Neurodevelopmental profile of HIVEP2-related disorder.
Alisa Mo, Leeanne G Snyder, Owen Babington and 3 others
PMID 34704275WHAT IT FOUND
Children with HIVEP2-related disorder had mild adaptive impairment on average, severe social behavior problems even without autism, and clinically significant emotional and behavioral difficulties.
Key findings
01Mean adaptive composite score was 56.4 (mild impairment), and daily living scores varied from borderline to severe.
02Mean social behavior T score was 76.4 (severe), and scores were elevated with and without autism diagnosis.
03Mean total problems T score was 66.9 (clinically significant), attention problems 72.0 (clinically elevated), and internalizing problems 57.3 (normal range).
STILL TO COME
How it was doneWhat they foundWhat it means for PTsWhat it means for OTsWhat it means for SLPs
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What it does not show
Only 12 participants were studied, and many analyses had fewer, so patterns are descriptive and cannot support statistical comparisons. Diagnoses and developmental delays were parent-reported, and original ASD assessment methods were not available. No standardized IQ scores were available, so cognitive level could not be directly analyzed. Participants overlapping with earlier reports could not be removed. CBCL/6-18 was designed for typically developing children, so its results need caution in intellectual disability. No intervention was tested, so it cannot show that therapy changed outcomes.
Declared interests
The provided metadata lists NIH extramural research support. The supplied article text does not state author conflicts of interest.
The easy way to misread this
Do not read the elevated social and behavioral scores as proof that every child with a HIVEP2 variant has autism or that a therapy works. The sample was only 12, diagnoses were parent-reported, and autism-like scores were high both with and without a formal autism diagnosis.