e.g., left dorsolateral prefrontal cortex, right inferior temporal gyrus, bilateral fusiform gyri). The UAS group, compared with the other two groups, had increased activation in additional areas.
Kaiser MD et al. Neural signatures of autism. Proc Natl Acad Sci U S A 2010 Dec 7; 107:21223.
Comment
Other researchers have found that 2-year-olds with ASD preferred to watch nonhuman motion (JW Psychiatry Apr 13 2009). By extending this finding to unaffected siblings, the data from the new study establish a trait feature. The authors speculate that unaffected siblings compensate for genetic factors with increased activity in certain areas of the brain, not present in either typically developing or autistic children. These findings suggest that genetic defects can occur even when not clinically evident, which may complicate the clinician's task of informing parents about the heritability of autism.