Oropharyngeal Dysphagia in Mucopolysaccharidoses: Evidence from Videofluoroscopic Swallowing Study

Abstract Mucopolysaccharidoses (MPS) are rare inborn errors of metabolism, leading to the accumulation of glycosaminoglycans (GAG) in distinct tissues. We investigated oropharyngeal dysphagia using the videofluoroscopic swallowing study (VFSS) in patients with different MPS types. Since there is a lack of studies systematically evaluating this disorder in this population, the use of a standard technique should contribute to better evaluate individuals with MPS. A cross-sectional and observational study enrolling patients followed by an outpatient service for lysosomal diseases at the Genetics Service of the Hospital de Clínicas de Porto Alegre (SGM/HCPA) was conducted. Patients underwent semi-structured interviews, clinical evaluation and VFSS. Nineteen patients were evaluated, including patients with MPS types I (16%), II (42%), IIIb (10%) and IVa (32%). Nearly all patients (95%) presented with oropharyngeal dysphagia in the VFSS. The most frequent findings were impaired chewing during oral phase (94%) and reduced laryngeal elevation in the pharyngeal phase (72%). Oropharyngeal dysphagia constituted a prevalent symptom in the studied cohort regardless of MPS type. Our data reinforces the notion that this disorder should be objectively assessed since it can significantly compromise the nutrition and the hydration of these patients as well as lead to tracheobronchial aspiration, thus resulting in aspiration pneumonia and even death eventually.

Current Methods of Bruxism Diagnosis: A Short Communication.

PURPOSE: To assess the current diagnostic methods for sleep bruxism (SB). MATERIALS AND METHODS: This review of the literature evaluates all available instrumental and noninstrumental methods of bruxism/SB diagnosis. RESULTS: SB diagnosis can be performed using self-reports and clinical examination, but these methods have little agreement with polysomnography. Two portable electromyography/electrocardiography appliances have been validated against polysomnography (BiteStrip and Bruxoff), but they are indicated only for primary SB. Polysomnography is considered the gold standard and is indicated for secondary SB; however, it is expensive and time-consuming. CONCLUSION: No perfect method of SB diagnosis exists, and future research should concentrate on improving SB self-reports.

Validation of the Brazilian version of the Pediatric Obstructive Sleep Apnea Screening Tool questionnaire / Validação da versão brasileira do questionário Pediatric Obstructive Sleep Apnea Screening Tool

Abstract Objective: To validate the Pediatric Obstructive Sleep Apnea Screening tool for use in Brazil. Materials and methods: The Brazilian version of this questionnaire, originally validated and tested in the United States, was developed as follows: (a) translation; (b) back-translation; (c) completion of the final version; (d) pre-testing. The questionnaire was applied prior to polysomnography to children aged 3-9 years from October 2015 to October 2016, and its psychometric properties (i.e., validity and reliability) were evaluated. The accuracy was assessed from comparisons between polysomnographic results and corresponding questionnaire scores. Results: Sixty patients were enrolled, and based on polysomnographic findings, 48% patients had normal apnea-hypopnea index, while the remaining 52% met the criteria for obstructive sleep apnea. Minimum O2 saturation level was significantly lower among obstructive sleep apnea children (p = 0.021). Satisfactory concordance was found between individual apnea-hypopnea index and questionnaire scores. Bland-Altman plot-derived bias was 0.1 for the difference between measures, with 5.34 (95% CI: 4.14-6.55) and −5.19 (95%CI: −6.39 to −3.98) for the upper and lower agreement range. Internal consistency derived from Cronbach's alpha was 0.84 (95%CI: 0.78-0.90). Conclusion: The questionnaire was translated to and validated into Brazilian-Portuguese version, and showed good reliability and concordance with apnea-hypopnea index. This questionnaire offers a reliable screening option for sleep-disordered breathing in children.

Resumo Objetivo: Validar o questionário Pediatric Obstructive Sleep Apnea Screening Tool para o seu uso no Brasil. Materiais e métodos: A versão brasileira desse questionário, originalmente validado e testado nos Estados Unidos, foi desenvolvida a partir das seguintes etapas: a) tradução; b) retrotradução; c) conclusão da versão final; d) pré-teste. O questionário foi aplicado previamente ao início da polissonografia em crianças de 3 a 9 anos incluídas no estudo de outubro de 2015 a outubro de 2016. As propriedades psicométricas avaliadas foram validade e confiabilidade. A acurácia foi avaliada pela comparação entre os resultados da polissonografia com o escore do questionário. Resultados: Foram incluídos no estudo 60 pacientes. Conforme a polissonografia, 48% dos pacientes apresentaram índices de apneia e hipopneia normais e 51% apresentaram resultados alterados. A SpO2 mínima foi significativamente menor (p = 0,021) nas crianças com diagnóstico de síndrome de apneia obstrutiva do sono. O índice de apneia e hipopneia apresentou concordância satisfatória com os resultados do questionário. O viés médio de Bland-Altman foi de 0,1 para a diferença entre as medidas, com um limite superior de 5,34 (IC95%4,14 a 6,55) e um limite inferior de -5,19 (IC95%-6,39 a -3,98). A consistência interna do questionário avaliada pelo α de Cronbach foi de 0,84 (IC95%0,78 a 0,90). Conclusão: O questionário foi traduzido e validado adequadamente para a versão em português brasileiro, apresentando boa confiabilidade e concordância com o índice de apneia e hipopneia. Esse questionário oferece uma opção confiável de triagem de distúrbios respiratórios do sono em crianças.

Validation of the Brazilian version of the Pediatric Obstructive Sleep Apnea Screening Tool questionnaire.

OBJECTIVE: To validate the Pediatric Obstructive Sleep Apnea Screening tool for use in Brazil. MATERIALS AND METHODS: The Brazilian version of this questionnaire, originally validated and tested in the United States, was developed as follows: (a) translation; (b) back-translation; (c) completion of the final version; (d) pre-testing. The questionnaire was applied prior to polysomnography to children aged 3-9 years from October 2015 to October 2016, and its psychometric properties (i.e., validity and reliability) were evaluated. The accuracy was assessed from comparisons between polysomnographic results and corresponding questionnaire scores. RESULTS: Sixty patients were enrolled, and based on polysomnographic findings, 48% patients had normal apnea-hypopnea index, while the remaining 52% met the criteria for obstructive sleep apnea. Minimum O2 saturation level was significantly lower among obstructive sleep apnea children (p=0.021). Satisfactory concordance was found between individual apnea-hypopnea index and questionnaire scores. Bland-Altman plot-derived bias was 0.1 for the difference between measures, with 5.34 (95% CI: 4.14-6.55) and -5.19 (95%CI: -6.39 to -3.98) for the upper and lower agreement range. Internal consistency derived from Cronbach's alpha was 0.84 (95%CI: 0.78-0.90). CONCLUSION: The questionnaire was translated to and validated into Brazilian-Portuguese version, and showed good reliability and concordance with apnea-hypopnea index. This questionnaire offers a reliable screening option for sleep-disordered breathing in children.

Acoustic signal of silent tracheal aspiration in children with oropharyngeal dysphagia.

Objetive: The aim of this study was to characterize the acoustic signal of silent tracheal aspiration in children with oropharyngeal dysphagia (OPD). METHOD: Thirty-two children with OPD were examined with combined digital cervical auscultation (DCA) and videofluoroscopic swallow study (VFSS). Power spectral density (PSD, in 1/√Hz) of the acoustic signal from a sequential series of five liquid swallows was used for comparisons between children who silently aspirated and children who did not aspirate on VFSS. Fourteen children were excluded due to either DCA/VFSS artifact or non-silent aspiration (cough, choking). RESULTS: The remaining 18 participants (median age 6 years, range 2-12.8) were classified based on VFSS as aspirators (n = 8) and non-aspirators (n = 10). The PSD curve of aspirators presented an ascending pattern (1st vs. 5th deglutition: 695.2 vs. 4421.9 1/√Hz), while the curve of non-aspirators was flat (1st vs. 5th deglutition: 509 vs. 463.4 1/√Hz), with marked differences being observed from the 3rd measure onwards (p < .001). In this study, DCA was able to identify silent tracheal aspiration in children with OPD. CONCLUSION: This non-invasive technique identified aspiration by an increase in the PSD curve in aspiration sounds.

Relationship Between Clinical Variables and Health-Related Quality of Life in Young Adult Subjects With Cystic Fibrosis.

BACKGROUND: Health-related quality of life (HRQOL) has received much attention in patients with cystic fibrosis (CF). The goal of this study was to evaluate the association between clinical, lung function, sleep quality, and polysomnographic variables with 2 HRQOL questionnaires, the shorter-version World Health Organization Quality of Life (WHOQOL-BREF) and Cystic Fibrosis Quality of Life (CFQOL) questionnaires, in adult subjects with CF. METHODS: In a cross-sectional study, 51 subjects underwent clinical evaluation and overnight polysomnography and answered WHOQOL-BREF, CFQOL, Pittsburgh Sleep Quality Index, and Epworth Sleepiness Scale questionnaires. In addition, pulmonary function tests, 6-min walk tests, and echocardiography were performed. RESULTS: For WHOQOL-BREF scores, the sleep quality index was associated with the physical domain; the percent-of-predicted 6-min walk distance (6MWD) and sleepiness scale were associated with the psychological domain; the percent-of-predicted FEV1 and sleep quality index were associated with the social relationship domain; and the sleep quality index was associated with the environment domain. For CFQOL scores, age at diagnosis, clinical score, and sleep quality index were associated with the physical functioning domain; the percent-of-predicted 6MWD and pulmonary arterial systolic pressure were associated with the role domain; sex and sleep quality index were associated with the vitality domain; the apnea-hypopnea index was associated with the emotional functioning domain; sex and body mass index (BMI) were associated with the body image domain; the percent-of-predicted 6MWD and sleep quality index were associated with the health perception domain; age, sex, BMI, and arousal index were associated with the weight domain; age, sex, percent-of-predicted FEV1, percent-of-predicted 6MWD, and pulmonary arterial systolic pressure were associated with the respiratory symptom domain; and the clinical score was associated with the digestive symptom domain. CONCLUSIONS: The sleep quality index score, 6MWD, sleepiness scale score, and FEV1 were predictors of WHOQOL-BREF scores. Age at diagnosis, clinical score, sleep quality score, 6MWD, sex, apnea-hypopnea index, BMI, current age, arousal index, FEV1, and pulmonary arterial systolic pressure were predictors of CFQOL scores.

Respiratory and sleep disorders in mucopolysaccharidosis.

MPS encompasses a group of rare lysosomal storage disorders that are associated with the accumulation of glycosaminoglycans (GAG) in organs and tissues. This accumulation can lead to the progressive development of a variety of clinical manifestations. Ear, nose, throat (ENT) and respiratory problems are very common in patients with MPS and are often among the first symptoms to appear. Typical features of MPS include upper and lower airway obstruction and restrictive pulmonary disease, which can lead to chronic rhinosinusitis or chronic ear infections, recurrent upper and lower respiratory tract infections, obstructive sleep apnoea, impaired exercise tolerance, and respiratory failure. This review provides a detailed overview of the ENT and respiratory manifestations that can occur in patients with MPS and discusses the issues related to their evaluation and management.

Validation of the Bitestrip versus polysomnography in the diagnosis of patients with a clinical history of sleep bruxism.

OBJECTIVE: This validation study compared an electromyography (EMG) device, Bitestrip, versus polysomnography in the diagnosis of sleep bruxism (SB). STUDY DESIGN: Forty-nine consecutive patients (32 women and 17 men, 41.2 ± 12.9 years old) with a clinical history of SB were included in the study from the Orofacial Pain Clinic, Faculty of Dentistry, Pontifical Catholic University of Rio Grande do Sul in Brazil. RESULTS: Initially, we compared an SB positive/negative test result for both systems (agreement 87.8%, sensitivity 84.2%, positive predictive value 100%, and crude kappa 0.71). We then compared a 4-scale test (no, light, moderate, or severe bruxism) between the 2 methods (agreement 80.27%, weighted kappa 0.51, and Kendall W coefficient 0.575). CONCLUSIONS: The Bitestrip can be considered as a moderate screening method for the diagnosis of SB, because it is more precise in detecting the presence or absence of SB but less precise in detecting its intensity.

Sleep findings and predictors of sleep desaturation in adult cystic fibrosis patients.

PURPOSE: Questions remain about the polysomnographic findings and the predictors for sleep desaturation in cystic fibrosis (CF) patients. Our study aimed to evaluate sleep parameters in a sample of adult CF patients comparing them with healthy controls and to determine the best predictors of sleep desaturation in CF patients with awake resting peripheral oxygen saturation (SpO(2)) ≥90%. METHODS: In a cross-sectional study, with data collected prospectively, 51 clinically stable adult CF patients (mean age 25.1 ± 6.7 years) and 25 age-matched controls underwent an overnight polysomnography and answered sleep questionnaires. CF patients had their pulmonary function, 6-min walk test, and echocardiography assessed. RESULTS: CF patients and control subjects had similar sleep architecture. However, CF patients had impaired subjective sleep quality and a higher arousal index than controls. The apnea-hypopnea index was similar in both groups, and only two CF patients (3.9%) fulfilled the criteria for obstructive sleep apnea syndrome. Sleep desaturation was more common in CF patients (29.4% vs 0%; p < 0.001). In a logistic regression model, we observed that awake resting SpO(2) was the single best variable associated with sleep desaturation in CF population (p < 0.001). The awake SpO(2) <94% had a sensitivity, specificity, positive and negative predictive value for sleep desaturation of, respectively, 93.3%, 100%, 100%, and 97.3%. CONCLUSIONS: CF patients had a worse subjective sleep quality and small changes in sleep architecture. In nonhypoxic, adult CF patients, sleep desaturation is common, is not associated with obstructive sleep events, and can be accurately predicted by awake resting SpO(2) <94%.

Analysis of the influence of a mandibular advancement device on sleep and sleep bruxism scores by means of the BiteStrip and the Sleep Assessment Questionnaire.

PURPOSE: A before-and-after experimental clinical study was carried out with the objective of evaluating the effect of a mandibular advancement device (MAD; 75% advancement), made of a thermoplastic material, on sleep bruxism (SB) and sleep scores. MATERIALS AND METHODS: After a habituation period of 1 week, SB scores were taken at baseline and after use of the MAD for 30 days. Scores were compared using the newly developed BiteStrip, which registers the number of contractions of the unilateral masseter muscle after a 5-hour period, giving a severity score from 0 to 3 after the registrations. To assess sleep, the Sleep Assessment Questionnaire (SAQ), a screening tool with scores ranging from 0 to 68, was used before and after use of the MAD. Twenty-eight subjects (13 women, 15 men; mean age: 42.9 +/- 12.0 years) with a clinical history of SB and no spontaneous temporomandibular disorder (TMD) pain were selected. The clinical diagnosis of either moderate or severe SB was further confirmed through use of the BiteStrip (scores 2 or 3) at baseline. A 30-day follow-up period was used for evaluation. Both methods were validated against polysomnography. In addition, common signs and symptoms of TMD based on the Research Diagnostic Criteria for Temporomandibular Disorders were also evaluated before and after use to assess the side effects of the MAD. RESULTS: There was a statistically significant improvement in both SB and sleep scores based on the BiteStrip and the SAQ (Wilcoxon signed rank and Student paired t test, P < .05). In the signs and symptoms of TMD, there was a significant reduction in temporomandibular joint sounds as well as in masseter and temporalis tenderness to palpation. None of the SB subjects experienced any breakage of the MAD. CONCLUSION: The MAD had a positive effect on SB and sleep scores, measured by the BiteStrip and the SAQ, respectively, and did not increase any traditional signs and symptoms of TMD in a 30-day evaluation period.

Nocturnal reflux in children and adolescents with persistent asthma and gastroesophageal reflux.

BACKGROUND: A higher frequency of nocturnal gastroesophageal reflux (GER) in adult patients with respiratory symptoms has been demonstrated. The aim of this study was to determine the prevalence of nocturnal GER by using prolonged intraesophageal pH monitoring and compare it with spirometry results in children with persistent asthma. METHODS: Thirty-eight patients with persistent asthma for at least 2 years were studied. Gastrointestinal symptoms suggestive of GER were considered as regurgitation, heartburn, and abdominal pain. All patients underwent prolonged intraesophageal pH study and spirometry. GER was considered positive when a reflux index (RI) was higher than 5%. Forced vital capacity (FVC), forced expiratory volume in 1 second (FEV(1)), forced mid-expiratory flow rate (FEF(25-75%)), and FEV(1)/FVC ratio were measured. RESULTS: Median age was 10 years of age (range 5 to 15) and 58% were male; GER prevalence was 47.3%. Median (range) of reflux index during supine and upright periods from GER patients were, respectively, 8.7% (3.2 to 23.6) and 10.5% (5.2 to 15.0) (p = 0.913), and only FEF(25-75%) was below the predicted value: 54.5% (39.4 to 96.9). Reflux index was not significantly correlated with FVC, FEV(1) and FEF(25-75%). CONCLUSIONS: A high prevalence of GER was found in children and adolescents with persistent asthma, equally distributed in the supine (nocturnal) and upright positions. There was no correlation with pulmonary function test.