A5088158052- Autism Spectrum Disorder Research
- Genetics and Neurodevelopmental Disorders
- Congenital heart defects research
- Genomic variations and chromosomal abnormalities
- Mechanical Circulatory Support Devices
- Child Nutrition and Feeding Issues
- Genomics and Rare Diseases
- Congenital Heart Disease Studies
- Obsessive-Compulsive Spectrum Disorders
- Attention Deficit Hyperactivity Disorder
- Cancer Genomics and Diagnostics
- Aortic Disease and Treatment Approaches
- Chromatin Remodeling and Cancer
- Genetic factors in colorectal cancer
- ATP Synthase and ATPases Research
- Family and Disability Support Research
- Cardiac Arrest and Resuscitation
- Williams Syndrome Research
- Educational Methods and Media Use
- Sepsis Diagnosis and Treatment
- Long-Term Effects of COVID-19
- Viral Infections and Vectors
- Neurogenetic and Muscular Disorders Research
- COVID-19 and Mental Health
- Multiple Sclerosis Research Studies
Center for Autism and Related Disorders
2019-2021
The University of Texas Southwestern Medical Center
2014-2020
Southwestern Medical Center
2018
Center for Human Genetics
2017
Advanced Imaging Research (United States)
2017
Children's Medical Center
2014
ObjectivesTo determine safety and efficacy of the 5HT1A serotonin partial agonist buspirone on core autism associated features in children with spectrum disorder (ASD).Study designChildren 2-6 years age ASD (N = 166) were randomized to receive placebo or 2.5 5.0 mg twice daily. The primary objective was evaluate effects 24 weeks Autism Diagnostic Observation Schedule (ADOS) Composite Total Score. Secondary objectives included evaluating social competence, repetitive behaviors, language,...
With the rapid pace and scale of emerging coronavirus 2019 (COVID-19) pandemic, a growing body evidence has shown strong association COVID-19 with pre- post- neurological complications. This necessitated need to incorporate targeted care for this subgroup patients which warrants further reorganization services, healthcare workforce ongoing management chronic cases. The social distancing shutdown imposed by several nations in midst have severely impacted care, access support conditions such...
Autism spectrum disorder (ASD) can be reliably diagnosed at 18 months, yet significant diagnostic delays persist in the United States. This double-blinded, multi-site, prospective, active comparator cohort study tested accuracy of an artificial intelligence-based Software as a Medical Device designed to aid primary care healthcare providers (HCPs) diagnosing ASD. The combines behavioral features from three distinct inputs (a caregiver questionnaire, analysis two short home videos, and HCP...
Variants in CLCN4, which encodes the chloride/hydrogen ion exchanger CIC-4 prominently expressed brain, were recently described to cause X-linked intellectual disability and epilepsy. We present detailed phenotypic information on 52 individuals from 16 families with CLCN4-related disorder: 5 affected females 2 males a de novo variant CLCN4 (6 previously unreported) 27 males, 3 15 asymptomatic female carriers 9 inherited variants (4 unreported). Intellectual ranged borderline profound....
Exon-targeted microarrays can detect small (<1000 bp) intragenic copy number variants (CNVs), including those that affect only a single exon. This genome-wide high-sensitivity approach increases the molecular diagnosis for conditions with known disease-associated genes, enables better genotype–phenotype correlations, and facilitates variant allele detection allowing novel disease gene discovery. We retrospectively analyzed data from 63,127 patients referred clinical chromosomal microarray...
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...
Abstract Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting reduced or complete loss-of-function (LOF) of encoded chloride/proton exchanger ClC-4, were recently demonstrated to cause a neurocognitive phenotype both males females. Through international clinical matchmaking interrogation public variant databases we assembled database 90 rare missense families: 41 unique 18 recurrent 49 families. For 43 families, including 22 33 females, collated detailed...
We performed a retrospective matched case–control study evaluating whether the traditional coagulation profile predicts cerebrovascular events in children on extracorporeal membrane oxygenation (ECMO) 71 bed intensive care unit at tertiary children’s hospital. Between 2009 and 2014, 241 neonates were initiated ECMO. The cumulative 5 year incidence of intracranial hemorrhage infarct was 9.2% 7.9%, respectively. Thirty-six cases individually 1:1 with control subjects based age, primary...
In this pilot study, we evaluated the long-term neurodevelopmental outcomes in neonatal and pediatric patients supported by extracorporeal membrane oxygenation (ECMO) aimed to identify role of post-ECMO magnetic resonance imaging (MRI) predicting outcomes. Twenty-nine were using Ages Stages Questionnaire, Third Edition (ASQ-3) screening tool. Thirteen during their visit at clinic 16 interviewed via phone. We also reviewed MRI brain these scored severity injury based on neuroimaging findings....
Point mutations or genomic deletions of FOXF1 result in a lethal developmental lung disease Alveolar Capillary Dysplasia with Misalignment Pulmonary Veins. However, the clinical consequences constitutively increased dosage are unknown. Copy-number variations and their parental origin were identified using combination array CGH, long-range PCR, DNA sequencing, microsatellite analyses. Minisatellite sequences across different species compared gready clustering algorithm genome-wide analysis...
There is a paucity of objective, quantifiable indicators mitochondrial disease available for clinical and scientific investigation.To this end, we explore intramyocellular lipid (IMCL) accumulation noninvasively by 7T magnetic resonance spectroscopy (MRS) as reporter metabolic dysfunction in MELAS (mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes). We reasoned that may impair muscle fat metabolism, resulting deposition (as sometimes observed biopsies), MRS well suited...
Limb girdle muscular dystrophy (LGMD) is a diverse group of myopathic disorders characterized by proximal muscle weakness and hyperCKemia. Mutations encoding sarcoglycans numerous other proteins have been shown to be responsible for most cases. We report series girls with negative family history boys Duchenne dystrophy, demonstrating an LGMD phenotype associated dystrophinopathy.A retrospective chart review all presenting the our clinic between January 2001 September 2007 was conducted....
The lack of diagnostic tools for Autism Spectrum Disorder in primary care settings and long wait lists specialist assessment contribute to an average delay 3 years between first parental concern diagnosis. This study examined the performance artificial intelligence-based device intended aid PCPs diagnosis ASD.
Cerebral blood flow, hemodynamics and metabolism in patients receiving ECMO therapy were assessed by combined TCD frequency-domain NIRS, with a goal to understand the risks of neurologic injuries associated ECMO-related factors.