A5048819578- Obsessive-Compulsive Spectrum Disorders
- Epilepsy research and treatment
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- RNA Research and Splicing
- Complementary and Alternative Medicine Studies
- RNA regulation and disease
- Cerebrospinal fluid and hydrocephalus
- Botulinum Toxin and Related Neurological Disorders
- Infant Health and Development
- Autoimmune Neurological Disorders and Treatments
- Pharmacological Effects and Toxicity Studies
- Infectious Encephalopathies and Encephalitis
- Congenital heart defects research
- Long-Term Effects of COVID-19
- Body Image and Dysmorphia Studies
- Childhood Cancer Survivors' Quality of Life
- Electroconvulsive Therapy Studies
- Diphtheria, Corynebacterium, and Tetanus
- Spinal Dysraphism and Malformations
- Glycogen Storage Diseases and Myoclonus
- Attention Deficit Hyperactivity Disorder
- Migraine and Headache Studies
- Kawasaki Disease and Coronary Complications
Penn State Milton S. Hershey Medical Center
2016-2024
Pennsylvania State University
2021-2024
University of Missouri
2024
Hershey (United States)
2020
Cleveland Clinic
2013
Intrathecal baclofen (ITB) therapy is useful in treating spasticity and dystonia but it has many complications, more so children. The main aim of the study was to look at complications ITB pumps children with goal future prevention.Charts all patients ≤21 years an pump, implanted by a single pediatric neurosurgeon, center, between 1996 2011 were reviewed retrospectively. Data regarding test trial also recorded.During 1996-2011, 119 (mean age 13.2 years) underwent pump placement; 84% had...
Complementary and alternative medicine (CAM) use by the pediatric population with epilepsy in rural Pennsylvania was studied to characterize prevalence, perceived effectiveness, reasons for CAM use. This study additionally assessed adequacy of parent-physician communication regarding usage. A telephone survey administered 200 parents/caregivers children followed at Hershey Medical Center. Thirteen percent respondents indicated their child. Common types used were cannabis-related products...
(1) Background: Epilepsy is one of the most common chronic neurological disorders in childhood. Complementary and alternative medicine (CAM) use highly prevalent patients with epilepsy. Despite CAM’s widespread increasing popularity, its prevalence, forms, perceived benefits, potential risks pediatric epilepsy are rarely explored. (2) Methods: We performed a scoping review available literature on CAM (3) Results: Overall, global cross-sectional studies showed variable degree usage among...
Tourette syndrome is a neuropsychiatric condition defined by motor and phonic tics with onset in childhood. Many families have concerns regarding potential side effects of pharmacologic treatments, often difficulty accessing comprehensive behavioral intervention for tics. Patients caregivers may turn to complementary alternative medicine (CAM) as they perceive these "natural" therefore "safe." Although there are anecdotal reports an increased use CAM patients, the exact prevalence...
Introduction: Epilepsy is a neurological disorder characterized by the predisposition for recurrent unprovoked seizures. It can broadly be classified as focal, generalized, unclassified, and unknown in its onset. Focal epilepsy originates involves networks localized to one region of brain. Generalized engages broader, more diffuse networks. The etiology structural, genetic, infectious, metabolic, immune, or unknown. Many generalized epilepsies have presumed genetic etiologies. aim this study...
Pitt Hopkins-like syndrome 1 (PTHLS1, OMIM # 610042) is an ultra-rare autosomal recessive condition with a prevalence of <1/1,000,000. Intragenic deletions CNTNAP2 has been implicated in PTHLS1, however to our knowledge compound heterozygous deletion exon 4 and c.1977_1989del13; p.V660Ffsx9 frameshift variant have not published previously. In this case report, the proband seven year old female developmental delay, autism spectrum disorder, focal epilepsy, hypotonia, refractory errors,...
Multi-system Inflammatory Syndrome in Children (MIS-C) is a post infectious inflammatory syndrome following COVID infection. Previous case series have demonstrated that CNS involvement less common and presents heterogeneously. The describes an infant with initial presentation of refractory febrile status epilepticus. Genetic testing later showed multiple variants uncertain significance. patient met clinical criteria for MIS-C had markedly abnormal brain MRI bilateral diffuse restricted...
Infection-induced acute encephalopathy 3 (IIAE3) is an autosomal dominant disease resulting from a pathogenic variant in the RANBP2 gene. IIAE3 results susceptibility to recurrence of necrotizing (ANE1) which presents as bilateral symmetric thalamic, midbrain and/or hindbrain lesions that typically develops within 1-4 days post-acute viral infection, commonly occurring before age 6. 1-6 These case reports highlight retrospective analysis clinical data and radiographic studies on 2 ANE1 cases...
An 8-month-old boy presented with developmental delay, diffuse hypotonia, hypoplastic left heart syndrome, undescended testes, neonatal thrombocytopenia, and unusual facies. Chromosome microarray showed an 11q23-11q24 deletion, consistent Jacobsen syndrome (JS).
The exact prevalence of complementary and alternative medicine (CAM) use is not known in pediatric patients with neuromuscular diseases followed by any the 150 Muscular Dystrophy Association (MDA) Care Center Clinics nationwide. This study describes variety CAM usage this population, while also assessing caregiver disclosure perception provider support for CAM. Fifty-two caregivers seen at Penn State Health's Pediatric MDA Clinic completed our online survey. Overall, 19.2% reported their...
Most patients with idiopathic generalized epilepsy have good seizure control on antiseizure medications. Although subtypes such as juvenile absence and myoclonic a high risk of relapse, childhood may remission. After 2 years freedom in epilepsy, typically medications are discontinued, but follow-up protocols unclear. This study aims to evaluate how often undergo electroencephalography (EEG) after medication withdrawal, restarted based EEG findings, if this varies between physicians advanced...
A 17-year-old female with sickle cell disease status post a recent stem transplant and on tacrolimus developed an acute expressive aphasia, dysphagia, drooling. Brain MRI revealed diffuse restricted diffusion involving the bilateral corona radiata areas of white matter in right cerebral hemisphere most consistent toxic leukoencephalopathy. Tacrolimus serum concentration was high at 19.3 ng/ml (ref 9-12 ng/ml) for which discontinued. She neurologically back baseline 2 days later level...
We report a rare case of cardioembolic stroke in the setting supraventricular tachycardia (SVT) an infant. After week irritability, 10-week-old male presented to emergency department with SVT requiring treatment adenosine. He developed right-sided hemiparesis and focal motor seizures. Imaging brain showed ischemic infarct left middle cerebral artery (MCA) territory. Echocardiogram newly formed large atrial intracardiac thrombus. A coagulopathy workup was negative. treated beta-blocker...
Ophthalmoplegic migraine is considered to occur more commonly in children than adults. It affects the oculomotor nerve among cranial nerves. Demyelination of proposed as main mechanism for etiology ophthalmoplegic migraine, though it not fully understood. Neurovascular compression a cause has been well demonstrated children. In this report, we present case 13-year-old male with recurrent episodes left migraine. Oculomotor enhancement swelling was evident on MRI at exit zone. Magnetic...
BACKGROUND:The relatively new autoimmune disorder, anti-myelin oligodendrocyte glycoprotein (MOG) disease is particularly interesting because of its broad range presentations. This entity’s appearance on magnetic resonance imaging (MRI) the brain often makes identifying this a challenging process. Younger patients tend to present with an acute disseminated encephalomyelitis picture, encephalopathy and multifocal neurological signs, while older are more likely optic neuritis. We, however,...
Autosomal recessive intellectual developmental disorder type 5 (MRT5, OMIM # 611091) is caused by biallelic pathogenic variants, leading to loss of function the NSUN2 gene which encodes a methyltransferase involved in several biological processes, ranging from stress response neurodevelopment (Hussain 2021). The current literature shows that MRT5 typically manifests with disability, facial dysmorphism, juvenile cataracts, chronic nephritis, hearing impairment, seizures, cerebellar atrophy,...
OBJECTIVE: Individuals with Tourette syndrome (TS) often display co-morbid symptoms of attention-deficit hyperactivity disorder (ADHD) and obsessive-compulsive (OCD). The aim the study was to examine factors that predict long-term functional outcome patients TS, especially behavioral problems.
Abstract Posterior fossa hemorrhage (PFH) is a highly morbid condition in preterm and term infants. In this article, we aim to first describe case of PFH, using example, provide comprehensive narrative review the pathophysiology, risk factors, diagnosis, management PFH. Management may differ depending on etiology based careful consideration risks benefits surgical versus conservative management.