A5029317319- Cerebral Palsy and Movement Disorders
- Sphingolipid Metabolism and Signaling
- Telemedicine and Telehealth Implementation
- Genetics and Neurodevelopmental Disorders
- Cholinesterase and Neurodegenerative Diseases
- Genomics and Rare Diseases
- Botulinum Toxin and Related Neurological Disorders
- Autism Spectrum Disorder Research
- Neurological disorders and treatments
- Neurogenetic and Muscular Disorders Research
- Mental Health Research Topics
- Enzyme function and inhibition
- Stroke Rehabilitation and Recovery
- Parkinson's Disease Mechanisms and Treatments
- Patient Satisfaction in Healthcare
- Endoplasmic Reticulum Stress and Disease
- Collaborative Teaching and Inclusion
- Teacher Education and Leadership Studies
- Protein Degradation and Inhibitors
- HER2/EGFR in Cancer Research
- Anxiety, Depression, Psychometrics, Treatment, Cognitive Processes
- Radiopharmaceutical Chemistry and Applications
- Respiratory viral infections research
- Mitochondrial Function and Pathology
- Perfectionism, Procrastination, Anxiety Studies
National Center for PTSD
2018-2024
Vanderbilt University Medical Center
2019-2023
University of Alabama
2023
The University of Adelaide
2018-2023
Women's and Children's Health Network
2022-2023
VA Boston Healthcare System
2018-2022
Robinson Memorial Hospital
2022
University of Ottawa
2020
Canisius College
2013-2020
University of North Carolina at Greensboro
2018-2020
Germline loss-of-function variants in CTNNB1 cause neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV; OMIM 615075) are the most frequent, recurrent monogenic of cerebral palsy (CP). We investigated range clinical phenotypes owing to disruptions determine association between NEDSDV CP.Genetic information from 404 individuals collectively 392 pathogenic were ascertained for study. From these, detailed 52 previously unpublished collected combined 68 published...
Children with chronic medical conditions are at increased risk of severe influenza. Uptake influenza vaccination in children and adolescents these identified special (SRMCs) is suboptimal.To assess the effectiveness Flutext-4U, a parent short message service (SMS) reminder nudge intervention, increasing immunization SRMCs.This randomized clinical trial was conducted tertiary pediatric hospital Adelaide, South Australia, from April 15 to September 30, 2021. aged 6 months younger than 18 years...
Cerebral palsy (CP) is the most frequent movement disorder of childhood affecting 1 in 500 live births developed countries. We previously identified likely pathogenic de novo or inherited single nucleotide variants (SNV) 14% (14/98) trios by exome sequencing and a further 5% (9/182) from evidence outlier gene expression using RNA sequencing. Here, we detected copy number (CNV) exomes 186 unrelated individuals with CP (including our original 98 trios) CoNIFER algorithm. CNV were validated...
Abstract Cerebral palsy (CP) is the most common cause of childhood physical disability, with incidence between 1/500 and 1/700 births in developed world. Despite increasing evidence for a major contribution genetics to CP aetiology, genetic testing currently not performed systematically. We assessed diagnostic rate genome sequencing (GS) clinically unselected cohort 150 singleton patients, confirmed at >4 years age. Clinical grade GS was on proband variants were filtered, classified...
A growing body of evidence points to a considerable and heterogeneous genetic aetiology cerebral palsy (CP). To identify recurrently variant CP genes, we designed custom gene panel 112 candidate genes. We tested 366 clinically unselected singleton cases with CP, including 271 not previously examined using next-generation sequencing technologies. Overall, 5.2% the naïve (14/271) harboured clinical significance in known disease gene, further 4.8% individuals (13/271) having classified as...
Cerebral palsy (CP) is the most common motor disability of childhood. It characterised by permanent, non-progressive but not unchanging problems with movement, posture and function, a highly heterogeneous clinical spectrum frequent neurodevelopmental comorbidities. The aetiology CP poorly understood, despite recent reports genetic contribution in some cases. Here we demonstrate transcriptional dysregulation trophic signalling pathways patient-derived cell lines from an unselected cohort 182...
Abstract SLITRK2 is a single-pass transmembrane protein expressed at postsynaptic neurons that regulates neurite outgrowth and excitatory synapse maintenance. In the present study, we report on rare variants (one nonsense six missense variants) in X chromosome identified by exome sequencing individuals with neurodevelopmental disorders. Functional studies showed some displayed impaired membrane transport synapse-promoting effects. Strikingly, these variations abolished ability of wild-type...
Human parturition is associated with a modification in the sensitivity of myometrium to progesterone. The molecular basis for this change, however, remains unclear. It well documented that progesterone can exert its effects through non-genomic mechanisms, including acting membrane-bound receptors (mPRs). Recently, novel PR, termed mPRα, was cloned. mPRα unlike any other PR databases, but it seen have significant homology G-protein-coupled (GPCR). In study, we examined spatio-temporal...
This study aimed to demonstrate that teleneurology consultations conducted via tablet technology are an efficient and cost-effective means of managing acute neurologic emergencies at community-based hospitals utilizing such yields high community physician satisfaction.During a 39-month period, Vanderbilt University Medical Center in Tennessee USA, provided services 10 lacked adequate neurology coverage. Hospitalists one hospital were not comfortable treating any patient with symptom,...
Transgender and gender diverse (TGD) people are at heightened risk of both Criterion A trauma exposure other bias-related minority stressors (e.g., discrimination, rejection). In the absence a unified trauma-minority stress theory, it remains unclear how to best conceptualize psychopathology for who experience stress.Using participant-driven q-sort methodology network analytic approach, we analyzed card sort data from 18 TGD 16 providers with expertise in care derive thematic networks...
Background: Telehealth has proliferated since the 1950s, but adoption and coverage of telehealth services for U.S. public have been slow. In response to coronavirus disease 2019 (COVID-19) pandemic, federal government implemented temporary policy changes that removed barriers catalyzed unprecedented telehealth. Methods: To assess ambulatory teleneurology satisfaction, we analyzed postvisit questionnaire data from patients clinicians who completed visits during COVID-19 pandemic at Vanderbilt...
Transgender and gender diverse (TGD) individuals are disproportionately exposed to traumatic high-impact minority stressors which can produce an array of transdiagnostic symptoms. Some clinical presentations align well with established evidence-based treatments, but others may require patient-centered modifications or combined approaches address treatment needs. In this study, we employed a novel, bottom-up approach derive insights into preferred intervention strategies for broad range...
To evaluate the performance of telehealth as a screening tool for spasticity compared to direct patient assessment in long-term care setting.Cross-sectional, observational study.Two facilities: 140-bed veterans' home and 44-bed state individuals with intellectual developmental disabilities.Sixty-one adult residents two facilities (aged 70.1 ± 16.2 years) were included this analysis. Spasticity was identified 43% subjects (Modified Ashworth Scale rating mode = 2). Contributing diagnoses...
The aging US population has led to the increased prevalence of neurodegenerative diseases and critical need for specialists with advanced training in management these conditions. Focus on Common Movement Disorders (FOCMD), a 2-day educational course hosted by Vanderbilt University, was started 16 years ago provide neurology residents exposure diagnosis treatment movement disorders.
Spasticity is common in long-term care facilities; however, this often-disabling condition largely underdiagnosed setting and therefore left untreated. This study aimed to test the ability of a three-question flowchart used at bedside by primary providers identify residents need referral specialist for spasticity consultation.All single facility were approached participation cross-sectional, observational study. diagnostic evaluations movement disorders neurologist (reference standard)...