Molecular Genetics & Genomic Medicine (Mar 2022)
A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome
- 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
Affiliations
- Jessica Duis
- Section of Genetics & Inherited Metabolic Disease Section of Pediatrics, Special Care Department of Pediatrics Children’s Hospital Colorado University of Colorado Anschutz Medical Campus Aurora Colorado USA
- Mark Nespeca
- Department of Neurology Rady Children’s Hospital San Diego California USA
- Jane Summers
- Department of Psychiatry The Hospital for Sick Children Toronto Ontario Canada
- Lynne Bird
- Department of Pediatrics Clinical Genetics / Dysmorphology University of California, San Diego Rady Children’s Hospital San Diego San Diego California USA
- Karen G.C.B. Bindels‐de Heus
- Department of Pediatrics Erasmus MC Sophia Children’s Hospital Rotterdam Netherlands
- M. J. Valstar
- Department of Pediatrics Erasmus MC Sophia Children’s Hospital Rotterdam Netherlands
- Marie‐Claire Y. deWit
- Department of Pediatrics Erasmus MC Sophia Children’s Hospital Rotterdam Netherlands
- C. Navis
- Department of Pediatrics Erasmus MC Sophia Children’s Hospital Rotterdam Netherlands
- Maartje ten Hooven‐Radstaake
- Department of Pediatrics Erasmus MC Sophia Children’s Hospital Rotterdam Netherlands
- Bianca M. vanIperen‐Kolk
- ENCORE Expertise Center for Neurodevelopmental Disorders Erasmus MC University Medical Center Rotterdam The Netherlands
- Susan Ernst
- Department of Obstetrics and Gynecology University of Michigan Ann Arbor Michigan USA
- Melina Dendrinos
- Department of Obstetrics and Gynecology University of Michigan Ann Arbor Michigan USA
- Terry Katz
- Developmental Pediatrics Department of Pediatrics Children’s Hospital Colorado University of Colorado Anschutz Medical Campus Aurora CO USA
- Gloria Diaz‐Medina
- Division of Neurology and Developmental Pediatrics Department of Pediatrics Baylor College of Medicine Houston Texas USA
- Akshat Katyayan
- Division of Neurology and Developmental Pediatrics Department of Pediatrics Baylor College of Medicine Houston Texas USA
- Srishti Nangia
- Department of Pediatrics Division of Child Neurology Weill Cornell Medicine New York‐Presbyterian Hospital New York New York USA
- Ronald Thibert
- Angelman Syndrome Program Lurie Center for Autism Massachusetts General Hospital for Children Boston Massachusetts USA
- Daniel Glaze
- Division of Neurology and Developmental Pediatrics Department of Pediatrics Baylor College of Medicine Houston Texas USA
- Christopher Keary
- Angelman Syndrome Program Lurie Center for Autism Massachusetts General Hospital for Children Boston Massachusetts USA
- Karine Pelc
- Department of Neurology Hôpital Universitaire des Enfants Reine Fabiola Université Libre de Bruxelles (ULB) Brussels Belgium
- Nicole Simon
- Department of Psychiatry Boston Children’s Hospital Boston MA USA
- Anjali Sadhwani
- Department of Psychiatry Boston Children’s Hospital Boston MA USA
- Helen Heussler
- UQ Child Health Research Centre Faculty of Medicine The University of Queensland Brisbane Queensland Australia
- Anne Wheeler
- Center for Newborn Screening RTI International Research Triangle Park North Carolina USA
- Caroline Woeber
- Audiology, Speech & Learning Services Children’s Hospital Colorado Aurora Colorado USA
- Margaret DeRamus
- Department of Psychiatry Carolina Institute for Developmental Disabilities University of North Carolina at Chapel Hill Chapel Hill North Carolina USA
- Amy Thomas
- New York League for Early Learning William O'connor School New York New York USA
- Emily Kertcher
- UNC Hospital Chapel Hill Chapel Hill North Carolina USA
- Lauren DeValk
- Occupational Therapy Children’s Hospital Colorado Aurora Colorado USA
- Kristen Kalemeris
- Department of Pediatric Rehabilitation Monroe Carell Jr. Children's Hospital at Vanderbilt Nashville Tennessee USA
- Kara Arps
- Department of Physical Therapy Children’s Hospital Colorado University of Colorado Anschutz Medical Campus Aurora Colorado USA
- Carol Baym
- Physical Therapy Children’s Hospital Colorado Aurora Colorado USA
- Nicole Harris
- Physical Therapy Children’s Hospital Colorado Aurora Colorado USA
- John P. Gorham
- Department of Ophthalmology and Visual Sciences University of Michigan Ann Arbo Michigan USA
- Brenda L. Bohnsack
- Division of Ophthalmology Department of Ophthalmology Ann & Robert H. Lurie Children’s Hospital of Chicago Northwestern University Feinberg School of Medicine Ann Arbo Michigan USA
- Reid C. Chambers
- Department of Orthopedic Surgery Nationwide Children’s Hospital Columbus Ohio USA
- Sarah Harris
- Division of Neurology and Developmental Pediatrics Department of Pediatrics Baylor College of Medicine Houston Texas USA
- Henry G. Chambers
- Orthopedic Surgery San Diego Department of Pediatric Orthopedics University of California Rady Children’s Hospital San Diego California USA
- Katherine Okoniewski
- Center for Newborn Screening RTI International Research Triangle Park North Carolina USA
- Elizabeth R. Jalazo
- Angelman Syndrome Foundation Aurora Illinois USA
- Allyson Berent
- Foundation for Angelman Syndrome Therapeutics Chicago Illinois USA
- Carlos A. Bacino
- Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA
- Charles Williams
- Raymond C. Philips Unit Division of Genetics and Metabolism Department of Pediatrics University of Florida Gainesville Florida USA
- Anne Anderson
- Division of Neurology and Developmental Pediatrics Department of Pediatrics Baylor College of Medicine Houston Texas USA
- DOI
- https://doi.org/10.1002/mgg3.1843
- Journal volume & issue
-
Vol. 10,
no. 3
pp. n/a – n/a
Abstract
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.
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