A5076163771- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Family and Disability Support Research
- Epigenetics and DNA Methylation
- Genomic variations and chromosomal abnormalities
- Lysosomal Storage Disorders Research
- Child Nutrition and Feeding Issues
- RNA regulation and disease
- Metabolism and Genetic Disorders
- RNA modifications and cancer
- Neurological diseases and metabolism
- Glycosylation and Glycoproteins Research
- Chromatin Remodeling and Cancer
- Genomics and Rare Diseases
- Peroxisome Proliferator-Activated Receptors
- Neonatal and fetal brain pathology
- Fetal and Pediatric Neurological Disorders
- Nerve injury and regeneration
- Neonatal Health and Biochemistry
- Mitochondrial Function and Pathology
- Cytomegalovirus and herpesvirus research
- Child and Adolescent Health
- Genetic Syndromes and Imprinting
- Cellular transport and secretion
- Congenital heart defects research
University of Alabama at Birmingham
2016-2025
Baylor College of Medicine
1992-2023
University of Alabama
1994-2023
Children's Hospital of Philadelphia
2023
Vanderbilt University Medical Center
2019-2023
University of Colorado Anschutz Medical Campus
2023
Vanderbilt University
2023
RTI International
2023
Children's Hospital Colorado
2023
University of Colorado Denver
2023
Abstract Objective Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and often caused by mutations Methyl‐CpG‐binding protein 2 ( MECP2 ). Despite distinct clinical features, the accumulation of molecular information recent years has generated considerable confusion regarding diagnosis RTT. The purpose this work was to revise clarify 2002 consensus criteria for RTT anticipation treatment trials. Method RettSearch members,...
To determine if a relationship exists between the clinical features of Rett syndrome, an X-linked dominant neurodevelopmental disorder, and specific mutations in MECP2.Cross-sectional study 245 girls women with typical syndrome seen 1990 2004 tertiary academic outpatient specialty clinics who had complete MECP2 mutation analysis. A structured evaluation was completed for each participant. The results were grouped by compared.Participants R133C are less severely affected than those R168X or...
<h3>Background</h3> Rett syndrome (RTT), a neurodevelopmental disorder that primarily affects girls, is characterised by period of apparently normal development until 6–18 months age when motor and communication abilities regress. More than 95% individuals with RTT have mutations in methyl-CpG-binding protein 2 (MECP2), whose product modulates gene transcription. Surprisingly, although the caused single gene, disease severity affected can be quite variable. To explore source this phenotypic...
Rett syndrome is a rare, genetic neurodevelopmental disorder. Trofinetide synthetic analog of glycine-proline-glutamate, the N-terminal tripeptide insulin-like growth factor 1 protein, and has demonstrated clinical benefit in phase 2 studies syndrome. In this 3 study ( https://clinicaltrials.gov identifier NCT04181723 ), females with received twice-daily oral trofinetide (n = 93) or placebo 94) for 12 weeks. For coprimary efficacy endpoints, least squares mean (LSM) change from baseline to...
We screened 71 sporadic and 7 familial Rett syndrome (RTT) patients for MECP2 mutations by direct sequencing determined the pattern of X chromosome inactivation (XCI) in 39 RTT patients. identified 23 different disease-causing 54 (76%) 2 (29%) cases. compared electrophysiological findings, cerebrospinal fluid neurochemistry, 13 clinical characteristics between carrying missense those truncating mutations. Thirty-one 34 (91%) with classic had random XCI. Nonrandom XCI was associated milder...
Congenital cytomegalovirus (CMV) infection is a major public health problem because 30 000 to 40 neonates with the are born each year in United States. Although 90% of congenitally infected infants asymptomatic at birth, evidence accumulating that these risk for audiologic, neurologic, and developmental sequelae. The current study describes audiologic outcome 59 congenital CMV compared 26 control infants. Eight had sensorineural hearing loss (SNHL) but none subjects did. Longitudinal...
Rett syndrome (RTT) is characterized by specific motor, cognitive, and behavioral deficits. Because several of these abnormalities occur in other disease states associated with alterations aminergic neurotransmitters, we investigated the contribution such to RTT pathogenesis. We found that both individuals Mecp2 -null mice have lower-than-normal levels metabolites content. Deleting from either TH-positive dopaminergic noradrenergic neurons or PET1-positive serotonergic decreased...
Background: Rett syndrome is an uncommon neurodevelopmental disorder with incidence of 1:9,000 live female births. The principal genetic cause was first reported in 1999 when the association mutations methyl-CpG-binding protein 2 (or MECP2) gene identified. This study uses data from a large international database, InterRett, to examine genotype–phenotype relationships and compares these previous findings population-based cohort.
<b>Background:</b> Rett syndrome (RTT) is a neurodevelopmental disorder primarily seen in females, most with mutation <i>MECP2</i>. Epilepsy has been reported 50%–80%. Previous reports were based on small sample sizes or parent-completed questionnaires, failed to consider the impact of specific <i>MECP2</i> mutations. <b>Methods:</b> The Rare Disease Consortium Research Network for RTT an NIH-funded project characterize clinical spectrum and natural history advance trials. Evaluations...
Arylsulfatase A and B have been demonstrated in preparations of human leukocytes. The level activity arylsulfatase is markedly decreased the from patients with metachromatic leukodystrophy. Acid phosphatase activities were normal. assay leukocyte can be useful diagnosis leukodystrophy while obviating difficulties current methods.
ABSTRACT Objective: We conducted a nationwide survey to determine the prevalence of common gastrointestinal and nutritional disorders in Rett syndrome (RTT) based on parental reporting related occurrence these problems age methyl‐CpG‐binding protein 2 ( MECP2 ) gene status. Methods: designed questionnaire that probed symptoms, diagnoses, diagnostic tests, treatment interventions RTT. The International Syndrome Foundation distributed 1666 family‐based members forwarded their responses for our...
Early development appears normal in Rett syndrome (OMIM #312750) and may be more apparent than real. A major purpose of the Syndrome (RTT) Natural History Study (NHS) was to examine achievement developmental skills or abilities classic atypical RTT assess phenotype-genotype relations RTT.Developmental four realms, gross fine motor, receptive expressive communication from initial enrollment longitudinal assessments for up 7 years, were assessed 542 females meeting criteria 96 with divided...
Abstract Analysis of 819 participants enrolled in the Rett syndrome (RTT) Natural History Study validates recently revised diagnostic criteria. 765 females fulfilled 2002 consensus criteria for classic (653/85.4%) or variant (112/14.6%) RTT. All classified as RTT each main criterion; supportive were not uniformly present. met at least 3 6 2002, 2 4 current format, and 5 11 both. This analysis underscores critical role RTT; requires both Ann Neurol 2010
To determine safety, tolerability, and pharmacokinetics of trofinetide evaluate its efficacy in female children/adolescents with Rett syndrome (RTT), a debilitating neurodevelopmental condition for which no pharmacotherapies directed at core features are available.This was phase 2, multicenter, double-blind, placebo-controlled, parallel-group study, safety/tolerability, pharmacokinetics, clinical response to were characterized 82 RTT, aged 5 15 years. Sixty-two participants randomized...
<h3>Objectives:</h3> Prominent growth failure typifies Rett syndrome (RTT). Our aims were to 1) develop RTT charts for clinical and research settings, 2) compare in children with that of unaffected children, 3) patterns among genotypes phenotypes. <h3>Methods:</h3> A cohort the Rare Diseases Clinical Research Network observational study participants was recruited, cross-sectional longitudinal data comprehensive information collected. reliability confirmed interobserver consistency. Reference...
Abstract Against a background of huge changes in the world university and college students since turn millennium, together with multitude reports on student mental health/wellbeing, this article argues that field health is hampered by imprecise use terms, rush to action universities absence robust evidence‐base, lack overall coordination collaboration collection data. In response, we argue for clearer more consistent definitions of, as well differentiations between, wellbeing health,...