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Abstract Details

Increased Prevalence of Autoimmune Disease in Individuals with Down Syndrome and Moyamoya Disease
Cerebrovascular Disease and Interventional Neurology
P9 - Poster Session 9 (5:30 PM-6:30 PM)
13-001
There is a well-established association between Down syndrome and the development of moyamoya angiopathy. Higher rates of both autoimmune disease and thyroid autoantibodies in this population raise additional concerns that these factors may yield a greater risk of the development of moyamoya angiopathy although this has never been studied.
To determine if elevated rates of autoimmune disease are present in children with both Down syndrome and moyamoya angiopathy given the high rates of autoimmune disease reported in both conditions and unknown etiology of angiopathy in this population.

A multi-center retrospective case-control study of children with Down syndrome and moyamoya syndrome, idiopathic moyamoya disease, and Down syndrome without cerebrovascular disease was performed. Outcome measures included presence of autoimmune disease, presence of autoantibodies and angiopathy severity data. Comparisons across groups was performed using the Kruskal-Wallis, χ2 and multivariate Poisson regression.

The prevalence of autoimmune disease were 57.7%, 20.3%, and 35.3% in persons with Down syndrome and moyamoya syndrome, idiopathic moyamoya disease, and Down syndrome only groups, respectively (p<0.001). The prevalence of autoimmune disease among children with Down syndrome and moyamoya syndrome is 3.2 times (p<0.001, 95% CI: 1.82-5.58) higher than the idiopathic moyamoya group and 1.5 times (p=0.002, 95% CI: 1.17-1.99) higher than the Down syndrome only group when adjusting for age and sex. The most common autoimmune diseases were thyroid disorders, type I diabetes and Celiac disease. No individuals with idiopathic moyamoya disease had more than one type of autoimmune disorder while 15.4% of individuals with Down syndrome and moyamoya syndrome and 4.8% of individuals with Down syndrome only had >1 disorder (p=0.05, 95%CI: 1.08-6.08).

This study reports elevated rates of autoimmune disease in persons with Down syndrome and moyamoya syndrome providing a nidus for study of the role of autoimmunity in angiopathy in this population.
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.
Sarah Lee, MD (Stanford Stroke Center) Dr. Lee has nothing to disclose.
Anthony C. Wang, MD (UCLA) Dr. WANG has nothing to disclose.
Eugenia Ho, MD (Children's Hospital Los Angeles) No disclosure on file
Deepti Nagesh, MBBS (Children's Hospital of Los Angeles) Dr. Nagesh has nothing to disclose.
Runi Tanna Miss Tanna has nothing to disclose.
Mellad Khoshnood, MD (Children's Hospital Los Angeles) Dr. Khoshnood has nothing to disclose.
Ramon A Angel Durazo Arvizu, PhD (Children's Hospital Los Angeles/University of Southern California) Dr. Durazo Arvizu has nothing to disclose.
Melanie Manning, MD (Stanford School of Medicine) Dr. Manning has nothing to disclose.
Brian Gary Skotko, MD (Massachusetts General Hospital) Dr. Skotko has received personal compensation in the range of $0-$499 for serving as a Consultant for Gerson Lehrman Group. Dr. Skotko has received personal compensation in the range of $0-$499 for serving as an Expert Witness for various legal teams. The institution of Dr. Skotko has received research support from AC Immune. The institution of Dr. Skotko has received research support from F. Hoffmann-La Roche, Inc. The institution of Dr. Skotko has received research support from LuMind Research Down Syndrome Foundation. Dr. Skotko has received publishing royalties from a publication relating to health care. Dr. Skotko has received personal compensation in the range of $500-$4,999 for serving as a speaker with nonprofit Down syndrome organizations.
Gary Steinberg, MD, PhD (Stanford Univ Hosp Dept of Neurosurgery) Dr. Steinberg has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for SanBio. Dr. Steinberg has received personal compensation in the range of $50,000-$99,999 for serving as a Consultant for Zeiss. Dr. Steinberg has received personal compensation in the range of $50,000-$99,999 for serving as a Consultant for Surgical Theater. Dr. Steinberg has received research support from National Institutes of Health. Dr. Steinberg has received research support from California Institute of Regenerative Medicine. Dr. Steinberg has received intellectual property interests from a discovery or technology relating to health care.
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.