Project Summary/Abstract This proposal is responsive to NOT-OD-22-137: Availability of Administrative Supplements for the INCLUDE (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE) Project. We aim to address Component 2: “Assembly of a large cohort of individuals with Down syndrome across the lifespan to perform deep phenotyping and study co-existing conditions.” We will build upon our large study of 2.3 million Taiwanese births, in which we are investigating maternal pharmaceutical intake in pregnancy and associations with childhood cancer; Aims of the parent study will not change. In the US, the population prevalence of Down syndrome (DS) is 250,000 persons, and 6000 children with DS are born in the US each year. Children with Down syndrome have a substantially increased risk for leukemia, and elevated risk for a number of other conditions. The proposed study will utilize data from a large cohort of Taiwanese children to examine comorbid conditions in children with Down syndrome. Participants in our study include all children born in Taiwan 2004-2015. Down syndrome and other diagnoses will be ascertained from the National Health Insurance Database in Taiwan. Results will be confirmed in a large cohort of Danish children. The goals of this project are to better understand comorbidities in Down syndrome to improve screening guidelines and management of patient care.

Project Narrative In the US, the population prevalence of Down syndrome is 250,000 persons, and 6000 children with Down syndrome are born in the US each year; these numbers are expected to rise with greater abortion restrictions. With increasing prevalence and longer lifespans of individuals with DS, it is vital to understand common comorbidities across the lifespan for more appropriate screening practices, improved utilization of health care resources, tailored medical care guidelines, and improved management of care. Herein we propose to utilize large national databases to examine the prevalence and risk of comorbid conditions in Down syndrome, with adjustment for potential confounding variables such as maternal age.