Caregiver Perceived Barriers to Diagnosis and Care in Down Syndrome Regression Disorder

Down Syndrome Regression Disorder (DSRD) is a rare neuropsychiatric condition affecting individuals with Trisomy 21. Barriers to care for DSRD patients have not been studied. This research aimed to explore how demographic, socioeconomic, and geographic factors influence access to diagnosis, testing, and treatment for individuals with DSRD. A cross-sectional, online, REDCap survey was utilized to query caregivers of individuals with DSRD. Eligible caregivers answered questions regarding demographics, clinical features, and barriers to diagnosis and treatment. Statistical analysis was performed using R software, employing χ ², Mann-Whitney U, and Kruskal-Wallis H tests. A total of 397 participants were enrolled, most from the US (74%). Barriers to diagnosis (58.1%), treatment (52.6%), referral (52.0%), and testing (39.4%) were prevalent. Key barriers included physician unfamiliarity with DSRD and a lack of local specialists. Travel distances for diagnosis, testing, and treatment were significant, with 14.7% traveling over 500 miles for diagnosis and some requiring international travel. Factors influencing delays in diagnosis and treatment included household income, region, and demographic variables. Higher income was associated with shorter time to diagnosis (p = 0.004) and treatment (p < 0.001). Race, income, maternal education, and setting influenced delays in diagnosis. Delays in treatment were influenced by ethnicity, income, and location. This large international survey of caregivers of individuals with DSRD elucidates perceived barriers to accessing diagnosis, testing, and treatment, with demographic factors such as socioeconomic status and geography influencing these challenges. The directionality of these effects and their impact on clinical care and outcomes will be a logical basis for additional studies. Further studies are needed to explore these barriers in greater depth and assess their impact on healthcare outcomes.