Meta-analysis of olfactory dysfunction in 22q11.2 deletion syndrome

Paul J Moberg; Bruce I Turetsky; Emily A Moberg; Christian G Kohler; Sunny X Tang; Ruben C Gur; Raquel E Gur; David R Roalf

doi:10.1016/j.psychres.2020.112783

Meta-analysis of olfactory dysfunction in 22q11.2 deletion syndrome

Psychiatry Res. 2020 Jan 16:285:112783. doi: 10.1016/j.psychres.2020.112783. Online ahead of print.

Authors

Paul J Moberg¹, Bruce I Turetsky², Emily A Moberg³, Christian G Kohler², Sunny X Tang², Ruben C Gur⁴, Raquel E Gur⁴, David R Roalf⁴

Affiliations

¹ Department of Psychiatry, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA; Department of Otorhinolaryngology: Head & Neck Surgery. Electronic address: moberg@pennmedicine.upenn.edu.
² Department of Psychiatry, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
³ Markets and Food Research, World Wildlife Fund, Washington D.C, USA.
⁴ Department of Psychiatry, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA; Lifespan Brain Institute (LiBi), University of Pennsylvania Perelman School of Medicine and Children's Hospital of Philadelphia, PA, USA.

PMID: 32014626
DOI: 10.1016/j.psychres.2020.112783

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.

Keywords: 22q11.2 Deletion Syndrome; DiGeorge Syndrome; Meta-analysis; Olfactory; Smell.

Publication types

Review

Grants and funding

R01 MH119185/MH/NIMH NIH HHS/United States