Olfactory Deficits and Structural Anomalies of the Peripheral Olfactory System in 22q11.2 Deletion Syndrome
Background: Approximately 25% of individuals with 22q11.2 deletion syndrome (22q11DS) develop a psychotic disorder, and the syndrome shares key neurodevelopmental features with psychosis in the general population. The olfactory system develops early in utero, providing a window into gestational disruptions relevant to psychosis risk. We hypothesized that 22q11DS would show impairments in…
Background: Around 25% of people with 22q11.2 deletion syndrome (22q11DS) go on to develop a psychotic disorder. This syndrome shares fundamental neurodevelopmental aspects with psychosis in the broader population. The olfactory system emerges early during fetal development, which makes it a valuable indicator of disruptions in the womb that could be linked to an increased risk of psychosis.
The researchers posited that 22q11DS would demonstrate impairments in olfactory function and structural abnormalities in the olfactory system compared to those with psychotic spectrum (PS) conditions who do not have a known genetic syndrome, as well as typically developing (TD) individuals.
Methods: The study included 101 individuals with 22q11DS, 56 individuals with PS, and 52 TD participants. The research focused on sinonasal symptoms, odor identification, and discrimination, assessed through the Sniffin Sticks test. Additionally, structural magnetic resonance imaging (MRI) was performed to measure the volume of the olfactory bulb, the depth and length of the sulci. The number of participants varied depending on the specific analysis being conducted.
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