A5005812660- Glycogen Storage Diseases and Myoclonus
- Lysosomal Storage Disorders Research
- Child Nutrition and Feeding Issues
- Dysphagia Assessment and Management
- Tracheal and airway disorders
- Phonetics and Phonology Research
- Cellular transport and secretion
- Voice and Speech Disorders
- Family and Patient Care in Intensive Care Units
- Neonatal Respiratory Health Research
- Neurogenetic and Muscular Disorders Research
- Stuttering Research and Treatment
- Patient-Provider Communication in Healthcare
- Airway Management and Intubation Techniques
- Infant Development and Preterm Care
- Cystic Fibrosis Research Advances
- Carbohydrate Chemistry and Synthesis
- Biochemical and Molecular Research
Northern Illinois University
2023-2024
Washington University in St. Louis
2023-2024
Duke University
2014-2023
Google (United States)
2023
Duke Medical Center
2019-2020
Clinical Research Institute
2020
University of Kentucky
2020
Roger Williams University
2019
University of Rhode Island
2019
Duke University Hospital
2014
ABSTRACT Introduction : Skeletal muscle is common in late‐onset Pompe disease (LOPD). Recent data implicate bulbar involvement (i.e., the tongue). Methods We used quantitative assessment of lingual strength to retrospectively determine frequency and severity weakness LOPD. additionally examined associations between presence or absence dysarthria, dysarthria severity. Results Quantitative revealed be present 80% sample. In 24 affected patients, was mild 29%, moderate severe 42%. Patients with...
Respiratory muscle weakness is a primary therapeutic challenge for patients with infantile Pompe disease. We previously described the clinical implementation of respiratory training (RMT) regimen in two adults late-onset disease; both demonstrated marked increases inspiratory and expiratory strength response to RMT. However, use RMT pediatric survivors disease has not been reported.We report effects an intensive program on maximum pressure (MIP) (MEP) using A-B-A...
Speech disorders occur commonly in individuals with Down syndrome (DS), although data regarding the auditory-perceptual speech features are limited. This descriptive study assessed 47 perceptual during connected samples 26 children DS. The most severely affected were: naturalness, imprecise consonants, hyponasality, rate, inappropriate silences, irregular vowels, prolonged intervals, overall loudness level, pitch aberrant oropharyngeal resonance, hoarse voice, reduced stress, and phonemes....
<h3>Objective</h3> To characterize the extent of CNS involvement in children with Pompe disease using brain MRI and developmental assessments. <h3>Methods</h3> The study included 14 (ages 6–18 years) infantile (IPD) (n = 12) or late-onset (LOPD) 2) receiving enzyme replacement therapy. White matter (WM) hyperintense foci seen MRIs were systematically quantified Fazekas scale (FS) grading system a novel approach: individual FS scores from 10 anatomical areas summed to yield total score (range...
Children with Pompe disease, a rare genetic metabolic myopathy, often have speech impairments. In this study, we provide comprehensive description of articulation, resonance, and voice in children disease.Fifteen disease (11 infantile-onset [IOPD], four late-onset [LOPD]) ranging from 6 to 18 years age participated standard assessments. Measures included maximum tongue pressure; nasalance; cepstral peak prominence (CPP); low/high ratio (L/H ratio); diadochokinetic (DDK) rates; percent...
Respiratory muscle weakness is a primary cause of morbidity and mortality in patients with Pompe disease. We previously described the effects our 12-week respiratory training (RMT) regimen 8 adults late-onset disease [1] 2 children infantile-onset [2].Here we describe repeat enrollment by one pediatric participants who completed second RMT after 7 months detraining. investigated two regimens (RMT #1, #2) using single-participant A-B-A experimental design. Primary outcome measures were...
Bulbar and respiratory weakness occur commonly in children with Pompe disease frequently lead to dysarthria. However, changes vocal quality associated this motor speech disorder are poorly described. The goal of study was characterize the function using auditory-perceptual physiologic/acoustic methods. High-quality voice recordings were collected from 21 disease. Grade, Roughness, Breathiness, Asthenia, Strain (GRBAS) scale used assess ratings compared measurements during sustained phonation...
Abstract Objective Identify stakeholders’ tracheostomy decision-making information priorities in the Neonatal Intensive Care Unit (NICU). Study Design English-speaking caregivers and clinicians who participated NICU discussions between January 2017 December 2021 were eligible. They reviewed a pediatric communication guide prior to meeting. Interviews focused on experiences, preferences, perceptions. recorded, transcribed, analyzed using iterative inductive/deductive coding inform thematic...