A binational study assessing risk and resilience factors in 22q11.2 deletion syndrome

Raquel E. Gur*, Lauren K. White, Shachar Shani, Ran Barzilay, Tyler M. Moore, Beverly S. Emanuel, Elaine H. Zackai, Donna M. McDonald-McGinn, Noam Matalon, Ronnie Weinberger, Ruben C. Gur, Doron Gothelf

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Background: The presentation of neurogenetic disorders such as 22q11.2 Deletion Syndrome (22q11.2DS) includes broad neuropsychiatric phenotypes that impact functioning and require assessment and treatment. Like in non-syndromal neuropsychiatric disorders, there is heterogeneity in symptom severity and illness course. The study of risk and resilience in the general population has benefited from measurement tools that parse heterogeneity and guide treatment. Suitability of such tools in neurogenetic disorders has not been examined and is essential to establish as prerequisite for examining whether similar processes modulate psychopathology in these populations. Method: We applied the Risk & Resilience Battery assessing intrapersonal, interpersonal, and environmental domains, to 80 patients with 22q11.2DS, 30 from Philadelphia, USA and 50 from Tel-Aviv, Israel. We also evaluated global functioning and obtained self-reports of anxiety and depression. We examined the Risk & Resilience Battery reliability for each factor and used partial correlations to examine relations between the Risk & Resilience Battery factors and clinical measures. Results: Across samples, items within each risk and resilience factor showed good to excellent internal consistency. Higher scores on peer victimization, emotion dysregulation, and hostile close relationships were related to reports of anxiety and depression. Higher levels of self-reliance related to lower anxiety while greater security in close relationships related to lower depression. Conclusion: The Risk & Resilience Battery can be applied to 22q11.2DS samples and advance Gene X Environment research and interventions.

Original languageEnglish
Pages (from-to)319-325
Number of pages7
JournalJournal of Psychiatric Research
StatePublished - Jun 2021


FundersFunder number
Dora Foundation
National Institutes of Health
National Institute of Mental HealthU01MH101722, K23MH120437, MH119738, U01MH101719
United States-Israel Binational Science Foundation2017369


    • 22q11.2 deletion syndrome
    • Neurogenetic disorders
    • Neuropsychiatric disorders
    • Risk & resilience
    • Stress vulnerability


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