Jonathan Santoro

Assistant Professor of Clinical Neurology

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Publications

  • Safety and tolerability of intravenous immunoglobulin infusion in Down syndrome regression disorder Am J Med Genet A. 2024 May; 194(5):e63524. . View in PubMed
  • The diagnostic workup of children with the radiologically isolated syndrome differs by age and by sex J Neurol. 2024 Apr 02. . 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 Feb 21; 44(3):68. . View in PubMed
  • Neuroimaging abnormalities associated with immunotherapy responsiveness in Down syndrome regression disorder Ann Clin Transl Neurol. 2024 Feb 20. . View in PubMed
  • Rapidly progressive moyamoya vasculopathy stabilized with immunotherapy in aicardi-goutières syndrome J Neurol. 2024 Feb; 271(2):1019-1022. . 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
  • Ophthalmologic and neuro-ophthalmologic findings in children with Down syndrome Am J Med Genet C Semin Med Genet. 2023 Dec; 193(4):e32068. . View in PubMed
  • Brain Magnetic Resonance Imaging Abnormalities in Acute Flaccid Myelitis Pediatr Neurol. 2023 Dec; 149:56-62. . View in PubMed
  • The Impact of Neuroimmunologic Disease and Developing Nervous System Pediatr Neurol. 2023 Nov; 148:189-197. . View in PubMed
  • Alternative Diagnoses in the Work Up of Down Syndrome Regression Disorder J Autism Dev Disord. 2023 Aug 16. . 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
  • 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
  • Immunotherapy Responsiveness and Risk of Relapse in Down Syndrome Regression Disorder Res Sq. 2023 Feb 13. . 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
  • A Case of Pediatric Guillain-Barré Syndrome After Respiratory Syncytial Virus Infection Pediatr Neurol. 2023 09; 146:129-131. . 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
  • Myelin Oligodendrocyte Glycoprotein (MOG) Associated Diseases: Updates in Pediatric Practice Semin Pediatr Neurol. 2023 07; 46:101056. . 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
  • Attack phenotypes and disease course in pediatric MOGAD Ann Clin Transl Neurol. 2023 05; 10(5):672-685. . View in PubMed
  • Pliny the Elder: Lessons from the Naturalist as an Early Neuroscientist Neuroscientist. 2023 04; 29(2):150-157. . 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
  • Hypovitaminosis D in persons with Down syndrome and autism spectrum disorder J Neurodev Disord. 2023 10 25; 15(1):35. . 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
  • 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 Transl Psychiatry. 2023 08 08; 13(1):276. . 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
  • 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
  • Autoimmune Encephalitis Pediatr Rev. 2022 Apr 01; 43(4):198-211. . 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
  • 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
  • Intracranial Vascular Tortuosity in an Infant With Dysmorphic Facies Pediatr Neurol. 2022 06; 131:20-22. . 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
  • 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
  • Assessment and Diagnosis of Down Syndrome Regression Disorder: International Expert Consensus Front Neurol. 2022; 13:940175. . 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
  • Early Onset Diffusion Abnormalities in Refractory Headache Disorders Front Neurol. 2022; 13:898219. . View in PubMed
  • Neurologic complications of Down syndrome: a systematic review J Neurol. 2021 Dec; 268(12):4495-4509. . View in PubMed
  • William Gordon Lennox (1884-1960) J Neurol. 2021 Sep; 268(9):3512-3513. . View in PubMed
  • Underutilization of Contraception in Young Females with Demyelinating Disorders Mult Scler Relat Disord. 2021 Jun; 51:102881. . 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
  • 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
  • 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
  • Increased Prevalence of Familial Autoimmune Disease in Children With Opsoclonus-Myoclonus Syndrome Neurol Neuroimmunol Neuroinflamm. 2021 11; 8(6). . View in PubMed
  • MOG-IgG1 and co-existence of neuronal autoantibodies Mult Scler. 2021 07; 27(8):1175-1186. . View in PubMed
  • Sleep positions in children with Down syndrome and obstructive sleep apnea Sleep Med. 2021 05; 81:463-465. . 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
  • Inadequate Vaccine Responses in Children With Multiple Sclerosis Front Pediatr. 2021; 9:790159. . View in PubMed
  • Biotinidase Deficiency as a Mimic of Neuromyelitis Optica Spectrum Disorder in Childhood JAMA Neurol. 2020 Oct 05. . 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
  • Children with epilepsy demonstrate macro- and microstructural changes in the thalamus, putamen, and amygdala Neuroradiology. 2020 Mar; 62(3):389-397. . View in PubMed
  • Wilhelm Uhthoff and Uhthoff’s phenomenon Mult Scler. 2020 11; 26(13):1790-1796. . View in PubMed
  • Down Syndrome Disintegrative Disorder: A Clinical Regression Syndrome of Increasing Importance Pediatrics. 2020 06; 145(6). . 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
  • Jacques Jean Lhermitte and Lhermitte’s sign Mult Scler. 2020 04; 26(4):501-504. . View in PubMed
  • Diminished Blood Pressure Profiles in Children With Down Syndrome Hypertension. 2020 03; 75(3):819-825. . View in PubMed
  • Pediatric Multiple Sclerosis Severity Score in a large US cohort Neurology. 2020 09 29; 95(13):e1844-e1853. . 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
  • 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
  • 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
  • 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
  • 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
  • Safety, tolerability, and efficacy of fluoxetine as an antiviral for acute flaccid myelitis Neurology. 2019 04 30; 92(18):e2118-e2126. . View in PubMed
  • Strokelike Episodes in a Patient With Chronic Gait Abnormalities JAMA Neurol. 2019 05 01; 76(5):621-622. . 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
  • Commentary J Neurosci Rural Pract. 2019 Jan-Mar; 10(1):162-163. . 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
  • 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
  • Blood Pressure Elevation and Risk of Moyamoya Syndrome in Patients With Trisomy 21 Pediatrics. 2018 10; 142(4). . 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
  • Pediatric Bickerstaff brainstem encephalitis: a systematic review of literature and case series J Neurol. 2018 Jan; 265(1):141-150. . 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
  • 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
  • Pulmonary nocardiosis in an immunocompetent patient with cystic fibrosis Case Rep Pulmonol. 2015; 2015:984171. . View in PubMed
  • A case of invasive Streptococcus pneumoniae in an afebrile adolescent with sickle cell disease Clin Pediatr (Phila). 2013 Dec; 52(12):1173-5. . View in PubMed
  • A case of rhabdomyolysis in the presence of multiple risk factors and dextroamphetamine use Am J Med Sci. 2013 Jun; 345(6):494-6. . View in PubMed
  • Diagnosis and management of urinary tract infections in neonates and young infants Clin Pediatr (Phila). 2013 Feb; 52(2):111-4. . View in PubMed