A5032293263- Lysosomal Storage Disorders Research
- Carbohydrate Chemistry and Synthesis
- Prenatal Screening and Diagnostics
- Family and Disability Support Research
- Glycogen Storage Diseases and Myoclonus
- Down syndrome and intellectual disability research
- Child Nutrition and Feeding Issues
- Ethics and Legal Issues in Pediatric Healthcare
- Autoimmune and Inflammatory Disorders Research
- Biochemical and Molecular Research
- Pediatric health and respiratory diseases
- Neurogenetic and Muscular Disorders Research
- Medical Coding and Health Information
- Chronic Disease Management Strategies
- Adenosine and Purinergic Signaling
- Diabetes and associated disorders
- Adolescent and Pediatric Healthcare
- Immunodeficiency and Autoimmune Disorders
- Gastrointestinal disorders and treatments
- Metabolism and Genetic Disorders
- Tracheal and airway disorders
- Radiopharmaceutical Chemistry and Applications
- Microscopic Colitis
- Family Support in Illness
- Gastrointestinal Tumor Research and Treatment
Duke Medical Center
2011-2018
Duke University Health System
2015
University of South Carolina
2011
Carolinas Medical Center
2011
National Down Syndrome Society
2011
Weatherford College
2011
Abstract Down syndrome is one of the most common conditions encountered in genetics clinic. Due to improvements healthcare, educational opportunities, and community inclusion over past 30 years, life expectancy quality for individuals with have significantly improved. As prenatal screening diagnostic techniques become more enhanced widely available, genetic counselors can expect frequently provide information support following a new diagnosis syndrome. This guideline was written other...
Objective Although enzyme replacement therapy (ERT) is a highly effective therapy, CRIM-negative (CN) infantile Pompe disease (IPD) patients typically mount strong immune response which abrogates the efficacy of ERT, resulting in clinical decline and death. This study was designed to demonstrate that tolerance induction (ITI) prevents or diminishes development antibody titers, better outcome compared CN IPD treated with ERT monotherapy. Methods We evaluated safety, feasibility algorithm...
Cross-reactive immunological material-negative (CRIM-negative) infantile Pompe disease (IPD) patients develop an immune response against enzyme replacement therapy (ERT) with alglucosidase alfa that nullifies ERT efficacy. Prophylactic tolerance induction (ITI) rituximab, methotrexate, and IVIG successfully prevents development of deleterious rhGAA IgG antibodies; however, safety, likelihood success, long-term efficacy ITI in a larger cohort remain unknown.Clinical data were analyzed for 19...
The purpose of this study was to explore the perspectives genetic counselors and parents children with Down syndrome define essential information for initial discussion a new diagnosis. We compared given in both prenatal postnatal settings, also aimed distinguish differences between informational needs provide. Online surveys were distributed members National Syndrome Congress, Society, Society Genetic Counselors. Participants included 993 389 counselors. rated 100 features about as...
The goals of this undertaking were to assess the outcomes thyroid screening tests and adherence guidelines across five Down syndrome (DS) specialty clinics in various states. Data related collected for 663 individuals specializing comprehensive care with DS a period 1 year. Of participants, 47.7% participants had TSH free T4 ordered at their clinic visit. Approximately 19.0% (60/316) new disorder diagnosis made. We conclude that sizable proportion patients are not up‐to‐date on current when...
The Down Syndrome Study Group (DSSG) was founded in 2012 as a voluntary, collaborative effort with the goal of supporting evidenced-based health care guidelines for individuals syndrome (DS). Since then, 5 DS specialty clinics have collected prospective, longitudinal data on medical conditions that co-occur DS. Data were entered by clinical staff or trained designees into National Patient Database, which we created using REDCap software. In our pilot year, enrolled 663 participants across...
The main purposes of this undertaking were to determine how often patients with Down syndrome (DS) are screened for celiac disease (CD) across five DS specialty clinics, which symptoms CD most reported providers at these and, many individuals diagnosed by clinics. This was accomplished following 663 1 year, clinics in different states specializing the comprehensive care people DS. Of participants, 114 their visit a clinic. Protracted constipation (43.2%) and refractory behavioral problems...
Previous research has identified twenty-six factors that may affect pregnancy management decisions following prenatal diagnosis of DS; however, there is no consensus about the relative importance or effects these factors. In order to better understand patient decision-making, we conducted expansive cognitive interviews with nine former patients who received a DS. Our results suggest attached unique meanings influencing decision-making regardless outcome. Nineteen previously studied and four...
Cross-reactive immunological material (CRIM) status is an important prognostic factor in patients with infantile Pompe disease (IPD) being treated enzyme replacement therapy. Western blot analysis of cultured skin fibroblast lysates has been the gold standard for determining CRIM status. Here, we evaluated using peripheral blood mononuclear cell (PBMC) protein. For 6 33 (18%) determination PBMC was either indeterminate or discordant
Utilizing the tenet, "Relationship is integral to genetic counseling process" from Reciprocal Engagement Model (REM) of practice, this study sought explore relationship between counselor and patient following a "life-limiting" prenatal diagnosis that resulted in major loss (termination, stillbirth/miscarriage, or neonatal death). The specific aims were to: 1) Understand describe aspects counselor-patient context life-limiting diagnosis, identify characteristics actions 2) 3) influence...
The first information given to parents of children with newly diagnosed Down syndrome has a major impact on adaptation the diagnosis and subsequent decision making. It is generally recommended that provided by genetic counselors be balanced, positive negative information. However, few studies have defined what “balanced” means, may different perspective regard needed. Prior evaluating types about not considered believe important. This report used an online survey examine perspectives...
Enzyme replacement therapy (ERT) with alglucosidase alfa has improved clinical outcomes and prolonged survival for patients infantile Pompe disease (IPD).However, characterised as Cross-Reactive Immunological Material (CRIM)negative (CN) mount an immune response against ERT resulting in decline and, ultimately, death.A prophylactic tolerance induction (ITI) protocol been successful preventing the development of antibody titres these patients.A subset (CP) also poor outcomes, at-risk are...