Developmental Outcomes of School-Age Children with Duarte Galactosemia: A Pilot Study

Abstract

Duarte galactosemia (DG) is a mild allelic variant of classic galactosemia that results from partial impairment of galactose-1P uridylyltransferase (GALT). Although infants with DG are detected by newborn screening in some US states at close to 1/4,000 live births, most are discharged from follow-up very early in life and there is no consensus on whether these children are at increased risk for any of the long-term developmental delays seen in classic galactosemia. There is also no consensus on whether infants with DG benefit from dietary restriction of galactose. Reflecting the current uncertainty, some states choose to identify infants with DG by newborn screening and others do not. As a first step toward characterizing the developmental outcomes of school-age children with DG, we conducted a pilot study, testing 10 children with DG and 5 unaffected siblings from the same group of families. All children tested were between 6 and 11 years old. We used standardized direct assessments and parent-response surveys to collect information regarding cognition, communication, socio-emotional, adaptive behavior, and physical development for each child. Despite the small sample size, our data demonstrated some notable differences between cases and controls in socio-emotional development, in delayed recall, and in auditory processing speed. These results confirm that direct assessment of school-age children with DG can detect subtle but potentially problematic developmental deficits, and underscore the need for a larger study which has sufficient power to evaluate these outcomes while controlling for potentially confounding factors.

Competing interests: None declared

Appendices

1-Sentence Synopsis

Direct assessment revealed a number of subtle but concerning developmental deficits among a cohort of 10 school-age children with Duarte galactosemia.

Compliance with Ethical Guidelines

Conflict of Interest

Mary Ellen Lynch declares that she has no conflict of interest.

Nancy Potter declares that she has no conflict of interest.

Claire Coles declares that she has no conflict of interest.

Judith Fridovich-Keil declares that she has no conflict of interest.

Informed Consent

"All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5)."

All data from specific individuals reported here were collected following appropriate informed consent and with approval by the Emory University Institutional Review Board (IRB# 00024933, PI: Fridovich-Keil and IRB#00062977, PI: Lynch).

Animal Rights

"This article does not contain any studies with animal subjects performed by any of the authors."

Contributions of Each Author

Mary Ellen Lynch coordinated the pilot study described in this manuscript including IRB requirements, recruitment, and scheduling; served a lead role in assembling and analyzing the data presented; and helped write and edit the manuscript.

Nancy Potter served a lead role in data gathering during the pilot study and also helped to write and edit the manuscript.

Claire Coles helped coordinate the pilot study, served a lead role in data analysis and interpretation, and helped write and edit the manuscript.

Judith Fridovich-Keil initiated the project, coordinated the efforts of the other authors, conducted parent interviews during the pilot, and wrote most of the manuscript.