All-cause mortality and survival in adults with 22q11.2 deletion syndrome |
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| Institution: | 1. Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada;2. Department of Psychiatry, University of Toronto, Toronto, ON, Canada;3. The Dalglish Family 22q Clinic, Toronto General Hospital, University Health Network, Toronto, ON, Canada;4. Unit of Clinical Epidemiology, Memorial University of Newfoundland, St. Johns, NL, Canada;5. Toronto Congenital Cardiac Centre for Adults, and Division of Cardiology, Department of Medicine, University Health Network, Toronto, ON, Canada;6. Toronto General Research Institute and Campbell Family Mental Health Research Institute, Toronto, ON, Canada;1. Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada;2. Department of Psychiatry, University of Toronto, Toronto, ON, Canada;3. The Dalglish Family 22q Clinic, Toronto General Hospital, University Health Network, Toronto, ON, Canada;4. Unit of Clinical Epidemiology, Memorial University of Newfoundland, St. Johns, NL, Canada;5. Toronto Congenital Cardiac Centre for Adults, and Division of Cardiology, Department of Medicine, University Health Network, Toronto, ON, Canada;6. Toronto General Research Institute and Campbell Family Mental Health Research Institute, Toronto, ON, Canada |
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| Abstract: | PurposeGiven limited data available on long-term outcomes in 22q11.2 deletion syndrome (22q11.2DS), we investigated mortality risk in adults with this microdeletion syndrome.MethodsWe studied 309 well-characterized adults (age ≥17 years) with 22q11.2DS and their 1014 unaffected parents and siblings, using a prospective case–control design. We used Cox proportional hazards regression modeling and Kaplan–Meier curves to investigate effects of the 22q11.2 deletion and its associated features on all-cause mortality and survival.ResultsThe 22q11.2 deletion (hazard ratio HR] 8.86, 95% CI 2.87–27.37) and major congenital heart disease (CHD; HR 5.03, 95% CI 2.27–11.17), but not intellectual disability or psychotic illness, were significant independent predictors of mortality for adults with 22q11.2DS compared with their siblings. Amongst those with 22q11.2DS, there were 31 deaths that occurred at a median age of 46.4 (range 18.1–68.6) years; a substantial minority had outlived both parents. Probability of survival to age 45 years was approximately 72% for those with major CHD, and 95% for those with no major CHD (p < 0.0001).ConclusionFor adults with 22q11.2DS, the 22q11.2 deletion and more severe forms of CHD both contribute to a lower life expectancy than family-based expectations. The results have implications for genetic counseling and anticipatory care. |
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