Meta-analysis of olfactory dysfunction in 22q11.2 deletion syndrome. (March 2020) - Moberg, Paul J.
Highlights: Olfactory dysfunction is ubiquitous in 22q11DS across the age range, suggesting it has a central role in the phenotypic characterization of 22q11DS. Quantitative review of effect sizes across the extant olfactory literature in 22q11DS revealed large and diffuse deficits in olfactory function. No significant moderation of olfactory deficit by age or sex was seen. Simple-to-administer tests of olfactory function should be encouraged in the assessment of 22q11DS. Abstract: A quantitative review of literature concerning olfactory function in 22q11.2 deletion syndrome (22q11DS) patients was performed detailing the scope/magnitude of deficits and probing possible moderators. We searched MEDLINE, EMBASE and PubMed to identify studies for inclusion. Effect sizes were based on differences in psychophysical olfactory tests between 22q11DS patients ( n = 194) and typically developing comparison subjects ( n = 466). 22q11DS patients exhibited marked olfactory dysfunction ( d =-1.11, 95% CI=-1.29<δ<-0.92) that was homogeneous ( p = 0.86). Diffuse olfactory deficits were seen which were not moderated by age or sex. 22q11DS patients exhibit large/diffuse deficits in olfactory function that are of a similar magnitude to observed neuropsychological impairments.