Nutrients, Vol. 17, Pages 1909: An Assessment of Dietary Intake, Feeding Practices, Growth, and Swallowing Function in Young Children with Late-Onset Pompe Disease: A Framework for Developing Nutrition Guidelines
Nutrients doi: 10.3390/nu17111909
Authors:
Surekha Pendyal
Rebecca L. Koch
Harrison N. Jones
Priya S. Kishnani
Newborn screening (NBS) is leading to the diagnosis of a large number of children with late-onset Pompe disease (LOPD), yet many remain asymptomatic until later years. A high-protein, low-carbohydrate diet is recommended for adults with LOPD. Nutrition guidelines are not available for young children. Methods: 37 children with LOPD aged 1–6 years participated. Early diet history, feeding practices, and 24 h dietary intake were collected via questionnaire. Anthropometric measurements, blood creatine kinase (CK), blood urea nitrogen (BUN)/creatinine ratio, and urine glucose tetrasaccharide (Glc4) were collected at clinic visits. A subset of 19 children received a clinical feeding assessment (CFA). Results: All patients derived their nutrition orally. Breastfeeding was successfully initiated in 73% of infants. Body weight ranged between 3 and 99% and height ranged from 4 to 97%. A tendency to be overweight and obese was noted in older children with LOPD. A total of 24% of the children who had CFA were diagnosed with dysphagia that was typically mild in severity and rarely affected their ability to eat a normal diet. Limiting added sugar and processed foods was the most widely used dietary practice followed by encouraging protein. Protein intake was three–four times higher than the recommended dietary intake (RDA). A high BUN/creatinine ratio was observed in some children, which may indicate incompatibility with protein intake and need for individualizing the diet. Conclusions: The results of this study provide a framework for developing future nutrition guidelines for children with LOPD by performing an individualized assessment of dietary intake, growth, feeding/swallowing, and laboratory parameters.
Newborn screening (NBS) is leading to the diagnosis of a large number of children with late-onset Pompe disease (LOPD), yet many remain asymptomatic until later years. A high-protein, low-carbohydrate diet is recommended for adults with LOPD. Nutrition guidelines are not available for young children. Methods: 37 children with LOPD aged 1–6 years participated. Early diet history, feeding practices, and 24 h dietary intake were collected via questionnaire. Anthropometric measurements, blood creatine kinase (CK), blood urea nitrogen (BUN)/creatinine ratio, and urine glucose tetrasaccharide (Glc4) were collected at clinic visits. A subset of 19 children received a clinical feeding assessment (CFA). Results: All patients derived their nutrition orally. Breastfeeding was successfully initiated in 73% of infants. Body weight ranged between 3 and 99% and height ranged from 4 to 97%. A tendency to be overweight and obese was noted in older children with LOPD. A total of 24% of the children who had CFA were diagnosed with dysphagia that was typically mild in severity and rarely affected their ability to eat a normal diet. Limiting added sugar and processed foods was the most widely used dietary practice followed by encouraging protein. Protein intake was three–four times higher than the recommended dietary intake (RDA). A high BUN/creatinine ratio was observed in some children, which may indicate incompatibility with protein intake and need for individualizing the diet. Conclusions: The results of this study provide a framework for developing future nutrition guidelines for children with LOPD by performing an individualized assessment of dietary intake, growth, feeding/swallowing, and laboratory parameters. Read More