Other Papers
Regression Specific Papers
2024 – Down Syndrome Regression Disorder (DSRD) , What it is, and what can be done about it
Dr Cathy Franklin presentation
– Presentation slides
– Handout
2024 – An Interview with Dr. Jonathan Santoro and Dr. Eileen Quinn
321: Canada’s Down Syndrome Magazine. Spring 2024
2024 – Safety and tolerability of intravenous immunoglobulin infusion in Down syndrome regression disorder
American Journal of Medical Genetics. 2024, 2 Jan 2024.
Santoro JD, Jafarpour S, Khoshnood MM, Boyd NK, Vogel BN, Nguyen L, Saucier LE, Partridge R, Tiongson E, Ramos-Platt L, Nagesh D, Ho E, Rosser T, Ahsan N, Mitchell WG, Rafii MS.
2021 – Acute Regression in Down Syndrome
Brain Science. 2021, 11, 1109.
Handen, B.; Clare, I.; Laymon, C.; Petersen, M.; Zaman, S.; O’Bryant, S.; Minhas, D.; Tudorascu, D.; Brown, S.; Christian, B., on behalf of the Alzheimer’s Biomarker Consortium-Down Syndrome (ABC-DS).
2021 – A Systematic Review of Unexplained Early Regression in Adolescents and Adults with Down Syndrome
Brain Science. 2021, 11, 1197.
Walpert, M.; Zaman, S.; Holland, A.
2021 – Regression
Mental wellness in adults with Down syndrome: a guide to emotional and behavioral strengths and challenges
2nd edition, 2021
McGuire, Dennis and Chicoine, Brian
2020 – Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database
Genetics in Medicine. April 2020, 22, 4.
Stephanie L. Santoro, Sheila Cannon, George Capone, Cathy Franklin, Sarah J. Hart, Victoria Hobensack, Priya S. Kishnani, Eric A. Macklin, Kandamurugu Manickam, Andrew McCormick, Patricia Nash, Nicolas M. Oreskovic, Vasiliki Patsiogiannis, Katherine Steingass, Amy Torres, Diletta Valentini, Kishore Vellody ,and Brian G. Skotko.
2019 – New Definition of Unexplained Regression in Down Syndrome Proposed
the AJMG Sequence. 2019.
Roxanne Nelson
2017 – Acute Regression in Young People with Down Syndrome
Brain Science. 2017, 7, 57.
Clotilde Mircher , Cécile Cieuta-Walti, Isabelle Marey, Anne-Sophie Rebillat, Laura Cretu,Eliane Milenko, Martine Conte, Franck Sturtz, Marie-Odile Rethore and Aimé Ravel
2016 – Rapid Clinical Deterioration in an Individual With Down Syndrome
American Journal of Genetics, Part A 9999A:1–4.
Jacobs J, Schwartz A, McDougle CJ, Skotko
2012 – Acute neuropsychiatric disorders in adolescents and young adults with Down syndrome: Japanese case reports
Neuropsychiatric Disease and Treatment. 2012, 8.
Keiko Akahoshi, Hiroshi Matsuda, Masuko Funahashi, Tomoyuki Hanaoka, Yasuyuki Suzuki
2011 – Dissertation on Developmental Regression in Children with Down Syndrome
Submitted to the Department of Special Education and the Faculty of the Graduate School of the University of Kansas In partial fulfillment of the requirements for the degree of Doctor of Philosophy
Immunotherapy
2022 – Evidence of neuroinflammation and immunotherapy responsiveness in individuals with down syndrome regression disorder
Journal of Neurodevelopmental Disorders. 2022, 14, 35.
Jonathan D. Santoro, Rebecca Partridge, Runi Tanna, Dania Pagarkar, Mellad Khoshnood, Mustafa Rehmani, Ryan M. Kammeyer, Grace Y. Gombolay, Kristen Fisher, Allison Conravey, Jane El‑Dahr, Alison L. Christy, Lina Patel, Melanie A. Manning, Heather Van Mater, Michael S. Rafii and Eileen A. Quinn
2021 – An Important Clinical Trial for People with Down Syndrome: Insights into Inflammation, Autoimmune Conditions, Quality of Life and More
8 December 2021
Linda Crnic Institute for Down Syndrome
Alternative Diagnosis
2023 – Alternative Diagnoses in the Work Up of Down Syndrome Regression Disorder
Journal of Autism and Developmental Disorders. 24 June 2023.
Santoro JD, Khoshnood MM, Nguyen L, Vogel BN, Boyd NK, Paulsen KC, Rafii MS.