A5036181204- Traumatic Brain Injury Research
- Autoimmune Neurological Disorders and Treatments
- Infectious Encephalopathies and Encephalitis
- Genetics and Neurodevelopmental Disorders
- Long-Term Effects of COVID-19
- Traumatic Brain Injury and Neurovascular Disturbances
- Peripheral Neuropathies and Disorders
- Child Abuse and Related Trauma
- Spine and Intervertebral Disc Pathology
- Intensive Care Unit Cognitive Disorders
- Aortic Disease and Treatment Approaches
- Functional Brain Connectivity Studies
- Ubiquitin and proteasome pathways
- Restraint-Related Deaths
- Hereditary Neurological Disorders
- Neonatal and fetal brain pathology
- Fetal and Pediatric Neurological Disorders
- Genomic variations and chromosomal abnormalities
- RNA regulation and disease
- Epilepsy research and treatment
- Cervical and Thoracic Myelopathy
- Autism Spectrum Disorder Research
- Congenital heart defects research
- Child Abuse and Trauma
- COVID-19 and Mental Health
Baylor College of Medicine
2017-2024
Texas Children's Hospital
2017-2024
Child Neurology Associates
2019
Institute of Developmental Physiology
2018
Kennedy Krieger Institute
2011-2017
Johns Hopkins University
2012-2017
Johns Hopkins Medicine
2013-2015
University of Baltimore
2014
The SYNGAP1 gene encodes for a small GTPase-regulating protein critical to dendritic spine maturation and synaptic plasticity. Mutations have recently been identified cause breadth of neurodevelopmental disorders including autism, intellectual disability, epilepsy. purpose this work is define the phenotypic spectrum mutations identify potential biomarkers clinical severity developmental progression. A retrospective data analysis individuals with was conducted. Data included genetic...
Prior studies have revealed remarkable phenotypic heterogeneity in KCNQ2-related disorders, correlated with effects on biophysical features of heterologously expressed channels. Here, we assessed phenotypes and functional properties associated KCNQ2 missense variants R144W, R144Q, R144G. We also explored vitro blockade channels carrying R144Q mutant subunits by amitriptyline.Patients were identified using the RIKEE database through clinical collaborators. Phenotypes collected a standardized...
Children infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) are generally asymptomatic or have mild symptoms low rates of hospitalization (<2%) and death (<0.03%).1 After initial infection, some children, including those who experienced disease, develop other postacute manifestations COVID, multisystem inflammatory in children (MIS-C, not discussed this statement) sequelae SARS-CoV-2 infection. The latter post-COVID condition may be known as long long-haul COVID-19,...
OBJECTIVES Survivors of the PICU face long-term morbidities across health domains. In this study, we detail active follow-up programs (PFUPs) and identify perceptions barriers about development maintenance PFUPs. METHODS A web link to an adaptive survey was distributed through organizational listservs. Descriptive statistics characterized sample details existing Likert responses regarding benefits were summarized. RESULTS One hundred eleven respondents represented 60 institutions located in...
This study examined functional connectivity of the default mode network (DMN) and brain-behavior relationships in a pilot cohort children with chronic mild to moderate traumatic brain injury (TBI).Compared uninjured peers, TBI demonstrated less anti-correlated between DMN right Brodmann Area 40 (BA 40). In TBI, more anomalous anti-correlated) BA was linked poorer performance on response inhibition tasks.Collectively, these preliminary findings suggest that may relate longterm outcomes pediatric TBI.
Current concussion evidence is derived largely from teenagers and adults. Concussion in younger children occurs within the context of neuromaturation, with differing age-based pathophysiological responses to injury. Therefore, our current understanding older adults unlikely directly apply children.To describe patient variables, clinical course, factors associated time discharge care 6-12 years age treated an interdisciplinary rehabilitation-based clinic.Retrospective chart...
PURPOSE: Functionally relevant alterations in resting state fMRI (rs-fMRI) connectivity have been identified adults with traumatic brain injury (TBI). We evaluated rs-fMRI children TBI and explored the relationship between altered measures of neurological f unction. METHODS: Rs-fMRI was obtained 14 after controls matched for age, sex, handedness. Whole-brain separately default mode network (DMN) dorsal attention (DAN); Between-group contrasts regions control cohorts. In TBI, relationships...
Cerebellar agenesis (CA) may result from both a genetically mediated as well disruptive etiology. In preterm neonates, the cerebellum is highly susceptible to injury. Different neuroimaging findings have been reported in disrupted cerebellar dev
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<h3>BACKGROUND AND PURPOSE:</h3> Abusive head trauma is the leading cause of morbidity and mortality in young children. Radiology provides valuable information for this challenging diagnosis, but no single neuroimaging finding independently diagnostic abusive trauma. Our purposes were to describe prevalence brain spine findings analyze association with clinical factors determine which may be used as prognostic indicators. <h3>MATERIALS METHODS:</h3> Children a confirmed diagnosis between...
<h3>Objective:</h3> To describe two rare cases of MOG-Ab Disease presenting with status epilepticus in pediatric patients. <h3>Background:</h3> Myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease is associated conditions such as optic neuritis and acute disseminated encephalomyelitis. A newer entity fluid-attenuated inversion recovery (FLAIR) imaging hyperintense cortical lesions MOG encephalitis seizures (FLAMES) has also been described. These patients typically present...
OBJECTIVES: To characterize variation in treatments and outcomes of pediatric patients admitted to children’s hospitals with acute disseminated encephalomyelitis (ADEM). METHODS: In this retrospective cohort study, we used data from the Pediatric Health Information System. Children &gt;30 days old who were hospitalized 2010 2015 ADEM included. Variables analyzed admission an ICU. Primary discharge disposition readmissions for relapses (ADEM readmissions) or continued comorbidities...
To increase formal autism spectrum disorder (ASD) diagnoses within a pediatric neurology division in large southern academic medical center.