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Abstract Details

Immunotherapy Responsiveness and Risk of Relapse in Down Syndrome Regression Disorder
Child Neurology and Developmental Neurology
S34 - Child Neurology and Developmental Neurology 2 (1:24 PM-1:36 PM)
003
Down syndrome regression disorder (DSRD) is a clinical symptom cluster consisting of neuropsychiatric regression without an identifiable cause. Although presumably polyfactorial, a minority of individuals with this condition have been found to have inflammatory biomarkers and are immunotherapy responsive. This study evaluated the clinical effectiveness of IVIg and evaluated clinical characteristics associated with relapse after therapy discontinuation.
This study evaluated the clinical effectiveness of IVIg and evaluated clinical characteristics associated with relapse after therapy discontinuation in persons with Down Syndrome Regression Disorder (DSRD).
A prospective, multi-center, non-randomized, observational study was performed. Patients met criteria for DSRD and were treated with IVIg. All patients underwent a standardized wean off therapy after 9-12 months of treatment. Baseline, on therapy, and relapse scores of the Neuropsychiatric Inventory Total Score (NPITS), Clinical Global Impression-Severity (CGI-S), and the Bush-Francis Catatonia Rating Scale (BFCRS) were used to track clinical symptoms.
Eighty-two individuals were enrolled in this study. Patients had lower BFCRS (MD: -6.68; 95% CI: -8.23, -5.14), CGI-S (MD: -1.27; 95% CI: -1.73, -0.81), and NPITS scores (MD: -6.50; 95% CI: -7.53, -5.47) while they were on therapy compared to baseline. Approximately 46% of the patients (n = 38) experienced neurologic relapse with wean of IVIg. Patients with neurologic relapse were more likely to have any abnormal neurodiagnostic study (χ2 = 11.82, p = 0.001), abnormal MRI (χ2 = 7.78, p = 0.005), and abnormal LP (χ2 = 5.45, p = 0.02), and a personal history of autoimmunity (OR: 6.11, p<0.001) compared to patients without relapse.
IVIg was highly effective in the treatment of DSRD. Individuals with a history of personal autoimmunity or neurodiagnostic abnormalities were more likely to relapse following weaning of immunotherapy, indicating the potential for, a chronic autoimmune etiology in some cases of DSRD.
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.
Noemi A. Spinazzi, MD (UCSF) Dr. Spinazzi has received personal compensation in the range of $5,000-$9,999 for serving as an Expert Witness for Zalkin Law Firm. The institution of Dr. Spinazzi has received research support from Konica Minolta.
Robyn Ann Filipink, MD (Children'S Hospital of Pittsburgh of UPMC) The institution of an immediate family member of Dr. Filipink has received research support from NIH . Dr. Filipink has received personal compensation in the range of $0-$499 for serving as a Author with Medlink.
Panteha Hayati Rezvan, PhD (Children's Hospital Los Angeles) Dr. Hayati Rezvan 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.
Lina Patel, Other (Children's Hospital Colorado) Dr. Patel has nothing to disclose.
Elise Michelle Sannar, MD The institution of Dr. Sannar has received research support from Colorado Department of Public Health and Environment. The institution of Dr. Sannar has received research support from National Institute of Health.
Luke Dwyer, MD Dr. Dwyer has nothing to disclose.
Abhik Banerjee, PhD Dr. Banerjee has nothing to disclose.
Mellad Khoshnood, MD (Children's Hospital Los Angeles) Dr. Khoshnood has nothing to disclose.
Saba Jafarpour, MD (Children’s Hospital of Los Angeles) Dr. Jafarpour has nothing to disclose.
Natalie K. Boyd (Children's Hospital Los Angeles) Ms. Boyd has nothing to disclose.
Rebecca Partridge, MD Dr. Partridge has nothing to disclose.
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.
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.
Maria Del Carmen Ortega Bernardo, Sr., MD Dr. ORTEGA BERNARDO 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.
Gordon Worley, MD Dr. Worley has nothing to disclose.
Catherine Susan Franklin, MBBS,Other (The University of Queensland) Dr. Franklin has nothing to disclose.
Maria A. Stanley, MD (University of Wisconsin School of Medicine and Public Health - Madison, WI) The institution of Dr. Stanley has received research support from NIH. The institution of Dr. Stanley has received research support from NIH.
Ruth C. Brown, PhD (Virginia Commonwealth University) Dr. Brown has nothing to disclose.
George Capone (Kennedy Krieger Institute) The institution of George Capone has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for ACImmune. The institution of George Capone has received research support from LuMind.
Eileen A. Quinn, MD (University of Toledo College of Medicine and Life Sciences) Dr. Quinn 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.