University of Limerick
Grabrucker_2023_Consensus.pdf (437.16 kB)

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

Download (437.16 kB)
journal contribution
posted on 2023-04-28, 07:50 authored by Ausra Matuleviciene, Kamile Siauryte, Els Kuiper, Andreas GrabruckerAndreas Grabrucker

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.



European Journal of Medical Genetics 66(6), 104763



Also affiliated with

  • Bernal Institute
  • Health Research Institute (HRI)

Department or School

  • Biological Sciences

Usage metrics

    University of Limerick