Consensus recommendations on chewing, swallowing and gastrointestinal  problems in Phelan-McDermid syndrome

Gastrointestinal (GI) problems are common in Phelan-McDermid syndrome (PMS). Chewing and swallowing  difficulties, dental problems, reflux disease, cyclic vomiting, constipation, incontinence, diarrhoea, and nutritional deficiencies have been most frequently reported. Therefore, this review summarises current findings on GI  problems and addresses the fundamental questions, which were based on parental surveys, of how frequent GI  problems occur in PMS, what GI problems occur, what consequences (e.g., nutritional deficiencies) GI problems  cause for individuals with PMS, and how GI problems can be treated in individuals with PMS. Our findings show  that gastrointestinal problems have a detrimental effect on the health of people with PMS and are a significant  burden for their families. Therefore, we advise evaluation for these problems and formulate care  recommendations.