Introduction: Prader-Willi Syndrome (PWS) is one of the rare diseases involving genetics and affects various body systems. The disease is known due to the absence of paternal genes on chromosome 15q11-q13. Multisystem complex conditions require interdisciplinary healthcare treatment. However, to the best of our knowledge, there is little evidence of an established successful model of an interdisciplinary approach in managing rare diseases like PWS.
Methods and analysis: The scoping review process follows the five-staged Arksey and O'Malley (2005) methodology framework excluding the optional consultation stage (stage 6): the definition of the research questions (step 1); the eligibility criteria and search strategy are defined (stage 2); the study selection process based on the eligibility criteria identified will follow (stage 3); a framework developed for this review will then inform the extraction and charting of data from the included studies (step 4) and results will be aggregated and summarised with criteria relevant for health professionals and policymakers (stage 5). We will search for electronic databases (MEDLINE/PubMed, Scopus, Web of Science), grey literature sources and critical studies' reference lists to determine the appropriate inclusion criteria. Three researchers will review all abstracts and full-text studies for inclusion.
Ethics and dissemination: This scoping review methodology does not require ethical approval since it aims to synthesise information from available publications. A scoping review article will be submitted for publication to a scientific journal following this protocol.
Keywords: nutrition & dietetics; paediatric clinical genetics & dysmorphology; paediatric endocrinology; protocols & guidelines; quality in health care.
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