A5034725703- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Transcranial Magnetic Stimulation Studies
- Family and Disability Support Research
- Cerebral Palsy and Movement Disorders
- Genomics and Rare Diseases
- Neurological disorders and treatments
- Stroke Rehabilitation and Recovery
- Muscle activation and electromyography studies
- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Child Nutrition and Feeding Issues
- Botulinum Toxin and Related Neurological Disorders
- Vestibular and auditory disorders
- Intraoperative Neuromonitoring and Anesthetic Effects
- Neurogenetic and Muscular Disorders Research
- Metabolism and Genetic Disorders
- Cardiac electrophysiology and arrhythmias
- Motor Control and Adaptation
- Ubiquitin and proteasome pathways
- Ion channel regulation and function
- Neurological diseases and metabolism
- Genomic variations and chromosomal abnormalities
- Neuroscience and Neural Engineering
- Spinal Cord Injury Research
Gillette Children's Specialty Healthcare
2016-2025
John Wiley & Sons (United States)
2024
Hudson Institute
2024
Children's Hospital Colorado
2023
University of Colorado Denver
2023
University of Otago
2022
University Hospital Heidelberg
2022
Austin Health
2022
The University of Melbourne
2022
Northwestern University
2022
With the increasing number of genomic sequencing studies, hundreds genes have been implicated in neurodevelopmental disorders (NDDs). The rate gene discovery far outpaces our understanding genotype-phenotype correlations, with clinical characterization remaining a bottleneck for NDDs. Most disease-associated Mendelian are members families, and we hypothesize that those related molecular function share presentations.We tested hypothesis by considering families multiple an enrichment de novo...
Abstract Objective Recent advances in the understanding of neurodevelopmental disorders such as Rett syndrome (RTT) have enabled discovery novel therapeutic approaches that require formal clinical evaluation efficacy. Clinical trial success depends on outcome measures assess features are most impactful for affected individuals. To determine top concerns RTT and RTT-related we asked caregivers to list caregiver guide development selection appropriate these disorders. Methods Caregivers...
Aim The aim of this study was to determine the feasibility and efficacy five treatments 6 Hz primed, low‐frequency, repetitive transcranial magnetic stimulation (r TMS ) combined with constraint‐induced movement therapy ( CIMT promote recovery paretic hand in children congenital hemiparesis. Method Nineteen hemiparesis aged between 8 17 years (10 males, nine females; mean age 10 months, SD 2 months; M anual A bility C lassification S cale levels I ‐ III underwent sessions either real r n...
Transcranial direct current stimulation (tDCS) is a form of noninvasive brain that has shown improved adult stroke outcomes. Applying tDCS in children with congenital hemiparesis not yet been explored.The primary objective this study was to explore the safety and feasibility single-session through an adverse events profile symptom assessment within double-blind, randomized placebo-controlled preliminary hemiparesis. A secondary assess stability hand cognitive function.A...
Abstract Mutations in the X‐linked gene MECP2 are associated with a severe neurodevelopmental disorder, Rett syndrome (RTT), primarily girls. It had been suspected that mutations Methyl‐CpG‐binding protein 2 ( ) led to embryonic lethality males, however such males have reported. To enhance understanding of phenotypic spectrum present these individuals, we identified 30 RTT Natural History Study databases. A wide was observed, ranging from neonatal encephalopathy cognitive impairment. Two...
Rett syndrome is a genetically based neurodevelopmental disorder. Although the clinical consequences of are profound and lifelong, currently no approved drug treatments available specifically targeted to symptoms. High quality outcome measures, specific core symptoms disorder critical component well-designed trials for individuals with disorders. The Clinical Global Impression Scale measure global change strong face validity that has been widely used as an in central nervous system Despite...
Individuals with methyl CpG binding protein 2 (MECP2) duplication syndrome (MDS) have varying degrees of severity in their mobility, hand use, developmental skills, and susceptibility to infections. In the present study, we examine relationship between size, gene content, overall phenotype MDS using a clinical scale. Other genes typically duplicated within Xq28 (eg, GDI1, RAB39B, FLNA) are associated distinct features independent MECP2. We additionally compare this cohort (n = 48) other...
To investigate the safety/tolerability and exploratory efficacy of long-term treatment with trofinetide in girls aged 2–4 years Rett syndrome (RTT).
Childhood neurologic disorders, as a group, include relatively common conditions such migraine (prevalence between 3% and 10.6% in children 3–15 years of age1,2), transient tic disorders (TDs) (3%),3 specifically Tourette syndrome (TS) (0.8%),3 rarer infantile spasms that may occur only about 1,200 infants each year the United States. These account for disproportionately higher number emergency department visits, intensive care admissions, deaths, costs when compared to other childhood...
Neurorehabilitation interventions in children with unilateral cerebral palsy (UCP) target motor abilities daily life yet deficits hand skills persist. Limitations the less-affected may affect overall bimanual skills.To compare function, by timed performance on Jebsen-Taylor Test of Hand Function (JTTHF) and grip strength UCP to typical development (CTD), aged 8 18 years old. Exploratory analyses compared function measures regard neurophysiological outcomes measured transcranial magnetic...
Heterozygous de novo variants in the eukaryotic elongation factor EEF1A2 have previously been described association with intellectual disability and epilepsy but never functionally validated. Here we report 14 new individuals heterozygous variants. We validate multiple as protein-damaging using heterologous expression complementation analysis. Our findings allow us to confirm pathogenic broaden phenotypic spectrum include dystonia/choreoathetosis, some cases a degenerative course cerebral...
Trofinetide is the first available treatment for Rett syndrome (RTT) and approved in United States adults pediatric patients aged ≥2 years. The DAFFODIL study was conducted girls 2-4 years with RTT to examine safety, tolerability, efficacy of trofinetide validate that recommended dosage, according body weight, achieved target exposure. a phase 2/3, open-label consisting two periods (12 weeks [period A] ∼21 months B]). Pharmacokinetic samples were collected at regular intervals during period...
Perinatal stroke occurs in more than 1 2,500 live births and resultant congenital hemiparesis necessitates investigation into interventions which may improve long-term function decreased burden of care beyond current therapies ( http://www.cdc.gov/ncbddd/cp/data.html ). Constraint-Induced Movement Therapy (CIMT) is recognized as an effective rehabilitation intervention. Transcranial direct stimulation adjunct treatment to CIMT potentiate neuroplastic responses motor function. The methodology...
Transcranial direct current stimulation (tDCS) is increasingly researched as an adjuvant to motor rehabilitation for children with hemiparesis. The optimal method the primary cortex (M1) somatotopic localization tDCS electrode placement has not been established. objective, therefore, was determine location of M1 derived using 10/20 electroencephalography (EEG) system and transcranial magnetic (TMS) in hemiparesis (CWH) a comparison group typically developing (TDC). We hypothesized difference...
Non-invasive brain stimulation has been increasingly investigated, mainly in adults, with the aims of influencing motor recovery after stroke. However, a consensus on safety and optimal study design not established pediatrics. The low incidence reported major adverse events adults without clinical conditions expedited exploration NIBS children paralleled purposes to influence skill development neurological injury. Considering developmental variability children, or neurologic diagnosis, adult...
Abstract Patients with dystonia are particularly appropriate for diagnostic exome sequencing (DES), due to the complex, diverse features and genetic heterogeneity. Personal family history data were collected from test requisition forms medical records 189 patients reported available members received clinical DES. Of them, 20.2% had a positive finding associated dystonia. Detection rates cases isolated combined 22.4% 25.0%, respectively. 71.4% of cohort co‐occurring non‐movement‐related...
Abstract Background Rett syndrome (RTT) is a rare neurodevelopmental disorder associated with pathogenic MECP2 variants. Because the gene subject to X‐chromosome inactivation (XCI), factors including genotypic variation, tissue differences in XCI, and skewing of XCI all likely contribute clinical severity individuals RTT. Methods We analyzed patterns from blood samples 320 their mothers. It includes RTT ( n = 287) other syndromes sharing overlapping phenotypes (such as CDKL5 Deficiency...
Status epilepticus (SE) is a neurologic emergency that requires urgent recognition and medical management. SE management remains heterogeneous across centers. We analyzed treatment protocols from level 3 4 epilepsy Discrete data including stabilization measures, timing of phases, medications, doses, routes administration were collected each protocol described using frequency for categorical variables median continuous variables. The distribution times dosing compared with the AES guideline....
KCNH5 encodes the voltage-gated potassium channel EAG2/Kv10.2. We aimed to delineate neurodevelopmental and epilepsy phenotypic spectrum associated with de novo variants.We screened 893 individuals developmental epileptic encephalopathies for variants using targeted or exome sequencing. Additional were identified through an international collaboration. Clinical history, EEG, imaging data analyzed; seizure types syndromes classified. included 3 previously published including additional...