79 - Youth With ASD and Neuropsychiatric Deteriorations: Future Development of Arthritis and Other Autoimmune Conditions

Publication Number: 1071.79

Noelle Schlenk, Stanford University School of Medicine, Olathe, KS, United States; Meiqian Ma, Stanford University School of Medicine, Palo Alto, CA, United States; Jesse Sandberg, Lucile Packard Children's Hospital Stanford, Stanford, CA, United States; Zadie J. Schaffer, Lucile Packard Children's Hospital Stanford, Portland, OR, United States; Kate Miles, Stanford University School of Medicine, Palo Alto, CA, United States; Cindy Manko, Stanford University School of Medicine, Palo Alto, CA, United States; Bahare Farhadian, Lucile Packard Children's Hospital Stanford, Palo Alto, CA, United States; Kayla V. Azad, Stanford University School of Medicine, Foster City, CA, United States; Christy Capestany, Lucile Packard Children's Hospital Stanford, Sunnyvale, CA, United States; Abhinay Aeruva, University of Arizona College of Medicine - Phoenix, Phoenix, AZ, United States; Yuhuan Xie, Stanford Medicine, Stanford, CA, United States; Paula Tran, Stanford University School of Medicine, Palo Alto, CA, United States; Melissa Silverman, Stanford University School of Medicine, Stanford, CA, United States; Kevin W. Hoffman, Stanford University School of Medicine, Stanford, CA, United States; Margo Thienemann, Stanford University School of Medicine, Redwood City, CA, United States; Jennifer Frankovich, Stanford University School of Medicine, Palo Alto, CA, United States

Background: The causes of severe neuropsychiatric deteriorations among patients with previously stable autism spectrum disorder (ASD) are poorly understood and present substantial challenges for care.

Objective: Our objective is to characterize the prevalence of autoimmune and inflammatory conditions and markers, as well as musculoskeletal findings, among patients with ASD experiencing post-infectious neuropsychiatric deteriorations.

Design/Methods: In this study, we present the relative incidences of autoimmune diagnoses (including arthritis), inflammatory markers, and other findings from 43 consecutive patients with ASD seen in the Stanford Immune Behavioral Health (IBH) clinic, a specialty program for youth with neuropsychiatric deteriorations that are suspected to be post-infectious (non-psychosocial).

Results: While not all patients presented with a classifiable autoimmune disease at the time of clinical presentation, over half (60%) demonstrated at least one marker of immune activation using a limited panel across four categories; One-third (33%) had at least one marker of autoimmunity (antibodies against histone, thyroid, and nuclear proteins), 41% had a marker suggesting complement activation (i.e., high C1q binding assay), 11% had a marker of immune dysregulation/inflammation (i.e., leukopenia, thrombocytosis), and 30% had a marker of vascular inflammation (i.e., high vWF antigen, periungual erythema, prominent onychodermal band). Arthritis was diagnosed in 15/43 patients, predominantly enthesitis-related arthritis (ERA) and psoriatic arthritis (PsA). No patients had rheumatoid arthritis. Arthritis was confirmed by imaging in 14/15 patients. Among 10 patients who had joint imaging and did not meet established criteria for juvenile arthritis, 70% had evidence of joint effusions and/or synovitis, which may represent a forme fruste of arthritis. Additionally, 9/43 (21%) were found to have an autoimmune condition other than arthritis, including Celiac disease (n=3), psoriasis (n=2), autoimmune thyroiditis (n=2), inflammatory bowel disease (n=2), and systemic lupus erythematosus (SLE) (n=1). Average (SD) age at arthritis and other autoimmune disease diagnoses was 16.2 (5.5) and 12.7 (4.9) years, respectively. Other immunologic diseases were found in 25/43 (58%).

Conclusion(s): These data underscore the importance of targeted immune evaluation in ASD patients who have had a suspected post-infectious behavioral regression.

Clinical Characteristics, Arthritis Subtypes and Other Autoimmune or Immunologic Conditions Among Consecutive Patients with ASD and Suspected Post-Infectious Neuropsychiatric Deteriorations
Abbreviations: International League of Associations for Rheumatology (ILAR); Assessment of SpondyloArthritis International Society (ASAS)

Kaplan-Meier Plot, Cumulative Incidence of Autoimmune Conditions (Including Arthritis) Among Consecutive Patients with ASD and Suspected Post-Infectious Neuropsychiatric Deteriorations
The shaded areas indicate the 95% CI.

Laboratory Markers and Physical Signs of Immune Activation Assessed at First Neuropsychiatric Symptom Exacerbation Captured in Clinic Among Consecutive Patients with ASD and Suspected Post-Infectious Neuropsychiatric Deteriorations
Abbreviations: Complement component 1q (C1q); White blood cells (WBC); Mean corpuscular volume (MCV); Total iron binding capacity (TIBC). Anti-thyroid antibody includes anti-thyroglobulin and/or anti-thyroid peroxidase antibodies. Low iron binding indicated by low transferrin saturation or high TIBC.