Evaluation of food neophobia and swallowing function in hereditary metabolic diseases undergoing dietary treatment

Hereditary metabolic diseases develop due to enzyme deficiency or insufficiency in metabolic pathways and are generally inherited in an autosomal recessive manner. Feeding refusal and chewing-swallowing problems are frequently observed in these diseases, which require lifelong dietary treatment. However, there is insufficient research on this topic in the literature. This study evaluates food refusal and swallowing function in hereditary metabolic diseases managed with dietary treatment. A total of 49 children aged 2–6 years, diagnosed with carbohydrate (30.6%) and protein (69.4%) metabolism disorders, were included in the study. A survey was conducted to determine the patients' sociodemographic characteristics, nutritional habits, and eating behaviors, and anthropometric measurements were taken. The STRONGkids screening tool was used to assess malnutrition, the Pedi-EAT-10 Scale was applied for swallowing evaluation, and the Food Refusal Scale was used to assess food refusal. According to the STRONGkids screening results, 85.7% of the patients were found to be at moderate risk of malnutrition, while 14.3% were at high risk. It was determined that as the patients' body weight z-score decreased, the risk of malnutrition increased (p<0.05). A significant association was observed between carbohydrate and protein metabolism disorders regarding the timing of complementary feeding initiation, the number of daily snacks, the form in which foods were consumed, and the families' perspectives on their children's feeding process (p<0.05). It was found that children with carbohydrate metabolism disorders started complementary feeding earlier, had a higher number of daily snacks, and consumed food in a puréed form more frequently than those with protein metabolism disorders. Additionally, the anxiety levels of families regarding their children's feeding process were significantly higher in carbohydrate metabolism disorders than in protein metabolism disorders. A significant relationship was found between Pedi-EAT 10 scale scores and patient diagnoses, with carbohydrate metabolism disorder patients having higher Pedi-EAT 10 scores (p<0.05). Moreover, a significant association was identified between Pedi-EAT 10 scores and factors such as initiating complementary feeding before six months, meal duration exceeding 30 minutes, total daily feeding time exceeding six hours, and experiencing difficulty during feeding (p<0.05). In the presence of these factors, Pedi-EAT 10 scores were found to be higher. The results of the Food Refusal Scale were significantly associated with the timing of complementary feeding initiation, meal duration, and families' perspectives on their children's feeding (p<0.05). Children who started complementary feeding earlier had lower food refusal scores, whereas prolonged meal duration was associated with higher food refusal scores. Additionally, families who expressed higher levels of concern regarding their children's feeding had higher food refusal scores. Within the scope of this study, the families' perspectives on the feeding process were analyzed, and it was found that mealtimes were stressful for families of children experiencing food refusal, and they experienced significant anxiety about their child's nutrition. Pedi-EAT 10 and Food Refusal Scale scores were identified as significant indicators in determining high malnutrition risk using the STRONGkids screening tool (p<0.05). It has been observed that when Pedi-EAT-10 scores increase by 1 unit, the risk of high malnutrition increases by 12.5%; when selectivity scores increase by 1 unit, the risk of high malnutrition increases by 24.1%; and when neophobia scores increase by 1 unit, the risk of high malnutrition increases by 43.0%. It was determined that food refusal and swallowing disorders may affect food intake, leading to malnutrition and growth retardation. It is thought that using multidimensional parameters in the evaluation of hereditary metabolic diseases may facilitate metabolic control and dietary adherence. Keywords: Metabolism-inborn errors, malnutrition, deglutition disorders, feeding behavior, diet therapy.