Abstract Details

Title Immunotherapy Responsiveness and Risk of Relapse in Down Syndrome Regression Disorder

Topic Child Neurology and Developmental Neurology

Presentation(s) S34 - Child Neurology and Developmental Neurology 2 (1:24 PM-1:36 PM)

Poster/Presentation
Number 003

Background 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.

Objective 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).

Design/Methods 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.

Results 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.

Conclusions 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.
	No disclosure on file
Robyn A. 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.
	No disclosure on file
Ryan Kammeyer, MD (Childrens Hospital Colorado)	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 (Children's Hospital Colorado)	No disclosure on file
	No disclosure on file
	No disclosure on file
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 Boyd (Children's Hospital Los Angeles)	Natalie Boyd has nothing to disclose.
	No disclosure on file
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, FAAN	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.
	No disclosure on file
Melanie Manning (Stanford School of Medicine)	Melanie Manning has nothing to disclose.
	No disclosure on file
Gordon Worley	No disclosure on file
Catherine Franklin (The University of Queensland)	Catherine Franklin has nothing to disclose.
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
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.