Consensus guidelines on managing Rett syndrome across the lifespan
Background Rett 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...
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| Format: | Article |
| Language: | English |
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BMJ Publishing Group
2020-02-01
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| Series: | BMJ Paediatrics Open |
| Online Access: | https://bmjpaedsopen.bmj.com/content/4/1/e000717.full |
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| author | Mary Jones Cary Fu Dallas Armstrong Eric Marsh David Lieberman Kathleen Motil Rochelle Witt Shannon Standridge Paige Nues Jane Lane Tristen Dinkel Monica Coenraads Jana von Hehn Katie Hale Bernhard Suter Daniel Glaze Jeffrey Neul Alan Percy Timothy Benke |
| author_facet | Mary Jones Cary Fu Dallas Armstrong Eric Marsh David Lieberman Kathleen Motil Rochelle Witt Shannon Standridge Paige Nues Jane Lane Tristen Dinkel Monica Coenraads Jana von Hehn Katie Hale Bernhard Suter Daniel Glaze Jeffrey Neul Alan Percy Timothy Benke |
| author_sort | Mary Jones |
| collection | DOAJ |
| description | Background Rett 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.Methods Informed by the literature and using a modified Delphi approach, a consensus process was used to develop guidance for care in RTT by health professionals.Results Typical 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.Conclusions The 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. |
| format | Article |
| id | doaj-art-cf674e2501f94e23a3c1e9b1f99a4d48 |
| institution | Kabale University |
| issn | 2399-9772 |
| language | English |
| publishDate | 2020-02-01 |
| publisher | BMJ Publishing Group |
| record_format | Article |
| series | BMJ Paediatrics Open |
| spelling | doaj-art-cf674e2501f94e23a3c1e9b1f99a4d482024-12-01T04:15:07ZengBMJ Publishing GroupBMJ Paediatrics Open2399-97722020-02-014110.1136/bmjpo-2020-000717Consensus guidelines on managing Rett syndrome across the lifespanMary Jones0Cary Fu1Dallas Armstrong2Eric Marsh3David Lieberman4Kathleen Motil5Rochelle Witt6Shannon Standridge7Paige Nues8Jane Lane9Tristen Dinkel10Monica Coenraads11Jana von Hehn12Katie Hale13Bernhard Suter14Daniel Glaze15Jeffrey Neul16Alan Percy17Timothy Benke184 Royal Berkshire Foundation Trust, Reading, UKPediatrics and Neurology, Vanderbilt University Medical Center, Nashville, Tennessee, USANeurology, The Children`s Hospital of Philadelphia, Philadelphia, Pennsylvania, USANeurology, The Children`s Hospital of Philadelphia, Philadelphia, Pennsylvania, USANeurology, Boston Children`s Hospital, Boston, Massachusetts, USAPediatrics, Baylor College of Medicine, Houston, Texas, USANeurology, Boston Children`s Hospital, Boston, Massachusetts, USAPediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USAInternational Rett Syndrome Foundation, Cincinnati, Ohio, USAUniversity of Alabama at Birmingham, School of Medicine, Civitan International Research Center, Birmingham, Alabama, USANeurology, Children`s Hospital Colorado, Aurora, Colorado, USARett Syndrome Research Trust, New York, New York, USARett Syndrome Research Trust, New York, New York, USAPediatric Medicine, UCSF Benioff Children`s Hospital Oakland, Oakland, California, USAPediatrics and Neurology, Baylor College of Medicine, Houston, Texas, USAPediatrics and Neurology, Baylor College of Medicine, Houston, Texas, USAVanderbilt Kennedy Center, Nashville, Tennessee, USAPediatrics, Neurology, Neurobiology, Genetics, and Psychology, The University of Alabama at Birmingham School of Medicine, Birmingham, Alabama, USANeurology, Children`s Hospital Colorado, Aurora, Colorado, USABackground Rett 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.Methods Informed by the literature and using a modified Delphi approach, a consensus process was used to develop guidance for care in RTT by health professionals.Results Typical 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.Conclusions The 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.https://bmjpaedsopen.bmj.com/content/4/1/e000717.full |
| spellingShingle | Mary Jones Cary Fu Dallas Armstrong Eric Marsh David Lieberman Kathleen Motil Rochelle Witt Shannon Standridge Paige Nues Jane Lane Tristen Dinkel Monica Coenraads Jana von Hehn Katie Hale Bernhard Suter Daniel Glaze Jeffrey Neul Alan Percy Timothy Benke Consensus guidelines on managing Rett syndrome across the lifespan BMJ Paediatrics Open |
| title | Consensus guidelines on managing Rett syndrome across the lifespan |
| title_full | Consensus guidelines on managing Rett syndrome across the lifespan |
| title_fullStr | Consensus guidelines on managing Rett syndrome across the lifespan |
| title_full_unstemmed | Consensus guidelines on managing Rett syndrome across the lifespan |
| title_short | Consensus guidelines on managing Rett syndrome across the lifespan |
| title_sort | consensus guidelines on managing rett syndrome across the lifespan |
| url | https://bmjpaedsopen.bmj.com/content/4/1/e000717.full |
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