Developmental Outcomes of School-Age Children with Duarte Galactosemia: An Interim Analysis Público

Hodson, Erin (2017)

Permanent URL: https://etd.library.emory.edu/concern/etds/9g54xj49r?locale=es
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Abstract

Background: Duarte galactosemia is a genetic disorder characterized by partial impairment of galactose-1-phosphate uridylyltransferase (GALT). This enzyme is critical for metabolism of galactose, a sugar abundant in milk. Children with Duarte galactosemia are commonly detected by newborn screening programs aiming to identify infants with the more serious, potentially fatal classic galactosemia. Patients with classic galactosemia require immediate treatment with a galactose-free diet to prevent severe acute complications, but experience increased risk of long-term health effects even with dietary restriction. The proper treatment and long-term prognosis associated with Duarte galactosemia are much more controversial. No consensus exists in regards to whether newborn screening programs should seek to detect infants with Duarte galactosemia, and when cases do come to light, recommendations issued to parents differ drastically depending on state and clinician. The current study is thus centered on two primary aims: 1) to determine whether children with Duarte galactosemia are at increased risk for the developmental delays seen in classic galactosemia patients and 2) to determine whether children with Duarte galactosemia benefit from dietary restriction of galactose during infancy.

Methods: Relevant developmental measures were compared in 90 cases with Duarte galactosemia and 63 of their unaffected siblings, all between the ages of 6 and 12 years. Performance in a range of domains was evaluated using a combination of parental surveys and direct child assessment by trained professionals using validated instruments.

Results: No significant differences were detected in cases as compared with controls in any of the developmental outcomes included in the analysis. Amongst cases, there was no association between assessed development and whether or not the child experienced galactose restriction early in life.

Discussion: The evidence presented here suggests the prognosis for children with Duarte galactosemia is good, with or without dietary intervention. There was no indication that Duarte galactosemia patients experienced any of the same long-term outcomes known to affect those with classic galactosemia. If the cumulative results support the same conclusions, public officials would be well positioned to redirect funds away from identifying and treating this condition and towards efforts with demonstrated potential for improving health.

Table of Contents

Table of Contents

Background. 1

Introduction. 12

Methods. 14

Study Participants. 14

Procedures. 15

Outcome Measures. 16

Cognitive Skills. 17

Communication Processes. 19

Physical Development 20

Socio-emotional Development 22

Response to Sensory Stimuli 23

Analyses of Data. 24

Results. 28

Demographics and Family Information. 28

Exposure to Prenatal and Neonatal Risk Factors. 29

Experience with Special Education Services. 30

Exposure to Dietary Galactose. 31

Cognitive Skills. 32

Communication Processes. 32

Physical Development 32

Socio-emotional Development 33

Response to Sensory Stimuli 33

Impact of Dietary Galactose Exposure on Developmental Outcomes. 34

Discussion. 35

References. 41

Tables. 44

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