A5081857240- Neurofibromatosis and Schwannoma Cases
- Vascular Malformations Diagnosis and Treatment
- Meningioma and schwannoma management
- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Neuroblastoma Research and Treatments
- Viral Infections and Immunology Research
- Chromatin Remodeling and Cancer
- Glioma Diagnosis and Treatment
- Down syndrome and intellectual disability research
- Soft tissue tumor case studies
- Congenital heart defects research
- Respiratory viral infections research
- Genomic variations and chromosomal abnormalities
- Neurological Complications and Syndromes
- Peripheral Neuropathies and Disorders
- Polyomavirus and related diseases
- Neuroinflammation and Neurodegeneration Mechanisms
- Neuroscience and Music Perception
- Urban Agriculture and Sustainability
- Cervical Cancer and HPV Research
- Fish biology, ecology, and behavior
- Human-Animal Interaction Studies
- Diverse Music Education Insights
- Retinal Development and Disorders
Center for Autism and Related Disorders
2024-2025
Kennedy Krieger Institute
2023-2025
St. Louis Children's Hospital
2024
Washington University Medical Center
2024
Newcastle University
2023
Johns Hopkins University
2023
Washington University in St. Louis
2016-2022
Durham University
2021
Mallinckrodt (United States)
2020
Northwestern University
2017
<h3>Importance</h3> Recent reports have demonstrated a higher incidence of autism spectrum disorder (ASD) and substantially elevated autistic trait burden in individuals with neurofibromatosis type 1 (NF1). However, important discrepancies regarding the distribution traits, sex predominance, association between ASD symptoms attentional problems emerged, critical features phenotype within NF1 never been adequately explored. Establishing as monogenic cause for has implications affected...
To define the clinical and radiologic features of brainstem gliomas (BSGs) in children with neurofibromatosis type 1 (NF1).We performed a retrospective cross-sectional study 133 NF1 concurrent BSGs cared for at 4 referral centers. BSG was determined using radiographic criteria. Age diagnosis, tumor location appearance, symptoms, treatment, presence optic pathway glioma were assessed.The average age diagnosis 7.2 years, tumors occurred most often midbrain medulla (66%). The majority NF1-BSGs...
Neurodevelopmental disorders are often caused by chromosomal microdeletions comprising numerous contiguous genes. A subset of neurofibromatosis type 1 (NF1) patients with severe developmental delays and intellectual disability harbors such a microdeletion event on chromosome 17q11.2, involving the NF1 gene flanking regions (NF1 total deletion [NF1-TGD]). Using patient-derived human induced pluripotent stem cell (hiPSC)-forebrain cerebral organoids (hCOs), we identify both neural (NSC)...
Fragile X syndrome (FXS), the most common inherited cause of intellectual disability, learning and autism spectrum disorder, is associated with an increased prevalence certain medical conditions including seizures. The goal this study was to better understand seizures in individuals FXS using Online Registry Accessible Research Database, a multisite observational initiated 2012 involving clinics Clinic Consortium. Seizure data were available for 1,607 participants, mostly male (77%) white...
Learning difficulties are frequently reported in children with neurofibromatosis type 1 (NF1), yet little is known about the extent and predictors of their academic functions across ages. We aimed to examine developmental patterns achievement these from childhood adolescence how differ demographic NF1-related disease factors. This cross-sectional study integrated data 1512 NF1 (mean age, 11.2 years, SD, 3.62, range, 3-18, 46.5% female patients) 8 institutions. Academic functioning was...
Individuals with neurofibromatosis type 1 (NF1) are prone to the evolution of neurodevelopmental symptomatology including motor delays, learning disabilities, autism, and attention deficits. Caused by heterozygous germline mutations in NF1 gene, this monogenic condition offers unique opportunities study genetic etiologies for disorders mechanisms that underlie their formation. Although numerous small animal models have been generated elucidate causes these alterations, there is little...
We sought to define the radiologic features that differentiate neoplastic from non-neoplastic T2 hyperintensities (T2Hs) in neurofibromatosis type 1 (NF1) and identify those lesions most likely require oncologic surveillance.We conducted a single-center retrospective review of all available brain MRIs 68 children with NF1 (n = 190) 46 healthy pediatric controls 104). All T2Hs identified on MRI were characterized based location, border, shape, degree T1 hypointensity, presence mass effect or...
To ascertain the relationship between germline NF1 gene mutation and glioma development in patients with neurofibromatosis type 1 (NF1).The location of presence a was analyzed 37 participants from one institution (Washington University School Medicine [WUSM]) clinical diagnosis NF1. Odds ratios (ORs) were calculated using both unadjusted weighted analyses this data set combination 4 previously published sets.While no statistical significance observed WUSM cohort, power calculations revealed...
Children with neurofibromatosis type 1 (NF1) are at increased risk of developing autism spectrum disorder (ASD), approximately 13% individuals displaying severe-range elevations in quantitative autistic trait (QAT) burden measured using the Social Responsiveness Scale, 2nd Edition (SRS-2).1 While there no established factors for ASD children NF1, recent studies have revealed that first-degree family members NF1 concordant QAT severity.1,2 These findings suggest a high degree mutational...
To characterize the adaptive behavior profile of children with neurofibromatosis type 1 (NF1) and determine its relationship to neuropsychological functioning non-neoplastic T2-weighted hyperintense brain lesions on magnetic resonance imaging (MRI).In this cross-sectional study, we retrospectively reviewed reports from 104 NF1 (56 males, 48 females; mean age 10y 4mo; standard deviation [SD] 3y range 5mo-17y 6mo), extracted data a cognitive behavioral measures, including Adaptive Behavior...
To define the radiologic features and natural history of nonoptic pathway tumors (non-OPTs) in children with neurofibromatosis type 1 (NF1).
Abstract Background Low-grade gliomas (LGGs) occurring in children can result many different neurologic complications, including seizures. MEK inhibitors are increasingly being used to treat LGG, but their effect on associated symptoms has not been established. Results Here, we report a patient with neurofibromatosis type 1 (NF1), medically refractory epilepsy (MRE), and an extensive optic pathway glioma (OPG) who developed dose-dependent seizure control while treated selumetinib. Seizure...
Abstract Background Transmission of SARS-CoV-2 in schools primarily for typically developing children is rare. However, less known about transmission with intellectual and developmental disabilities (IDD), who are often unable to mask or maintain social distancing. The objectives this study were determine positivity in-school rates using weekly screening tests school staff students describe the concurrent deployment mitigation strategies six IDD. Methods From November 23, 2020, May, 28,...
Fragile X syndrome, with an approximate incidence rate of 1 in 4000 males to 8000 females, is the most prevalent genetic cause heritable intellectual disability and common monogenic autism spectrum disorder. The full mutation Messenger Ribonucleoprotein-1 gene, characterized by expansion CGG trinucleotide repeats (>200 repeats), leads fragile syndrome. Currently, there are no targeted treatments available for In a recent large multi-site trial, FXLEARN, effects mGluR5 negative allosteric...
To perform a longitudinal analysis of clinical features associated with neurofibromatosis type 1 (NF1) based on demographic and characteristics to apply machine learning strategy determine feasibility developing exploratory predictive models optic pathway glioma (OPG) attention-deficit/hyperactivity disorder (ADHD) in pediatric NF1 cohort.Using as model system, we retrospective data analyses using manually curated registry electronic health record (EHR) information develop models. Data for...
Abstract Sorting nexin 27 (SNX27) influences the composition of cellular membrane via regulation selective endosomal recycling. Molecular analysis indicates that SNX27 regulates numerous processes through promiscuous interactions with its receptor cargos. deficient ( Snx27 −/− ) mice exhibit reduced embryonic survival, marked postnatal growth restriction and lethality. Haploinsufficient +/− show a less severe phenotype, deficits in learning, memory, synaptic transmission neuronal plasticity....
Purpose – The purpose of this paper is to determine how luxury hotel operators in Dubai interpret the current disability laws region, and further they currently provide accessible accommodation disabled tourists. Design/methodology/approach This study draws on data collected using document analysis UAE Federal Law 29 (English translation), Department Tourism Commerce Marketing Hotel Classification Manual, some five star hotels’ internal guidelines semi-structured interviews with 12...
Neurofibromatosis type 1 is a common neurogenetic disorder characterized by significant clinical variability. As such, numerous studies have focused on identifying clinical, radiographic, or molecular biomarkers that predict the occurrence progression of specific features in individuals with neurofibromatosis 1. One these biomarkers, macrocephaly, has been proposed as prognostic factor for optic pathway glioma development. In current study, authors demonstrate macrocephaly not associated...
Neurofibromatosis type 1 (NF1; OMIM 162200) is an autosomal dominant disorder caused by a wide variety of germline mutations in the NF1 gene. Nearly all individuals with exhibit café-au-lait macules before age 2,1 but can also develop numerous other medical problems, including autism, cognitive deficits, tumors, and congenital heart defects. Although clinical variability inherent has been attributed to stochastic events, it possible that specific mutation might be one factor underlying this...
Dimensionality reduction techniques aim to enhance the performance of machine learning (ML) models by reducing noise and mitigating overfitting. We sought compare effect different dimensionality methods for comorbidity features extracted from electronic health records (EHRs) on ML predicting development various sub-phenotypes in children with Neurofibromatosis type 1 (NF1). EHR-derived data pediatric subjects a confirmed clinical diagnosis NF1 were used create 10 unique comorbidities...
Abstract BACKGROUNDTransmission of SARS-CoV-2 in schools primarily for typically developing children is rare. However, less known about transmission with intellectual and developmental disabilities (IDD), who are often unable to mask or maintain social distancing. The objectives this study were determine positivity in-school rates using weekly screening tests school staff students describe the concurrent deployment mitigation strategies six IDD.METHODSFrom 11/23/20 5/28/21, voluntary a high...