Jonathan D. Santoro, MD
Dr. Santoro is a pediatric neurologist with special training in inflammatory and demyelinating disorders of the brain, spinal cord, and peripheral nervous system. His clinical research is in Down syndrome and the association between autoimmunity and the development of cerebrovascular disease.
Acute Disseminated Encephalomyelitis (ADEM)
Pediatric Multiple Sclerosis
Neuromyelitis Optica Spectrum Disorders
MOG Antibody Syndrome
Anti-NMDA Receptor Encephalitis
Optic Neuritis
Transverse Myelitis
Neurologic Disorders Associated With Down Syndrome
Bickerstaff's Brainstem Encephalitis and GQ1b Antibody Mediated Disorders
Autoimmune Encephalitis
Hashimoto's Encephalitis (Steroid Responsive Encephalitis with Associated Autoimmune Thyroiditis)
Down Syndrome Regression Disorder
Moyamoya vasculopathy
Aicardi Goutieres Syndrome
Education
Tulane University School of Medicine
Stanford University School of Medicine: Pediatrics
Stanford University School of Medicine: Pediatrics & Child Neurology
Harvard Medical School: Pediatric MS and Demyelinating Disorders
Accomplishments
American Board of Psychiatry and Neurology: Neurology with Special Qualifications in Child Neurology
American Medical Association
American Academy of Neurology
Child Neurology Society
Down Syndrome Medical Interest Group (DSMIG)
Publications
Selected Publications:
Santoro JD, Spinazzi NA, Filipink RA, et al. Immunotherapy responsiveness and risk of relapse in Down syndrome regression disorder. Transl Psychiatry 2023;13(1):276.
Santoro JD, Patel L, Kammeyer R, et al. Assessment and Diagnosis of Down Syndrome Regression Disorder: International Expert Consensus. Front Neurol 2022;13:940175.
Jafarpour S, Banerjee A, Boyd NK, et al. Association of rare variants in genes of immune regulation with pediatric autoimmune CNS diseases. J Neurol 2022:1-18. doi: 10.1007/s00415-022-11325-2
Santoro JD, Partridge R, Tanna R, et al. Evidence of neuroinflammation and immunotherapy responsiveness in individuals with down syndrome regression disorder. J Neurodev Disord 2022;14(1):35.
Santoro JD, Saucier LE, Tanna R, et al. Inadequate Vaccine Responses in Children With Multiple Sclerosis. Front Pediatr 2021;9:790159.
Santoro JD, Lee S, Wang AC, et al. Increased Autoimmunity in Individuals With Down Syndrome and Moyamoya Disease. Front Neurol 2021;12:724969.
Santoro JD, Waltz M, Aaen G, et al. Pediatric Multiple Sclerosis Severity Score in a large US cohort. Neurology 2020;95(13):e1844-e53.
Santoro JD, Paulsen KC. Biotinidase Deficiency as a Mimic of Neuromyelitis Optica Spectrum Disorder in Childhood. JAMA Neurol 2020;78(1):118-20.
Santoro JD, Lee S, Mlynash M, et al. Diminished Blood Pressure Profiles in Children With Down Syndrome. Hypertension 2020;75(3):819-25.
M, Fremion E, Santoro SL, et al. Down Syndrome Disintegrative Disorder: A Clinical Regression Syndrome of Increasing Importance. Pediatrics 2020;145(6)
Santoro JD, Lee S, Mlynash M, et al. Blood Pressure Elevation and Risk of Moyamoya Syndrome in Patients With Trisomy 21. Pediatrics 2018;142(4)
Santoro JD, Forkert ND, Yang QZ, et al. Brain Diffusion Abnormalities in Children with Tension-Type and Migraine-Type Headaches. AJNR Am J Neuroradiol 2018;39(5):935-41.
Research
Pediatric Multiple Sclerosis
MOG Antibody Spectrum Disorders
Neurologic Disorders Associated With Down Syndrome
Research Studies
The first Phase IIb clinical trial in Down syndrome regression disorder (DSRD). An open-label, randomized study comparing the safety and efficacy of lorazepam, intravenous immunoglobulin (IVIg) and the Janus Kinase inhibitor (JAK inhibitor), tofacitinib.
An exploration of the presence of neurodegenerative biomarkers in the blood associated with Alzheimer's disease in individuals with Down syndrome, autism spectrum disorder, and other neurodevelopmental conditions.
An investigation of the utility of non-invasive transcranial Doppler (TCD) ultrasound in the prediction of moyamoya disease in persons with Down syndrome with the goal of identifying cerebrovascular disease before it causes a stroke.
An investigation of procedural, clinical, and demographic factors which may influence the development of headaches after a lumbar puncture.
