Eric Rubenstein

Intellectual disability (ID) is a condition that impairs cognitive and adaptive functioning and occurs before adulthood. Approximately 1% of the U.S. population has ID (Durkin & Rubenstein, 2020). ...

Our objective was to describe how distance to specialty clinics and availability of primary care providers affects health and service use for adults with Down syndrome in the United States. We used 2019 data from a cohort of Medicaid enrollees ≥18 years with Down syndrome. We identified specialty clinics and mapped distance from individual’s zip codes. We created quantiles by distance and primary care provider density. Our cohort of 89,382 adults showed differences in health outcomes and costs by their geographic proximity to clinics and their access to primary care providers. After adjustment, mortality rates in Quartile III of distance to the specialty clinics were 1.16 times (95% CI: 1.00, 1.34) and Quartile IV was 1.27 times (95% CI: 1.08, 1.49) that of Quartile I. Hospitalization rates were quantitatively similar across groups. Ensuring equitable access to both primary and specialized care for adults with Down syndrome remains a significant challenge.

People with Down syndrome have higher age-specific mortality rates compared to the general population as well as peers with other intellectual and developmental disabilities. While a large proportion of mortality is attributable to Alzheimer’s disease, many die prior to Alzheimer’s diagnosis and some live to old ages, dying without Alzheimer’s. Our objectives were to use 11 years of Medicaid and Medicare data to describe characteristics and factors related to death in adults with Down syndrome and use machine learning to identify which conditions most strongly predict death in the full population and stratified by age. We identified death using Center for Medicare and Medicaid Systems reported date of death health conditions using ICD 9 and 10 codes. We used a case-control design with risk set sampling to have that controls to mimic the distribution of times of incident Alzheimer’s disease. We trained gradient boosted trees to identify strongest predictors. Our cohort included 137,293 adults with Down syndrome. Among those, 30,894 (22.5%) died during the study period. Mean age at death among those who died was 55 years (SD=10). Mean age of death in those with Alzheimer’s disease was 59 (SD=7) and those without was 52 (SD=12). The most influential predictors of mortality were any claim for dementia, any claim for pneumonia, re-occurring claim for cardiovascular disease three years before index death, and any claim for heart failure and epilepsy. Our results align with previous clinical work and highlight intervenable areas to reduce mortality in the Down syndrome population.

Background: Women with intellectual and developmental disability (IDD), including those with autism and/or intellectual disability, have historically been sterilised and institutionalised to limit their reproductive rights. As sterilisation laws have been repealed and protections against institutionalisation enacted, stigma persists but may be changing over time. Objectives: Our objective was to describe fertility rates among women with identified IDD (defined using ICD codes for intellectual disability or autism) using 11 years of data of all women aged 18–45 and enrolled in Medicaid and/or Medicare. Methods: We identified a cohort of women with IDD enrolled in Medicaid and/or Medicare between January 2011 and December 2022. International Classification of Diseases (ICD) 9 and 10 codes were used to identify pregnancies and IDD diagnoses. We calculated general fertility rate (GFR), age‐specific fertility rate (ASFR) and total fertility rate (TFR) and corresponding 95% confidence intervals (CI) for each year. Results: From 2011 to 2022, we observed 50,562 livebirths among 33,457 women. There were 38,983 births to women with intellectual disability, 9360 with autism, and 2219 with autism and co‐occurring intellectual disability. There were 1403 pregnancies to women with cerebral palsy and autism or intellectual disability. GFR in women with IDD was relatively stable over the years, from 9.3 per 1000 (95% CI 9.0, 9.6) in 2011 to 9.9 per 1000 (95% CI 9.6, 10.2) in 2022. ASFR for both women with autism—only and women with an intellectual disability—only was highest at 21–25 years. Total fertility rates were slightly higher for those with autism‐only (ranging from 0.22 to 0.40 across years) than for women with intellectual disability‐only (ranging from 0.25 to 0.27). Data also reveal that fertility rates for women with IDD have increased in most states. Conclusion: Trends in fertility rates among women with IDD were consistent over time. Incremental increase in fertility rates were observed among women with autism. Results warrant the need to further examine factors related to access, quality and continuity of care among women with IDD.

Background: Most adults with Down syndrome will develop Alzheimer's disease (AD) due to the triplication of the amyloid precursor protein in the 21 ^st chromosome. Predictors of condition onset are less known. Objective: We used Medicaid and Medicare data and machine learning to identify which co-occurring conditions predict incident AD in United States adults with Down syndrome. Methods: We examined adults with Down syndrome enrolled in Medicaid and/or Medicare between 2011 and 2019. We identified AD and other conditions using ICD 9 and 10 codes. We used a case-control design with risk set sampling to have that controls to mimic the distribution of times of incident AD. We trained gradient boosted trees to identify strongest predictors. Results: The cohort had a mean age at entry of 44.6 years, 46.2% were male, and 73.7% were white non-Hispanic. 16,398 had incident AD diagnoses over the study period. The machine learning model had an area under the curve of 0.86 and high positive predictive value. Strongest predictors of increased probability of AD were age, dual Medicaid/Medicare enrollment; incident epilepsy or incident ulcer three years before index date; any hypothyroidism, schizophrenia, or hyperlipidemia. We found synergistic interaction between epilepsy and enrollment by age. Conclusions: Predictors aligned with known predictors in the general population and characteristics that signal AD symptom onset. New onset epilepsy may be a relevant clinical sign. Identifying these predictors highlights areas for further etiologic inquiry and intervention.

Background: Co‐research methods have improved the inclusion of people with intellectual and developmental disabilities on research teams. This article presents the evaluation of the DS‐TO‐THE‐MAX Co‐Research Program to assess program process and outcomes. The team consists of co‐researchers with Down syndrome and academic researchers who collaborate on health research projects important to the Down syndrome community. Methods: We developed a logic model to map program components and outcomes. From the model, we identified and assessed five key areas. We interviewed seven co‐researchers with Down syndrome and conducted a focus group with research assistants based on key areas. We analysed using thematic analysis. Findings: We found that mutual recognition of contributions and multiple communication modes facilitated engagement and team connectedness. Co‐researchers reported their interests and experiences drove contributions, and they saw benefits from collaborating with each other. Co‐researchers noticed accessible team practices and described self‐advocating. Though co‐researchers did not explicitly identify as researchers, they reported making decisions and feeling heard and valued. They shared barriers such as difficult vocabulary. Conclusions: Our evaluation showed that relationships and co‐researchers' experiences and interests were central to research engagement. Co‐research team evaluations are feasible mechanisms to improve inclusive collaboration for research team members with intellectual and developmental disabilities.

Home and Community Based Services (HCBS) are Medicaid funded services that support independence, person-centered care, and connection to community for disabled people enrolled in Medicaid. With drastic Medicaid cuts on the horizon due to the 2025 Budget Reconciliation Bill, HCBS will likely be impacted. Our objective was to describe HCBS use by service type category among all adults enrolled in Medicaid with intellectual and developmental disabilities (IDD) diagnoses in 2022. We evaluated differences by state, IDD type, and race and ethnicity. We used Medicaid data from all adult enrollees with claims for autism, intellectual disability and Down syndrome and identified HCBS use using established algorithms. Of 1,519,852 adults with IDD, 63.1% (N=958,437) received any HCBS in 2022. The most used HCBS types were case management (32.5%), home based services (32.0%) and non-medical transportation (18.2%). There were limited differences by race and ethnicity, even after adjustment by state. With large Medicaid cuts forthcoming HCBS are optional services that are not mandated to be covered and a possible area for cuts that will disproportionately harm the IDD community.

Down syndrome is a condition caused by trisomy of chromosome 21 and is the most common genetic cause of intellectual disability. Due to distinct body and facial morphology, people with Down syndrome appear to be at increased risk for obstructive sleep apnea (OSA). Additionally, adults with Down syndrome are at increased risk for Alzheimer dementia at younger ages than the general population, and OSA has been identified as a risk factor for Alzheimer dementia in the general population. This study aims to explore the prevalence of diagnosed OSA, as well as the association between OSA and Alzheimer dementia, in adults with Down syndrome using Medicaid claims data from2011 to 2019. Of 118,539 adults with Down syndrome who met inclusion criteria, 23,785 had at least one OSA claim from2011 to 2019 (20.1%, 95% CI 19.8%–20.3%). After weighting for age, sex, dual enrollment, race, ethnicity, and region, adults with Down syndrome and OSA claims had 1.08 times the hazard of having a claim for Alzheimer dementia compared to those without OSA claims (95% CI 1.05–1.10). OSA is common in adults, and our findings have clinical implications for its evaluation and treatment in those with Down syndrome.