# Olfactory and facial markers of developmental risk for psychosis in 22q11 deletion syndrome

> **NIH NIH R01** · UNIVERSITY OF PENNSYLVANIA · 2020 · $740,401

## Abstract

Project Summary: 22q11.2 deletion syndrome (22q11DS) is associated with an increased risk for psychiatric
disorders, including psychosis with similar symptoms to individuals with idiopathic schizophrenia (SZ), and
about 1-2% of cases of idiopathic SZ have 22q11.2 deletions. Thus, targeted approaches detailing specific
brain dysfunction in 22q11DS may elucidate critical neural mechanisms in psychosis. Specifically, approaches
that capture abnormalities common to individuals at-risk for psychosis and with a genetic risk to psychosis,
such as 22q11DS, may help explain risk and resilience for psychosis. Minor physical anomalies (MPAs) are
phenotypic abnormalities of aberrant development. MPAs include subtle abnormalities of morphological
structures encompassing numerous body parts including eyes, ears, mouth and head. Abnormalities of the
face and head likely represent a disruption of early embryologic development, including the olfactory system
and facial morphology, making these promising entry points for understanding neurodevelopmental
neuropathology associated with 22q11DS and psychosis In this study, we seek to compare 1) measures of
olfactory function; 2) structural abnormalities of the olfactory system and 3) structural abnormalities of the face
in a large cohort of patients with 22q11DS (n=100), including those with and without psychosis, to typically
developing (TD) individual. Finally, we will employ machine learning algorithms to select features that best
differentiate 22q11DS+ from 22q11DS- and use those features to classify individual with idiopathic risk for
psychosis (PS). In addition, analyses will leverage recent advances in machine learning to predict salient
features associated with dimensional measures of psychosis. We believe this innovative approach can
significantly advance our understanding of the etiology of psychosis and provide advances to precision
medicine in psychiatry. Through the proposed multi-level analysis, this innovative research will provide a
substantial advance in our understanding of the neurodevelopmental substrates of psychosis.

## Key facts

- **NIH application ID:** 10023944
- **Project number:** 5R01MH119185-02
- **Recipient organization:** UNIVERSITY OF PENNSYLVANIA
- **Principal Investigator:** PAUL J MOBERG
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $740,401
- **Award type:** 5
- **Project period:** 2019-09-24 → 2024-07-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10023944

## Citation

> US National Institutes of Health, RePORTER application 10023944, Olfactory and facial markers of developmental risk for psychosis in 22q11 deletion syndrome (5R01MH119185-02). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10023944. Licensed CC0.

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