Co‐occurring conditions in Down syndrome: Findings from a clinical database

Abstract

Individuals with Down syndrome (DS) experience a range of medical and neurodevelopmental conditions, necessitating systematic study of their occurrence and impact on neurodevelopmental outcomes. We describe the prevalence and relationships of medical, neurodevelopmental (ND), and mental health (MH) conditions in children with DS. We created a prospective clinical database of individuals with DS, integrated into the workflow of a specialty Down Syndrome Program at a specialty pediatric referral hospital. Conditions were collected through caregiver‐ and clinician report at clinical visits (N = 599). We calculated frequencies of medical, ND, and MH conditions and then assessed the relationship between medical, ND, and MH conditions using frequencies and comparative statistics. The most frequent co‐occurring conditions were vision (72.5%), ear/hearing (71.0%), gastrointestinal (61.3%), respiratory (45.6%), and feeding (33.6%) problems, with variation in frequency by age. ND and MH conditions were reported in one quarter, most commonly autism spectrum disorder and attention‐deficit/hyperactivity disorder. Those with ND and MH conditions had greater frequency of medical conditions, with highest rates of vision, ear/hearing, and gastrointestinal issues, and CHD. Systematically collected clinical data in a large cohort of children with DS reveals high prevalence of several co‐occurring medical, ND, and MH conditions. Clinical care requires an understanding of the complex relationship between medical conditions and neurodevelopment.

Internalizing Psychiatric Symptoms in People with Mosaicism for Trisomy 21

“…Although these numbers do not represent diagnostic criteria, these findings are consistent with several study results finding elevated rates of depression and anxiety disorders in people from the larger Trisomy 21 population (e.g. mood disorders ranging from 5.0% - 15%, anxiety disorders ranging from 7 – 30% ( Baumer et al, 2023 ; Collacott et al, 1992 ; Mantry et al, 2007 ; Myers & Pueschel, 1991 ; Patti & Tsiouris, 2006 ; Raffaele et al, 2022 ; Rivelli et al, 2022 ; Vicari et al, 2016 ). The fact that the number of people scoring above the clinical cut-offs in this sample is substantially higher than reported diagnosed cases in other studies is to be expected.…”