Genetic Epidemiology and Clinical Characteristics of Patients with Spinocerebellar Ataxias in an Unexplored Brazilian State, Using Strategies for Resource-Limited Settings.

Spinocerebellar ataxias (SCAs) have a worldwide average prevalence of 2.7 cases per 100,000 individuals, with significant geographic variability. This study aimed to develop resource-limited strategies to detect and characterize the frequency and genetic-clinical profile of SCAs in an unexplored population from Alagoas State, a low Human Development Index state in northeastern Brazil. Active search strategies were employed to identify individuals with a diagnosis or clinical suspicion of SCAs, and a protocol for clinical and molecular evaluation was applied in collaboration with a reference center in Neurogenetics. A total of 73 individuals with SCAs were identified, with a minimum estimated prevalence of 2.17 cases per 100,000 inhabitants. SCA3 was the most common type (75.3%), followed by SCA7 (15.1%), SCA1 (6.8%), and SCA2 (2.7%). Patients with SCA3 subphenotype 2 were the most predominant. Detailed analysis of patients with SCA3 and SCA7 revealed age at onset and clinical features congruent with other studies, with gait disturbance and reduced visual capacity in SCA7 as the main initial manifestations. The study also identified many asymptomatic individuals at risk of developing SCAs. These findings demonstrate that simple and collaborative strategies can enhance the detection capacity of rare diseases such as SCAs in resource-limited settings and that Alagoas State has a minimum estimated prevalence of SCAs similar to the world average.

Could an increased risk of obstructive sleep apnoea be one of the determinants associated with disability in individuals with cardiovascular and cerebrovascular diseases?

PURPOSE: To investigate a possible association between the risk of obstructive sleep apnoea (OSA) and disability in individuals with cardiovascular or cerebrovascular diseases. METHODS: Cross-sectional study was conducted with 373 individuals (313 with cardiovascular or cerebrovascular diseases and 60 healthy). Disability was assessed by the 12-item World Health Organization Disability Assessment Schedule (WHODAS), and the risk of OSA was assessed by STOP-BANG. Anxiety and depression symptoms, daytime sleepiness, and cognition were assessed by the Hospital Anxiety and Depression Scale (HADS), Epworth Sleepiness Scale (ESS), and Mini Mental State Examination (MMSE). RESULTS: Greater disability was found in individuals with intermediate or high risk of OSA, considering healthy individuals (p=0.03), or individuals diagnosed with arrhythmia (p<0.01) or coronary artery disease (p=0.04). A high risk of OSA and higher WHODAS scores was significant among women as well as between OSA risk categories (p<0.01). Cognitive deficit and level of education also showed differences between OSA risk categories. Age, depression, and sleepiness were also associated with the subjects' disability (p<0.01). Gamma regression model showed higher WHODAS scores in female, in those with intermediate and high risk of OSA, and in those with depressive symptoms and cognitive deficit. Age also showed a correlation with higher WHODAS scores. The presence of all investigated cardio and cerebrovascular diseases showed an increase in the WHODAS score, implying a greater disability compared to healthy individuals. CONCLUSION: Moderate and high risk of OSA is associated with disability, as well as gender, age, depressive symptoms, cognitive deficit, and cardiovascular diseases.

Voxel-Based Morphometry and Relaxometry Demonstrate Macro- and Microstructural Damages in Spinocerebellar Ataxia Type 3.

Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is the most common SCA worldwide and comprises about 70% of SCA patients in Brazil. Magnetic resonance imaging (MRI) sequences have been used to describe microstructural abnormalities in many neurodegenerative diseases and helped to reveal the excessive iron accumulation in many of these conditions. This study aimed to characterize brain changes in gray matter (GM) and white matter (WM), detected by voxel-based morphometry (VBM) and relaxometry in patients with SCA3/MJD. A group of consecutive individuals, older than 18 years of age, with symptomatic and genetically proven SCA3/MJD diagnosed, and a control group, were submitted to clinical evaluation and MRI. The images were analyzed using VBM technique and relaxometry. The global assessment of brain volume by region of interest showed a significant difference in GM between SCA3/MJD and normal controls. VBM was used to locate these volumetric changes and it revealed a noticeable difference in the GM of the cerebellum and the brainstem. The global assessment of the brain by relaxometry also showed a significant difference in the comparison of GM between SCA3/MJD and normal controls, detecting noticeable prolongation of T2 time in the medulla oblongata (p < 0.001) and in the pontine tegmentum (p = 0.009) in SCA3/MJD compared to control group. Our study suggests that SCA3/MJD affects the macrostructure of the cerebellum and brainstem and microstructure of pons and medulla oblongata GM, as already demonstrated in the pathological study.

Persistent psychosis associated with extreme delta brush in anti-NMDA receptor encephalitis: a case report.

BACKGROUND: Anti-NMDAR encephalitis is an emerging differential diagnosis of first episode and persistent psychosis in the psychiatric community, as clinical manifestations include psychiatric symptoms, cognitive dysfunction, seizures, decreased consciousness, and dyskinesias. This disease is associated with extreme delta brush (EDB), but the significance and temporal course of this EEG pattern still needs to be determined. Herein, we report a case of anti-NMDAR encephalitis with persistent psychosis associated with EDB occurrence on multiple occasions during a 5-year disease course. CASE PRESENTATION: A 15-year-old girl was diagnosed with anti-NMDAR encephalitis and treated with progressive improvement. Four years after initial manifestations, an EDB pattern was seen on electroencephalogram (EEG) without new neurological symptoms. She had residual symptoms of episodic auditory hallucinations and impulsivity. One year later, the patient had a recurrence of neurological symptoms (seizures, dyskinesias and impaired attention), persisting with EDB on EEG. Clinical symptoms and EDB resolved after second-line treatment with rituximab. CONCLUSION: We describe the first case of persistent psychosis in anti-NMDAR encephalitis associated with extreme delta brush on multiple EEGs on prolonged follow-up. Electroencephalographic patterns such as EDB may serve as markers of residual disease activity, including psychiatric symptoms. Further studies with prolonged EEG monitoring are needed to better understand these findings.

Controversies in immunotherapy for anti-NMDA receptor encephalitis: a scoping review with a proposal of operational definitions.

Anti-NMDA receptor encephalitis (NMDARE), an autoimmune encephalitis associated with autoantibodies against the N-methyl-D-aspartate (NMDA) receptor, affects predominantly young women and is associated with psychiatric symptoms, seizures, movement disorders, and autonomic instability. Traditional treatments of anti-NMDA receptor encephalitis involve corticosteroids, intravenous immunoglobulin, plasmapheresis, cyclophosphamide, and rituximab. However, many controversies remain in the treatment for NMDA receptor encephalitis, such as optimal timing and combination of different immunotherapies, the role of newer strategies (e.g., bortezomib or tocilizumab) for severe and refractory patients, and the need or not for long-term immunosuppression. Our goal was to perform a scoping review to discuss the controversial topics of immunotherapy for NMDA receptor encephalitis and propose operational definitions to guide clinical practice and future research in the field.

Translation, transcultural adaptation, and validation of the Brazilian Portuguese version of the Obstructive Sleep Apnea Knowledge and Attitudes (OSAKA) questionnaire.

PURPOSE: To analyse the psychometric properties of the translated and cross-culturally adapted version of the OSAKA (Obstructive Sleep Apnea Knowledge and Attitudes) questionnaire in the Brazilian Portuguese language. METHODS: The OSAKA instrument was translated by two independent translators, and the back-translated conciliated version was presented and approved by Washington University, which holds the intellectual property for the OSAKA questionnaire. Physicians from different specialties electronically completed the OSAKA instrument and the ASKME (Assessment of Sleep Knowledge in Medical Education) questionnaire, which was used as an auxiliary instrument to analyse the construct validity. RESULTS: The questionnaire was tested with 176 physicians. The items from the knowledge and attitudes domains presented acceptable internal consistency values, with McDonald's omega coefficients (Ω) of 0.70 and 0.73, respectively. The OSAKA questionnaire showed a moderate correlation with the ASKME instrument (r = 0.60, p < 0.001) and excellent retest reliability, with an intraclass correlation coefficient of 0.81. There were differences in knowledge between the medical specialties (p < 0.001). Regarding attitudes, most respondents considered obstructive sleep apnoea and its diagnosis to be important and felt confident in identifying it, but the same majority did not feel confident in treating the disease. CONCLUSION: The OSAKA instrument, as a translated and cross-culturally adapted Brazilian Portuguese version, presented psychometric properties with adequate reliability and validity.

Central hypersomnia and chronic insomnia: expanding the spectrum of sleep disorders in long COVID syndrome - a prospective cohort study.

INTRODUCTION: Long-onset COVID syndrome has been described in patients with COVID-19 infection with persistence of symptoms or development of sequelae beyond 4 weeks after the onset of acute symptoms, a medium- and long-term consequence of COVID-19. This syndrome can affect up to 32% of affected individuals, with symptoms of fatigue, dyspnea, chest pain, cognitive disorders, insomnia, and psychiatric disorders. The present study aimed to characterize and evaluate the prevalence of sleep symptoms in patients with long COVID syndrome. METHODOLOGY: A total of 207 patients with post-COVID symptoms were evaluated through clinical evaluation with a neurologist and specific exams in the subgroup complaining of excessive sleepiness. RESULTS: Among 189 patients included in the long COVID sample, 48 (25.3%) had sleep-related symptoms. Insomnia was reported by 42 patients (22.2%), and excessive sleepiness (ES) was reported by 6 patients (3.17%). Four patients with ES were evaluated with polysomnography and test, multiple sleep latencies test, and actigraphic data. Two patients had a diagnosis of central hypersomnia, and one had narcolepsy. A history of steroid use was related to sleep complaints (insomnia and excessive sleepiness), whereas depression was related to excessive sleepiness. We observed a high prevalence of cognitive complaints in these patients. CONCLUSION: Complaints related to sleep, such as insomnia and excessive sleepiness, seem to be part of the clinical post-acute syndrome (long COVID syndrome), composing part of its clinical spectrum, relating to some clinical data.

Moyamoya associated with Turner syndrome in a patient with type 2 spinocerebellar ataxia-Occam's razor or Hickam's dictum: a case report.

BACKGROUND: Turner syndrome (TS) is a rare condition associated with a completely or partially missing X chromosome that affects 1 in 2500 girls. TS increases the risk of autoimmune diseases, including Graves' disease (GD). Moyamoya disease is a rare cerebral arteriopathy of unknown etiology characterized by progressive bilateral stenosis of the internal carotid artery and its branches. Both TS and GD have been associated with Moyamoya. Type 2 spinocerebellar ataxia (SCA2) is an autosomal dominant cerebellar ataxia caused by a CAG repeat expansion in ATXN2. We present the first case of Moyamoya syndrome in a patient with a previous diagnosis of TS and GD who tested positive for SCA2 and had imaging findings compatible with an overlap of SCA2 and Moyamoya. CASE PRESENTATION: A 43-year-old woman presented with mild gait imbalance for 2 years. Her family history was positive for type 2 spinocerebellar ataxia (SCA2). She had been diagnosed with Turner Syndrome (45,X) and Graves disease three years before. Brain MRI revealed bilateral frontal and parietal cystic encephalomalacia in watershed zones, atrophy of pons, middle cerebellar peduncles and cerebellum. MR angiography showed progressive stenosis of both internal carotid arteries with lenticulostriate collaterals, suggestive of Moya-Moya disease. Molecular analysis confirmed the diagnosis of SCA2. CONCLUSIONS: With increased availability of tools for genetic diagnosis, physicians need to be aware of the possibility of a single patient presenting two or more rare diseases. This report underscores the modern dilemmas created by increasingly accurate imaging techniques and available and extensive genetic testing.

Normal pressure hydrocephalus associated with COVID-19 infection: a case report.

BACKGROUND: COVID-19 is a pandemic disease responsible for many deaths worldwide. Many neurological manifestations have been described. We report a case of normal pressure hydrocephalus (NPH) 2 months after acute COVID19 infection, in a patient without other risk factors. CASE PRESENTATION: A 45-year-old male patient presented an 8-month history of progressive gait disorder and cognitive impairment after being hospitalized for SARS-CoV-2 infection. Magnetic resonance imaging (MRI) was compatible with NPH. A spinal tap test was positive and there was progressive improvement after shunting, with complete resolution of symptoms. CONCLUSION: Other infections such as syphilis, cryptococcosis and Lyme disease have been associated with NPH. Possible mechanisms for NPH after COVID include disruption of choroid plexus cells by direct viral invasion or as a result of neuroinflammation and cytokine release and hypercoagulability leading to venous congestion and abnormalities of CSF flow. Given the significance of NPH as a cause of reversible dementia, it is important to consider the possibility of a causal association with COVID19 and understand the mechanisms behind this association.

Characteristics and management of Susac syndrome in an emergent country: a multi-center case series from Brazil.

BACKGROUND: Susac syndrome (SS) is a rare endotheliopathy with an estimated prevalence of 0.14-0.024 per 100,000. It is an important differential diagnosis in demyelinating disorders. There are few case series and no large randomized controlled trials, and most reports come from developed countries. We report six cases of SS in three centers in Brazil and discuss management challenges in emergent countries. METHODS: This is a retrospective case series of patients diagnosed with SS in three medical centers in Brazil between April 2018 and July 2021. The European Susac consortium (EuSaC) criteria were used for diagnosis of SS. Demographic data and clinical interventions were described and outcomes were assessed subjectively and by applying the modified Rankin Scale (mRS) on last follow-up. RESULTS: Six patients were diagnosed with SS (3 males, 3 females). Mean age at presentation was 36 years (range 17 to 54). The most common initial symptom was confusion, followed by visual impairment and hearing loss. Characteristic snowball lesions on magnetic resonance imaging (MRI) were present in four patients (66%). Retinal artery abnormalities were present in half (3/6) of patients, and sensorineural hearing loss was present in four patients (66%). Outcome was favorable (mRS ≤ 2) in five patients (86%). Patients treated early had a more favorable outcome. CONCLUSION: Emergent countries face challenges in the diagnosis and management of patients with SS, such as access to advanced tests (fluorescein angiography, serial MRI) and treatment drugs (rituximab, mycophenolate). Further research should consider particularities of patients with SS in emergent countries.

Covid-19 post-infectious acute transverse myelitis responsive to corticosteroid therapy: report of two clinical cases.

SARS-COV-2 infection has affected millions of individuals with a wide range of clinical manifestations, including central and peripheral nervous systems through several mechanisms. A rare but potentially severe manifestation of this virus is transverse myelitis. Herein, we report on two patients who developed paraparesis, sensory deficit, and autonomic changes on the tenth day after infection by COVID-19. A 27-year-old man, previously healthy, had symptoms of COVID-19 confirmed by oropharyngeal and nasopharyngeal swab tests. On the tenth day of symptoms, the patient started to experience acute paraparesis, urinary retention, constipation, and hypoesthesia up to the T4 level. The second patient is a 50-year-old man, previously healthy, who had symptoms of the flu-like syndrome. The diagnosis of COVID-19 infection was confirmed by oropharyngeal and nasopharyngeal swab tests. On the tenth day of symptoms, the patient started to experience paraparesis, urinary incontinence, and hypoesthesia up to the T6 level. The neuroimaging and cerebrospinal fluid (CSF) analysis of both patients confirmed acute transverse myelitis after COVID-19 infection. High-dose corticosteroid therapy was started, and both patients showed rapid recovery from their deficits. Although rare, post-infectious transverse myelitis may be related to SARS-COV-2 infection and should be quickly recognized. Although controlled studies are needed, treatment with corticosteroid therapy in high doses was effective in these patients.

A wide spectrum of neurological manifestations in pediatrics patients with the COVID-19 infection: a case series.

Neurological symptoms in COVID-19 patients can also be found in the pediatric population, but they are usually described as mild symptoms. Herein, we described a case series of four pediatric patients with severe and highly heterogeneous central and peripheral nervous system manifestations. The objective was to report neurological manifestations of COVID-19 in children and adolescents. The design is case series. The participants are four children and adolescents with confirmed COVID-19. The main outcome and measures are as follows: Clinical data were gathered from electronic medical records, and data of all neurologic symptoms were checked by a trained neurologist. We reported four pediatric patients with COVID-19 and different neurologic symptoms. Case 1 was a 16-year-old girl with a sensory and motor polyradiculopathy with RT-qPCR for COVID-19 and dengue both detected in CSF that improved after appropriate treatment. Case 2 was a 15-year-old boy with Guillain-Barre syndrome and had good response after using human immunoglobulin. Case 3 was a 5-year-old girl with acute intracranial hypertension that improved after going through lumbar puncture and using acetazolamide. Case 4 was a 2-month-old male infant with focal epileptic seizures that recovered after antiepileptic treatment. We highlight the need to consider different neurologic manifestations as part of the COVID-19 clinical spectrum.

Which Factors in Spinocerebellar Ataxia Type 3 Patients Are Associated with Restless Legs Syndrome/Willis-Ekbom Disease?

There is evidence of a higher prevalence of restless legs syndrome/Willis-Ekbom disease (RLS/WED) in individuals with spinocerebellar ataxia type 3 (SCA3), although the factors underlying this association remain unknown. The present study aimed to determine the prevalence of RLS/WED in SCA3 patients and to investigate which factors of SCA3 patients are associated with presence of RLS/WED. From February to August of 2006, we carried out clinical interviews in 40 controls and 40 SCA3 patients, diagnosed and followed up at Faculty of Medicine of Ribeirão Preto, University of São Paulo. Twenty-seven SCA3 patients were submitted to a detailed clinical protocol, electroneuromyography, blood work up, polysomnography (PSG), suggested immobilization test (SIT), and magnetic resonance image (MRI). RLS/WED was found in 27.5% of SCA3 patients and 2.5% of normal controls (p = 0.003). The factors related to RLS/WED in SCA3 patients were female gender, age at start of the symptoms of ataxia after 30 years, presence of peripheral neuropathy, and documented iron deficiency. Among SCA3 patients, those with RLS showed higher values of maximal discomfort level and discomfort level sum compared to non-RLS individuals on SIT. There is a relation between RLS/WED and SCA3, which seems to be resultant of different factors whose identification could improve the quality of assistance to those patients as well as to promote a better comprehension of the pathophysiology of both RLS/WED and SCA3.

Are the International Classification of Functioning, Disability and Health (ICF) domains considered in the obstructive sleep apnea instruments? An integrative review.

PURPOSE: Obstructive Sleep Apnea (OSA) is related to cardiovascular, metabolic, and neurocognitive diseases. Furthermore, OSA symptoms, such as excessive sleepiness, fatigue, and mood disorders, may interfere in functioning. The assessment of this aspect in patients with OSA is not frequent and no specific instrument is available in the literature. Our aim is to identify if the International Classification of Functioning, Disability and Health (ICF) domains are considered in the validated instruments used to assess patients with OSA. METHODS: In this integrative literature review, three databases were searched: Pubmed, Embase, and LILACS. Bibliographic survey was carried out in 2020, between March and July. Articles published in English, Portuguese, and Spanish with validated tools to assess OSA in adults were included. RESULTS: Thirty instruments have undergone a process of concept extraction and coding according to the ICF, generating a total of 769 significant concepts. It was observed that the function domain was the most prevalent, making 42% (n = 323) of the concepts, followed by domains of activity (16%), participation (10%), environmental factors (5%), personal factor (5%), and structure (1%). Only one instrument, the "Sleep Apnea Quality of Life Index (SAQLI)," encompasses all domains of the ICF in its constructs. CONCLUSION: In the analyzed instruments, the function domain prevails, with most concepts related to sleep functions. Only one validated instrument included in this research covered all the ICF domains. This instrument closely matched the recommended way of assessing functioning, though it approached the domains in an unbalanced way.

Beyond the Typical Syndrome: Understanding Non-motor Features in Niemann-Pick Type C Disease.

Niemann-Pick type C (NPC) is a rare autosomal recessive disorder characterized by storage of unesterified glycolipids and cholesterol in lysosome. NPC's clinical presentation is highly heterogeneous, depending on the time of onset. It encompasses visceral, neurological, and/or psychiatric manifestations. As the motor findings are so important and devastating in this disease, there is a lack of description about non-motor symptoms, even though they play important role in quality of life of NPC patients. We described the most common non-motor findings in NPC like cognitive dysfunction, neuroimaging, psychiatric symptoms, sleep disorders, seizures, hearing problems, respiratory and other systemic features, bladder and fecal dysfunction, hypersalivation, and malnutrition. In this review, we highlighted the importance of these undervalued symptoms and their management. Specific measures of all aforementioned clinical features may work as relevant biomarkers in order to evaluate successful therapies in future clinical trials.

Chronic Insomnia in Patients With Parkinson Disease: Which Associated Factors Are Relevant?

BACKGROUND: Insomnia complaints are frequent in Parkinson disease (PD), affecting up to 55% of patients. Factors related to insomnia in PD are multifactorial and may be associated with the degenerative process of the disease, comorbidities related to aging, and medication use. The aim of this study is to determine the factors associated with the presence of chronic insomnia in patients with PD. METHOD: A cross-sectional study was performed involving 63 consecutive patients with PD from an outpatient clinic. Participants underwent clinical interviews with neurologists and a psychiatrist and were assessed with standardized scales (Epworth Sleepiness Scale, Parkinson's Disease Questionnaire, Pittsburgh Sleep Quality Index and, for individuals with a diagnosis of restless legs syndrome(RLS)/Willis-Ekbom disease (WED), the International RLS/WED grading scale) and video-polysomnography. RESULTS: The main factors associated with chronic insomnia in PD were the habit of staying in bed without sleeping, large rapid eye movement (REM) sleep latency, high Pittsburgh Sleep Quality Index scores, and absence of obstructive sleep apnea (OSA). CONCLUSION: Insomnia in PD is related to specific factors including inadequate sleep habits, REM sleep latency, absence of OSA, and quality of sleep.

Immunoglobulin-responsive chikungunya encephalitis: two case reports.

Chikungunya virus is an alphavirus transmitted by the mosquito Aedes, mainly Aedes aegypti and Aedes albopictus, that can cause acute illness, mostly self-limited, characterized by fever, maculopapular rash, and disabling polyarthritis/arthralgia, with an incubation period of 1 to 12 days. Chikungunya was largely regarded as a non-fatal and self-limited disease, but recently, serious cases have been reported including some with severe involvement of the nervous system, such as meningoencephalitis, myelitis, polyradiculitis, and polyradiculoneuropathy. In this report, we describe the clinical and laboratory findings of two patients with encephalitis associated with chikungunya in a northeastern city in Brazil, who exhibited a good outcome, with improvement after treatment with i.v. immunoglobulin (IVIg).

High Frequency of Sleep Disorders in Parkinson's Disease and Its Relationship with Quality of Life.

OBJECTIVES: To determine the frequency of major sleep disorders in patients with Parkinson's disease (PD), diagnosed according to the third international classification of sleep disorders, and assess the relationship of those disorders with the quality of life. METHODS: A cross-sectional study was performed involving 88 consecutive patients with PD from outpatient clinic. Participants were subjected to clinical interviews, assessment using standardized scales (Epworth Sleepiness Scale, PD Questionnaire, Pittsburgh sleep quality index (PSQI) and, for individuals with a diagnosis of RLS/WED, International RLS/WED grading scale), and video-polysomnography. RESULTS: We observed sleep disorders in 96.5% of the participants, with REM-sleep behavior disorder found in 62.5%, obstructive sleep apnea in 62.5%, insomnia in 55.7%, and restless legs syndrome in 28.4%. We observed a correlation between health-related quality of life with the PSQI and the Epworth sleepiness scale. CONCLUSION: Patients with PD have a high prevalence of sleep disorders. The quality of sleep and excessive daytime sleepiness significantly affect the quality of life in these individuals.

Excessive fragmentary myoclonus in patients with Parkinson's disease: prevalence and clinico-polysomnographic profile.

OBJECTIVE AND BACKGROUND: Excessive fragmentary myoclonus (EFM) is characterized by subtle arrhythmic and excessive jerks that are usually asymmetric and asynchronous. EFM occurs in different areas of the body, mainly the face and distal parts of the arms and legs, and is detected by surface electromyography during sleep. The present study aimed to determine the prevalence of EFM in Parkinson's disease (PD) patients at a tertiary level outpatient clinic as well as to describe the clinical and polysomnographic profiles of these patients. METHODS: A total of 62 consecutive PD patients were included in the study. Patients were evaluated using the Brazilian version of the PD Sleep Scale, Portuguese Language version of Epworth's Daytime Sleepiness Scale validated for Brazilian population, Brazilian Portuguese version of PD Quality of Life Scale, and Global Deterioration Scale. Evaluation of the sleep disorders was performed by clinical interview and polysomnography. RESULTS: EFM was found in 62.7% of PD patients. EFM was found to be associated with obstructive sleep apnea syndrome and advanced age. CONCLUSIONS: EFM occurs in a significantly high proportion of PD patients and is related to obstructive sleep apnea syndrome (OSAS) and advanced age, so EFM should be systematically investigated by polysomnography (PSG) in PD patients.

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.