Recommended Citation
Chicoine B, Noah A, Rivelli A, Krohn L, Fitzpatrick V. Prevalence of Cancers Among 5,853 Patients With Down Syndrome. Presented at Scientific Day; May 21, 2025; Park Ridge, IL.
Abstract
Background/Significance:
Emerging research has indicated drastically different rates of cancer types in people with Down Syndrome (DS) compared to people without DS. Given the increased life expectancy of individuals with DS in recent decades, assessing risk of cancer is critical for screening guidelines and approaches to prevention and treatment to be tailored. Our healthcare system’s dedicated Adult Down Syndrome Center serves a large number of individuals with DS, providing a unique opportunity to assess prevalence of various cancer types among patients with DS.
Purpose:
We hypothesize that cancer prevalence looks different in people with DS compared to the people without DS. Unnecessary screening tests can be particularly detrimental for people with DS. Our goal for this research is to inform cancer screening recommendations specific to the DS population.
Methods:
We conducted a retrospective cohort study examining cancer prevalence among 5,853 individuals with DS who received care at a large Midwestern health system between May 1991–September 2019. In collaboration with a clinician and expert in the field, we identified 44 distinct cancer conditions using International Classification of Diseases (ICD)-10 codes and systematically extracted diagnoses coded from each patient’s electronic health records. We calculated individual cancer prevalence rates among our study population and summarized demographic information using percentages for categorical variables and means with standard deviation (SD) for continuous variables. All analyses were done using R version 4.4.
Results:
Our study population was largely non-Hispanic white (70%), with a mean age of 29.6 years (SD=18.9) and Medicare as their primary insurance provider (38%). Among the 44 cancer types examined, neoplasms of uncertain behavior/myelodysplastic syndromes were the most prevalent (2.29%), followed by lymphoid leukemia (0.53%), myeloid leukemia (0.51%), and benign neoplasms (0.41%). Notably, 18 (41%) cancer types occurred at a rate of less than 0.1%, and 13 (30%) cancer types had no reported cases within our study timeframe.
Conclusion:
Individuals with DS had a low prevalence of 44 cancer types assessed. Prevalence data should be included in review of cancer screening guidelines with consideration for modifying the guidelines for people with DS.
Presentation Notes
Presented at Scientific Day; May 21, 2025; Park Ridge, IL.
Full Text of Presentation
wf_yes
Document Type
Oral/Podium Presentation
Prevalence of Cancers Among 5,853 Patients With Down Syndrome
Background/Significance:
Emerging research has indicated drastically different rates of cancer types in people with Down Syndrome (DS) compared to people without DS. Given the increased life expectancy of individuals with DS in recent decades, assessing risk of cancer is critical for screening guidelines and approaches to prevention and treatment to be tailored. Our healthcare system’s dedicated Adult Down Syndrome Center serves a large number of individuals with DS, providing a unique opportunity to assess prevalence of various cancer types among patients with DS.
Purpose:
We hypothesize that cancer prevalence looks different in people with DS compared to the people without DS. Unnecessary screening tests can be particularly detrimental for people with DS. Our goal for this research is to inform cancer screening recommendations specific to the DS population.
Methods:
We conducted a retrospective cohort study examining cancer prevalence among 5,853 individuals with DS who received care at a large Midwestern health system between May 1991–September 2019. In collaboration with a clinician and expert in the field, we identified 44 distinct cancer conditions using International Classification of Diseases (ICD)-10 codes and systematically extracted diagnoses coded from each patient’s electronic health records. We calculated individual cancer prevalence rates among our study population and summarized demographic information using percentages for categorical variables and means with standard deviation (SD) for continuous variables. All analyses were done using R version 4.4.
Results:
Our study population was largely non-Hispanic white (70%), with a mean age of 29.6 years (SD=18.9) and Medicare as their primary insurance provider (38%). Among the 44 cancer types examined, neoplasms of uncertain behavior/myelodysplastic syndromes were the most prevalent (2.29%), followed by lymphoid leukemia (0.53%), myeloid leukemia (0.51%), and benign neoplasms (0.41%). Notably, 18 (41%) cancer types occurred at a rate of less than 0.1%, and 13 (30%) cancer types had no reported cases within our study timeframe.
Conclusion:
Individuals with DS had a low prevalence of 44 cancer types assessed. Prevalence data should be included in review of cancer screening guidelines with consideration for modifying the guidelines for people with DS.
Affiliations
Advocate Aurora Research Institute