Assessment and diagnosis of Down syndrome regression disorder: International expert consensus

Jonathan D. Santoro, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, CA, United States.
Lina Patel, Department of Psychiatry, University of Colorado School of Medicine, Denver, CO, United States.
Ryan Kammeyer, Department of Neurology, University of Colorado Anschutz Medical Campus, Aurora, CO, United States.
Robyn A. Filipink, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, United States.
Grace Y. Gombolay, Department of Pediatrics, Division of Neurology, Emory University and Children's Healthcare of Atlanta, Atlanta, GA, United States.
Kathleen M. Cardinale, Department of Neurology, Yale University School of Medicine, New Haven, CT, United States.
Diego Real de Asua, Adult Down Syndrome Outpatient Clinic, Department of Internal Medicine, Fundación de Investigación Biomédica, Hospital Universitario de La Princesa, Madrid, Spain.
Shahid Zaman, Cambridge Intellectual & Developmental Disabilities Research Group, Department of Psychiatry, University of Cambridge, Cambridge, United Kingdom.
Stephanie L. Santoro, Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, United States.
Sammer M. Marzouk, Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, United States.
Mellad Khoshnood, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, CA, United States.
Benjamin N. Vogel, Department of Neurology, Keck School of Medicine at USC, Los Angeles, CA, United States.
Runi Tanna, Department of Neurology, Keck School of Medicine at USC, Los Angeles, CA, United States.
Dania Pagarkar, Department of Neurology, Keck School of Medicine at USC, Los Angeles, CA, United States.
Sofia Dhanani, Department of Neurology, Keck School of Medicine at USC, Los Angeles, CA, United States.
Maria Del Ortega, Department of Psychiatry, Clinica Universidad de Navarra, Madrid, Spain.
Rebecca Partridge, Virginia Mason Health System, Issaquah, WA, United States.
Maria A. Stanley, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, United States.
Jessica S. Sanders, Sie Center for Down Syndrome at the University of Colorado, Aurora, CO, United States.
Alison Christy, Providence Health System, Portland, OR, United States.
Elise M. Sannar, Department of Psychiatry, University of Colorado School of Medicine, Denver, CO, United States.
Ruth Brown, Department of Psychology, Virginia Commonwealth University, Richmond, VA, United States.
Andrew A. McCormick, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, United States.
Heather Van Mater, Division of Rheumatology, Department of Pediatrics, Duke University, Durham, NC, United States.
Cathy Franklin, Queensland Center for Intellectual and Developmental Disability, Mater Research Institute, The University of Queensland, South Brisbane, QLD, Australia.
Gordon Worley, Division of Pediatric Neurology and Developmental Medicine, Department of Pediatrics, Duke University School of Medicine, Durham, NC, United States.
Eileen A. Quinn, Department of Pediatrics, University of Toledo College of Medicine and Life Sciences, Toledo, OH, United States.
George T. Capone, Department of Pediatrics, Kennedy Krieger Institute, Baltimore, MD, United States.Follow
Brian Chicoine, Advocate Aurora HealthFollow
Brian G. Skotko, Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, United States.
et al

Affiliations

Advocate Medical Group Adult Down Syndrome Center

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.

Type

Article

PubMed ID

35911905

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