A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome
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 caus...
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2022-03-01
|
| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.1843 |
| _version_ | 1818303209078259712 |
|---|---|
| author | 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 |
| author_facet | 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 |
| author_sort | Jessica Duis |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-13T05:51:09Z |
| format | Article |
| id | doaj.art-eb69721114bc440fbbb670148e293148 |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-12-13T05:51:09Z |
| publishDate | 2022-03-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-eb69721114bc440fbbb670148e2931482022-12-21T23:57:32ZengWileyMolecular Genetics & Genomic Medicine2324-92692022-03-01103n/an/a10.1002/mgg3.1843A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndromeJessica Duis0Mark Nespeca1Jane Summers2Lynne Bird3Karen G.C.B. Bindels‐de Heus4M. J. Valstar5Marie‐Claire Y. deWit6C. Navis7Maartje ten Hooven‐Radstaake8Bianca M. vanIperen‐Kolk9Susan Ernst10Melina Dendrinos11Terry Katz12Gloria Diaz‐Medina13Akshat Katyayan14Srishti Nangia15Ronald Thibert16Daniel Glaze17Christopher Keary18Karine Pelc19Nicole Simon20Anjali Sadhwani21Helen Heussler22Anne Wheeler23Caroline Woeber24Margaret DeRamus25Amy Thomas26Emily Kertcher27Lauren DeValk28Kristen Kalemeris29Kara Arps30Carol Baym31Nicole Harris32John P. Gorham33Brenda L. Bohnsack34Reid C. Chambers35Sarah Harris36Henry G. Chambers37Katherine Okoniewski38Elizabeth R. Jalazo39Allyson Berent40Carlos A. Bacino41Charles Williams42Anne Anderson43Section 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 USADepartment of Neurology Rady Children’s Hospital San Diego California USADepartment of Psychiatry The Hospital for Sick Children Toronto Ontario CanadaDepartment of Pediatrics Clinical Genetics / Dysmorphology University of California, San Diego Rady Children’s Hospital San Diego San Diego California USADepartment of Pediatrics Erasmus MC Sophia Children’s Hospital Rotterdam NetherlandsDepartment of Pediatrics Erasmus MC Sophia Children’s Hospital Rotterdam NetherlandsDepartment of Pediatrics Erasmus MC Sophia Children’s Hospital Rotterdam NetherlandsDepartment of Pediatrics Erasmus MC Sophia Children’s Hospital Rotterdam NetherlandsDepartment of Pediatrics Erasmus MC Sophia Children’s Hospital Rotterdam NetherlandsENCORE Expertise Center for Neurodevelopmental Disorders Erasmus MC University Medical Center Rotterdam The NetherlandsDepartment of Obstetrics and Gynecology University of Michigan Ann Arbor Michigan USADepartment of Obstetrics and Gynecology University of Michigan Ann Arbor Michigan USADevelopmental Pediatrics Department of Pediatrics Children’s Hospital Colorado University of Colorado Anschutz Medical Campus Aurora CO USADivision of Neurology and Developmental Pediatrics Department of Pediatrics Baylor College of Medicine Houston Texas USADivision of Neurology and Developmental Pediatrics Department of Pediatrics Baylor College of Medicine Houston Texas USADepartment of Pediatrics Division of Child Neurology Weill Cornell Medicine New York‐Presbyterian Hospital New York New York USAAngelman Syndrome Program Lurie Center for Autism Massachusetts General Hospital for Children Boston Massachusetts USADivision of Neurology and Developmental Pediatrics Department of Pediatrics Baylor College of Medicine Houston Texas USAAngelman Syndrome Program Lurie Center for Autism Massachusetts General Hospital for Children Boston Massachusetts USADepartment of Neurology Hôpital Universitaire des Enfants Reine Fabiola Université Libre de Bruxelles (ULB) Brussels BelgiumDepartment of Psychiatry Boston Children’s Hospital Boston MA USADepartment of Psychiatry Boston Children’s Hospital Boston MA USAUQ Child Health Research Centre Faculty of Medicine The University of Queensland Brisbane Queensland AustraliaCenter for Newborn Screening RTI International Research Triangle Park North Carolina USAAudiology, Speech & Learning Services Children’s Hospital Colorado Aurora Colorado USADepartment of Psychiatry Carolina Institute for Developmental Disabilities University of North Carolina at Chapel Hill Chapel Hill North Carolina USANew York League for Early Learning William O'connor School New York New York USAUNC Hospital Chapel Hill Chapel Hill North Carolina USAOccupational Therapy Children’s Hospital Colorado Aurora Colorado USADepartment of Pediatric Rehabilitation Monroe Carell Jr. Children's Hospital at Vanderbilt Nashville Tennessee USADepartment of Physical Therapy Children’s Hospital Colorado University of Colorado Anschutz Medical Campus Aurora Colorado USAPhysical Therapy Children’s Hospital Colorado Aurora Colorado USAPhysical Therapy Children’s Hospital Colorado Aurora Colorado USADepartment of Ophthalmology and Visual Sciences University of Michigan Ann Arbo Michigan USADivision of Ophthalmology Department of Ophthalmology Ann & Robert H. Lurie Children’s Hospital of Chicago Northwestern University Feinberg School of Medicine Ann Arbo Michigan USADepartment of Orthopedic Surgery Nationwide Children’s Hospital Columbus Ohio USADivision of Neurology and Developmental Pediatrics Department of Pediatrics Baylor College of Medicine Houston Texas USAOrthopedic Surgery San Diego Department of Pediatric Orthopedics University of California Rady Children’s Hospital San Diego California USACenter for Newborn Screening RTI International Research Triangle Park North Carolina USAAngelman Syndrome Foundation Aurora Illinois USAFoundation for Angelman Syndrome Therapeutics Chicago Illinois USADepartment of Molecular and Human Genetics Baylor College of Medicine Houston Texas USARaymond C. Philips Unit Division of Genetics and Metabolism Department of Pediatrics University of Florida Gainesville Florida USADivision of Neurology and Developmental Pediatrics Department of Pediatrics Baylor College of Medicine Houston Texas USAAbstract 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.https://doi.org/10.1002/mgg3.1843Angelman SyndromegeneticsmanagementneurogeneticsUBE3A |
| spellingShingle | 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 A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome Molecular Genetics & Genomic Medicine Angelman Syndrome genetics management neurogenetics UBE3A |
| title | A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome |
| title_full | A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome |
| title_fullStr | A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome |
| title_full_unstemmed | A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome |
| title_short | A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome |
| title_sort | multidisciplinary approach and consensus statement to establish standards of care for angelman syndrome |
| topic | Angelman Syndrome genetics management neurogenetics UBE3A |
| url | https://doi.org/10.1002/mgg3.1843 |
| work_keys_str_mv | AT jessicaduis amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT marknespeca amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT janesummers amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT lynnebird amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT karengcbbindelsdeheus amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT mjvalstar amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT marieclaireydewit amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT cnavis amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT maartjetenhoovenradstaake amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT biancamvaniperenkolk amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT susanernst amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT melinadendrinos amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT terrykatz amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT gloriadiazmedina amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT akshatkatyayan amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT srishtinangia amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT ronaldthibert amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT danielglaze amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT christopherkeary amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT karinepelc amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT nicolesimon amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT anjalisadhwani amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT helenheussler amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT annewheeler amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT carolinewoeber amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT margaretderamus amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT amythomas amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT emilykertcher amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT laurendevalk amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT kristenkalemeris amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT karaarps amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT carolbaym amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT nicoleharris amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT johnpgorham amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT brendalbohnsack amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT reidcchambers amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT sarahharris amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT henrygchambers amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT katherineokoniewski amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT elizabethrjalazo amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT allysonberent amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT carlosabacino amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT charleswilliams amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT anneanderson amultidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT jessicaduis multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT marknespeca multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT janesummers multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT lynnebird multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT karengcbbindelsdeheus multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT mjvalstar multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT marieclaireydewit multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT cnavis multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT maartjetenhoovenradstaake multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT biancamvaniperenkolk multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT susanernst multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT melinadendrinos multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT terrykatz multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT gloriadiazmedina multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT akshatkatyayan multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT srishtinangia multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT ronaldthibert multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT danielglaze multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT christopherkeary multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT karinepelc multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT nicolesimon multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT anjalisadhwani multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT helenheussler multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT annewheeler multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT carolinewoeber multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT margaretderamus multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT amythomas multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT emilykertcher multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT laurendevalk multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT kristenkalemeris multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT karaarps multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT carolbaym multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT nicoleharris multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT johnpgorham multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT brendalbohnsack multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT reidcchambers multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT sarahharris multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT henrygchambers multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT katherineokoniewski multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT elizabethrjalazo multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT allysonberent multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT carlosabacino multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT charleswilliams multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome AT anneanderson multidisciplinaryapproachandconsensusstatementtoestablishstandardsofcareforangelmansyndrome |