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Neurodevelopmental outcomes in children with Down syndrome and congenital heart defects

Jeannie Visootsak1, William T Mahle, Paul M Kirshbom

  • 1Department of Human Genetics, Emory University, Atlanta, Georgia, USA. Jvisoot@emory.edu

American Journal of Medical Genetics. Part A
|September 21, 2011
PubMed

Insights

Children with Down syndrome (DS) and congenital heart defects (CHD), specifically atrioventricular septal defects (AVSD), showed significant delays in motor development compared to those with DS but no heart issues. Early developmental trajectories in DS + AVSD require further investigation.

Area of Science:

  • Medical Genetics
  • Developmental Pediatrics
  • Pediatric Cardiology

Background:

  • Down syndrome (DS), caused by Trisomy 21, is the leading genetic cause of intellectual disability.
  • Congenital heart defects (CHD), particularly atrioventricular septal defects (AVSD), affect about half of children with DS.
  • Improved survival post-cardiac surgery necessitates understanding early development in DS with comorbid CHD.

Purpose of the Study:

  • To compare the early developmental trajectories of infants with DS and AVSD (DS + AVSD) to those with DS but no CHD (DS - CHD).
  • To identify potential differences in cognitive, language, and motor domains between these groups.

Main Methods:

  • Utilized the Bayley Scales of Infant and Toddler Development III for assessment.
  • Compared 12 infants with DS + AVSD against 17 infants with DS - CHD.
  • Analyzed developmental domains including cognitive, language, and motor skills.

Main Results:

  • The motor domain was the only area showing a statistically significant difference (P < 0.05) between the DS + AVSD and DS - CHD groups.
  • Cognitive standard scores (P = 0.63) and language composite scores (P = 0.10) were lower in the DS + AVSD group, though not statistically significant.
  • Mean ages of the cohorts were comparable (14.5 ± 7.3 months for DS + AVSD vs. 14.1 ± 8.4 months for DS - CHD).

Conclusions:

  • Infants with DS and AVSD may experience motor development delays compared to peers with DS but without CHD.
  • While not statistically significant in this cohort, trends suggest potential impacts on cognitive and language development.
  • These findings are crucial for clinicians providing anticipatory guidance for children with DS and comorbid congenital heart defects.

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