Validity, reliability, and responsiveness of the Brazilian version of the instrument World Health Organization Disability Assessment Schedule (WHODAS 2.0) for individuals with obstructive sleep apnoea.

BACKGROUND: Obstructive sleep apnoea (OSA) is a disabling health condition, and there is no disease-specific patient-reported outcome instrument to assess individuals with OSA. OBJECTIVES: To evaluate the psychometric properties of the Brazilian version of the World Health Organization Disability Assessment Schedule (WHODAS 2.0) in individuals with OSA. METHODS: One hundred individuals with OSA responded to the WHODAS 2.0 version of 36 items, the Epworth Sleepiness Scale (ESS), the Pittsburgh Sleep Quality Index (PSQI), and the 12-item health survey (SF-12). Internal consistency, convergent and discriminative validity, and responsiveness to continuous positive airway pressure (CPAP) were the psychometric properties tested. RESULTS: Cronbach's α values indicate good internal consistency (0.91 - 0.73), except for the self-care domain (α = 0.52). Convergent validity indicated an excellent correlation (r = -0.80) between the domains of functioning and quality of life. Discriminative validity showed no association between OSA severity and functioning (p = 0.90). The responsiveness to CPAP treatment showed a large effect size (r = 0.82; p < 0.05) CONCLUSIONS: The WHODAS 2.0 instrument is valid, reliable, and responsive for assessing individuals with OSA.

In-Laboratory Polysomnography Worsens Obstructive Sleep Apnea by Changing Body Position Compared to Home Testing.

(1) Background: Home sleep apnea testing, known as polysomnography type 3 (PSG3), underestimates respiratory events in comparison with in-laboratory polysomnography type 1 (PSG1). Without head electrodes for scoring sleep and arousal, in a home environment, patients feel unfettered and move their bodies more naturally. Adopting a natural position may decrease obstructive sleep apnea (OSA) severity in PSG3, independently of missing hypopneas associated with arousals. (2) Methods: Patients with suspected OSA performed PSG1 and PSG3 in a randomized sequence. We performed an additional analysis, called reduced polysomnography, in which we blindly reassessed all PSG1 tests to remove electroencephalographic electrodes, electrooculogram, and surface electromyography data to estimate the impact of not scoring sleep and arousal-based hypopneas on the test results. A difference of 15 or more in the apnea-hypopnea index (AHI) between tests was deemed clinically relevant. We compared the group of patients with and without clinically relevant differences between lab and home tests (3) Results: As expected, by not scoring sleep, there was a decrease in OSA severity in the lab test, similar to the home test results. The group of patients with clinically relevant differences between lab and home tests presented more severe OSA in the lab compared to the other group (mean AHI, 42.5 vs. 20.2 events/h, p = 0.002), and this difference disappeared in the home test. There was no difference between groups in the shift of OSA severity by abolishing sleep scoring in the lab. However, by comparing lab and home tests, there were greater variations in supine AHI and time spent in the supine position in the group with a clinically relevant difference, either with or without scoring sleep, showing an impact of the site of the test on body position during sleep. These variations presented as a marked increase or decrease in supine outcomes according to the site of the test, with no particular trend. (4) Conclusions: In-lab polysomnography may artificially increase OSA severity in a subset of patients by inducing marked changes in body position compared to home tests. The location of the sleep test seems to interfere with the evaluation of patients with more severe OSA.

Validation of a sleep staging classification model for healthy adults based on two combinations of a single-channel EEG headband and wrist actigraphy.

STUDY OBJECTIVES: The aim of this study was to develop a sleep staging classification model capable of accurately performing on different wearable devices. METHODS: Twenty-three healthy participants underwent a full-night type I polysomnography and used two device combinations: (A) flexible single-channel electroencephalogram (EEG) headband + actigraphy (n = 12) and (B) rigid single-channel EEG headband + actigraphy (n = 11). The signals were segmented into 30-second epochs according to polysomnographic stages (scored by a board-certified sleep technologist; model ground truth) and 18 frequency and time features were extracted. The model consisted of an ensemble of bagged decision trees. Bagging refers to bootstrap aggregation to reduce overfitting and improve generalization. To evaluate the model, a training dataset under 5-fold cross-validation and an 80-20% dataset split was used. The headbands were also evaluated without the actigraphy feature. Participants also completed a usability evaluation (comfort, pain while sleeping, and sleep disturbance). RESULTS: Combination A had an F1-score of 98.4% and the flexible headband alone of 97.7% (error rate for N1: combination A = 9.8%; flexible headband alone = 15.7%). Combination B had an F1-score of 96.9% and the rigid headband alone of 95.3% (error rate for N1: combination B = 17.0%; rigid headband alone = 27.7%); in both, N1 was more confounded with N2. CONCLUSIONS: We developed an accurate sleep classification model based on a single-channel EEG device, and actigraphy was not an important feature of the model. Both headbands were found to be useful, with the rigid one being more disruptive to sleep. Future research can improve our results by applying the developed model in a population with sleep disorders. CLINICAL TRIAL REGISTRATION: Registry: ClinicalTrials.gov; Name: Actigraphy, Wearable EEG Band and Smartphone for Sleep Staging; URL: https://clinicaltrials.gov/study/NCT04943562; Identifier: NCT04943562. CITATION: Melo MC, Vallim JRS, Garbuio S, et al. Validation of a sleep staging classification model for healthy adults based on 2 combinations of a single-channel EEG headband and wrist actigraphy. J Clin Sleep Med. 2024;20(6):983-990.

Cheeks appearance as a novel predictor of obstructive sleep apnea: the CASA score study.

STUDY OBJECTIVES: Four well-established predictors of obstructive sleep apnea (OSA) risk are body mass index, age, sex, and neck circumference. We have previously reported cheeks appearance as an OSA predictor, which may represent a combination of such predictors in a single, readily available feature. This study sought to answer the question: Is cheeks appearance an OSA risk predictor? METHODS: This was a prospective cross-sectional diagnostic accuracy study based on STARD (standards for reporting diagnostic accuracy studies). Patients undergoing polysomnography to investigate sleep complaints at a sleep clinic affiliated with a university hospital were assessed using cheeks appearance scored 0-3 for volume and 0-3 for flaccidity to create the Cheeks Appearance for Sleep Apnea (CASA) score ranging from 0 to 6. Appearance was judged by 3 blinded and independent evaluators. RESULTS: Among 265 patients evaluated, 248 were included. Fifty-seven patients had a CASA score of 0 and 191 had a CASA score between 1 and 6. Polysomnography diagnosed 177 of the individuals with OSA; of these, 167 had an altered CASA score. Sensitivity was 87%, specificity was 82%, positive-predictive value was 94%, negative-predictive value was 66%, and accuracy was 86%. CONCLUSIONS: Our results suggest that combining volume and flaccidity of cheeks appearance in a single index may constitute a reliable OSA predictor. CASA score is a novel predictor of OSA with internal validity in a sleep laboratory adult population. Our findings support further studies to confirm the external validity of this practical diagnostic tool. CLINICAL TRIAL REGISTRATION: Registry: ClinicalTrials.gov; Name: Cheeks Appearance as a Novel Predictor of Obstructive Sleep Apnea: The CASA Score Study (CASA); URL: https://clinicaltrials.gov/study/NCT04980586; Identifier: NCT04980586. CITATION: Prikladnicki A, Gomes E, Sousa LCCR, Gonçalves SC, Martinez D. Cheeks appearance as a novel predictor of obstructive sleep apnea: the CASA score study. J Clin Sleep Med. 2024;20(6):879-885.

Advancements in Home-Based Devices for Detecting Obstructive Sleep Apnea: A Comprehensive Study.

Obstructive Sleep Apnea (OSA) is a respiratory disorder characterized by frequent breathing pauses during sleep. The apnea-hypopnea index is a measure used to assess the severity of sleep apnea and the hourly rate of respiratory events. Despite numerous commercial devices available for apnea diagnosis and early detection, accessibility remains challenging for the general population, leading to lengthy wait times in sleep clinics. Consequently, research on monitoring and predicting OSA has surged. This comprehensive paper reviews devices, emphasizing distinctions among representative apnea devices and technologies for home detection of OSA. The collected articles are analyzed to present a clear discussion. Each article is evaluated according to diagnostic elements, the implemented automation level, and the derived level of evidence and quality rating. The findings indicate that the critical variables for monitoring sleep behavior include oxygen saturation (oximetry), body position, respiratory effort, and respiratory flow. Also, the prevalent trend is the development of level IV devices, measuring one or two signals and supported by prediction software. Noteworthy methods showcasing optimal results involve neural networks, deep learning, and regression modeling, achieving an accuracy of approximately 99%.

Trastornos respiratorios del sueño en pediatría: avances en tiempos pandémicos / Sleep-disordered breathing in pediatrics: advances in pandemic times

Los avances en medicina del sueño son de gran relevancia para enfrentar adecuadamente los trastornos del sueño en niños y adolescentes, procurando mitigar sus efectos multisistémicos y llevando a la práctica conductas de un mejor estándar. Este artículo de revisión se enfoca en mostrar los principales avances sobre trastornos respiratorios del sueño, refiriéndonos a las experiencias publicadas durante estos años de pandemia sobre avances epidemiológicos, consecuencias cardiovasculares, lectura de estudios de sueño y estudios domiciliarios; finalmente aspectos sobre tratamiento quirúrgico versus conservador, soporte ventilatorio y dispositivos autorregularles ambulatorios para titulación.

Advances in sleep medicine are of great relevance to adequately address sleep disorders in children and adolescents, seeking to reduce their multisystem effects and implementing better standard behaviors. This review article focuses on showing the main advances on sleep-disordered breathing, referring to the experiences published during these pandemic years on epidemiological advances, cardiovascular consequences, reading sleep studies and home studies; finally, aspects of surgical versus conservative treatment, ventilatory support and ambulatory self-regulating devices for titration.

Lateral pharyngoplasty: polysomnographic results and phenotype-based analysis of OSA.

PURPOSE: There are several surgical treatments for obstructive sleep apnea (OSA) including lateral pharyngoplasty (LP) have yielded promising results, clearly improving symptoms of the disease. However, there are few publications in relation to polysomnographic (PSG) results, and patient selection remains a challenge. There are currently four pathophysiological phenotypes for OSA: anatomical, low arousal threshold, ventilatory instability, and poor muscle response. This study sought to evaluate the PSG results of LP and to verify whether the phenotypic profile is predictive of surgical success. METHODS: This was an observational, retrospective, cross-sectional study that analyzed the PSG results (pre-surgical and at least 6 months after surgery) of patients treated with Cahali's LP. To assess phenotypes, the following variables of interest (obtained from the pre-operative PSG) were used: apnea-hypopnea index (AHI) during REM sleep (AHIrem), percentage of hypopneas in the AHI, number of central or mixed apneas, and AHIrem and non-REM AHI ratio. RESULTS: Of 46 patients, it was possible to evaluate the phenotype in 28 patients. There were significant differences in the AHI values, ranging from 37.5 (20.8-49.7) to 10.3 (2.3-33.0) (p < 0.001). The minimum oxyhemoglobin saturation ranged from 78 ± 11 to 83 ± 8 p = 0.008. The time with oxyhemoglobin saturation < 90% ranged from 3.6 min (0.5-9.1) to 0.0 (0.0-1.5) p = 0.031. An AHIrem of < 20 events/h showed a positive correlation with surgical success. CONCLUSION: LP is efficient for the treatment of OSA, yielding significant improvement in all respiratory parameters evaluated by PSG. A pre-operative AHIrem of < 20 events/h was associated with surgical success. Other variables of interest for determining the phenotypes were not predictors of surgical success.

Clinical and polysomnographic predictors of suboptimal auto-adjusting CPAP titration in adult OSA patients: a single-center study.

PURPOSE: To examine potential clinical, demographic, anthropometric, and polysomnographic predictors of successful auto-adjusting continuous positive airway pressure (CPAP) titration for treatment of obstructive sleep apnea (OSA). METHODS: This cross-sectional study was conducted in adults diagnosed with moderate-to-severe OSA (baseline apnea-hypopnea index [AHI] ≥ 15.0/h), who underwent auto-adjusting CPAP titration (S9 or S10 AutoSet ResMed®) in a sleep laboratory setting while wearing a nasal or pillow mask. Participants were then grouped into two groups: optimal CPAP titration (residual AHI < 5.0/h) or suboptimal CPAP titration (residual AHI ≥ 5.0/h). Multivariate logistic regression analysis was used to assess possible independent predictive factors for suboptimal CPAP titration. RESULTS: A total of 1222 adults consisting of 874 subjects with optimal CPAP titration (71.5%) and 348 subjects with suboptimal CPAP titration (28.5%) were evaluated. Multivariate analysis resulted in a model with an adequate calibration (Hosmer-Lemeshow chi-square-test: 7.088; p = 0.527), with male sex, higher values of baseline AHI, therapeutic pressure (95th percentile), and mask leak (95th percentile) emerging as significant and independent predictors for suboptimal CPAP titration: adjusted odds ratio (OR): 1.456 (95% confidence interval [CI] 1.076-1.971; p = 0.015), OR: 1.009 (95% CI 1.002-1.016; p = 0.013), OR: 1.281 (95% CI 1.206-1.361; p < 0.001), and 1.035 (1.026-1.043; p < 0.001), respectively. CONCLUSIONS: In a large cohort of adults undergoing auto-adjusting CPAP titration due to moderate-to-severe OSA, male sex, increased values of baseline AHI, pressure requirements, and mask leak were significant predictors for less than optimal CPAP titration.

The clinical application progress and potential of drug-induced sleep endoscopy in obstructive sleep apnea.

Background and Objective: Obstructive sleep apnoea (OSA) is characterized by nocturnal repetitive upper airway (UA) collapse. For sleep physicians, the recognition of UA collapse characteristics is critical for understanding OSA mechanisms and developing individualized treatment plans. Drug-induced sleep endoscopy (DISE) is an exam during simulated sleep that allows the dynamic assessment of the UA of individuals with OSA. The initial recognition of DISE was to locate the sites of UA obstruction and direct the surgical selection of OSA since it was introduced in the 1990s. After approximately 30 years of studies, based on advances in endoscopic operative techniques and innovative treatments of OSA, DISE had been performed to explore mechanisms and comprehensive treatments related to UA collapse. Methods: This article reviewed contemporary DISE advances, including indications and contraindications, technique of induced sleep, endoscopic operation, UA characteristics classification.Results and Conclusions: Precise selection based on the association between collapse patterns and treatment modalities, such as continuous positive airway pressure, oral appliance, positional therapy, robotic surgery and neurostimulator implanting, is the future research prospect based on DISE.Key messagesDISE provides sleep physicians with valuable information about the upper airway collapse characteristics and dynamic changes during sleep.The studies based on DISE findings improve the selectivity and efficiency of treatment modalities, including classical therapies such as continuous positive airway pressure, oral appliance, positional therapy, and innovative therapies such as neurostimulator implanting and robotic surgery, promote the advancement of OSA precision medicine.

Validation of an overnight wireless high-resolution oximeter for the diagnosis of obstructive sleep apnea at home.

Obstructive sleep apnea (OSA) is extremely common and has several consequences. However, most cases remain undiagnosed. One limitation is the lack of simple and validated methods for OSA diagnosis at home. The aim of this study was to validate a wireless high-resolution oximeter with a built-in accelerometer linked to a smartphone with automated cloud analysis (Biologix) that was compared with a home sleep test (HST, Apnea Link Air) performed on the same night. We recruited 670 patients out of a task force of 1013 patients with suspected OSA who were referred to our center for diagnosis. The final sample consisted of 478 patients (mean age: 56.7 ± 13.1 years, mean body mass index: 31.9 ± 6.3 kg/m2). To estimate the night-to-night OSA severity variability, 62 patients underwent HST for two consecutive nights. The HST-apnea-hypopnea index (AHI) and the Biologix-oxygen desaturation index (ODI) was 25.0 ± 25.0 events/h and 24.9 ± 26.5 events/h, respectively. The area under the curve-sensibility/specificity to detect at least mild (HST-AHI > 5), moderate-to-severe (HST-AHI > 15), and severe OSA (HST-AHI > 30) were (0.983)-94.7/92.8, (0.986)-94.8/93.9, and (0.990)-95.8/94.3, respectively. The limits of agreement originating from the Bland-Altman plot and the correlation between HST-AHI and Biologix-ODI were lower than the night-to-night HST-AHI variability (25.5 and 34.5 events/h, respectively, p = 0.001). We conclude that Biologix is a simple and reliable technique for OSA diagnosis at home.

Oral language skills in Brazilian children with obstructive sleep apnea.

BACKGROUND: Obstructive sleep apnea (OSA) is associated with a negative impact on neurocognitive development in children. Receptive/expressive oral language is a complex process, with limited investigations on the repercussion of OSA. This study aimed to analyze receptive and expressive oral language skills in children with obstructive sleep apnea (OSA). METHODOLOGY: This study included 52 children (27 females, 51.92 %) with a mean age of 7 ± 2 years (age range of 4-11 years), which underwent type 3 polysomnography (PSG). The participants were divided into N-OSA (n = 16) and OSA (n = 36) groups based on the apnea-hypopnea index. The speech-language therapist evaluated hearing and oral language for phonology, expressive semantics, syntax, receptive semantics (Peabody Image Vocabulary Test), pragmatics, and understanding of verbal instructions (Token Test). RESULTS: Oral language assessments showed a difference in the pragmatics subsystem (p = 0.047), with positive correlation between OSA severity and oral language functions such as pragmatics and syntax (desaturation index, p = 0.045). CONCLUSION: Obstructive sleep apnea (OSA) had a negative impact on oral language skills, including the syntax and pragmatics subsystems.

Obstructive Sleep Apnea: characterization of the obstructive site and type of collapse. / Apneia Obstrutiva do Sono: caracterização do sítio obstrutivo e tipo de colapso.

Obstructive Sleep Apnea is characterized by recurrent episodes of partial or complete collapse of the pharynx, followed by decreased oxyhemoglobin saturation and frequent arousals. It is regarded as a public health issue with important night and day symptoms that impact life quality. Its effects are associated with the areas of competence of Speech and Language Pathologists. To establish efficient diagnosis and treatment methods, professionals must know the pathogenesis of upper airway obstruction during sleep. This study seeks to enlarge the understanding of obstructive sleep apnea pathophysiology, eligibility of individualized therapeutic procedures and guidance for orofacial myofunctional therapy by describing and illustrating the locations and types of upper airway collapse during sleep. We analyzed original records of Drug Induced Sleep Endoscopy exams of a series of cases with polysomnographic diagnosis of obstructive sleep apnea following the proper ethical processes. The images of the exam recordings were analyzed by five professionals with expertise in the sleep area. Obstructive sites and types of collapse were presented according to the current classification. The videos were divided into screenshots, originating figures from each anatomical site: without collapse and collapsed. The results are visualized in the images of the cases showing a predominance of velopharyngeal collapse: anteroposterior, lateral, or concentric; oropharyngeal lateral collapse; tongue anteroposterior collapse and anteroposterior collapse of the epiglottis. Understanding the obstruction sites and types of collapse illustrated in this study may help to predict therapeutic responses and learn the limitations or direct individual proposals patient.

A Apneia Obstrutiva do Sono caracteriza-se por episódios recorrentes de colapso parcial ou completo da faringe, seguidos de diminuição da saturação de oxihemoglobina e despertares frequentes. É considerada problema de saúde pública com importantes sintomas noturnos e diurnos, impactando qualidade de vida. Seus efeitos associam-se as áreas de competência da Fonoaudiologia. Para estabelecer diagnóstico e métodos de tratamento eficientes, profissionais devem conhecer a patogênese da obstrução da via aérea superior durante o sono. Visando contribuir para a compreensão da fisiopatologia da apneia obstrutiva do sono, elegibilidade de procedimentos terapêuticos individualizados e direcionamento para terapêutica miofuncional orofacial, o presente estudo tem como objetivo descrever e ilustrar os locais e tipos de colapso da via aérea superior durante o sono. Após processos éticos, foram analisados registros originais das sonoendoscopias de uma série de casos com diagnóstico polissonográfico de apneia obstrutiva do sono. As imagens das gravações dos exames foram analisadas por cinco profissionais com expertise na área do sono. Os locais obstrutivos e tipos de colapso foram apresentados conforme classificação vigente. Os vídeos foram divididos em capturas de tela, originando figuras de cada sítio anatômico: sem colapso e com colapso. Os resultados foram apresentados por imagens dos casos, que ilustram cada colapso, predominando colapso velofaríngeo: anteroposterior, lateral ou concêntrico; seguido por colapso orofaríngeo lateral; colapso anteroposterior na hipofaringe e colapso anteroposterior da epiglote. O entendimento dos locais de obstrução e tipos de colapso ilustrados nesse estudo pode ser um preditor de respostas terapêuticas, auxiliando a compreensão das limitações ou direcionando propostas para cada paciente.

Are reduced internal nasal dimensions a risk factor for obstructive sleep apnea syndrome?

INTRODUCTION: Obstructive sleep apnea syndrome is a high-prevalence disorder found in the population. Studies have shown a possible association between nasal obstruction and obstructive sleep apnea syndrome, but the existence of a association between the degree of nasal obstruction and obstructive sleep apnea syndrome severity has not yet been proven. OBJECTIVE: To evaluate the internal nasal dimensions of adults with primary snoring and obstructive sleep apnea syndrome by acoustic rhinometry and to correlate the findings with obstructive sleep apnea severity. METHODS: Twenty-one male Caucasian subjects with complaints of snoring and/or respiratory pauses during sleep, aged between 18 and 60 years of age, were evaluated. After clinical evaluation, otorhinolaryngological examination and flexible nasopharyngolaryngoscopy, all patients underwent type III polysomnography. The participants were divided into two groups according to symptom severity: group 1, primary snoring and/or mild obstructive sleep apnea syndrome(n = 9) and group 2, moderate/severe obstructive sleep apnea syndrome (n = 12). Internal nasal dimensions were measured by acoustic rhinometry, analyzing minimum cross sectional area (CSA) and three nasal segment volumes. RESULTS: The respiratory event index corresponded to 8.1 ±â€¯4.0 in group 1 and 47.5 ±â€¯19.1 in group 2. In group 1, the cross-sectional areas values, in cm2, corresponded to: CSA 1 = 1.1 ±â€¯0.4; CSA 2 = 2.1 ±â€¯0.9; CSA 3 = 3.5 ±â€¯1.8 and, in group 2: CSA 1 = 1.2 ±â€¯0.3, CSA 2 = 2.0 ±â€¯0.5; CSA 3 = 2.8 ±â€¯0.7. In group 1, volumes (V), in cm3, corresponded to: V1 = 3.5 ±â€¯1.0; V2 = 9.3 ±â€¯5.0; V3 = 40.2 ±â€¯21.5 and in group 2 a: V1 = 3.6 ±â€¯0.5; V2 = 7.6 ±â€¯1.5; V3 = 31.5 ±â€¯6.7. Cross-sectional area and volume ​​did not differ between groups. CONCLUSION: There were no significant differences in the cross-sectional areas and nasal volumes between individuals with primary snoring-mild obstructive sleep apnea syndrome and moderate-severe obstructive sleep apnea syndrome. Differently to the raised hypothesis, our results suggest that there is no association between internal nasal dimensions and severity of obstructive sleep apnea syndrome.

Sleep, psychiatric and socioeconomic factors associated with substance use in a large population sample: A cross-sectional study.

Multiple elements modulate drug use, including sleep, which is increasingly being considered as an important contributor to substance use and abuse. The present study aimed to evaluate the association between sleep, psychiatric and socioeconomic/demographic factors and substance use in a large-scale representative sample from the city of São Paulo, Brazil. Data from the 2007 São Paulo Epidemiological Sleep Study (EPISONO) database were used. In the EPISONO study, volunteers underwent a polysomnographic exam and completed a series of questionnaires to assess objective and subjective sleep quality and associated comorbidities. Drug use was assessed using the Alcohol, Smoking and Substance Involvement Screening Test (ASSIST). Linear (univariate and multivariate) and logistic regressions were performed to identify factors associated with the use of the 4 most commonly used substances in the sample (tobacco, alcohol, cannabis and cocaine/crack). Structural equation models were used to establish theoretical networks to explain the relationship between sleep, psychiatric and socioeconomic factors and use of these substances. The logistic regression results showed that psychiatric symptoms, lower income, and poorer subjective sleep were the main factors associated with tobacco consumption; gender and occupational status with alcohol intake; age and occupation with cannabis use; and education with cocaine/crack use. The structural equation models partially supported these findings and identified significant effects of psychiatric symptoms on tobacco consumption, both directly and mediated by sleep. Our results reinforce previous findings concerning factors associated with generally misused substances and suggest that sleep should be considered as an important element in future substance use disorder studies.

Descripción clínica y hallazgos polisomnográficos en tres pacientes con Síndrome de Treacher Collins / Clinical description and polysomnographic findings in three patients with Treacher Collins

El Síndrome de Treacher Collins (STC) es una enfermedad congénita del desarrollo craneofacial, siendo una complicación frecuente la obstrucción de la vía aérea. Objetivo: Describir clínicamente tres casos de STC y sus hallazgos polisomnográficos. Diseño: Estudio observacional, descriptivo y retrospectivo. Revisión de fichas clínicas y polisomnografías (PSG). Resultados: Se incluyeron tres pacientes con STC, de 1, 17 y 20 años, dos hombres. Todos presentaron malformaciones faciales compatibles con el STC. El paciente menor tuvo apneas desde el nacimiento. En las PSG, todos presentaron eficiencia del sueño disminuida e índice de microdespertares aumentado. Solo un paciente tuvo diagnóstico de Síndrome de Apnea/Hipoapnea Obstructiva del Sueño (SAHOS) severo. Conclusiones: Aún cuando las anomalías craneofaciales no difirieron entre los pacientes, hubo sólo un caso de SAHOS severo. Las otras alteraciones descritas en la PSG afectan la calidad de vida, siendo relevante la búsqueda activa de trastornos respiratorios del sueño en estos pacientes.

Treacher Collins Syndrome (STC) is a congenital craniofacial disorder, being the airway obstruction a frequent complication. Objective: To describe clinical and polysomnographic findings of three cases with STC. Methods: An observational, descriptive and retrospective study. Review of clinical records and nocturnal polysomnography was carried out. Results: Three patients with STC were included of 1, 17 and 20 years old, two were males. All of them with facial malformations compatible with STC. Only the youngest presented apneas since birth. All patients had decreased sleep efficiency and increased arousal index. Only one patient presented with severe Obstructive Sleep Apnea Syndrome (OSAS). Conclusions: Despite the fact that all the patients had similar craniofacial anomalies, only one presented with severe OSAS. The other abnormalities described in the polysomnography affect the quality of life, being relevant performing an active screening of breathing-related sleep disorders in these patients.

Is REM sleep a paradoxical state?: Different neurons are activated in the cingulate cortices and the claustrum during wakefulness and paradoxical sleep hypersomnia.

Michel Jouvet proposed in 1959 that REM sleep is a paradoxical state since it was characterized by the association of a cortical activation similar to wakefulness (W) with muscle atonia. Recently, we showed using cFos as a marker of activity that cortical activation during paradoxical sleep (PS) was limited to a few limbic cortical structures in contrast to W during which all cortices were strongly activated. However, we were not able to demonstrate whether the same neurons are activated during PS and W and to rule out that the activation observed was not linked with stress induced by the flowerpot method of PS deprivation. In the present study, we answered to these two questions by combining tdTomato and cFos immunostaining in the innovative TRAP2 transgenic mice exposed one week apart to two periods of W (W-W mice), PS rebound (PSR-PSR) or a period of W followed by a period of PSR (W-PSR mice). Using such method, we showed that different neurons are activated during W and PSR in the anterior cingulate (ACA) and rostral and caudal retrosplenial (rRSP and cRSP) cortices as well as the claustrum (CLA) previously shown to contain a large number of activated neurons after PSR. Further, the distribution of the neurons during PSR in the rRSP and cRSP was limited to the superficial layers while it was widespread across all layers during W. Our results clearly show at the cellular level that PS and W are two completely different states in term of neocortical activation.

Cardiac autonomic control during non-REM and REM sleep stages in paediatric patients with Prader-Willi syndrome.

Cardiac death is the second most prevalent cause in Prader-Willi syndrome (PWS). Paediatric patients with PWS often present cardiac autonomic dysfunction during wakefulness, obesity and sleep-disordered breathing. However, the extent of cardiac autonomic modulation during sleep in PWS has not been documented. The objective of this study was to assess alterations in cardiac autonomic modulation of paediatric patients with PWS during different sleep stages. Thirty-nine participants in three groups: 14 PWS, 13 sex and age-matched lean controls (LG) and 12 obese-matched controls (OB). All participants underwent overnight polysomnography, including continuous electrocardiogram recordings. Heart rate variability (HRV) was analysed during representative periods of each sleep stage through time and frequency domains calculated across 5-min periods. Between-within ANOVAs were employed (p < .05). The results show that total HRV was lower in PWS than OB and LG during slow-wave sleep (SWS) (standard deviation of all NN intervals [SDNN] ms, p = .006). Parasympathetic modulation assessed by time-domain analysis was lower during SWS in PWS compared to both OB and LG (square root of the mean of the sum of the squares of differences between adjacent NN intervals [RMSSD] ms, p = .004; SDSD, standard deviation of differences between adjacent NN intervals [SDSD] ms, p = .02; number of adjacent NN intervals differing by >50 ms [NN50] ms, p = .03; proportion of adjacent NN intervals differing by >50 ms [pNN50] ms, p = .01). Sympathovagal balance assessed by frequency-domain analysis was lower during both N2 and SWS than during the rapid eye movement (REM) sleep stage, but not different among groups. In conclusion, this group of paediatric patients with PWS had impaired cardiac autonomic balance due to reduced parasympathetic modulation during SWS. This result could imply an underlying increased cardiovascular risk in PWS even during early age and independent of obesity.

Validation of the Brazilian Portuguese version of the Rapid Eye Movement Sleep Behavior Disorder Screening Questionnaire (RBDSQ-BR).

INTRODUCTION: A diagnosis of rapid eye movement sleep behavior disorder (RBD) currently requires confirmation with polysomnography (PSG). However, PSG may not be sufficiently available. In these situations, a clinical diagnostic measure might be useful. OBJECTIVE: To validate the Brazilian Portuguese version of RBD screening questionnaire (RBDSQ) for patients with Parkinson's disease (PD). METHODS: Using detailed clinical interviews and PSG analysis (diagnostic gold standard), a convenience sample of 69 subjects was divided into the following subgroups: patients with PD and RBD (PD+RBD; n=50) and patients with PD alone (PD-RBD; n=19). RESULTS: RBDSQ-BR showed adequate internal consistency (Cronbach's α=0.809) and, except for item 8, adequate item-test correlation. The retest performed in a second sample (n=13, consecutive) showed high agreement for total score (intraclass correlation coefficient, ICC=0.863) and acceptable agreement for items 2, 3, 6.2, 6.3, 7, and 8 (K>0.60). The receiver operating characteristic (ROC) curve analysis had an area under the curve (AUC) of 0.728. A cut-off score of 4 enabled the correct diagnosis of 76.8% subjects and provided the best balance between sensitivity (84%) and specificity (57.9%), with a 2.0 likelihood ratio of a positive result (LR+) and a 0.3 likelihood ratio of a negative result (LR-). Items 2 and 6.2 had 84.2% specificity and 3.2 LR+. Combined items 1+2+6.2, 2+6.1, and 6.1+6.2 increased the specificity to 94.7%, with LR+ ranging from 6.1 to 7.6. CONCLUSIONS: RBDSQ-BR is a reliable instrument, which may be useful for RBD diagnosis of Brazilian patients with PD. The instrument is also valid and may help in a better selection of cases for a more detailed clinical evaluation or even PSG analysis.

Validation of the Brazilian Portuguese version of the Rapid Eye Movement Sleep Behavior Disorder Screening Questionnaire (RBDSQ-BR) / Validação da Versão Brasileira do Questionário de Triagem do Transtorno Comportamental do Sono REM (QT-TCSREM-BR)

ABSTRACT Introduction: A diagnosis of rapid eye movement sleep behavior disorder (RBD) currently requires confirmation with polysomnography (PSG). However, PSG may not be sufficiently available. In these situations, a clinical diagnostic measure might be useful. Objective: To validate the Brazilian Portuguese version of RBD screening questionnaire (RBDSQ) for patients with Parkinson's disease (PD). Methods: Using detailed clinical interviews and PSG analysis (diagnostic gold standard), a convenience sample of 69 subjects was divided into the following subgroups: patients with PD and RBD (PD+RBD; n=50) and patients with PD alone (PD-RBD; n=19). Results: RBDSQ-BR showed adequate internal consistency (Cronbach's α=0.809) and, except for item 8, adequate item-test correlation. The retest performed in a second sample (n=13, consecutive) showed high agreement for total score (intraclass correlation coefficient, ICC=0.863) and acceptable agreement for items 2, 3, 6.2, 6.3, 7, and 8 (K>0.60). The receiver operating characteristic (ROC) curve analysis had an area under the curve (AUC) of 0.728. A cut-off score of 4 enabled the correct diagnosis of 76.8% subjects and provided the best balance between sensitivity (84%) and specificity (57.9%), with a 2.0 likelihood ratio of a positive result (LR+) and a 0.3 likelihood ratio of a negative result (LR-). Items 2 and 6.2 had 84.2% specificity and 3.2 LR+. Combined items 1+2+6.2, 2+6.1, and 6.1+6.2 increased the specificity to 94.7%, with LR+ ranging from 6.1 to 7.6. Conclusions: RBDSQ-BR is a reliable instrument, which may be useful for RBD diagnosis of Brazilian patients with PD. The instrument is also valid and may help in a better selection of cases for a more detailed clinical evaluation or even PSG analysis.

RESUMO Introdução: O diagnóstico do transtorno comportamental do sono REM (TCSREM) implica na realização da polissonografia (PSG), mas sua disponibilidade pode não ser suficiente. Portanto, meios clínicos para o diagnóstico podem ser úteis. Objetivo: Validar para a língua portuguesa falada no Brasil o questionário de triagem do TCSREM (QT-TCSREM) em pacientes portadores de doença de Parkinson (DP). Métodos: Uma amostra por conveniência composta de 69 indivíduos foi dividida em portadores de DP com TCSREM (n=50) e DP sem TCSREM (n=19) através de entrevista clínica detalhada e análise da PSG. Resultados: QT-TCSREM-BR apresentou consistência interna adequada (α de Cronbach=0,809) e, exceto pelo item 8, correlação item-total adequada. Reteste feito em uma segunda amostra (n=13, consecutivos) evidenciou concordância elevada para o escore total (coeficiente de correlação intraclasse, CCI=0,863) e aceitável para os itens 2, 3, 6.2, 6.3, 7 e 8 (K>0,60). Análise da curva característica de operação do receptor (COR) obteve uma área sob a curva de 0,728. O corte 4 permitiu o diagnóstico correto de 76,8% dos indivíduos e apresentou o melhor equilíbrio entre sensibilidade (84%) e especificidade (57,9%), com uma razão de verossimilhança de um resultado positivo (RV+) 2,0 e de um resultado negativo (RV-) 0,3. Os itens 2 e 6.2 obtiveram especificidade 84,2% e RV+ 3,2. Itens combinados 1+2+6,2, 2+6,1 e 6,1+6,2 aumentaram a especificidade para 94,7%, com RV+ variando de 6,1 até 7,6. Conclusões: O QT-TCSREM-BR é um instrumento confiável que pode ser útil para o diagnóstico do TCSREM em pacientes com DP no Brasil. O instrumento também é válido e pode auxiliar numa melhor seleção de casos a serem submetidos a uma avaliação mais detalhada ou até mesmo a uma análise de PSG.