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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Santoro, JD; Patel, L; Kammeyer, R; Filipink, RA; Gombolay, GY; Cardinale, KM; Real de Asua, D; Zaman, S; Santoro, SL; Marzouk, SM; Khoshnood, M; Vogel, BN; Tanna, R; Pagarkar, D; Dhanani, S; Ortega, MDC; Partridge, R; Stanley, MA; Sanders, JS; Christy, A; Sannar, EM; Brown, R; McCormick, AA; Van Mater, H; Franklin, C; Worley, G; Quinn, EA; Capone, GT; Chicoine, B; Skotko, BG; Rafii, MS

Published Date

  • 2022

Published In

Volume / Issue

  • 13 /

Start / End Page

  • 940175 -

PubMed ID

  • 35911905

Pubmed Central ID

  • PMC9335003

International Standard Serial Number (ISSN)

  • 1664-2295

Digital Object Identifier (DOI)

  • 10.3389/fneur.2022.940175

Language

  • eng

Conference Location

  • Switzerland