Acute and early developmental outcomes of children with Duarte galactosemia

Judith L Fridovich-Keil1, Grace Carlock1, Sneh Patel2

  • 1Department of Human Genetics Emory University School of Medicine Atlanta Georgia USA.

JIMD Reports
|January 14, 2022
PubMed

Insights

Duarte galactosemia (DG) does not increase risks for infant complications or early developmental issues. Children with DG, regardless of milk consumption, show no increased need for early intervention or special education services.

Area of Science:

  • Genetics and Human Development
  • Metabolic Disorders
  • Pediatric Health

Background:

  • Previous research indicated no developmental complications in older children (6-12 years) with Duarte galactosemia (DG).
  • Uncertainty remained regarding potential infant acute complications and early childhood developmental challenges in younger children with DG.

Purpose of the Study:

  • To investigate if infants with DG face increased risks of acute problems when consuming milk.
  • To determine if children with DG under 6 years experience transient developmental challenges.

Main Methods:

  • Retrospective analysis of parent/guardian-reported data from 350 children (206 with DG, 144 controls).
  • Variables included infant acute complications, early intervention (<3 years), and special education (3-5 years).
  • Logistic regression analysis controlled for age, sex, race, income, and parent education.

Main Results:

  • No significant differences were found between DG cases and controls for any of the three outcome variables.
  • Galactose exposure in infancy did not correlate with different outcomes among DG cases.
  • The study found no increased prevalence of acute complications or early developmental challenges requiring intervention.

Conclusions:

  • Infants with Duarte galactosemia (DG) are not at increased risk for acute complications when drinking milk.
  • Children with DG younger than 6 years do not show increased prevalence of developmental challenges requiring intervention.
  • Dietary management (milk vs. low-galactose formula) in infancy does not alter these outcomes for children with DG.

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