Marc DiFazio

ORCID: 0000-0002-9304-3098
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About
Contact & Profiles
Research Areas
  • Botulinum Toxin and Related Neurological Disorders
  • Epilepsy research and treatment
  • Genomic variations and chromosomal abnormalities
  • Genetics and Neurodevelopmental Disorders
  • Pain Mechanisms and Treatments
  • Infectious Encephalopathies and Encephalitis
  • Telemedicine and Telehealth Implementation
  • Neurological disorders and treatments
  • Genomics and Rare Diseases
  • Pharmacological Effects and Toxicity Studies
  • Congenital Ear and Nasal Anomalies
  • Fetal and Pediatric Neurological Disorders
  • Hereditary Neurological Disorders
  • Prenatal Screening and Diagnostics
  • Viral Infections and Immunology Research
  • RNA regulation and disease
  • Neurological and metabolic disorders
  • Streptococcal Infections and Treatments
  • Neuroscience and Neuropharmacology Research
  • Digital Mental Health Interventions
  • Viral gastroenteritis research and epidemiology
  • Glycogen Storage Diseases and Myoclonus
  • Traumatic Brain Injury Research
  • Rabies epidemiology and control
  • Ophthalmology and Eye Disorders

Children's National
2014-2022

Centeno-Schultz Clinic
2021

Montgomery County Department of Health and Human Services
2016

Shady Grove Fertility Center
2015

Adventist HealthCare Shady Grove Medical Center
2006-2011

Pediatrics and Genetics
2009

Bridge University
2009

Walter Reed Army Institute of Research
1998-2008

Uniformed Services University of the Health Sciences
2003-2007

Madigan Army Medical Center
2007

The current treatment of concussion or mild traumatic brain injury (mTBI) is primarily based on expert consensus. Most clinical practice guidelines advise cognitive and physical rest after including withdrawal from normal life activities such as school attendance, sports participation, technology use until symptoms resolve. Some individuals who sustain an mTBI experience persistent physical, cognitive, mental health problems. Activity restriction itself may contribute to protracted recovery...

10.1177/0009922815589914 article EN Clinical Pediatrics 2015-06-29

Neurodevelopmental disorders (NDD) are common, with 1–3% of general population being affected, but the etiology is unknown in most individuals. Clinical whole‐exome sequencing (WES) has proven to be a powerful tool for identification pathogenic variants leading Mendelian disorders, among which NDD represent significant percentage. Performing WES trio‐approach extremely effective identifying de novo as common cause NDD. Here we report six unrelated individuals phenotype consisting severe...

10.1002/ajmg.a.37670 article EN American Journal of Medical Genetics Part A 2016-05-02

Rotavirus infection is a frequent cause of gastroenteritis in children and accounts for significant morbidity mortality, especially the developing world. Less well recognized association rotavirus-induced central nervous system dysfunction, which has been associated with seizure, encephalopathy, death. Symptoms may vary widely, however, can experience short afebrile convulsions as only manifestation rotavirus encephalopathy. We report 4 further cases seizures mild neurologic manifestations....

10.1177/0883073807307083 article EN Journal of Child Neurology 2007-12-01

Objective. To report the effect of botulinum toxin A in two patients with burning pain and allodynia spinal cord origin. Design, Setting, Patients. Two lesions at cervical level (tumor stroke) experienced exquisite skin sensitivity spontaneous dermatomes corresponding to lesions. Botulinum (Botox®) was injected subcutaneously multiple points (16 20 sites, 5 units/site) area allodynia. Results. Both reported significant improvement visual analogue scale clinical measures. The analgesic lasted...

10.1046/j.1526-4637.2003.03013.x article EN Pain Medicine 2003-06-01

Objective. To study the short- and long-term effects of botulinum neurotoxin A (BoNT-A, Botox®, Allergan Inc.) on refractory chronic low back pain.

10.1111/j.1526-4637.2006.00147.x article EN Pain Medicine 2006-05-01

Objectives The aim of this study was to evaluate the effects two successive neurotoxin treatments for chronic low back pain using multiple rating scales in an open-label, prospective study. Methods Adult patients with received paraspinal muscle injections a maximum dosing 500 units botulinum A toxin per session. Those beneficial clinical response second treatment at 4 months. Pain assessed by visual analog scale (VAS), modified questionnaire (OLBPQ), and (CLBPQ) baseline, 3 weeks, 2 months,...

10.1097/01.ajp.0000174267.06993.3f article EN Clinical Journal of Pain 2006-05-01

Gelastic epilepsy, or laughing seizures, is a rare seizure manifestation often associated with hypothalamic hamartoma. This type well described in older children and adults, but has only rarely been reported neonates, oftentimes recognized retrospect when the are older. We report child diagnosed at 3 months of age large mass after evaluation for spells occurring since birth. The were characterized by bursts hyperpnea, followed repeated "cooing" respirations, giggling, smiling. These soon...

10.1177/088307380001500611 article EN Journal of Child Neurology 2000-06-01

Background Despite the high burden of rheumatic heart disease in sub-Saharan Africa, diagnosis with acute fever (ARF) is exceedingly rare. Here, we report results first prospective epidemiologic survey to diagnose and characterize ARF at community level Africa. Methods Results A cross-sectional study was conducted Lira, Uganda, inform design a broader survey. Key messages were distributed community, children aged 3 17 years included if they had either (1) joint pain, (2) suspicion carditis,...

10.1161/jaha.120.016053 article EN cc-by-nc-nd Journal of the American Heart Association 2020-07-29

We report the effective use of injected BTX-A to treat refractory restless legs syndrome (RLS).This is an observational case series 3 patients meeting essential diagnostic criteria for RLS whose symptoms were or who refused oral medication. Areas maximal discomfort as described below.Patient #1, a 58-year-old man with RLS, received injections in both legs. The effect persisted 12 weeks after injections. He temporarily stopped taking gabapentin. experienced mild increase timed run. Patient...

10.5664/jcsm.26585 article EN Journal of Clinical Sleep Medicine 2006-07-15

Intracranial fibromuscular dysplasia is a nonatheromatous angiopathy that most commonly affects adult women and rarely recognized in children. Symptoms include stroke headache, although the vasculopathy may be asymptomatic. Diagnosis based on angiographic appearance, described as "string of beads." The etiology intracranial not known, possible causes genetic predisposition, trauma, underlying connective tissue disease. Treatment largely supportive once symptoms become manifest. We report...

10.1177/088307380001500814 article EN Journal of Child Neurology 2000-08-01

The 2019 novel coronavirus disease (COVID-19) pandemic produced an abrupt and near shutdown of nonemergent patient care. Children's National Hospital (CNH) mounted a multidisciplinary, coordinated ambulatory response that included supply chain management, human resources, risk infection control, information technology. To ensure access, CNH expanded telemedicine instituted operational innovations for outpatient procedures. While monthly in-person subspecialty visits decreased from 25 889...

10.1097/jac.0000000000000378 article EN Journal of Ambulatory Care Management 2021-03-27

Paroxysmal tonic upgaze of childhood is an eye movement abnormality characterized by periodic episodes conjugate upward deviation. Although the spectrum paroxysmal has broadened considerably, a specific pathophysiology not been elucidated. We report infant with who presented to his pediatrician associated hypotonia and gross motor delay. High-resolution chromosome analysis demonstrated supernumerary dicentric bisatellited marker chromosome. Analysis revealed partial tetrasomy 15q. Given...

10.1177/08830738050200021601 article EN Journal of Child Neurology 2005-02-01

Delivery of mental health treatment in the home can close gaps care. Telehealth also provides access to healthcare that has been disrupted due COVID-19 pandemic. In 2016, a direct-to-consumer telehealth program was initiated. Mental encounters made up significant portion all and had impact on accelerating utilization telehealth. Telemental more successful at meeting targeted volumes than overall system. Of diagnoses before during COVID-19, attention deficit hyperactivity disorder, Autism...

10.1177/13591045211064134 article EN Clinical Child Psychology and Psychiatry 2021-12-20

An unbalanced 46,XY,der(2)del(2)(p11.2p13) inv(2)(p11.2q13) karyotype was found in a phenotypically abnormal child with de novo interstitial deletion of band 2p12 associated an inherited from the father. The inv(2) is generally considered benign familial variant without significant reproductive consequences. However, our findings led us to consider previously proposed mechanism unequal meiotic crossing over at base parental inversion loop, which could lead either or duplication segment...

10.1002/(sici)1096-8628(19991119)87:2<139::aid-ajmg5>3.0.co;2-j article EN American Journal of Medical Genetics 1999-11-19

Abstract Movement disorders or basal ganglia injury have not been reported as complications of the ketogenic diet, an alternative treatment for intractable epilepsy. We report on a novel complication diet manifesting severe extrapyramidal movement disorder and bilateral putaminal lesions. A single case is described. video demonstrating included. 5‐year‐old girl with cryptogenic epileptic encephalopathy developed focal dystonia, diffuse chorea, ataxia after starting diet. Cranial magnetic...

10.1002/mds.10372 article EN Movement Disorders 2002-12-23

Abstract Nonconvulsive Status Epilepticus (NCSE) is not uncommon in children, and can be challenging to diagnose treat. Etiologies vary widely include infection, trauma acute withdrawal from medications such as anticonvulsants. We report a child who experienced orofacial dyskinesias concerning for NCSE after high dose benzodiazepines andopiates. Automonic signs typically associated with sedative were absent treatment did improve his symptoms. Diagnostic testing was negative, including...

10.1002/mds.21260 article EN Movement Disorders 2007-03-21

### Case report. A 12-year-old boy with multiple nevi presented 6 months of polydipsia (>4 L/day), polyuria, and a 40-pound weight loss that progressed over weeks to intractable headache vomiting. The patient subsequently developed ataxia, complex partial seizures, encephalopathy. Medical history was significant for numerous (40 50) benign congenital ranging in diameter from 1 10 cm. He did not have previous diagnosis neurocutaneous melanosis (NCM) or CNS disease. initial workup revealed...

10.1212/01.wnl.0000262055.45315.f6 article EN Neurology 2007-05-22

Clobazam, a 1-5 benzodiazepine, was introduced in the 1970s for treatment of anxiety and agitation. Antiepileptic properties were recognized, efficacy number epilepsy syndromes demonstrated humans, with good tolerance. Recent reviews are generally favorable, relative minimum medication-related side effects. However, benzodiazepines have been associated causing hypothermia. To date, this effect has not reported clobazam. We report two cases profound hypothermia use medication epilepsy. Both...

10.4236/nm.2014.51003 article EN Neuroscience &amp Medicine 2014-01-01
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