Behavioral Phenotypes and Comorbidity in 3q29 Deletion Syndrome: Results from the 3q29 Registry.
Rebecca M Pollak, Michael Mortillo, Melissa M Murphy and 1 others
PMID 38216835WHAT IT FOUND
Individuals with 3q29 deletion syndrome show significantly elevated behavioral problems and high rates of comorbidity compared to controls.
The CBCL autism screener is highly sensitive for ASD, but CBCL/ABCL scales are poor screeners for anxiety and ADHD, requiring gold-standard diagnostic evaluations.
Key findings
01Participants with 3q29del scored significantly higher than controls on Total Problems, Internalizing, Externalizing, and DSM-keyed scales for depression, anxiety, and ADHD.
02The preschool CBCL autism spectrum problems scale had 100% sensitivity for ASD diagnosis, but the CBCL/ABCL anxiety and ADHD scales had low sensitivity (63.6% and 72.2%) and specificity.
0360.42% of participants with 3q29del scored in the Borderline or Clinical range on two or more DSM-keyed scales, indicating high comorbidity.
STILL TO COME
How it was doneWhat they foundWhat it means for SLPs
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What it does not show
The sample was overwhelmingly white and non-Hispanic, limiting generalizability across racial and ethnic groups. Data relied on parent-report questionnaires, which may be subject to bias. The study population skewed young (mean age ~10.9 years), and the adult ABCL subgroup was very small (n=8 cases, n=4 controls), leaving some analyses underpowered. Registry participants may represent a more severely affected subset of the population due to self-selection bias.
Declared interests
The study was funded by the National Institute of Mental Health. No other conflicts of interest were reported.
The easy way to misread this
Do not use CBCL or ABCL anxiety and ADHD scales to rule out these diagnoses in patients with 3q29del. These tools missed 28-36% of individuals with confirmed diagnoses in the validation subset, so negative screening scores do not exclude the condition.