Understanding the patient experience of Classic Galactosemia in pediatric and adult patients: increased disease burden, challenges with daily living, and how they evolve over time.

BACKGROUND: Classic Galactosemia (CG) is a rare, autosomal recessive condition. Newborn screening and a timely galactose-restricted diet can resolve acute symptoms and decrease fatalities, but significant chronic, progressive morbidities remain and significantly impact daily life. The objective of this study was to better understand the burden of disease in children and adults with CGs and describe how morbidities evolve over time. METHODS: A total of 49 individuals with CG from the United States (US) were included in the qualitative surveys (13 adults [9 self-reported] and 36 pediatric patients). Fifteen follow-up interviews were conducted with 5 adults and 10 caregivers, discussing 17 individuals with CG overall (2 caregivers each discussed 2 children). RESULTS: Qualitative survey and interview data demonstrated the substantial burden of CG. Difficulties in a wide range of functions were experienced, which included: speech articulation; language and communication; cognition, memory and learning; emotions; and social interactions. Most difficulties appeared in childhood and persisted or worsened with age. Most adults did not live independently. Others lived semi-independently and experienced many daily challenges and required support. Caregivers also described the burden of caring for someone with CG and spoke about the impact this has on their day-to-day life, work, and relationships. CONCLUSIONS: These findings demonstrate the pronounced and persistent burden of disease encountered by individuals with CG, and that the condition has a significant impact on the quality of life of caregivers.

Qualitative interviews with adults with Classic Galactosemia and their caregivers: disease burden and challenges with daily living.

BACKGROUND: Classic Galactosemia is a rare, autosomal recessive disease in which galactose is not metabolized properly due to severe deficiency/absence of the galactose-1-phosphate uridylyltransferase (GALT) enzyme, converting to an aberrant and toxic metabolite, galactitol. Newborn screening and timely galactose-restricted diet can resolve acute symptoms and decrease fatalities. However, despite this, significant chronic, progressive morbidities remain which have a real impact upon daily life. To better understand the burden of disease, 20 in-depth qualitative interviews were undertaken with adult patients (n = 12), and their caregivers (n = 8), enrolled in the ACTION-Galactosemia trial, part of a clinical program designed to investigate the safety and efficacy of AT-007 (govorestat) in reducing toxic galactitol and long-term clinical outcomes in Classic Galactosemia. RESULTS: Interviews revealed the substantial burden of Classic Galactosemia on patients and families. Most adults were not able to live independently, and all required support with day-to-day activities. Short- and long-term memory difficulties and tremors were identified as the most frequently experienced and challenging symptoms. Other difficulties such as fine motor skills and slow/slurred speech contribute to the significant impact on daily activities, affecting ability to communicate and interact with others. Symptoms were first noticed in early childhood and worsened with age. Classic Galactosemia impacted all areas of daily functioning and quality of life, leading to social isolation, anxiety, anger/frustration and depression. This demonstrates the significant burden of disease and challenges associated with Classic Galactosemia. CONCLUSIONS: The impact on both patients and caregivers underscores the severity of the unmet medical need and the importance of pharmacological intervention to halt or prevent disease progression. Any treatment that could reduce symptoms or slow functional decline would ease the burden of this condition on patients and caregivers.

Parent Food-Related Behaviors and Family-Based Dietary and Activity Environments: Associations with BMI z-Scores in Low-Income Preschoolers.

Background: In early childhood, the family dietary and activity environment and parent food-related practices have been found to be important predictors of children's weight. However, few studies account for both of these factors, or the interaction between the 2, when assessing BMI in early childhood. This study aims to examine the association between the family-based dietary and activity environment (including intake, physical activity, and structure) and children's BMI z-scores in the context of parent food-related behaviors in low-income families during the preschool years. Methods: Parents (n = 111) completed questionnaires assessing the family-based dietary and activity environment, including diet, physical activity, screentime and sleep, and their use of parent food-related behaviors including parent-centered (i.e., controlling) and child-centered (i.e., autonomy supportive) practices. Children's BMI z-scores were calculated from researcher-measured height and weight. Results: Parent-centered food-related behaviors were directly related to children's BMI z-scores and moderated the association between the family-based dietary and activity environment and children's BMI z-scores. Family-based behaviors were associated with lower BMI only when parents used fewer parent-centered behaviors. Conclusions: Findings indicate that programs working with low-income families to prevent child obesity should stress both the creation of a healthy home environment and the use of positive parent food-related behaviors with preschool aged children.

My Child at mealtime parent self-assessment of food related behaviors: Validation with mealtime behaviors.

My Child at Mealtime (MCMT) is a visually enhanced, self-assessment tool designed to measure parent food related behaviors of low-income caregivers of preschool-aged children. The current study examined the factor structure of MCMT and the correspondence between MCMT parent- and child-centered food related behaviors with observed behaviors during a mealtime with their preschool aged child. Caregivers (N = 175) completed MCMT, and a subsample (n = 60) had a mealtime videotaped in their home. Exploratory and confirmatory factor analysis supported a two-factor structure resulting in parent-centered and child-centered MCMT subscales. There was a significant association between parent-centered MCMT scores and observed parent-centered behaviors at mealtime. Behavioral correspondence of MCMT child-centered behaviors was generally weaker. Overall, the findings suggest that caregivers' MCMT responses provide a valid measure of parent food related behaviors.

Assessment of an e-training tool for college students to improve accuracy and reduce effort associated with reading nutrition labels.

Objective: Nutrition labels are often underutilized due to the time and effort required to read them. We investigated the impact of label-reading training on effort, as well as accuracy and motivation. Participants: Eighty college students (21 men and 59 women). Methods: The training consisted of a background tutorial on nutrition followed by three blocks of practice reading labels to decide which of two foods was the relatively better choice. Label-reading effort was assessed using an eye tracker and motivation was assessed using a 6-item scale of healthy food-choice empowerment. Results: Students showed increases in label-reading accuracy, decreases in label-reading effort, and increases in empowerment. Conclusions: The nutrition label e-training tool presented here, whether used alone or as part of other wellness and health programs, may be an effective way to boost students' label-reading skills and healthy food choices, before they settle into grocery shopping habits.

Sources of Information and Support for Breastfeeding: Alignment with Centers for Disease Control and Prevention Strategies.

BACKGROUND AND OBJECTIVES: Research consistently supports health benefits of breastfeeding; however, rates in the United States remain below Healthy People 2020 goals. To increase breastfeeding, information and support are needed from multiple sources. Given differences in breastfeeding rates by demographic characteristics, sources of information and support may also differ. In addition, recent research suggests potential differences in health outcomes related to feeding method (direct breastfeeding only, feeding expressed human milk, combination-feeding with formula). This study examined (1) information and support received within Centers for Disease Control and Prevention (CDC)-defined strategies for supporting breastfeeding mothers, (2) differences in rates of information and support received by demographics, and (3) associations with feeding method at 6 weeks postpartum. MATERIALS AND METHODS: A sample of 447 women participating in the Synergistic Theory Research Obesity and Nutrition Group (STRONG) Kids 2 study completed surveys with questions from the CDC Survey on Infant Feeding Practices II related to sources of information and support for breastfeeding and breast pump use, and about demographics and feeding method at 6 weeks postpartum. RESULTS: Frequencies of supports received within each category indicate that professional supports were the most pervasive, followed by support from friends and relatives. However, women at greater risk for breastfeeding cessation (lower education, Women, Infants, and Children participants, single mothers) received information and support at lower rates. Education and information support was the only source significantly associated with feeding method. CONCLUSION: New approaches are needed to increase efficacy of information delivery, especially for at-risk populations, to better meet CDC recommendations.