Down syndrome (DS) is a complex condition associated with multiple medical, developmental, and behavioral concerns. A prospective, longitudinal clinical database was integrated into a specialty Down Syndrome Program, with the goals of better understanding the incidence, course, and impact of co-occurring medical, neurodevelopmental, and mental health conditions in DS. We describe the process of developing the database, including a systematic approach to data collection and database infrastructure, and report on feasibility, challenges, and solutions of initial implementation. Between March 2018 and November 2021, data from 842 patients (ages 4.8 months to 26 years) was collected. Challenges included caregiver form completion as well as time and personnel required for successful implementation. With full integration into clinical visit flow, the database proved to be feasible. The database enables identification of patterns of development and health throughout the lifespan and it facilitates future data sharing and collaborative research to advance care.
The 28-feature definition of unexplained regression proposed by the regression working group of the Down syndrome Medical Interest Group (Santoro et al. 2020) was used to screen the 14 unexplained regression in Down syndrome cases seen at the Boston Children's Hospital Down Syndrome Program. YES indicates the presence of a co-occurring medical, mental health, or neurodevelopmental disorder; O indicates its absence/insufficient documentation in clinical note. Transition/change, trauma/loss/grief, puberty, and illness/hospitalization were all included if they caused emotional distress in the past year of regression diagnosis. ADL, activities of daily living; ASD/DSDD, autism spectrum disorder/Down syndrome disintegrative disorder; EEG, electroencephalogram; PSG, polysomnogram; PTSD, post-traumatic stress disorder; SIB, self-injurious behavior. *Five individuals were included in analyses but not described in the current article but available in the supplemental material. Patient initials were changed to preserve anonymity.
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