Assessment and Diagnosis of Down Syndrome Regression Disorder: International Expert Consensus

• Type of Material: Article
• Authors: Jonathan D Santoro, Children's Hospital Los Angeles; Lina Patel, University of Colorado Denver; Ryan Kammeyer, University of Colorado Denver; Robyn A Filipink, University of Pittsburgh; Grace Gombolay, Emory University; Kathleen M Cardinale, Yale University; Diego Real de Asua, Universitario de La Princesa; Shahid Zaman, University of Cambridge; Stephanie L Santoro, Massachusetts General Hospital; Sammer M Marzouk, Massachusetts General Hospital; Mellad Khoshnood, Childrens Hosp Los Angeles; Benjamin N Vogel, Keck School of Medicine at USC; Runi Tanna, Keck School of Medicine at USC; Dania Pagarkar, Keck School of Medicine at USC; Sofia Dhanani, Keck School of Medicine at USC; Maria Del Carmen Ortega, Clinica Universidad de Navarra; Rebecca Partridge, Virginia Mason Health System; Maria A Stanley, University of Wisconsin School of Medicine and Public Health, Madison; Jessica S Sanders, University of Colorado, Aurora; Alison Christy, Providence Health System; Elise M Sannar, University of Colorado School of Medicine, Denver; Ruth Brown, Virginia Commonwealth University; Andrew A McCormick, University of Pittsburgh; Heather Van Mater, Duke University; Cathy Franklin, University of Queensland; Gordon Worley, Duke University; Eileen A Quinn, University of Toledo; George T Capone, Kennedy Krieger Institute; Brian Chicoine, Adult Down Syndrome Center; Brian G Skotko, Massachusetts General Hospital; Michael S Rafii, Keck School of Medicine at USC
• Language: English
• Date: 2022-07-15
• Publisher: FRONTIERS MEDIA SA
• Publication Version: Final Published Version
• Copyright Statement: © 2022 Santoro, Patel, Kammeyer, Filipink, Gombolay, Cardinale, Real de Asua, Zaman, Santoro, Marzouk, Khoshnood, Vogel, Tanna, Pagarkar, Dhanani, Ortega, Partridge, Stanley, Sanders, Christy, Sannar, Brown, McCormick, Van Mater, Franklin, Worley, Quinn, Capone, Chicoine, Skotko and Rafii.
• License: Creative Commons Attribution 4.0 International
• Final Published Version (URL): http://dx.doi.org/10.3389/fneur.2022.940175
• Title of Journal or Parent Work: FRONTIERS IN NEUROLOGY
• Volume: 13
• Start Page: 940175
• End Page: 940175
• Keywords: consensus; criteria & indicators; ADOLESCENTS; LIVE BIRTHS; CHILDREN; Neurosciences; Life Sciences & Biomedicine; Neurosciences & Neurology; Clinical Neurology; AUTISM-SPECTRUM DISORDER; CATATONIA; Science & Technology; ELECTIVE TERMINATIONS; encephalopathy; NATURAL LOSSES; Down syndrome; regression
• Research Categories: Health Sciences, Medicine and Surgery

Abstract

Objective: To develop standardization for nomenclature, diagnostic work up and diagnostic criteria for cases of neurocognitive regression in Down syndrome. Background: There are no consensus criteria for the evaluation or diagnosis of neurocognitive regression in persons with Down syndrome. As such, previously published data on this condition is relegated to smaller case series with heterogenous data sets. Lack of standardized assessment tools has slowed research in this clinical area. Methods: The authors performed a two-round traditional Delphi method survey of an international group of clinicians with experience in treating Down syndrome to develop a standardized approach to clinical care and research in this area. Thirty-eight potential panelists who had either previously published on neurocognitive regression in Down syndrome or were involved in national or international working groups on this condition were invited to participate. In total, 27 panelists (71%) represented nine medical specialties and six different countries reached agreement on preliminary standards in this disease area. Moderators developed a proposed nomenclature, diagnostic work up and diagnostic criteria based on previously published reports of regression in persons with Down syndrome. Results: During the first round of survey, agreement on nomenclature for the condition was reached with 78% of panelists agreeing to use the term Down Syndrome Regression Disorder (DSRD). Agreement on diagnostic work up and diagnostic criteria was not reach on the first round due to low agreement amongst panelists with regards to the need for neurodiagnostic testing. Following incorporation of panelist feedback, diagnostic criteria were agreed upon (96% agreement on neuroimaging, 100% agreement on bloodwork, 88% agreement on lumbar puncture, 100% agreement on urine studies, and 96% agreement on “other” studies) as were diagnostic criteria (96% agreement). Conclusions: The authors present international consensus agreement on the nomenclature, diagnostic work up, and diagnostic criteria for DSRD, providing an initial practical framework that can advance both research and clinical practices for this condition.