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Abstract Details

Evidence of Neuroinflammation and Immunotherapy Responsiveness in Individuals with Down Syndrome Regression Disorder
Autoimmune Neurology
P10 - Poster Session 10 (8:00 AM-9:00 AM)
6-018
Down syndrome regression disorder is a symptom cluster consisting of neuropsychiatric regression without cause. This study evaluated the incidence of neurodiagnostic abnormalities in individuals with Down syndrome regression disorder and determined if abnormalities are indicative of responses to therapeutic intervention.
This study sought to phenotype and characterize neurodiagnostic abnormalities in persons with Down syndrome regression disorder. In addition, we sought to assess therapeutic responses to a variety of different pharmacologic interventions.
A retrospective, multi-center, case-control study was performed. Patients were required to have subacute onset and the presence of four of five symptom groups present (cognitive decline, expressive language, sleep derangement, loss of ability to perform activities of daily living, and/or a new movement disorder) and no other explanation for symptoms.
Individuals with Down syndrome regression disorder were comparable to a cohort of individuals with only Down syndrome although had higher rates of autoimmune disease (p = 0.02, 95%CI 1.04-1.75). Neurodiagnostic abnormalities were found on EEG (n = 19, 26%), neuroimaging (n = 16, 22%), and CSF (n = 9, 17%). Pleocytosis was appreciated in five cases, elevated total protein in nine, elevated IgG index in seven, and oligoclonal bands in two. Testing within 2 years of symptom onset was more likely to have neurodiagnostic abnormalities (p = 0.01, 95%CI 1.64-37.06). In individuals with neurodiagnostic abnormalities, immunotherapy was nearly four times more likely to have a therapeutic effect than in those without neurodiagnostic abnormalities (OR 4.11, 95%CI 1.88-9.02). In those with normal neurodiagnostic studies (n = 43), IVIg was effective in 14 of 17 (82%) patients as well although other immunotherapies were uniformly ineffective.
This study reports the novel presence of neurodiagnostic testing abnormalities in individuals with Down syndrome regression disorder, providing credence to this symptom cluster potentially being of neurologic and/or neuroimmunologic etiology.
Authors/Disclosures
Jonathan Santoro, MD (Department of Neurology, Children's Hospital Los Angeles)
PRESENTER
Dr. Santoro has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for UCB. Dr. Santoro has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Cycle Pharma.
Rebecca Partridge, MD Dr. Partridge has nothing to disclose.
Runi Tanna Miss Tanna has nothing to disclose.
Dania Pagarkar Miss Pagarkar has nothing to disclose.
Mellad Khoshnood, MD (Children's Hospital Los Angeles) Dr. Khoshnood has nothing to disclose.
Ryan Kammeyer, MD (Childrens Hospital Colorado) The institution of Dr. Kammeyer has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sanofi-Genzyme. Dr. Kammeyer has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for Ogborn-Mihm Trial Lawyers. The institution of Dr. Kammeyer has received research support from Rocky Mountain Multiple Sclerosis Center.
Grace Gombolay, MD (Emory University/Children'S Healthcare of Atlanta) Dr. Gombolay has received personal compensation in the range of $0-$499 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Pediatric Neurology. An immediate family member of Dr. Gombolay has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for Washington Injury Lawyers. The institution of Dr. Gombolay has received research support from CDC. The institution of Dr. Gombolay has received research support from NIH.
Jane El Dahr, MD (Tulane Univeristy, Ochsner Clinic) Dr. El Dahr has nothing to disclose.
Alison L. Christy, MD, PhD (Providence Health & Services, Pediatric Specialty Clinic) Dr. Christy has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Azurity. Dr. Christy has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for SAGE Publishing. Dr. Christy has received personal compensation in the range of $5,000-$9,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for MDLinx. Dr. Christy has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for MDLinx. The institution of Dr. Christy has received research support from Biohaven. The institution of Dr. Christy has received research support from Novartis / Amgen. The institution of Dr. Christy has received research support from Eli Lilly. The institution of Dr. Christy has received research support from Abbvie. The institution of Dr. Christy has received research support from Eli Lilly.
Lina Patel, Other (Children's Hospital Colorado) Dr. Patel has nothing to disclose.
Melanie Manning, MD (Stanford School of Medicine) Dr. Manning has nothing to disclose.
Heather Van Mater, MD (Duke University) Dr. Van Mater has nothing to disclose.
Michael S. Rafii, MD, PhD (USC Alzheimer'S Therapeutic Research Institute) Dr. Rafii has received personal compensation in the range of $500-$4,999 for serving as a Consultant for AC Immune. Dr. Rafii has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Keystone Bio. Dr. Rafii has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Alzheon.
Eileen A. Quinn, MD (University of Toledo College of Medicine and Life Sciences) Dr. Quinn has nothing to disclose.