Social impairments in chromosome 22q11.2 deletion syndrome (22q11.2DS): autism spectrum disorder or a different endophenotype?

Angkustsiri et al. (2014) asked a simple question: how many kids with 22q11.2 deletion syndrome really have autism?

They gave parents the SCQ checklist and also ran the ADOS observation on the kids.

Comparing the two tools showed if parent report alone was enough.

Using both tools together gave a lower autism rate than parent report alone.

In short, the SCQ by itself over-counts ASD in this genetic group.

Schwichtenberg et al. (2013) saw the same risk in Down syndrome: SCQ-only screening labeled one in five kids with ASD.

Godfrey et al. (2019) and Amaral et al. (2017) went further, mapping the unique symptom profile of DS+ASD once the SCQ red flag is raised.

Jutley-Neilson et al. (2013) flips the problem in kids with visual loss from SOD/ONH: there the SCQ under-diagnoses ASD because eye problems hide social signs.

So the SCQ can err high or low depending on the syndrome; direct observation is the fix in both cases.

If you screen a child with 22q11.2DS, always follow a high SCQ with the ADOS before writing "ASD" in the file. This two-step rule keeps caseloads accurate and saves hours of mis-planned ABA goals.