PAC1R Genotype to Phenotype Correlations in Autism Spectrum Disorder.
Meredith Goodrich, Anna Chelsea Armour, Karuna Panchapakesan and 9 others
PMID 30556326WHAT IT FOUND
In children with ASD, the CC genotype was linked to more ADI-R reciprocal-social difficulty than GC.
In a small brain-scan subset, CC showed stronger connectivity between the amygdala and a motion-processing region. This is an exploratory genetic finding, not a treatment result.
Key findings
01In the ASD cohort, children with the CC genotype had higher ADI-R reciprocal-social scores than children with the GC genotype.
02The CC genotype did not differ significantly from the GG genotype on ADI-R reciprocal-social scores.
03In the brain-scan subset, the CC genotype had higher amygdala connectivity with the right posterior middle temporal gyrus than the GC genotype.
STILL TO COME
How it was doneWhat they foundWhat it means for SLPs
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What it does not show
Only 20 of 48 children with resting-state images remained after motion and other exclusions, so the brain-scan finding is preliminary. The behavioral group with the GG genotype had only 26 children, so the lack of difference from the CC genotype may reflect limited sample size. The brain-scan analysis excluded children with the GG genotype because the sample was too small after exclusions. The cohort was mostly male (104 of 129), so the findings may not apply well to girls. The study did not test a therapy, diagnostic tool, or clinical decision rule. The paper reports associations, not proof that PAC1R causes social deficits.
Declared interests
The supplied metadata lists NIH extramural and non-U.S. government research support. No author conflict-of-interest declaration appears in the article text.
The easy way to misread this
Do not conclude that PAC1R genotype testing can guide ASD diagnosis or therapy. The finding came from 129 children with ASD and a 20-child brain-scan subset, and the study did not test treatment.