Pediatric patients with congenital heart disease and a genetic diagnosis may exhibit lower cognitive, language, and motor scores in early childhood compared with those without a genetic diagnosis.
In a cross-sectional analysis, investigators analyzed 942 neurodevelopmental assessments from 868 pediatric patients younger than 30 months enrolled in the Cardiac Neurodevelopmental Outcome Collaborative registry, with linkage to the Pediatric Cardiac Critical Care Consortium registry. All of the patients underwent cardiac surgical repair or palliation requiring cardiopulmonary bypass during the first year of life. Neurodevelopmental outcomes were assessed using the Bayley Scales of Infant and Toddler Development–III/4.
Among the participants, nearly 12% (n = 102) of them had a genetic diagnosis. The investigators found that the patients with a genetic diagnosis scored more than 15 points lower across cognitive, language, and motor domains compared with the patients without a genetic diagnosis. The lowest scores were observed among patients with trisomy 21, followed by those with 22q11.2 deletion syndrome and other genetic diagnoses.
Because of the strong association between genetic diagnoses and neurodevelopmental outcomes, the investigators performed subsequent multivariable analyses among the 766 patients without a known genetic diagnosis. In the analyses, cardiac diagnosis remained associated with cognitive and motor outcomes. The patients with dextro-transposition of the great arteries had the highest scores across developmental domains, with mean cognitive, language, and motor scores of 98.2, 94.4, and 96.8, respectively. Other diagnostic groups, including coarctation of the aorta, ventricular septal defect, tetralogy of Fallot, single-ventricle physiology, and atrioventricular septal defect generally had lower scores; however, the adjusted mean scores remained within the normal range.
The investigators also identified several clinical factors associated with lower developmental scores. Lower birth weight, male sex, older age at first surgery, longer postoperative hospital length of stay, and greater number of cardiac catheterizations were independently associated with lower cognitive, language, and motor performance.
Social factors were also associated with early neurodevelopmental outcomes. Lower primary caregiver educational attainment was correlated with lower scores across the neurodevelopmental domains. The largest difference was observed in language scores, with participants whose primary caregiver had a graduate degree scoring 15 points and nearly 10 points higher compared with those whose caregiver had no college degree or a college degree, respectively. Lower Child Opportunity Index scores were associated with lower cognitive scores.
The study has several limitations. The cross-sectional design precluded the investigators from establishing causality. Registry-based data may be affected by site-to-site variation and missing information. Selection bias is also possible because just 29% of the eligible patients attended neurodevelopmental follow-up, and attendance was associated with several clinical and socioeconomic characteristics. In addition, some patients categorized as not having a genetic diagnosis may have had undetected genetic conditions.
The findings suggested that neurodevelopmental outcomes among patients with congenital heart disease could be associated with a combination of genetic, medical, and social factors.
“The heterogeneous outcomes found in this study reinforce the importance of surveillance for all infants undergoing heart surgery in the first year of life,” wrote lead study author Mike Seed, MBBS, of Division of Cardiology in the Department of Paediatrics at the Hospital for Sick Children at the University of Toronto, and colleagues.
Full disclosures of the study authors can be found in the study.
Source: JAMA Network Open
