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  1. Article: Development of trofinetide for the treatment of Rett syndrome: from bench to bedside.

    Kennedy, Melissa / Glass, Larry / Glaze, Daniel G / Kaminsky, Steve / Percy, Alan K / Neul, Jeffrey L / Jones, Nancy E / Tropea, Daniela / Horrigan, Joseph P / Nues, Paige / Bishop, Kathie M / Youakim, James M

    Frontiers in pharmacology

    2024  Volume 14, Page(s) 1341746

    Abstract: Rett syndrome (RTT) is rare neurodevelopmental disorder caused by mutations in ... ...

    Abstract Rett syndrome (RTT) is rare neurodevelopmental disorder caused by mutations in the
    Language English
    Publishing date 2024-01-22
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2587355-6
    ISSN 1663-9812
    ISSN 1663-9812
    DOI 10.3389/fphar.2023.1341746
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Consensus guidelines on managing Rett syndrome across the lifespan.

    Fu, Cary / Armstrong, Dallas / Marsh, Eric / Lieberman, David / Motil, Kathleen / Witt, Rochelle / Standridge, Shannon / Nues, Paige / Lane, Jane / Dinkel, Tristen / Coenraads, Monica / von Hehn, Jana / Jones, Mary / Hale, Katie / Suter, Bernhard / Glaze, Daniel / Neul, Jeffrey / Percy, Alan / Benke, Timothy

    BMJ paediatrics open

    2020  Volume 4, Issue 1, Page(s) e000717

    Abstract: 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 ... ...

    Abstract 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.
    Language English
    Publishing date 2020-09-13
    Publishing country England
    Document type Journal Article
    ISSN 2399-9772
    ISSN (online) 2399-9772
    DOI 10.1136/bmjpo-2020-000717
    Database MEDical Literature Analysis and Retrieval System OnLINE

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