Distinct neurocognitive profiles and clinical phenotypes associated with copy number variation at the 22q11.2 locus.
Kathleen P O'Hora, Leila Kushan-Wells, Charles H Schleifer and 6 others
PMID 37997544WHAT IT FOUND
People with a 22q11.2 deletion made more cognitive errors but responded faster than those with a duplication.
The duplication group was slower across all tasks. Speed, not accuracy, best distinguished the two genetic groups and correlated with social functioning in the duplication carriers.
Key findings
0122qDel carriers exhibited more severe accuracy deficits in Episodic Memory and Nonverbal Reasoning compared to 22qDup carriers, while 22qDup carriers were significantly slower than both 22qDel and TD controls in Sensorimotor and Executive Control domains.
02Cognitive speed scores successfully discriminated between 22qDel and 22qDup carriers with 83.8% accuracy, outperforming accuracy scores which achieved 76.6%.
03In 22qDup carriers, faster social cognition speed was associated with less severe psychopathology and better psychosocial functioning, whereas no such relationships were found in 22qDel carriers.
STILL TO COME
How it was doneWhat they foundWhat it means for OTsWhat it means for SLPs
Read the rest of this summary
You get three full summaries a month, free, and we do not ask for a card. Search, the TL;DRs and your library stay unlimited either way.
What it does not show
The sample size was small, particularly for the 22qDup group (n=30), which may have reduced statistical power to detect associations. The wide age range of participants was not evenly distributed across the lifespan, complicating the interpretation of developmental trajectories. Baseline differences in parental education and ethnicity between groups could have influenced cognitive performance. The study did not employ specific performance validity measures, so effort levels during testing could have impacted speed and accuracy scores. Laboratory cognitive tests may not fully reflect real-world cognitive difficulties.
Declared interests
The authors declared no competing financial interests. The study was supported by NIH grants and the Simons Foundation Autism Research Initiative.
The easy way to misread this
Do not assume that slower processing speed indicates lower cognitive ability or effort in 22qDup carriers. The study found that 22qDup carriers were slower than 22qDel carriers but had similar accuracy deficits in many domains, suggesting a different neurocognitive profile rather than a more severe impairment. Additionally, do not generalize the lack of correlation between speed and social functioning in 22qDel carriers to all neurodevelopmental disorders; this specific relationship was unique to the duplication group in this study.