Disorders of Gut-Brain Interaction in Children With Down Syndrome

c 2023 The Korean Society of Neurogastroenterology and Motility J Neurogastroenterol Motil, Vol. 29 No. 1 January, 2023 www.jnmjournal.org Down syndrome is associated with multiple physical and psychiatric comorbidities caused by chromosomal abnormality. The incidence is around 1 in 600-700 live births worldwide and is not different according to race or nation. Because of multiple health problems including congenital heart disease, congenital gastrointestinal (GI) obstruction, hematologic or endocrine disorders and high susceptibility of infection, quality of life (QoL) of pediatric patients with Down syndrome and their caregivers is dependent on the severity of the comorbidities. According to the present article, besides the congenital abnormalities, disorders of gut-brain interaction (DGBIs) could also contribute the QoL of the patients and their caregivers. DGBIs, previously called functional gastrointestinal disorders (FGIDs) have been diagnosed using the Rome IV criteria. Rome IV criteria for symptom based diagnosis of FGIDs for child and adolescent have been reported previously. Due to the possibility of coexistence of other medical conditions that could result in GI symptoms, the application of the Rome IV criteria (21.2%) resulted in a significantly lower prevalence of FGIDs in children than the application of Rome III criteria (23.7%, P = 0.004). In a representative community sample, pediatric FGIDs were common (25.0%), with functional constipation being the most common FGID in children and adolescents (14.1%) among pediatric FGIDs. QoL assessed using PedsQL4.0 in pediatric patients with FGIDs in the representative community also decreased (71.69 vs 87.16, P < 0.001) as in the present study. Although the population composition in the representative community was not disclosed, subjects might be heterogeneous (n = 1255). They might have a small number of Down syndrome patients, considering the incidence of the chromosomal abnormality. The present study showed higher DGBIs prevalence in this homogenous population of Down syndrome (52.0%, aged 4-18 years) than the previous heterogeneous community population (25.0%, aged 4-18 years). Among FGIDs, pediatric Down syndrome patients most commonly struggled with functional constipation (36.0%) as in previous reports. GI changes occurred in 300 (49.0%) of 1207 patients with Down syndrome, excluding GI symptoms caused by congenital digestive tract malformations such as duodenal atresia, Hirschsprung disease, or imperforate anus. Chronic constipation was the most prevalent among various GI changes. Chronic constipation in Down syndrome is associated with hypotonia, short segment of Hirschsprung disease, hypothyroidism, celiac disease and mental JNM J Neurogastroenterol Motil, Vol. 29 No. 1 January, 2023 pISSN: 2093-0879 eISSN: 2093-0887 https://doi.org/10.5056/jnm22205 Editorial Journal of Neurogastroenterology and Motility