Consensus guidelines on managing Rett syndrome across the lifespan
| Autor: | David N. Lieberman, Monica Coenraads, Shannon M. Standridge, Dallas Armstrong, Jana von Hehn, Kathleen J. Motil, Bernhard Suter, Katie Hale, Cary Fu, Daniel G. Glaze, Paige Nues, Rochelle Witt, Tristen Dinkel, Tim A. Benke, Eric D. Marsh, Jane B. Lane, Alan K. Percy, Mary Jones, Jeffrey L. Neul |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty medicine.medical_treatment Best practice gastroenterology Context (language use) Rett syndrome Subspecialty Pediatrics RJ1-570 rehabilitation 03 medical and health sciences 0302 clinical medicine Neurodevelopmental disorder medicine genetics Neurodisability Rehabilitation business.industry neurology syndrome medicine.disease Checklist 030104 developmental biology Family medicine Pediatrics Perinatology and Child Health Life expectancy business 030217 neurology & neurosurgery |
| Zdroj: | BMJ Paediatrics Open BMJ Paediatrics Open, Vol 4, Iss 1 (2020) |
| ISSN: | 2399-9772 |
| Popis: | BackgroundRett syndrome (RTT) is a severe neurodevelopmental disorder with complex medical comorbidities extending beyond the nervous system requiring the attention of health professionals. There is no peer-reviewed, consensus-based therapeutic guidance to care in RTT. The objective was to provide consensus on guidance of best practice for addressing these concerns.MethodsInformed by the literature and using a modified Delphi approach, a consensus process was used to develop guidance for care in RTT by health professionals.ResultsTypical RTT presents early in childhood in a clinically recognisable fashion. Multisystem comorbidities evolve throughout the lifespan requiring coordination of care between primary care and often multiple subspecialty providers. To assist health professionals and families in seeking best practice, a checklist and detailed references for guidance were developed by consensus.ConclusionsThe overall multisystem issues of RTT require primary care providers and other health professionals to manage complex medical comorbidities within the context of the whole individual and family. Given the median life expectancy well into the sixth decade, guidance is provided to health professionals to achieve current best possible outcomes for these special-needs individuals. |
| Databáze: | OpenAIRE |
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