Search Results - "Santoro, Jonathan D"
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Bell’s palsy in a pediatric patient with hyper IgM syndrome and severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)
Published in Brain & development (Tokyo. 1979) (01-02-2021)“…Bell’s palsy is an acute facial paralysis with known association to viral infections. We describe a medically complex 6-year-old male with hyper IgM syndrome…”
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Neurologic complications of Down syndrome: a systematic review
Published in Journal of neurology (01-12-2021)“…Down syndrome (DS) is one of the most well-recognized genetic disorders. Persons with DS are known to have a variety of co-morbid medical problems, affecting…”
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Alternative Diagnoses in the Work Up of Down Syndrome Regression Disorder
Published in Journal of autism and developmental disorders (16-08-2023)“…PURPOSEDown Syndrome Regression Disorder (DSRD) is a diagnosis of exclusion. Psychiatric and neuroimmunologic etiologies have been proposed although the exact…”
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Ethics of End of Life Decisions in Pediatrics: A Narrative Review of the Roles of Caregivers, Shared Decision-Making, and Patient Centered Values
Published in Behavioral sciences (26-04-2018)“…This manuscript reviews unique aspects of end of life decision-making in pediatrics. A narrative literature review of pediatric end of life issues was…”
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A systematic review of the epidemiology of pediatric autoimmune encephalitis: disease burden and clinical decision-making
Published in Frontiers in neurology (02-07-2024)“…Autoimmune encephalitis (AIE) comprises a group of rare, immune system-mediated conditions. Clinical manifestations among children are not well-characterized,…”
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Co-occurring conditions in children with Down syndrome and autism: a retrospective study
Published in Journal of neurodevelopmental disorders (02-03-2023)“…Down syndrome (DS) is one of the most common genetic causes of intellectual disability, and it is associated with an increased incidence of numerous…”
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Patient Pathway to Diagnosis of Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease (MOGAD): Findings from a Multinational Survey of 204 Patients
Published in Neurology and therapy (01-08-2023)“…Introduction Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is a rare demyelinating disorder of the central nervous system. Despite…”
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Assessment and Diagnosis of Down Syndrome Regression Disorder: International Expert Consensus
Published in Frontiers in neurology (15-07-2022)“…To develop standardization for nomenclature, diagnostic work up and diagnostic criteria for cases of neurocognitive regression in Down syndrome. There are no…”
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Evidence of neuroinflammation and immunotherapy responsiveness in individuals with down syndrome regression disorder
Published in Journal of neurodevelopmental disorders (03-06-2022)“…Down syndrome regression disorder is a symptom cluster consisting of neuropsychiatric regression without cause. This study evaluated the incidence of…”
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Metabolic stroke-like episode in a child with FARS2 mutation and SARS-CoV-2 positive cerebrospinal fluid
Published in Molecular genetics and metabolism reports (01-06-2021)“…The novel SARS-CoV-2 has infected over 48 million persons around the world. Children have been spared with regards to symptoms and sequelae of this highly…”
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Impact of endocrine dysregulation on disability and non-motor symptoms in pediatric onset multiple sclerosis
Published in Frontiers in neurology (07-12-2023)“…Pediatric onset multiple sclerosis (POMS) commonly occurs at the time of various endocrine changes. Evaluation of the impact of endocrine status on disease…”
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Hypovitaminosis D in persons with Down syndrome and autism spectrum disorder
Published in Journal of neurodevelopmental disorders (25-10-2023)“…Abstract Background Plasma levels of vitamin D have been reported to be low in persons with Down syndrome (DS) and existing data is limited to small and…”
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Increased Autoimmunity in Individuals With Down Syndrome and Moyamoya Disease
Published in Frontiers in neurology (08-09-2021)“…To determine if elevated rates of autoimmune disease are present in children with both Down syndrome and moyamoya disease given the high rates of autoimmune…”
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Early Onset Diffusion Abnormalities in Refractory Headache Disorders
Published in Frontiers in neurology (14-06-2022)“…Objective This study sought to determine if individuals with medically refractory migraine headache have volume or diffusion abnormalities on neuroimaging…”
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Immunotherapy responsiveness and risk of relapse in Down syndrome regression disorder
Published in Translational psychiatry (08-08-2023)“…Down syndrome regression disorder (DSRD) is a clinical symptom cluster consisting of neuropsychiatric regression without an identifiable cause. This study…”
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Ketamine use in refractory status epilepticus associated with anti-NMDA receptor antibody encephalitis
Published in Epilepsy & behavior reports (01-01-2019)“…Anti-N-methyl-D-aspartate receptor encephalitis (anti-NMDAr encephalitis) is an auto-immune disorder associated with the production of antibodies against NR1…”
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Attack phenotypes and disease course in pediatric MOGAD
Published in Annals of clinical and translational neurology (01-05-2023)“…Myelin oligodendrocyte glycoprotein antibody‐associated disease (MOGAD) is an autoimmune demyelinating condition that affects children differently than adults…”
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Child Neurology Residency – Finding the Right Fit
Published in Pediatric neurology (01-02-2017)Get full text
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