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Jonathan Santoro

Associate Professor of Clinical Pediatrics and Neurology

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Email [email protected]
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Publications

  • Biosimilar Therapeutics Substitution: American Academy of Neurology Position Statement. Neurol Clin Pract. 2026 Apr; 16(2):e200574.. View in PubMed
  • Tumefactive Demyelination in a Child With IKZF1 Gain-of-Function Variant. Pediatr Neurol. 2026 Mar; 176:141-144.. View in PubMed
  • Effects of disease modifying therapy on cognitive proficiency in pediatric-onset multiple sclerosis (POMS). Mult Scler Relat Disord. 2026 Mar 01; 109:107104.. View in PubMed
  • The Detection of Down Syndrome Arthritis in Clinical Practice: A Multicenter, International Pilot and Feasibility Study of a Down Syndrome-Specific Musculoskeletal Screening Tool. Am J Med Genet A. 2026 Mar; 200(3):653-660.. View in PubMed
  • Comparative Effectiveness and Risk of Severe Infection in Adult Patients With MS Treated With Diroximel Fumarate Versus Anti-CD20 Monoclonal Antibodies: A Real-World Claims Analysis. Adv Ther. 2026 Feb 18.. View in PubMed
  • Caregiver Perceived Barriers to Diagnosis and Care in Down Syndrome Regression Disorder. Am J Med Genet A. 2026 Feb; 200(2):379-406.. View in PubMed
  • The role of early immunotherapy in rasmussen’s encephalitis. Neurol Sci. 2026 Jan 17; 47(1):169.. View in PubMed
  • A Cross-Sectional Study Survey to Develop a Clinical Screen for Down Syndrome Regression Disorder in the United Kingdom. Am J Med Genet A. 2025 Dec; 197(12):e64207.. View in PubMed
  • Biophysically constrained dynamical modelling of the brain using multimodal magnetic resonance imaging. Brain Res Bull. 2025 Oct 15; 231:111541.. View in PubMed
  • Intrathecal dexamethasone for pediatric influenza-associated acute necrotizing encephalitis. Neurol Sci. 2025 Oct; 46(10):5537-5541.. View in PubMed
  • Cerebral Blood Flow Abnormalities in Down Syndrome Regression Disorder. Pediatr Neurol. 2025 Oct; 171:34-40.. View in PubMed
  • Hemodynamic volatility in children and young adults with down syndrome during procedural sedation. J Hypertens. 2025 Oct 01; 43(10):1695-1702.. View in PubMed
  • Jirō Suzuki (1924-1990). J Neurol. 2025 Sep 19; 272(9):633.. View in PubMed
  • Reversal of profound cortical atrophy with immunotherapy in pediatric anti-NMDA receptor encephalitis. J Neuroimmunol. 2025 Sep 15; 406:578649.. View in PubMed
  • Clinical Characterization and Long-Term Outcome in Children and Adults With Anti-AMPA Receptor Encephalitis. Neurol Neuroimmunol Neuroinflamm. 2025 Sep; 12(5):e200453.. View in PubMed
  • Neurobehavioural Patterns in the Diagnosis of Autism Spectrum Disorder in Down Syndrome. J Intellect Disabil Res. 2025 Sep; 69(9):809-821.. View in PubMed
  • Influenza-Associated Acute Necrotizing Encephalopathy in US Children. JAMA. 2025 08 26; 334(8):692-701.. View in PubMed
  • Effect of the COVID-19 Pandemic on the Quality of Life of Pediatric Patients with Myasthenia. J Child Neurol. 2025 Aug 26; 8830738251366857.. View in PubMed
  • Heterozygous Pathogenic Variants in SERPINB7 Potentially Associated With Concomitant Moyamoya Angiopathy and Nagashima-Type Palmoplantar Keratoderma. Am J Med Genet A. 2025 Aug; 197(8):e64058.. View in PubMed
  • Principles for Novel Neurologic Therapeutics: An AAN Position Statement. Neurology. 2025 Jul 22; 105(2):e213850.. View in PubMed
  • Pediatric Neurology Trainee Award. Pediatr Neurol. 2025 Jul; 168:A5-A6.. View in PubMed
  • Alternative Diagnoses in the Work Up of Down Syndrome Regression Disorder. J Autism Dev Disord. 2025 Jun; 55(6):2085-2091.. View in PubMed
  • Walter Edward Dandy (1886-1946). J Neurol. 2025 Jun 01; 272(6):437.. View in PubMed
  • EEG characteristics of central nervous system graft-versus-host disease. J Neurophysiol. 2025 Jun 01; 133(6):2029-2033.. View in PubMed
  • Diagnosis and Management of Children With Atypical Neuroinflammation. Neurology. 2025 May 13; 104(9):e213537.. View in PubMed
  • CNS manifestations in acute and chronic graft-versus-host disease. Brain. 2025 Apr 03; 148(4):1122-1133.. View in PubMed
  • Evidence of blood-brain barrier dysfunction and CSF immunoglobulin synthesis in Down Syndrome Regression Disorder. Ann Clin Transl Neurol. 2025 Apr; 12(4):805-820.. View in PubMed
  • Reflecting on progress, envisioning the future for research in Down syndrome. Lancet. 2025 Mar 20.. View in PubMed
  • Caregiver burden and familial impact in Down Syndrome Regression Disorder. Orphanet J Rare Dis. 2025 Mar 14; 20(1):126.. View in PubMed
  • Safety and Tolerability of Home Infusions in Down Syndrome Regression Disorder. Clin Ther. 2025 Feb; 47(2):e27-e33.. View in PubMed
  • Immunotherapy Responsive Recurrent Post-Infectious Ataxia Associated With Recurrent ATP2B2 Gene Variant. Neurol Genet. 2025 Feb; 11(1):e200239.. View in PubMed
  • Correction: Jean Aicardi (1926-2015). J Neurol. 2025 Jan 09; 272(1):105.. View in PubMed
  • Leber’s hereditary optic neuropathy and multiple sclerosis: overlap between mitochondrial disease and neuroinflammation. Front Neurol. 2025; 16:1538358.. View in PubMed
  • Anti-CD20 Therapy in Children With Severe Epstein-Barr Virus-Associated Meningoencephalitis. J Child Neurol. 2025 Jan; 40(1):61-66.. View in PubMed
  • Diagnostic abnormalities, disease severity and immunotherapy responsiveness in individuals with Down syndrome regression disorder. Sci Rep. 2024 12 28; 14(1):30865.. View in PubMed
  • Jean Aicardi (1926-2015). J Neurol. 2024 Nov; 271(11):7363-7365.. View in PubMed
  • JAK inhibition in Down Syndrome Regression Disorder. J Neuroimmunol. 2024 10 15; 395:578442.. View in PubMed
  • Isolated Psychiatric Symptoms in Children With Anti-N-Methyl-d Aspartate Receptor Encephalitis. Pediatr Neurol. 2024 Oct; 159:12-15.. View in PubMed
  • The Neurologist’s Guide to Drug Pricing in the United States. Continuum (Minneap Minn). 2024 Aug 01; 30(4):1259-1271.. View in PubMed
  • De novo variants in immune regulatory genes in Down syndrome regression disorder. J Neurol. 2024 Aug; 271(8):5567-5576.. View in PubMed
  • Sexual Health Education and Quality of Counseling in Pediatric-Onset Multiple Sclerosis. Pediatr Neurol. 2024 Aug; 157:108-113.. View in PubMed
  • The diagnostic workup of children with the radiologically isolated syndrome differs by age and by sex. J Neurol. 2024 Jul; 271(7):4019-4027.. View in PubMed
  • Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States. Cytotherapy. 2024 Jul; 26(7):739-748.. View in PubMed
  • Delayed initiation of disease modifying therapy increases relapse frequency and motor disability in pediatric onset multiple sclerosis. Mult Scler Relat Disord. 2024 Jul; 87:105669.. View in PubMed
  • Down Syndrome and Autoimmune Disease. Clin Rev Allergy Immunol. 2024 Jun; 66(3):261-273.. View in PubMed
  • Safety and tolerability of intravenous immunoglobulin infusion in Down syndrome regression disorder. Am J Med Genet A. 2024 05; 194(5):e63524.. View in PubMed
  • Bridging the Divide: An Integrated Neurobio-Psycho-Social Approach to Treating Antibody Negative Inflammatory Encephalitis in a School-Aged Child. Harv Rev Psychiatry. 2024 May-Jun 01; 32(3):101-116.. View in PubMed
  • Neuroimaging abnormalities associated with immunotherapy responsiveness in Down syndrome regression disorder. Ann Clin Transl Neurol. 2024 Apr; 11(4):1034-1045.. View in PubMed
  • Prescription Drug Prices: An AAN Position Statement. Neurology. 2024 Mar 12; 102(5):e209132.. View in PubMed
  • Neuropathologic Impacts of JAK Inhibitor Treatment in Aicardi-Goutières Syndrome. J Clin Immunol. 2024 02 21; 44(3):68.. View in PubMed
  • Rapidly progressive moyamoya vasculopathy stabilized with immunotherapy in aicardi-goutières syndrome. J Neurol. 2024 02; 271(2):1019-1022.. View in PubMed
  • A systematic review of the epidemiology of pediatric autoimmune encephalitis: disease burden and clinical decision-making. Front Neurol. 2024; 15:1408606.. View in PubMed
  • Diagnostic Yield of Epilepsy-Genes Sequencing and Chromosomal Microarray in Pediatric Epilepsy. Pediatr Neurol. 2024 Jan; 150:50-56.. View in PubMed
  • Brain Magnetic Resonance Imaging Abnormalities in Acute Flaccid Myelitis. Pediatr Neurol. 2023 12; 149:56-62.. View in PubMed
  • Ophthalmologic and neuro-ophthalmologic findings in children with Down syndrome. Am J Med Genet C Semin Med Genet. 2023 12; 193(4):e32068.. View in PubMed
  • Thiamine metabolism dysfunction syndrome 5 (THMD5) mimicking acute disseminated encephalomyelitis. Am J Med Genet A. 2023 12; 191(12):2868-2872.. View in PubMed
  • The Impact of Neuroimmunologic Disease and Developing Nervous System. Pediatr Neurol. 2023 Nov; 148:189-197.. View in PubMed
  • Hypovitaminosis D in persons with Down syndrome and autism spectrum disorder. J Neurodev Disord. 2023 10 25; 15(1):35.. View in PubMed
  • A Case of Pediatric Guillain-Barré Syndrome After Respiratory Syncytial Virus Infection. Pediatr Neurol. 2023 09; 146:129-131.. View in PubMed
  • Immunotherapy responsiveness and risk of relapse in Down syndrome regression disorder. Transl Psychiatry. 2023 08 08; 13(1):276.. View in PubMed
  • Publisher Correction: Patient Pathway to Diagnosis of Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease (MOGAD): Findings from a Multinational Survey of 204 Patients. Neurol Ther. 2023 Aug; 12(4):1103.. View in PubMed
  • Patient Pathway to Diagnosis of Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease (MOGAD): Findings from a Multinational Survey of 204 Patients. Neurol Ther. 2023 Aug; 12(4):1081-1101.. View in PubMed
  • Adverse childhood experiences and the development of Down syndrome regression disorder. Am J Med Genet A. 2023 07; 191(7):1769-1782.. View in PubMed
  • MRI Features and Their Association With Outcomes in Children With Anti-NMDA Receptor Encephalitis. Neurol Neuroimmunol Neuroinflamm. 2023 07; 10(4).. View in PubMed
  • Myelin Oligodendrocyte Glycoprotein (MOG) Associated Diseases: Updates in Pediatric Practice. Semin Pediatr Neurol. 2023 07; 46:101056.. View in PubMed
  • Your note, your way: how to write an inpatient progress note accurately and efficiently as an intern. Postgrad Med J. 2023 Jun 08; 99(1171):492-497.. View in PubMed
  • Attack phenotypes and disease course in pediatric MOGAD. Ann Clin Transl Neurol. 2023 05; 10(5):672-685.. View in PubMed
  • Innovating Therapies for Down Syndrome: An International Virtual Conference of the T21 Research Society. Mol Syndromol. 2023 Apr; 14(2):89-100.. View in PubMed
  • Pliny the Elder: Lessons from the Naturalist as an Early Neuroscientist. Neuroscientist. 2023 04; 29(2):150-157.. View in PubMed
  • Co-occurring conditions in children with Down syndrome and autism: a retrospective study. J Neurodev Disord. 2023 03 02; 15(1):9.. View in PubMed
  • Down syndrome regression disorder: updates and therapeutic advances. Curr Opin Psychiatry. 2023 03 01; 36(2):96-103.. View in PubMed
  • Immunotherapy Responsiveness and Risk of Relapse in Down Syndrome Regression Disorder. Res Sq. 2023 Feb 13.. View in PubMed
  • Immunotherapy responsive neuroinflammation in a child with FAS-associated death-domain mutation. Clin Genet. 2023 02; 103(2):252-253.. View in PubMed
  • Impact of endocrine dysregulation on disability and non-motor symptoms in pediatric onset multiple sclerosis. Front Neurol. 2023; 14:1304610.. View in PubMed
  • Association of rare variants in genes of immune regulation with pediatric autoimmune CNS diseases. J Neurol. 2022 Dec; 269(12):6512-6529.. View in PubMed
  • The Genetic Landscape of Ischemic Stroke in Children – Current Knowledge and Future Perspectives. Semin Pediatr Neurol. 2022 12; 44:100999.. View in PubMed
  • Child Neurology: Neurodegenerative Encephalomyelopathy Associated With ACOX1 Gain-of-Function Variation Partially Responsive to Immunotherapy. Neurology. 2022 08 23; 99(8):341-346.. View in PubMed
  • International Prevalence and Mechanisms of SARS-CoV-2 in Childhood Arterial Ischemic Stroke During the COVID-19 Pandemic. Stroke. 2022 08; 53(8):2497-2503.. View in PubMed
  • Triad of hypovitaminosis A, hyperostosis, and optic neuropathy in males with autism spectrum disorders. Nutr Neurosci. 2022 Aug; 25(8):1697-1703.. View in PubMed
  • Evidence of neuroinflammation and immunotherapy responsiveness in individuals with down syndrome regression disorder. J Neurodev Disord. 2022 06 03; 14(1):35.. View in PubMed
  • Intracranial Vascular Tortuosity in an Infant With Dysmorphic Facies. Pediatr Neurol. 2022 06; 131:20-22.. View in PubMed
  • Autoimmune Encephalitis. Pediatr Rev. 2022 Apr 01; 43(4):198-211.. View in PubMed
  • Acetazolamide-Challenged Arterial Spin Labeling Detects Augmented Cerebrovascular Reserve After Surgery for Moyamoya. Stroke. 2022 04; 53(4):1354-1362.. View in PubMed
  • Assessment and Diagnosis of Down Syndrome Regression Disorder: International Expert Consensus. Front Neurol. 2022; 13:940175.. View in PubMed
  • Early Onset Diffusion Abnormalities in Refractory Headache Disorders. Front Neurol. 2022; 13:898219.. View in PubMed
  • Prognostic indicators and outcomes of hospitalised COVID-19 patients with neurological disease: An individual patient data meta-analysis. PLoS One. 2022; 17(6):e0263595.. View in PubMed
  • Neurologic complications of Down syndrome: a systematic review. J Neurol. 2021 Dec; 268(12):4495-4509.. View in PubMed
  • Increased Prevalence of Familial Autoimmune Disease in Children With Opsoclonus-Myoclonus Syndrome. Neurol Neuroimmunol Neuroinflamm. 2021 11; 8(6).. View in PubMed
  • William Gordon Lennox (1884-1960). J Neurol. 2021 Sep; 268(9):3512-3513.. View in PubMed
  • MOG-IgG1 and co-existence of neuronal autoantibodies. Mult Scler. 2021 07; 27(8):1175-1186.. View in PubMed
  • Metabolic stroke-like episode in a child with FARS2 mutation and SARS-CoV-2 positive cerebrospinal fluid. Mol Genet Metab Rep. 2021 Jun; 27:100756.. View in PubMed
  • Underutilization of Contraception in Young Females with Demyelinating Disorders. Mult Scler Relat Disord. 2021 Jun; 51:102881.. View in PubMed
  • Myelin oligodendrocyte glycoprotein antibody encephalitis following severe acute respiratory syndrome coronavirus 2 in a pediatric patient. Clin Exp Pediatr. 2021 Jun; 64(6):310-312.. View in PubMed
  • Immunotherapy responsive SARS-CoV-2 infection exacerbating opsoclonus myoclonus syndrome. Mult Scler Relat Disord. 2021 May; 50:102855.. View in PubMed
  • Sleep positions in children with Down syndrome and obstructive sleep apnea. Sleep Med. 2021 05; 81:463-465.. View in PubMed
  • Post-infectious inflammatory syndrome associated with SARS-CoV-2 in a paediatric patient with Down syndrome. BMJ Case Rep. 2021 Apr 15; 14(4).. View in PubMed
  • Bell’s palsy in a pediatric patient with hyper IgM syndrome and severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Brain Dev. 2021 Feb; 43(2):357-359.. View in PubMed
  • Inadequate Vaccine Responses in Children With Multiple Sclerosis. Front Pediatr. 2021; 9:790159.. View in PubMed
  • Increased Autoimmunity in Individuals With Down Syndrome and Moyamoya Disease. Front Neurol. 2021; 12:724969.. View in PubMed
  • Use of electronic medical record templates improves quality of care for patients with infantile spasms. Health Inf Manag. 2021 Jan-May; 50(1-2):47-54.. View in PubMed
  • Wilhelm Uhthoff and Uhthoff’s phenomenon. Mult Scler. 2020 11; 26(13):1790-1796.. View in PubMed
  • Biotinidase Deficiency as a Mimic of Neuromyelitis Optica Spectrum Disorder in Childhood. JAMA Neurol. 2020 Oct 05.. View in PubMed
  • Pediatric Multiple Sclerosis Severity Score in a large US cohort. Neurology. 2020 09 29; 95(13):e1844-e1853.. View in PubMed
  • Down syndrome with co-occurring Marfan syndrome. BMJ Case Rep. 2020 Sep 23; 13(9).. View in PubMed
  • Genetic Acute Necrotizing Encephalopathy Associated with RANBP2: Clinical and Therapeutic Implications in Pediatrics. Mult Scler Relat Disord. 2020 Aug; 43:102194.. View in PubMed
  • Down Syndrome Disintegrative Disorder: A Clinical Regression Syndrome of Increasing Importance. Pediatrics. 2020 06; 145(6).. View in PubMed
  • Reader response: Characteristics of graduating US allopathic medical students pursuing a career in neurology. Neurology. 2020 04 28; 94(17):762-763.. View in PubMed
  • Jacques Jean Lhermitte and Lhermitte’s sign. Mult Scler. 2020 04; 26(4):501-504.. View in PubMed
  • HHV-6-Associated Neurological Disease in Children: Epidemiologic, Clinical, Diagnostic, and Treatment Considerations. Pediatr Neurol. 2020 04; 105:10-20.. View in PubMed
  • Children with epilepsy demonstrate macro- and microstructural changes in the thalamus, putamen, and amygdala. Neuroradiology. 2020 Mar; 62(3):389-397.. View in PubMed
  • Diminished Blood Pressure Profiles in Children With Down Syndrome. Hypertension. 2020 03; 75(3):819-825.. View in PubMed
  • A Probable Case of Recurrent Bickerstaff Brainstem Encephalitis With Fulminant Course in a Pediatric Patient. Neurologist. 2020 Jan; 25(1):14-16.. View in PubMed
  • Cluster Randomized Controlled Trial of Disability Education Module During Clinical Clerkship. Clin Pediatr (Phila). 2019 11; 58(13):1387-1393.. View in PubMed
  • Pioneers in neurology: Michel Jouvet (1925-2017). J Neurol. 2019 10; 266(10):2590-2591.. View in PubMed
  • Diagnostic Considerations in Acute Disseminated Encephalomyelitis and the Interface with MOG Antibody. Neuropediatrics. 2019 10; 50(5):273-279.. View in PubMed
  • Strokelike Episodes in a Patient With Chronic Gait Abnormalities. JAMA Neurol. 2019 05 01; 76(5):621-622.. View in PubMed
  • Safety, tolerability, and efficacy of fluoxetine as an antiviral for acute flaccid myelitis. Neurology. 2019 04 30; 92(18):e2118-e2126.. View in PubMed
  • Long-term Sequelae of Pediatric Bickerstaff Brainstem Encephalitis Includes Autonomic and Sleep Dysregulation. J Child Neurol. 2019 03; 34(3):153-160.. View in PubMed
  • Human herpesvirus 6 associated post-transplant acute limbic encephalitis: Clinical observations of biomarkers for risk of seizure in a pediatric population. Transpl Infect Dis. 2019 Feb; 21(1):e13003.. View in PubMed
  • Commentary. J Neurosci Rural Pract. 2019 Jan-Mar; 10(1):162-163.. View in PubMed
  • Ketamine use in refractory status epilepticus associated with anti-NMDA receptor antibody encephalitis. Epilepsy Behav Rep. 2019; 12:100326.. View in PubMed
  • Racial Bias in the US Opioid Epidemic: A Review of the History of Systemic Bias and Implications for Care. Cureus. 2018 Dec 14; 10(12):e3733.. View in PubMed
  • 50 Years Ago in The Journal of Pediatrics: Abnormally Small Head Size and Intellect in Children. J Pediatr. 2018 10; 201:159.. View in PubMed
  • Blood Pressure Elevation and Risk of Moyamoya Syndrome in Patients With Trisomy 21. Pediatrics. 2018 10; 142(4).. View in PubMed
  • Continued Presence of Period Limb Movements During REM Sleep in Patients With Chronic Static Pediatric Acute-Onset Neuropsychiatric Syndrome (PANS). J Clin Sleep Med. 2018 07 15; 14(7):1187-1192.. View in PubMed
  • Ethics of End of Life Decisions in Pediatrics: A Narrative Review of the Roles of Caregivers, Shared Decision-Making, and Patient Centered Values. Behav Sci (Basel). 2018 Apr 26; 8(5).. View in PubMed
  • Refractory focal epilepsy in a paediatric patient with primary familial brain calcification. Seizure. 2018 Mar; 56:50-52.. View in PubMed
  • Pediatric Bickerstaff brainstem encephalitis: a systematic review of literature and case series. J Neurol. 2018 Jan; 265(1):141-150.. View in PubMed
  • Edwin Bickerstaff (1920-2008). J Neurol. 2017 Mar; 264(3):619-620.. View in PubMed
  • Child Neurology Residency-Finding the Right Fit. Pediatr Neurol. 2017 02; 67:3-6.. View in PubMed
  • Assessing the Immunogenic Response of a Single Center’s Pneumococcal Vaccination Protocol in Sickle Cell Disease. J Pediatr Hematol Oncol. 2016 Apr; 38(3):e102-6.. View in PubMed
  • Iodine Supplementation for Pediatric Patients Receiving Long-Term Parenteral Nutrition. Nutr Clin Pract. 2016 Apr; 31(2):245-9.. View in PubMed
  • Multimodality Renal Failure in a Patient with OEIS Complex. AJP Rep. 2015 Oct; 5(2):e161-4.. View in PubMed

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