Acute and early developmental outcomes of children with Duarte galactosemia

• Authors: Judith Fridovich-Keil, Emory University; Grace Carlock, Emory University; Sneh Patel, Emory University; Nancy L Potter, Washington State University Spokane; Claire Coles, Emory University
• Journal Title: JIMD Reports
• Volume: Volume 63, Number 1
• Publisher: Wiley | 2022-01-01, Pages 101-106
• Type of Work: Article | Final Publisher PDF
• Publisher DOI: http://doi.org/10.1002/jmd2.12267
• Subjects: Health Sciences, Mental Health; Health Sciences, Medicine and Surgery
• Keywords: Duarte galactosemia; acute outcomes; early development; early intervention

Abstract

A recent study demonstrated that children with Duarte galactosemia (DG) do not show increased prevalence of detectable developmental complications when 6–12 years old. However, that study left unanswered whether infants with DG might be at increased risk for acute problems when drinking milk or whether children with DG younger than 6 years might show increased prevalence of perhaps transient developmental challenges. Here, we have addressed both of these questions by analyzing parent/guardian-reported data collected retrospectively for 350 children, 206 with DG and 144 unaffected siblings from the same families. The variables analyzed included whether each child had experienced (1) acute complications in infancy, (2) early intervention services when <3 years old, and/or (3) special educational services when 3–5 years old. For each case–control comparison, or case-by-diet comparison, we used logistic regression that included the following potential covariates: age, sex, race, family income, and parent education, as appropriate. We found that none of the three outcome variables tested showed significant differences between cases and controls, or among cases as a function of galactose exposure in infancy. To the limits of our study, we therefore conclude that regardless of whether a child with DG drinks milk or low-galactose formula as an infant, they are not at increased risk for acute complications or early childhood developmental challenges that require intervention.