A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome

Autor: Jessica Duis, Mark Nespeca, Jane Summers, Lynne Bird, Karen G.C.B. Bindels‐de Heus, M. J. Valstar, Marie‐Claire Y. deWit, C. Navis, Maartje ten Hooven‐Radstaake, Bianca M. vanIperen‐Kolk, Susan Ernst, Melina Dendrinos, Terry Katz, Gloria Diaz‐Medina, Akshat Katyayan, Srishti Nangia, Ronald Thibert, Daniel Glaze, Christopher Keary, Karine Pelc, Nicole Simon, Anjali Sadhwani, Helen Heussler, Anne Wheeler, Caroline Woeber, Margaret DeRamus, Amy Thomas, Emily Kertcher, Lauren DeValk, Kristen Kalemeris, Kara Arps, Carol Baym, Nicole Harris, John P. Gorham, Brenda L. Bohnsack, Reid C. Chambers, Sarah Harris, Henry G. Chambers, Katherine Okoniewski, Elizabeth R. Jalazo, Allyson Berent, Carlos A. Bacino, Charles Williams, Anne Anderson
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Molecular Genetics & Genomic Medicine, Vol 10, Iss 3, Pp n/a-n/a (2022)
Druh dokumentu: article
ISSN: 2324-9269
69721114
DOI: 10.1002/mgg3.1843
Popis: Abstract Background Angelman syndrome (AS) is a rare neurogenetic disorder present in approximately 1/12,000 individuals and characterized by developmental delay, cognitive impairment, motor dysfunction, seizures, gastrointestinal concerns, and abnormal electroencephalographic background. AS is caused by absent expression of the paternally imprinted gene UBE3A in the central nervous system. Disparities in the management of AS are a major problem in preparing for precision therapies and occur even in patients with access to experts and recognized clinics. AS patients receive care based on collective provider experience due to limited evidence‐based literature. We present a consensus statement and comprehensive literature review that proposes a standard of care practices for the management of AS at a critical time when therapeutics to alter the natural history of the disease are on the horizon. Methods We compiled the key recognized clinical features of AS based on consensus from a team of specialists managing patients with AS. Working groups were established to address each focus area with committees comprised of providers who manage >5 individuals. Committees developed management guidelines for their area of expertise. These were compiled into a final document to provide a framework for standardizing management. Evidence from the medical literature was also comprehensively reviewed. Results Areas covered by working groups in the consensus document include genetics, developmental medicine, psychology, general health concerns, neurology (including movement disorders), sleep, psychiatry, orthopedics, ophthalmology, communication, early intervention and therapies, and caregiver health. Working groups created frameworks, including flowcharts and tables, to help with quick access for providers. Data from the literature were incorporated to ensure providers had review of experiential versus evidence‐based care guidelines. Conclusion Standards of care in the management of AS are keys to ensure optimal care at a critical time when new disease‐modifying therapies are emerging. This document is a framework for providers of all familiarity levels.
Databáze: Directory of Open Access Journals
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