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Establishing a case definition of thiamine responsive disorders among infants and young children in Lao PDR: protocol
Sonja Y Hess1, Taryn J Smith2, Philip R Fischer3
1Department of Nutrition, Institute for Global Nutrition, University of California Davis, Davis, California, USA syhess@ucdavis.edu.
Insights
Diagnosing infantile thiamine deficiency disorders (TDD) is difficult. This study aims to define criteria for thiamine-responsive disorders (TRD) in children to improve diagnosis and treatment outcomes.
Area of Science:
- Pediatrics
- Nutritional Science
- Clinical Research
Background:
- Infantile thiamine deficiency disorders (TDD) present with non-specific and variable symptoms, complicating accurate diagnosis.
- Misdiagnosis of TDD can lead to delayed or inappropriate treatment, impacting child health outcomes.
Purpose of the Study:
- To develop a case definition for thiamine-responsive disorders (TRD) in hospitalized infants and young children.
- To identify clinical features and risk factors that predict a positive response to thiamine administration in children with suspected TDD.
Main Methods:
- Prospective enrollment of 662 children (21 days to <18 months) with TDD symptoms.
- Administration of thiamine (100 mg daily for ≥3 days) with comprehensive baseline and follow-up assessments, including physical exams, echocardiograms, and ultrasounds.
- Collection of maternal and infant data, including biomarkers, diet, and socio-demographics, for logistic regression analysis to predict TRD.
Main Results:
- Logistic regression models will be developed to identify predictors of TRD.
- Model performance will be validated using receiver operating characteristic curves and cross-validation.
- A community-based cohort will be used for comparison to evaluate risk factors.
Conclusions:
- Establishing a precise case definition for TRD will aid in timely and accurate diagnosis of infantile thiamine deficiency.
- Identifying key clinical features and risk factors will improve diagnostic accuracy and guide therapeutic interventions for TDD.
Introduction:
Diagnosis of infantile thiamine deficiency disorders (TDD) is challenging due to the non-specific, highly variable clinical presentation, often leading to misdiagnosis. Our primary objective is to develop a case definition for thiamine responsive disorders (TRD) to determine among hospitalised infants and young children, which clinical features and risk factors identify those who respond positively to thiamine administration.
Methods And Analysis:
This prospective study will enrol 662 children (aged 21 days to <18 months) seeking treatment for TDD symptoms. Children will be treated with intravenous or intramuscular thiamine (100 mg daily for a minimum of 3 days) alongside other interventions deemed appropriate. Baseline assessments, prior to thiamine administration, include a physical examination, echocardiogram and venous blood draw for the determination of thiamine biomarkers. Follow-up assessments include physical examinations (after 4, 8, 12, 24, 36, 48 and 72 hours), echocardiogram (after 24 and 48 hours) and one cranial ultrasound. During the hospital stay, maternal blood and breast-milk samples and diet, health, anthropometric and socio-demographic information will be collected for mother-child pairs. Using these data, a panel of expert paediatricians will determine TRD status for use as the dependent variable in logistic regression models. Models identifying predictors of TRD will be developed and validated for various scenarios. Clinical prediction model performance will be quantified by empirical area under the receiver operating characteristic curve, using resampling cross validation. A frequency-matched community-based cohort of mother-child pairs (n=265) will serve as comparison group for evaluation of potential risk factors for TRD.
Ethics And Dissemination:
Ethical approval has been obtained from The National Ethics Committee for Health Research, Ministry of Health, Lao PDR and the Institutional Review Board of the University of California Davis. The results will be disseminated via scientific articles, presentations and workshops with representatives of the Ministry of Health.
Trial Registration Number:
NCT03626337.
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