A5061524809- Muscle Physiology and Disorders
- Neurogenetic and Muscular Disorders Research
- Hereditary Neurological Disorders
- Epilepsy research and treatment
- Congenital Anomalies and Fetal Surgery
- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Genetic Neurodegenerative Diseases
- Cardiomyopathy and Myosin Studies
- Genetics and Neurodevelopmental Disorders
- Glycogen Storage Diseases and Myoclonus
- Autoimmune Neurological Disorders and Treatments
- Peripheral Neuropathies and Disorders
- Congenital heart defects research
- Genomic variations and chromosomal abnormalities
- Virus-based gene therapy research
- Amino Acid Enzymes and Metabolism
- Neuroscience and Neuropharmacology Research
- Genomics and Rare Diseases
- Peripheral Nerve Disorders
- Prosthetics and Rehabilitation Robotics
- Neurological disorders and treatments
- Nuclear Structure and Function
- Neonatal and fetal brain pathology
- Pharmaceutical Economics and Policy
Arkansas Children's Hospital
2018-2024
University of Arkansas for Medical Sciences
2018-2024
Indiana University
2024
National Institutes of Health
2024
The Ohio State University Wexner Medical Center
2024
University of Applied Management Studies
2022-2023
University of Louisville
2020
University of Rochester Medical Center
2013-2020
University of Miami
2020
University of Iowa
2019
Duchenne muscular dystrophy (DMD) is a rare, X-linked neuromuscular disease caused by pathogenic variants in the DMD gene that result absence of functional dystrophin, beginning at birth and leading to progressive impaired motor function, loss ambulation life-threatening cardiorespiratory complications. Delandistrogene moxeparvovec, an adeno-associated rh74-viral vector-based therapy, addresses absent dystrophin DMD. Here phase 3 EMBARK study aimed assess efficacy safety delandistrogene...
Abstract Background Although distinctive neuropsychological impairments have been delineated in children with chromosome 22q11 deletion syndrome (22q11DS), social skills and cognition remain less well‐characterised. Objective To examine their relationship function/behaviour psychiatric diagnoses 22q11DS. Methods Sixty‐six 22q11DS 54 control participants underwent testing were administered the Diagnostic Analysis of Non‐Verbal Accuracy (DANVA) for face auditory emotion recognition, a measure...
Abstract Background Data on combining molecular therapies that increase survival motor neuron protein for spinal muscular atrophy type 1 (SMA1) is lacking. Methods This was a retrospective study describing our centers' experiences in treating SMA1 patients with combination therapy. Results Five children received nusinersen and onasemnogene abeparvovec‐xioi (onasemnogene). Four were receiving prior to onasemnogene. Nusinersen continued three. Marked liver enzyme elevations resulted prolonged...
Clinical trials data concerning use of nusinersen in older spinal muscular atrophy (SMA) patients is lacking. We describe our center's experience using intrathecal for the clinical setting.Retrospective study.Twelve (12-52 years old) were treated with nusinersen. Mean follow-up duration was 17.4 months (range, 4-26 months). All had scoliosis; 10 fusion/instrumentation. procedures (30 cervical and 57 lumbar punctures) technically successful. The only side effects postprocedural headache (9%)...
BACKGROUND: Duchenne muscular dystrophy (DMD) is a rare, degenerative, recessive X-linked neuromuscular disease. Mutations in the gene encoding dystrophin lead to absence of functional protein. Individuals living with DMD exhibit progressive muscle weakness resulting loss ambulation and limb function, respiratory insufficiency, cardiomyopathy, multiorgan involvement. Adeno-associated virus vector-mediated therapy designed enable production protein new therapeutic strategy. Delandistrogene...
All authors have no conflicts of interest to disclose.
Abstract Objective The US risdiplam expanded access program (EAP; NCT04256265) was opened to provide individuals with Type 1 or 2 spinal muscular atrophy (SMA) who had no satisfactory treatment options prior commercial availability. designed collect safety data during treatment. Methods Patients were enrolled from 23 non‐preselected sites across 17 states and treated orally once daily. Eligible patients a 5q autosomal recessive SMA diagnosis, aged ≥2 months at enrollment, ineligible for...
<h3>Objective</h3> To report our experience delivering intrathecal nusinersen through cervical puncture in patients with spinal muscular atrophy (SMA) no lumbar access. <h3>Background</h3> SMA is a neuromuscular disorder characterized by profound muscle weakness, atrophy, and paralysis due to degeneration of the anterior horn cells. Nusinersen, first Food Drug Administration–approved treatment for SMA, administered intrathecally via puncture; however, many have scoliosis or solid fusion...
To evaluate safety and efficacy of RGX-202 in patients with Duchenne muscular dystrophy (DMD) aged 4 to 11 years.
Pharmacogenomics (PGx) is a growing field within precision medicine. Testing can help predict adverse events and sub-therapeutic response risks of certain medications. To date, the US FDA lists over 280 drugs which provide biomarker-based dosing guidance for adults children. At Arkansas Children’s Hospital (ACH), clinical PGx laboratory-based test was developed implemented to on 66 pediatric medications genotype-guided dosing. This consists 174 single nucleotide polymorphisms (SNPs)...
We report four patients with no preexisting movement disorders who developed oculogyric crises secondary to lamotrigine toxicity and had resolution of these after dose reduction. Episode numbers ranged from 1-20 per day episode duration 2 s several hours. Mean plasma concentration at the time crisis was 15.5 μg/mL, a mean 16 mg/kg day.
Pediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcal infection (PANDAS) and Acute-Onset syndrome (PANS) are presumed autoimmune complications of or other instigating events. To determine the incidence these disorders, we performed a retrospective review for years 2017-2019 at three academic medical centers.
Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by biallelic variants of the
Abstract Exercise intolerance with myalgia, muscle stiffness, and recurrent rhabdomyolysis due to mutations in the DMD gene can mimic metabolic myopathies leading delayed or inaccurate diagnoses. In this retrospective chart review, we report 3 unrelated boys exertional myoglobinuria, normal neurological examination an identical point mutation gene: a hemizygous T‐to‐C change exon 15 (c.1724T>C) resulting amino acid substitution of leucine proline at codon 575. Two had dystrophin...
Abstract Chromosome 22q11.2 deletion syndrome (22q11DS) is associated with numerous and variable clinical manifestations including conotruncal heart abnormalities, palatal anomalies, hypoparathyroidism, immune deficiency, cognitive deficits. The suspicion of this often heightened by the presence characteristic facial features. A previous report highlighted under‐diagnosis condition in African Americans, thought to be related a paucity typical We ascertained largest cohort (n = 50)...
Summary Purpose There is a gap in our knowledge of the factors that modulate predisposition to seizures following perinatal hypoxia. Herein, we investigate mouse model effects two distinct factors: developmental stage after occurrence insult, and presence seizure predisposing mutation. Methods Effects age : P 6 (postnatal day 6) pups were subjected acute hypoxia down 4% O 2 over course 45 min. Seizure susceptibilities flurothyl‐induced (single exposures) flurothyl kindling determined at...
To report our experience with cephalometry in evaluating velopharyngeal dysfunction (VPD) velocardiofacial syndrome (VCFS) and its utility assessing the role of cervical spine abnormalities VPD, prior to surgical correction VPD.Clinical charts cephalometric radiographs done surgery for VPD were retrospectively analyzed ascertain measurements abnormalities.Twenty-six patients (age: 6-23 years) molecularly confirmed VCFS.Wake Forest University Health Sciences (1997-2005).Cranial base angle,...
Semaphorins and plexins are ligands cell surface receptors that regulate multiple neurodevelopmental processes such as axonal growth guidance. PLXNA3 is a plexin gene located on the X chromosome encodes most widely expressed receptor in fetal brain, plexin-A3. Plexin-A3 knockout mice demonstrate its role semaphorin signaling vivo. The clinical manifestations of semaphorin/plexin disorders have been less explored. This study describes neurological phenotypes boys with maternally inherited...