Development and Validation of a Cross-Dimensional Screening Protocol for Remote Phenotyping Applied to Individuals With 3q29 Deletion Syndrome.
R M Pollak, E Sefik, C Klaiman and 10 others
In 21 people with 3q29 deletion, remote cognitive and behavioral scores tracked with in-person scores (correlations 0.637 to 0.806).
This validates a research protocol, not a treatment, and the 2-year gap between assessments limits what it shows.
Key findings
1Remote SIPS total score correlated with in-person SIPS at r = 0.753 (p = 0.003), and the SIPS positive domain at r = 0.806 (p = 0.0009).
2Remote PPVT-5 correlated with in-person verbal IQ at r = 0.637 (p = 0.003), and remote Penn-CNB global accuracy correlated with in-person full-scale IQ at r = 0.710 (p = 0.001).
3The overall SIPS profile shape was not significantly different between in-person and remote evaluations (p = 0.107).
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How it was doneWhat they found
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What it does not show
Only 21 participants completed the remote battery (61.8% of the original 34), and the authors note they cannot rule out selection bias from the travel burden of the original in-person study. The mean gap between in-person and remote assessments was 2.0 years, during which natural developmental change or symptom progression could account for some of the variance the correlations capture. Correlation was used rather than a measure of agreement (e.g., Bland-Altman or intraclass correlation), so the two modalities track together but are not shown to be interchangeable. The researchers had less control over the testing environment and could not make granular behavioural observations such as eye contact or social cuing. Participants with poor internet access or limited technology would be excluded, though in this pilot all 21 had a laptop or desktop. The sample is small, single-site, and drawn from one genetic syndrome; the authors note the protocol may generalise to other rare genomic disorders but this is untested here.
Declared interests
One author (CAS) reports receiving royalties from Pearson Assessments for the Vineland-3, one of the instruments in the broader protocol. All other authors report no competing interests. The work was funded by the National Institute of Mental Health (R01 MH110701 and R01 MH126449, PI Mulle).
The easy way to misread this
Do not read the correlations (0.637 to 0.806) as proof that a remote score can replace an in-person score in a patient's chart. Correlation means the two track together across a group of 21 people; it does not show that any single patient's remote score will match their in-person score, and the 2-year gap between assessments means some of the shared variance may reflect stable traits rather than measurement equivalence.
Summarised by AI from the full paper, without a clinician reviewing it. Check it against the source before it changes what you do. Read it on PubMed →