Neurodevelopmental outcomes in children with Down syndrome and congenital heart defects

Abstract

Trisomy 21, the chromosomal condition responsible for Down syndrome (DS, OMIM #190685), is the most common identifiable genetic cause of intellectual disability. Approximately half of all children with DS are born with a significant congenital heart defect (CHD), the most common of which is an atrioventricular septal defect (AVSD). As children with comorbid DS and CHD increasingly survive cardiac surgery, characterization of their early developmental trajectories is critical for designing early interventions to maximize individual potential. Herein, the developmental domains (cognitive, language, and motor) of children with DS and AVSD (DS + AVSD, n=12) were compared to children with DS and a structurally normal heart (DS – CHD, n=17) using the Bayley Scales of Infant and Toddler Development III. The DS + AVSD cohort mean age was relatively the same as controls with DS – CHD, 14.5 ±7.3 months compared with 14.1 ± 8.4 months, respectively. Although the motor domain was the only domain that showed a statistically significant difference between groups (p < .05), both cognitive standard scores (p = 0.63) and language composite standard scores (p = 0.10) were lower in the DS + AVSD cases compared with the DS – CHD controls although it is not statistically significant. Since this is the first study to examine the early developmental outcomes of children with DS + AVSD, the findings may be useful for clinicians in providing anticipatory guidance.

Risk and Prevalence of Developmental Delay in Young Children With Congenital Heart Disease

“…This is consistent with previous findings in children with CHD in association with Down syndrome 23 and 22q11.2 deletion. 24 Greater use of genetic evaluation in the CHD population may be warranted, given the profound impact of a genetic diagnosis on all aspects of development.…”

Congenital heart disease and cardiac procedural outcomes in patients with trisomy 21 and Turner syndrome

“…T21 is associated with intellectual disability, from mild to severe, with language, expressive and receptive speech deficiencies. When comparing patients with T21 and CHD (T21‐CHD) who underwent surgical procedure that required cardiac bypass within the first year of life with T21 patients without CHD (T21‐nonCHD), T21‐CHD infants/toddlers had lower scores in expressive and receptive language and gross motor skills using the Bayley‐III test . T21‐CHD preschoolers had lower scores, but not statistically significant, for auditory communication, expressive communication, visual motor and fine motor compared with T21‐nonCHD group .…”

Outcome Measures for Clinical Trials in Down Syndrome

“…Common comorbid health conditions such as congenital heart defects and sleep apnea affect approximately half of individuals with DS (Shott, 2006). These health conditions have been shown to be important sources of within-syndrome variability in developmental outcomes and adaptation in this population (Breslin et al, 2014; Visootsak et al, 2011). Further, similar to individuals in the general population without IDD, individuals with DS are experiencing a dramatic extension of life expectancy (Yang, Rasmussen, & Friedman, 2002).…”