Cyclic vomiting and digestive symptoms in White–Sutton syndrome: a participatory study

Background White–Sutton syndrome is a neurodevelopmental condition with a high prevalence of gastrointestinal disorders (89%), including cyclic vomiting (21–37.5%). Our objective was to better characterize repeated vomiting, cyclic vomiting syndrome in particular, and other digestive symptoms by conducting a participatory study. Methods French White–Sutton Association members received a questionnaire to identify and describe repeated vomiting, constipation, feeding difficulties and gastroesophageal reflux. Families or physicians were contacted in the event of missing or unclear answers. Results 34 patients out of 46 participated in our study, of whom 59% presented with digestive symptoms. 35% (12/34) reported repeated vomiting and 9% (3/34) met Rome IV criteria for cyclic vomiting syndrome, with a significant quality of life impact. 35% (12/34) reported constipation (18% – 6/34 meeting Rome IV criteria for functional constipation), 29% (10/34) feeding difficulties and 29% (10/34) symptoms of gastroesophageal reflux disease. In 70% of cases, patients presented with more than one gastrointestinal disorder. Conclusions Our participatory study is the first focusing on gastrointestinal disorders. It allowed us to obtain very precise information about the digestive phenotype and its consequences for patients. Further studies are required to evaluate if a genotype–phenotype correlation exists.