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.
This project has received funding from the European Union's Horizon 2020 research and innovation programme under grant agreement N° 825575, EJP-RD.
PublicationEuropean Journal of Medical Genetics 66(6), 104763
Also affiliated with
- Bernal Institute
- Health Research Institute (HRI)
Department or School
- Biological Sciences