Research Articles

Articles are in categories with the most recent publication listed first

Case Reports

Case Report: Improvement Following Immunotherapy in an Individual With Seronegative Down Syndrome Disintegrative Disorder

March, 2021

Authors: Sarah J Hart, Gordon Worley, Priya S Krishnani, Heather Van Mater
PMID: 33841297
DOI: 10.3389/fneur.2021.621637

Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database

April, 2020

Authors: Stephanie Santoro, Sheila Cannon, George Capone, Cathy Franklin, Sarah J Hart, Victoria Hobensack, Priya S Kishnani, Eric A Macklin, Kandamuruga Manickam, Andrew McCormick, Patricia Nash, Nicolas M Oreskovic, Vasiliki Patsiogiannis, Katherine Steingass, Amy Torres, Diletta Valentini, Kishore Vellody, Brain G Skoto
PMID: 31767984
DOI: 10.1038/s41436-019-0706-8

Catatonia as a feature of down syndrome: An under-recognised entity?

March, 2020

Authors: Aisling Lyons, Nicholas M Allen, Orla Flanagan, Deirdre Cahalane
PMID: 31959555
DOI: 10.1016/j.ejpn.2020.01.005

Immunotherapy in selected patients with Down syndrome disintegrative disorder

July, 2019

Authors: Kathleen Cardinale, Alexandra Bocharnikov, Sarah J Hart, Jane Ann Baker, Christopher Eckstein, Joan M Jasien, William Gallentine, Gordon Worley, Priya S Kishnani, Heather Van Mater
PMID: 30548468
DOI:10.1111/dmcn.14127

Rapid clinical deterioration in an individual with Down syndrome

July, 2016

Authors: Julia Jacobs, Alison Schwartz, Christopher J McDougle, Brain G Skoto
PMID: 27149638
DOI: 10.1002/ajmg.a.37674

Down Syndrome Disintegrative Disorder: New-Onset Autistic Regression, Dementia, and Insomnia in Older Children and Adolescents With Down Syndrome

August, 2015

Authors: Gordon Worley, Blythe G Crissman, Emily Cadogan, Christie Milleson, Deanna W Adkins, Priya S Kishnani
PMID: 25367918
DOI: 10.1177/0883073814554654

Reviews

A Systematic Review of Unexplained Early Regression in Adolescents and Adults with Down Syndrome

Sep, 2021

Authors: Madeline Walpert, Shahid Zaman, Anthony Holland
PMID: 34573218
DOI: 10.3390/brainsci11091197

Neurologic complications of Down syndrome: a systematic review

Sep, 2020

Authors: Jonathan D Santoro, Dania Pagarkar, Duong T Chu, Mattia Rosso, Killi C Paulsen, Pat Levitt, Michael S Rafii
PMID: 32920658
DOI: 10.1007/s00415-020-10179-w

Systematic Review of Recent Pediatric Down Syndrome Neuropsychology Literature: Considerations for Regression Assessment and Monitoring

August, 2020

Authors: Katherine G Grealish, August M Price, David S Stein
PMID: 32251042
DOI: 10.1097/DBP.0000000000000800

Down Syndrome Disintegrative Disorder: A Clinical Regression Syndrome of Increasing Importance

June, 2020

Authors: Mattia Rosso, Ellen Fremion, Stephanie Santoro, Nicolar M Oreskovic, Tanuja Chitnis, Brian G Skoto, Jonathan Santoro
PMID: 32471843
DOI: 10.1542/peds.2019-2939

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