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Valosin-containing protein (VCP) disease is an autosomal dominant multisystem proteinopathy associated with hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia. Myopathy frequently results in respiratory muscle weakness, leading to early mortality due to respiratory failure. We investigated the effects of a remotely administered inspiratory muscle training program in individuals with VCP disease. Nine adults with VCP mutation-positive familial myopathy without evidence of dementia were recruited for a 40-week remotely administered study. Baseline performance was established during the first 8 weeks, followed by 32 weeks of inspiratory muscle training. The primary outcome was maximum inspiratory pressure (MIP). The secondary and exploratory endpoints included spirometry, grip strength, Inclusion Body Myopathy Functional Rating Scale (IBMFRS), Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS), timed up and go, and six-minute walk test (6MWT). During the treatment phase, MIP increased significantly by a weekly mean of 0.392cm. H2O (p=0.023). In contrast, grip strength and ALSFRS significantly decreased by 0.088 lbs. (p=0.031) and 0.043 points (p=0.004) per week, respectively, as expected from the natural progression of this disease. A remotely administered inspiratory muscle training program is therefore feasible, safe, and well-tolerated in individuals with VCP disease and results in improved inspiratory muscle strength.
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Esclerosis Amiotrófica Lateral , Demencia Frontotemporal , Enfermedades Musculares , Entrenamiento de Fuerza , Adulto , Humanos , Proteína que Contiene Valosina/genética , Respiración , Mutación , Proteínas de Ciclo Celular/genéticaRESUMEN
PURPOSE: The study goal was to validate the Observer-Reported Communication Ability (ORCA) measure for use with females with Rett Syndrome (RTT). METHODS: Qualitative interviews, including concept elicitation and cognitive interviewing methods, were conducted with 19 caregivers of individuals with RTT ages 2 and older. A quantitative study was then conducted in 279 caregivers to evaluate construct validity and reliability. RESULTS: After minor modifications were made, the modified ORCA measure was well understood and captured key communication concepts. Quantitative data showed evidence for reliable scores (α = 0.90, test-retest intraclass correlation = 0.88), minimal floor and no ceiling effects, and strong correlation with the Communication and Symbolic Behaviors Scale (r = 0.73). CONCLUSIONS: This study provided initial support that the modified ORCA measure is an acceptable caregiver-reported measure of communication ability for females with RTT. Future work should include evaluation of longitudinal validity of the measure and its associations with clinician- and performance-based measures in diverse samples.
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Síndrome de Rett , Femenino , Humanos , Síndrome de Rett/diagnóstico , Reproducibilidad de los Resultados , Cuidadores/psicología , Índice de Severidad de la EnfermedadRESUMEN
Objective: Our aim was to evaluate relationships between swallowing difficulty (dysphagia) and social determinants of health (SDOH) in older adults ≥65 years. Method: Cross-sectional analyses were performed in community-dwelling Medicare beneficiaries from the National Health & Aging Trends Study (NHATS). The primary exposure was self-reported difficulty chewing/swallowing in the prior month. Dependent measures included a variety of SDOH outcomes (e.g., food insecurity [FI]). Weighted logistic regression models were estimated to determine associations between dysphagia and SDOH outcomes. Results: Of 4041 participants, 428 (10.6%) self-reported dysphagia. In the adjusted model, dysphagia was associated with significantly increased odds for FI (odds ratio [OR] = 1.48, 95% confidence interval [CI] = 1.06, 2.07, p = .023) and being homebound (OR = 1.32, 95% CI = 1.13, 1.55, p= < .001). Discussion: Older adults with dysphagia had increased odds of FI and being homebound. These associations have implications for health-promoting interventions at the individual and policy levels in older adults.
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Trastornos de Deglución , Personas Imposibilitadas , Humanos , Anciano , Estados Unidos/epidemiología , Trastornos de Deglución/epidemiología , Estudios Transversales , Medicare , Inseguridad AlimentariaRESUMEN
BACKGROUND: The risk of dysphagia increases with age, affecting up to 33% of adults over the age of 65. Older adults with dysphagia are at increased risk for negative physical health outcomes such as aspiration pneumonia and death. However, the relationship between dysphagia and psychosocial health is uncertain in this population. OBJECTIVE: We aimed to assess the associations between dysphagia and psychosocial health among older adults (≥ 65) with self-reported dysphagia. DESIGN: We performed a cross-sectional assessment of the National Health and Aging Trends Study (NHATS) conducted in 2019. MAIN MEASURES: Weighted logistic and linear regression models were used to assess the relationship between self-reported dysphagia and psychosocial health using established patient-reported outcome measures including those for depression, anxiety, and social isolation previously used in NHATS analyses, while adjusting for demographics, comorbid conditions, and risk factors for dysphagia identified by purposeful selection. KEY RESULTS: Among the 4041 adults in this cohort, almost half (40%) were between 70 and 74 years old, more than half were female (55%), and a significantly higher proportion were White, non-Hispanic respondents (78.1%, p < 0.01) compared with other races and ethnicities. There were 428 (10.5%) respondents reporting dysphagia symptoms within the previous month. In the multivariable model, dysphagia was associated with significantly increased odds of anxiety (OR 1.33 [1.06, 1.67]) and a significantly decreased sense of well-being (coefficient - 1.10 [- 1.66, - 0.54]), but no association was detected for social isolation. CONCLUSIONS: When accounting for factors associated with underlying physical health status, self-reported dysphagia is independently associated with negative psychosocial health and warrants attention by healthcare providers. Future studies should aim to identify causal factors and the extent to which interventions may mitigate these factors.
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Trastornos de Deglución , Vida Independiente , Humanos , Femenino , Anciano , Masculino , Autoinforme , Trastornos de Deglución/epidemiología , Estudios Transversales , Aislamiento SocialRESUMEN
PURPOSE: Children with Pompe disease, a rare genetic metabolic myopathy, often have speech impairments. In this study, we provide a comprehensive description of articulation, resonance, and voice in children with Pompe disease. METHOD: Fifteen children with Pompe disease (11 with infantile-onset Pompe disease [IOPD], four with late-onset Pompe disease [LOPD]) ranging from 6 to 18 years of age participated in standard speech assessments. Measures included maximum tongue pressure; nasalance; cepstral peak prominence (CPP); low/high ratio (L/H ratio); diadochokinetic (DDK) rates; percent consonants correct (PCC); and visual analog scale (VAS) ratings of articulation, resonance, voice quality, and overall speech severity. Maximum tongue pressures, nasalance, CPP, L/H ratio, DDK rates, and PCC were compared to normative data from typically developing (TD) children. Correlation analyses and multiple regression models of speech measure predictors were conducted. RESULTS: Children with IOPD had greater speech impairment than those with LOPD. The IOPD group had lower maximum tongue pressures, slower articulation rates, lower PCC scores, higher nasalance, and higher L/H voice ratios than TD children. VAS ratings confirmed the presence of impaired articulatory precision, hypernasality, and dysphonia for most of the children with IOPD, with severity of impairment ratings ranging from mild to severe. The LOPD group had mildly elevated nasalance and L/H ratio values relative to TD children, and auditory-perceptual ratings suggested mild to no speech impairment. CONCLUSIONS: Speech disorders involving articulatory precision, resonance balance, and voice quality are common in children with Pompe disease, especially in those with IOPD. With improvements in the detection and treatment of Pompe disease, clinicians should be aware of the associated speech deficits.
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Disfonía , Enfermedad del Almacenamiento de Glucógeno Tipo II , Humanos , Niño , Enfermedad del Almacenamiento de Glucógeno Tipo II/complicaciones , Enfermedad del Almacenamiento de Glucógeno Tipo II/diagnóstico , Presión , Lengua , Trastornos del Habla/diagnóstico , Trastornos del Habla/etiología , Disfonía/diagnóstico , Medición de la Producción del Habla , Acústica del LenguajeRESUMEN
There is a critical need for high-quality clinical outcome assessments to capture the important aspects of communication ability of individuals with Angelman syndrome (AS). To center the perspective of caregivers, our team developed the novel Observer-Reported Communication Ability (ORCA) measure using best practice guidelines, with the goal of developing a measure that could be administered to caregivers directly without the need for a certified administrator for use in clinical trials. To refine the draft measure, we conducted two rounds of cognitive interviews with 24 caregivers and a quantitative study including 249 caregivers. The results from both studies support the overall content validity, construct validity, and the reliability of the ORCA measure for individuals with AS > 2 years old for use in research contexts. Future work should explore the responsiveness of ORCA measures to changes over time in a diverse sample.
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Síndrome de Angelman , Humanos , Preescolar , Reproducibilidad de los Resultados , Cuidadores/psicología , ComunicaciónRESUMEN
Communication deficits have a substantial impact on quality of life for individuals with Angelman syndrome (AS) and their families, but limited qualitative work exists to support the necessary content of measures aiming to assess communication for these individuals. Following best practices for concept elicitation studies, we conducted individual qualitative interviews with caregivers and clinicians to elicit meaningful aspects of communication for individuals with AS. Caregivers were able to discuss their child's specific communication behaviors within a large number of expressive, receptive, and pragmatic functions via numerous symbolic and non-symbolic modalities. These results aligned well with published literature on communication in AS and will be used to inform the design of a novel caregiver-reported measure. Future studies on communication in individuals with AS should focus on gathering quantitative data from large samples of diverse caregivers, which would allow for estimations of the frequency of specific behaviors across the population.
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Síndrome de Angelman , Cuidadores , Niño , Humanos , Calidad de Vida , ComunicaciónRESUMEN
BACKGROUND: Preoperative dysphagia screening is rare. The purpose of this study was to assess the prevalence and potential risk factors of preoperative dysphagia risk in adults preparing for surgery. METHODS: The Eating Assessment Tool (EAT-10), Patient-Generated Subjective Global Assessment Short Form (PG-SGA SF), and Sarcopenia Screening Tool (SARC-F) were self-administered in adults preparing for surgery to identify dysphagia, malnutrition, and sarcopenia risk, respectively. Other variables collected include clinical demographics, fall risk, and surgical history associated with increased dysphagia risk. Descriptive summary statistics, univariate analysis, and logistic regression were performed as appropriate. RESULTS: The median age was 69 years and preoperative dysphagia risk was 9.6%. Among 357 patients completing both EAT-10 and PG-SGA SF or SARC-F, 7.3% had preoperative dysphagia and malnutrition risk and 7.2% had preoperative dysphagia and sarcopenia risk. Preoperative dysphagia risk was 2.7 times greater in those with prior surgical history associated with increased risk of dysphagia, 2.2 times higher in women, and almost twice as high in Black patients and patients with fall risk. Logistic regression revealed significant odds ratios (ORs) for prior surgical history associated with increased risk of dysphagia (OR, 2.95; 95% CI, 1.62-5.40) and male sex (OR, 0.52; 95% CI, 0.29-0.94), and a significant relationship between preoperative dysphagia and malnutrition risk (OR, 4.56; 95% CI, 2.02-10.28) when controlling for clinical variables. CONCLUSION: The high prevalence of dysphagia risk alone and in combination with malnutrition and sarcopenia risk in community-dwelling adults underscores the need for standardized preoperative screening and optimization prior to surgery.
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Trastornos de Deglución , Desnutrición , Sarcopenia , Humanos , Masculino , Femenino , Adulto , Anciano , Trastornos de Deglución/epidemiología , Trastornos de Deglución/etiología , Vida Independiente , Evaluación Nutricional , Sarcopenia/etiología , Sarcopenia/complicaciones , Prevalencia , Desnutrición/diagnóstico , Desnutrición/epidemiología , Desnutrición/etiología , Factores de RiesgoRESUMEN
Pulmonary rehabilitation is typically used for reducing respiratory symptoms and improving fitness and quality of life for patients with chronic lung disease. However, it is rarely prescribed and may be underused in pediatric conditions. Pulmonary rehabilitation can include inspiratory muscle training that improves the strength and endurance of the respiratory muscles. The purpose of this narrative review is to summarize the current literature related to inspiratory muscle rehabilitation training (IMRT) in healthy and diseased pediatric populations. This review highlights the different methods of IMRT and their effects on respiratory musculature in children. Available literature demonstrates that IMRT can improve respiratory muscle strength and endurance, perceived dyspnea and exertion, maximum voluntary ventilation, and exercise performance in the pediatric population. These mechanistic changes help explain improvements in symptomology and clinical outcomes with IMRT and highlight our evolving understanding of the role of IMRT in pediatric patients. There remains considerable heterogeneity in the literature related to the type of training utilized, training protocols, duration of the training, use of control versus placebo, and reported outcome measures. There is a need to test and refine different IMRT protocols, conduct larger randomized controlled trials, and include patient-centered clinical outcomes to help improve the evidence base and support the use of IMRT in patient care.
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Ejercicios Respiratorios , Terapia por Ejercicio , Pediatría , Niño , Disnea , Tolerancia al Ejercicio , Humanos , Fuerza Muscular , Calidad de Vida , Músculos RespiratoriosRESUMEN
PURPOSE: Thoroughly phenotype children with late-onset Pompe disease (LOPD) diagnosed via newborn screening (NBS) to provide guidance for long-term follow up. METHODS: Twenty infants ages 6-21 months with LOPD diagnosed by NBS underwent systematic clinical evaluation at Duke University including cardiac imaging, biomarker testing, physical therapy evaluation, and speech-language pathology evaluation. RESULTS: Of the 20 infants, four were homozygous for the "late-onset" IVS1 splice site variant c.-32-13 T > G, fourteen were compound heterozygous, and two did not have any copies of this variant. None of the patients had evidence of cardiomyopathy or cardiac rhythm disturbances. Biomarker testing showed an increase in CK, AST, and ALT in 8 patients (40%) and increase in Glc4 in two patients (10%). All patients demonstrated postural and kinematic concerns. Three patients (17%) scored below the 10%ile on the Alberta Infant Motor Scale (AIMS) and 15 patients (83%) scored above the 10%ile. Speech-language pathology assessments were normal in all patients and mild feeding/swallowing abnormalities were noted in nine patients (45%). CONCLUSION: Our data show high variability among children with LOPD diagnosed via NBS. Careful physical therapy evaluation is necessary to monitor for subtle musculoskeletal signs that may reflect early muscle involvement. Patients should be monitored closely for symptom progression.
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Enfermedad del Almacenamiento de Glucógeno Tipo II , Enfermedad del Almacenamiento de Glucógeno Tipo II/diagnóstico , Enfermedad del Almacenamiento de Glucógeno Tipo II/genética , Enfermedad del Almacenamiento de Glucógeno Tipo II/patología , Homocigoto , Humanos , Recién Nacido , Mutación , Tamizaje Neonatal/métodos , FenotipoRESUMEN
Bulbar and respiratory weakness occur commonly in children with Pompe disease and frequently lead to dysarthria. However, changes in vocal quality associated with this motor speech disorder are poorly described. The goal of this study was to characterize the vocal function of children with Pompe disease using auditory-perceptual and physiologic/acoustic methods. High-quality voice recordings were collected from 21 children with Pompe disease. The Grade, Roughness, Breathiness, Asthenia, and Strain (GRBAS) scale was used to assess voice quality and ratings were compared to physiologic/acoustic measurements collected during sustained phonation tasks, reading of a standard passage, and repetition of a short phrase at maximal volume. Based on ratings of grade, dysphonia was present in 90% of participants and was most commonly rated as mild or moderate in severity. Duration of sustained phonation tasks was reduced and shimmer was increased in comparison to published reference values for children without dysphonia. Specific measures of loudness were found to have statistically significant relationships with perceptual ratings of grade, breathiness, asthenia, and strain. Our data suggest that dysphonia is common in children with Pompe disease and primarily reflects impairments in respiratory and laryngeal function; however, the primary cause of dysphonia remains unclear. Future studies should seek to quantify the relative contribution of deficits in individual speech subsystems on voice quality and motor speech performance more broadly.
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PURPOSE OF REVIEW: Hypoventilation syndrome in neuromuscular disorders (NMDs) is primarily due to respiratory muscle weakness and results in increased morbidity and mortality. This article highlights current aspects of neuromuscular hypoventilation syndrome, including pathophysiology, clinical symptoms, assessment, respiratory involvement in various NMD, and causal and symptomatic treatments with an emphasis on recent research and advances. RECENT FINDINGS AND SUMMARY: New therapeutic agents have been developed within the last years, proving a positive effect on respiratory system. Symptomatic therapies, including mechanical ventilation and cough assistance approaches, are important in NMD and respiratory muscle training may have benefit in strengthening respiratory muscles and should be offered patients with respiratory muscle weakness the same way as physiotherapy. Correct respiratory assessments and their correct interpretation are hallmarks for early diagnosis of hypoventilation syndrome and treatment.
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Hipoventilación , Enfermedades Neuromusculares , Humanos , Hipoventilación/diagnóstico , Hipoventilación/terapia , Debilidad Muscular , Enfermedades Neuromusculares/complicaciones , Enfermedades Neuromusculares/diagnóstico , Enfermedades Neuromusculares/terapia , Respiración Artificial , Músculos RespiratoriosRESUMEN
Late-onset Pompe disease (LOPD) is an inherited autosomal recessive progressive metabolic myopathy that presents in the first year of life to adulthood. Clinical presentation is heterogeneous, differential diagnosis is challenging, and diagnostic delay is common. One challenge to differential diagnosis is the overlap of clinical features with those encountered in other forms of acquired/hereditary myopathy. Tongue weakness and imaging abnormalities are increasingly recognized in LOPD. In order to explore the diagnostic potential of tongue involvement in LOPD, we assessed tongue structure and function in 70 subjects, including 10 with LOPD naive to treatment, 30 with other acquired/hereditary myopathy, and 30 controls with neuropathy. Tongue strength was assessed with both manual and quantitative muscle testing. Ultrasound (US) was used to assess tongue overall appearance, echointensity, and thickness. Differences in tongue strength, qualitative appearance, echointensity, and thickness between LOPD subjects and neuropathic controls were statistically significant. Greater tongue involvement was observed in LOPD subjects compared to those with other acquired/hereditary myopathies, based on statistically significant decreases in quantitative tongue strength and sonographic muscle thickness. These findings provide additional evidence for tongue involvement in LOPD characterized by weakness and sonographic abnormalities suggestive of fibrofatty replacement and atrophy. Findings of quantitative tongue weakness and/or atrophy may aid differentiation of LOPD from other acquired/hereditary myopathies. Additionally, our experiences in this study reveal US to be an effective, efficient imaging modality to allow quantitative assessment of the lingual musculature at the point of care.
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Atrofia/fisiopatología , Enfermedad del Almacenamiento de Glucógeno Tipo II/diagnóstico , Enfermedad del Almacenamiento de Glucógeno Tipo II/fisiopatología , Enfermedades de Inicio Tardío/diagnóstico , Enfermedades Musculares/congénito , Enfermedades Musculares/diagnóstico , Lengua/fisiopatología , Adulto , Anciano , Diagnóstico Tardío , Diagnóstico Diferencial , Femenino , Humanos , Masculino , Persona de Mediana Edad , Debilidad Muscular/diagnóstico , Debilidad Muscular/etiología , Lengua/diagnóstico por imagen , Ultrasonografía , Adulto JovenRESUMEN
To address progressive respiratory muscle weakness in late-onset Pompe disease (LOPD), we developed a 12-week respiratory muscle training (RMT) program. In this exploratory, double-blind, randomized control trial, 22 adults with LOPD were randomized to RMT or sham-RMT. The primary outcome was maximum inspiratory pressure (MIP). Secondary and exploratory outcomes included maximum expiratory pressure (MEP), peak cough flow, diaphragm ultrasound, polysomnography, patient-reported outcomes, and measures of gross motor function. MIP increased 7.6 cmH2O (15.9) in the treatment group and 2.7 cmH2O (7.6) in the control group (Pâ¯=â¯0.4670). MEP increased 14.0 cmH2O (25.9) in the treatment group and 0.0 cmH2O (12.0) in the control group (Pâ¯=â¯0.1854). The only statistically significant differences in secondary/exploratory outcomes were improvements in time to climb 4 steps (Pâ¯=â¯0.0346) and daytime sleepiness (Pâ¯=â¯0.0160). The magnitude of changes in MIP and MEP in the treatment group were consistent with our pilot findings but did not achieve statistical significance in comparison to controls. Explanations for this include inadequate power and baseline differences in subject characteristics between groups. Additionally, control group subjects appeared to exhibit an active response to sham-RMT and therefore sham-RMT may not be an optimal control condition for RMT in LOPD.
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Ejercicios Respiratorios/métodos , Enfermedad del Almacenamiento de Glucógeno Tipo II/fisiopatología , Músculos Respiratorios/fisiopatología , Adulto , Anciano , Diafragma/fisiopatología , Método Doble Ciego , Femenino , Humanos , Inhalación/fisiología , Masculino , Persona de Mediana Edad , Debilidad Muscular/fisiopatología , Pruebas de Función Respiratoria , UltrasonografíaRESUMEN
BACKGROUND: Respiratory muscle weakness is a primary cause of morbidity and mortality in patients with Pompe disease. We previously described the effects of our 12-week respiratory muscle training (RMT) regimen in 8 adults with late-onset Pompe disease [1] and 2 children with infantile-onset Pompe disease [2]. CASE REPORT: Here we describe repeat enrollment by one of the pediatric participants who completed a second 12-week RMT regimen after 7 months of detraining. We investigated the effects of two 12-week RMT regimens (RMT #1, RMT #2) using a single-participant A-B-A experimental design. Primary outcome measures were maximum inspiratory pressure (MIP) and maximum expiratory pressure (MEP). Effect sizes for changes in MIP and MEP were determined using Cohen's d statistic. Exploratory outcomes targeted motor function. RELEVANCE: From pretest to posttest, RMT #2 was associated with a 25% increase in MIP and a 22% increase in MEP, corresponding with very large effect sizes (d= 2.92 and d= 2.65, respectively). Following two 12-week RMT regimens over 16 months, MIP increased by 69% and MEP increased by 97%, corresponding with very large effect sizes (d= 3.57 and d= 5.10, respectively). MIP and MEP were largely stable over 7 months of detraining between regimens. Magnitude of change was greater for RMT #1 relative to RMT #2.
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Ejercicios Respiratorios/métodos , Enfermedad del Almacenamiento de Glucógeno Tipo II/fisiopatología , Enfermedad del Almacenamiento de Glucógeno Tipo II/rehabilitación , Insuficiencia Respiratoria/fisiopatología , Insuficiencia Respiratoria/rehabilitación , Femenino , Enfermedad del Almacenamiento de Glucógeno Tipo II/complicaciones , Humanos , Lactante , Fuerza Muscular/fisiología , Insuficiencia Respiratoria/complicaciones , Músculos Respiratorios/fisiopatología , Retratamiento , Resultado del TratamientoRESUMEN
INTRODUCTION: Morbidity and mortality in adults with late-onset Pompe disease (LOPD) results primarily from persistent progressive respiratory muscle weakness despite treatment with enzyme replacement therapy (ERT). To address this need, we have developed a 12-week respiratory muscle training (RMT) program that provides calibrated, individualized, and progressive pressure-threshold resistance against inspiration and expiration. Our previous results suggest that our RMT regimen is safe, well-tolerated, and results in large increases in respiratory muscle strength. We now conduct an exploratory double-blind, randomized control trial (RCT) to determine: 1) utility and feasibility of sham-RMT as a control condition, 2) the clinically meaningful outcome measures for inclusion in a future efficacy trial. This manuscript provides comprehensive information regarding the design and methods used in our trial and will aid in the reporting and interpretation of our future findings. METHODS: Twenty-eight adults with LOPD will be randomized (1:1) in blocks of 4 to RMT (treatment) or sham-RMT (control). Assessments will be conducted at pretest, posttest, 3-months detraining, and 6-months detraining. The primary outcome is maximum inspiratory pressure (MIP). Secondary outcomes include maximum expiratory pressure (MEP), 6-min walk test (6MWT), Gait, Stairs, Gowers, and Chair test (GSGC), peak cough flow (PCF), and patient-reported life activity/social participation (Rasch-built Pompe-specific Activity scale [R-Pact]). Exploratory outcomes include quantitative measures from polysomnography; patient reported measures of fatigue, daytime sleepiness, and sleep quality; and ultrasound measures of diaphragm thickness. This research will use a novel tool to provide automated data collection and user feedback, and improve control over dose. ETHICS AND DISSEMINATION: The results of this clinical trial will be promptly analyzed and submitted for publication. Results will also be made available on clinicaltrials.gov. ClinicalTrials.gov: NCT02801539, R21AR069880.
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Ejercicios Respiratorios , Enfermedad del Almacenamiento de Glucógeno Tipo II/terapia , Método Doble Ciego , Humanos , Calidad de Vida , Ensayos Clínicos Controlados Aleatorios como Asunto , Pruebas de Función Respiratoria , Músculos Respiratorios/fisiología , Adulto JovenRESUMEN
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 speech features during connected speech samples in 26 children with DS. The most severely affected speech features were: naturalness, imprecise consonants, hyponasality, speech rate, inappropriate silences, irregular vowels, prolonged intervals, overall loudness level, pitch level, aberrant oropharyngeal resonance, hoarse voice, reduced stress, and prolonged phonemes. These findings suggest that speech disorders in DS are due to distributed impairments involving voice, speech sound production, fluency, resonance, and prosody. These data contribute to the development of a profile of impairments in speakers with DS to guide future research and inform clinical assessment and treatment.
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Síndrome de Down/fisiopatología , Trastornos del Habla/fisiopatología , Adolescente , Adulto , Niño , Síndrome de Down/complicaciones , Femenino , Humanos , Masculino , Fonética , Acústica del Lenguaje , Trastornos del Habla/etiología , Adulto JovenRESUMEN
(1) To examine the association between vocal fold paresis/paralysis (VFP) and poor swallowing outcomes in a thoracic surgery cohort at the population level, and (2) to assess utilization of ENT/speech-language pathology intervention in these cases. The National Inpatient Sample (NIS) represents a 20% stratified sample of discharges from US hospitals. Using ICD-9 codes, discharges undergoing general thoracic surgical procedures between 2008 and 2013 were identified in the NIS. Sub-cohorts of discharges with VFP and those who utilized ENT/SLP services were also identified. Weighted logistic regression models were used to compare binary outcomes such as dysphagia, aspiration pneumonia, and other complications; generalized linear models with generalized estimating equations (GEE) were used to compare total hospital costs and length of stay (LOS). We identified a weighted estimate of 673,940 discharges following general thoracic surgery procedures. The weighted frequency of VFP was 3738 (0.55%). Compared to those without VFP, patients who discharged with VFP had increased odds of dysphagia (6.56, 95% CI 5.07-8.47), aspiration pneumonia (2.54, 95% CI 1.74-3.70), post-operative tracheotomy (3.10, 95% CI 2.16-4.45), and gastrostomy tube requirement (2.46, 95% CI 1.66-3.64). Discharges with VFP also had a longer length of stay and total hospital costs. Of the discharges with VFP, 15.7% received ENT/SLP intervention. VFP after general thoracic procedures is associated with negative swallowing-related health outcomes and higher costs. Despite these negative impacts, most patients with VFP do not receive ENT/SLP intervention, identifying a potential opportunity for improving adverse swallowing-related outcomes.
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Trastornos de Deglución/diagnóstico , Procedimientos Quirúrgicos Torácicos/efectos adversos , Parálisis de los Pliegues Vocales/diagnóstico , Anciano , Anciano de 80 o más Años , Trastornos de Deglución/etiología , Biomarcadores Ambientales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Medición de Riesgo/métodos , Factores de Riesgo , Parálisis de los Pliegues Vocales/etiologíaRESUMEN
OBJECTIVES/HYPOTHESIS: Vocal fold paralysis/paresis (VFP) is an uncommon but serious complication following esophagectomy. The objectives of this study were to: 1) identify the prevalence of VFP and associated complications after esophagectomy in the United States, and 2) determine the utilization and otolaryngology-head and neck surgery/speech-language pathology (OHNS/SLP) and predictors of such utilization in the management of these patients. STUDY DESIGN: Retrospective database analysis. METHODS: The National Inpatient Sample (NIS) represents a 20% stratified sample of discharges from US hospitals. Using International Classification of Diseases, Ninth Revision, Clinical Modification codes, patients undergoing esophagectomy between 2008 and 2013 were identified in the NIS. Subcohorts of patients with VFP and OHNS/SLP utilization were also identified. Weighted logistic regression models were used to compare binary outcomes such as complications; generalized linear models were used to compare total hospital charges and length of stay (LOS). RESULTS: We studied 10,896 discharges, representing a weighted estimate of 52,610 patients undergoing esophagectomy. The incidence of VFP after esophagectomy was 1.96%. Compared to those without VFP, patients with VFP had a higher incidence of postoperative pneumonia, more medical complications, and were more likely to undergo tracheostomy; hospital charges and LOS were also higher. Of the patients with VFP, 35.0% received OHNS/SLP intervention. CONCLUSIONS: VFP after esophagectomy is associated with postoperative complications, prolonged LOS, and higher hospital costs. OHNS/SLP intervention occurred in roughly one-third of postesophagectomy VFP patients, suggesting there may be opportunities for enhanced evaluation and management of these patients. LEVEL OF EVIDENCE: 4 Laryngoscope, 128:2815-2822, 2018.