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.  </p

Additional file 1: of Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies

Quality parameters and description of all mutations analyzed with Illumina VeraCode GoldenGate assay. (DOCX 69 kb

Additional file 2: of The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population

Dataset of the group of affected individuals (DEAFGEN project). (PDF 191 kb