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.

Profiles of indigenous patients with epilepsy in a Brazilian village.

INTRODUCTION: Identifying epilepsy in local indigenous populations and describing its epidemiological, etiological, electroencephalographic, and therapeutic aspects can assist public health policies planning toward epilepsy in indigenous communities. METHODS: This descriptive, cross-sectional study investigated epilepsy among indigenous people residing in Jaguapirú Village, Dourados, Mato Grosso do Sul, Brazil. Participants had their clinical histories reviewed and physical examination performed, as well as one or more electroencephalograms (EEG) registered. Other laboratory tests and neuroimaging data available were analyzed and patients with nonepileptic paroxysmal events were additionally identified. RESULTS: Out of 2,994 respondents, 49 had a confirmed diagnosis of epilepsy (2.37%) and 22 had self-limited epileptic syndromes, a rate that exceeds the global prevalence but is close to other data reported in the Brazilian population. Focal epilepsy, predominantly from temporal lobe origin, was the most prevalent epileptic syndrome (71.4%). Febrile seizures occurred in only 0.4% of respondents, much lower rate than reported in the general population, which can be attributed to the cross-sectional study design. The etiology of epilepsy was undetermined in 82.6% of cases, with the remaining cases attributed to head trauma, hypoxic-ischemic encephalopathy, and brain malformations. A history of delayed neuropsychomotor development was significantly associated with epilepsy. Monotherapy with first-generation antiseizure medications was greatly effective in most epilepsy cases (87.7%). Electroencephalogram helped to define focal epilepsies and diagnose seizures of nonepileptic origin; the latter mostly included cases of psychogenic seizures and, less frequently, syncope. CONCLUSION: Diagnosing epilepsy, its clinical presentation, and therapeutical response profile in traditional communities is essential for the establishment of public health policies in developing countries and may help community involvement for successful treatment.

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.

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.

Impact of epilepsy surgery on quality of life and burden of caregivers in children and adolescents.

OBJECTIVE: The objective of this study was to analyze the impact of pediatric epilepsy surgery on the quality of life (QOL), determining whether patients improve, worsen, or maintain their preoperative patterns, as it relates to the burden of caregivers, as well as evaluating potential related factors, from both the children and caregivers perspectives. MATERIAL AND METHODS: This is a retrospective study of children and adolescents who underwent epilepsy surgery and were evaluated through clinical data, videoelectroencephalogram (V-EEG), neuroimaging findings, neuropsychological testing, and aspects of QOL. These assessments were performed prior to surgery and after six months and two years of follow-up. Quality of life was assessed with epilepsy-specialized questionnaires, namely Questionnaire health-related quality of life for children with epilepsy (QVCE-50), Autoquestionnaire Qualité de Vie Enfant Image Scale (AUQUEI), Quality of life in epilepsy inventory for adolescents (QOLEI-AD-48); and burden of caregivers with Burden Interview - ZARIT scale. Postoperative changes in QVCE-50 were quantified using measures of the analysis of variance (ANOVA MR) for comparison of the difference between the three times of the scale and domains. RESULTS: Fifty patients were enrolled. Of these, 27 (54%) were male, with a mean age at surgery of 8.2 years (range: 1-18 years). Thirty-five patients (70%) were Engel I and one was Engel II (2%) at six months of follow-up, whereas 28 (56%) were Engel I and 32 (64%) were Engel I or II at two years of follow-up. Preoperatively, 21 (42%) presented with moderate or severe intellectual disability. Postoperative cognitive evaluations at the two-year follow-up showed 18 (36%) maintained similar deficits. The QVCE-50 showed postoperative improvement in the two-year follow-up period, but not at six months after surgery. Postoperative improvements were associated mainly with better seizure outcome. Autoperception evaluations were limited because of the clinical and cognitive severity of patients. The burden of caregivers was quoted as mild to moderate and remained unchanged postoperatively. CONCLUSIONS: Children and adolescents with surgically treated epilepsy reach a good seizure outcome, stabilize in intellectual and adaptive functions, and have an increase in QOL, from the caregiver's perspective. Nevertheless, their burden remains unchanged. Seizure outcome is the main factor for improvement in the QOL. The upgrading of structured questionnaires and QOL instruments specific to pediatric epilepsy can be helpful to assess patient- and caregiver-reported surgical outcomes, allowing for better planning of therapeutic approaches.

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.

Is restless legs syndrome in Parkinson disease patients associated with any specific factor?

BACKGROUND: Restless legs syndrome or Willis-Ekbom disease is a disorder characterized by unpleasant sensations associated with the need to mobilize the lower limbs. In Parkinson disease patients, restless legs syndrome is associated with worse quality of life and excessive sleepiness. Regarding other factors, results of different studies are controversial. OBJECTIVE: To determine the factors associated with the restless legs syndrome presence in Parkinson disease patients. METHODS: A cross-sectional study was conducted in 88 consecutive Parkinson disease patients from the outpatient clinic for 21 months. Participants underwent a clinical interview, assessment based on standardized scales (Epworth Sleepiness Scale, Parkinson Disease Questionnaire - 39, Pittsburgh Sleep Quality Index, International Restless Legs Syndrome Study Group rating scale), and video-polysomnography. RESULTS: Out of the 88 participants, 25 had restless legs syndrome. In the multivariate analysis, restless legs syndrome in Parkinson disease has been associated with the symptom of smell loss and quality of sleep and life. In the univariate analysis, restless legs syndrome in Parkinson disease has occurred more frequently in women with higher frequency of insomnia, constipation, and anosmia than in the group without restless legs syndrome. CONCLUSION: Restless legs syndrome is a prevalent condition in patients with Parkinson disease and is associated with specific characteristics in this group of patients.

[Brazilian guidelines for the diagnosis of narcolepsy]. / Diretrizes brasileiras para o diagnóstico da narcolepsia.

This manuscript contains the conclusion of the consensus meeting on the diagnosis of narcolepsy based on the review of Medline publications between 1980-2010. Narcolepsy is a chronic disorder with age at onset between the first and second decade of life. Essential narcolepsy symptoms are cataplexy and excessive sleepiness. Cataplexy is defined as sudden, recurrent and reversible attacks of muscle weakness triggered by emotions. Accessory narcolepsy symptoms are hypnagogic hallucinations, sleep paralysis and nocturnal fragmented sleep. The clinical diagnosis according to the International Classification of Sleep Disorders is the presence of excessive sleepiness and cataplexy. A full in-lab polysomnography followed by a multiple sleep latency test is recommended for the confirmation of the diagnosis and co-morbidities. The presence of two sleep-onset REM period naps in the multiple sleep latency test is diagnostic for cataplexy-free narcolepsy. A positive HLA-DQB1*0602 with lower than 110pg/mL level of hypocretin-1 in the cerebrospinal fluid is required for the final diagnosis of cataplexy- and sleep-onset REM period -free narcolepsy.

[Brazilian guidelines for the treatment of narcolepsy]. / Diretrizes brasileiras para o tratamento da narcolepsia.

This manuscript contains the conclusion of the consensus meeting of the Brazilian Sleep Association with Brazilian sleep specialists on the treatment of narcolepsy based on the review of medical literature from 1980 to 2010. The manuscript objectives were to reinforce the use of agents evaluated in randomized placebo-controlled trials and to issue consensus opinions on the use of other available medications as well as to inform about safety and adverse effects of these medications. Management of narcolepsy relies on several classes of drugs, namely, stimulants for excessive sleepiness, antidepressants for cataplexy and hypnotics for disturbed nocturnal sleep. Behavioral measures are likewise valuable and universally recommended. All therapeutic trials were analyzed according to their class of evidence. Recommendations concerning the treatment of each single symptom of narcolepsy as well as general recommendations were made. Modafinil is the first-line pharmacological treatment of excessive sleepiness. Second-line choices for the treatment of excessive sleepiness are slow-release metylphenidate followed by mazindol. The first-line treatments of cataplexy are the antidepressants, reboxetine, clomipramine, venlafaxine, desvenlafaxine or high doses of selective serotonin reuptake inibitors antidepressants. As for disturbed nocturnal sleep the best option is still hypnotics. Antidepressants and hypnotics are used to treat hypnagogic hallucinations and sleep paralysis.

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.

Obstructive sleep apnea and Parkinson's disease: characteristics and associated factors.

Obstructive sleep apnea (OSA) occurs in up to 66% of Parkinson's disease (PD) patients, higher than in the general population. Although it is more prevalent, the relationship between OSA and PD remains controversial, with some studies confirming and others denying the relationship of OSA with some risk factors and symptoms in patients with PD. OBJECTIVE To determine the factors associated with OSA in PD patients com DP. METHODS A cross-sectional study was performed with 88 consecutive patients with PD from the outpatient clinic. Participants underwent clinical interviews with neurologists and a psychiatrist, assessment using standardized scales (Epworth Sleepiness Scale, Parkinson's Disease Questionnaire, Pittsburgh Sleep Quality Index and, for individuals with a diagnosis of restless legs syndrome/Willis-Ekbom disease, the International Restless Legs Syndrome Rating Scale), and video-polysomnography. RESULTS Individuals with PD and OSA were older and had less insomnia than those with PD without OSA. Regarding the polysomnographic variables, we observed a lower percentage of stage N3 sleep, a higher arousal index, and a higher oxygen desaturation index in those individuals with OSA, relative to those without OSA. In the multivariate analysis, only the percentage of stage N3 sleep and the oxygen desaturation index were significantly different. Besides this, most of the PD patients with OSA had a correlation with sleeping in the supine position (58% of OSA individuals). CONCLUSION The PD patients showed a high prevalence of OSA, with the supine position exerting a significant influence on the OSA in these patients, and some factors that are associated with OSA in the general population did not seem to have a greater impact on PD patients.

Factors related to excessive sleepiness in patients with Parkinson's disease.

INTRODUCTION: Excessive sleepiness (ES) can affect up to 60% of Parkinson's disease (PD) patients, and it has a multifactorial etiology. It is related to the neurodegenerative processes affecting brain regions responsible for the sleep-wake cycle, the effects of drugs acting on the central nervous system, and the excessive sleep fragmentation of this population. OBJECTIVES: To identify the factors associated with the presence of ES in patients with PD. METHODS: A cross-sectional study was performed involving 88 consecutive patients with PD from an outpatient clinic. Participants underwent clinical interviews with neurologists and psychiatrist, assessment using standardized scales (Epworth Sleepiness Scale, Parkinson's disease Questionnaire, Pittsburgh Sleep Quality Index and, for individuals with a diagnosis of RLS/WED, International RLS/WED grading scale), and video-polysomnography. RESULTS: The complaint of ES was observed in 55.6% of the participants. The main related factors were: the presence of psychotic disorder, the presence of anxiety disorder, and the use of dopaminergic agonists. No higher prevalence of obstructive sleep apnea and any other sleep disorder was observed in PD group with ES in comparison with the group without ES. CONCLUSION: PD patients present a high prevalence of ES, and some factors, different from those observed in the general population, seem to have a greater impact in this group of patients. ABBREVIATIONS: RLS/ WED: Restless legs syndrome; Willis-Eckbom Disease ES: Excessive sleepiness.

Defecation reflex seizures: a case report with long-term VEEG monitoring, neuroimaging and comprehensive epilepsy evaluation.

Reflex seizures are consistently elicited by a specific afferent sensory stimulus or an activity undertaken by the patient. Among many known stimuli, defecation has rarely been reported. We describe the case of a child with reflex seizures triggered by defecation, considering the diagnostic challenge, epilepsy evaluation with video-EEG monitoring, as well as impact on neuropsychology, behaviour and quality of life. The child was a 10-year-old boy with seizure onset at age four with epilepsy diagnosis established one and a half years later. Seizures were focal with impaired awareness triggered by defecation. Video-EEG and structural and functional neuroimaging were performed and all pointed to the left temporal region. The patient became seizure-free with carbamazepine and valproic acid. Neuropsychological and quality of life assessments suggested global impairment, both before and after seizure control. This is the third case of epilepsy induced by defecation reported in the literature. The rarity of this entity may be a diagnostic challenge and postpone specific treatment. Reporting of cases of defecation reflex epilepsy may provide a better understanding of its physiopathology and optimize effective treatment, avoiding cognitive, behavioural and poor social consequences. [Published with video sequence].

Involvement of the central nervous system in the chronic form of Chagas' disease.

BACKGROUND AND PURPOSE: Apart from the central nervous system parasitic invasion in chagasic immunodeficient patients and strokes due to heart lesions provoked by the disease, the typical neurological syndromes of the chronic phase of Chagas' disease (CD) have not yet been characterized, although involvement of the peripheral nervous system has been well documented. This study aims at investigating whether specific signs of central nervous system impairment might be associated with the disease. METHODS: Twenty-seven patients suffering from the chronic form of Chagas' disease (CCD) and an equal number of controls matched for sex, age, educational and socio-cultural background, and coming from the same geographical regions, were studied using neurological examinations, magnetic resonance images, and electroencephalographic frequency analysis. RESULTS: Nineteen patients were at the stage A of the cardiac form of the disease (without documented structural lesions or heart failure). Dizziness, brisk reflexes, and ankle and knee areflexia were significantly more prevalent in the patients than in the controls. The significant findings in quantitative electroencephalogram were an increase in the theta relative power and a decrease in the theta dominant frequency at temporal-occipital derivations. Subcortical, white matter demyelination was associated with diffuse theta bursts and theta-delta slowing in two patients. CONCLUSIONS: Our findings suggest a discrete and unspecific functional cortical disorder and possible white matter lesions in CD. The focal nervous system abnormalities in CD documented here did not seem to cause significant functional damage or severely alter the patient's quality of life.

Interictal hyperemia correlates with epileptogenicity in polymicrogyric cortex.

OBJECTIVE: To investigate pathophysiological factors underlying the presence of interictal hyperperfusion within the limits of the polymicrogyric (PMG) cortex in epileptic patients. METHODS: Retrospective observational study on interictal perfusion by Single Photon Emission Computed Tomography (SPECT) in 16 patients with PMG and its correlations with a number of clinical and neurophysiological variables. Patients underwent video-EEG monitoring, neurological and psychiatric assessments, invasive EEG, and the interictal SPECT coregistered to Magnetic Resonance Imaging (MRI). RESULTS: Patients with interictal hyperperfusion within the PMG cortex had a significantly higher spike rate on interictal EEG than patients with normal perfusion. Interictal hyperperfusion was not correlated to sex, age at epilepsy onset, age at evaluation, number of seizures per month, presence of initial precipitating insult (IPI), abnormal neurological examination, EEG findings, ictal semiology, and seizure outcome. The high interictal spike rate did not correlate to a high frequency of seizures per month. CONCLUSIONS: Our work provides further evidences for an intrinsic epileptogenesis of the PMG cortex during the interictal state, which accounts for the major role of PMG tissue in seizure generation. These results might help to increase our understanding about epileptogenesis related to the PMG cortex, providing new tools for more tailored epilepsy surgery in PMG patients.

Sydenham's chorea: clinical observations from a Brazilian movement disorder clinic.

We retrospectively evaluated the clinical and epidemiological characteristics of 100 patients suffering from Sydenham's chorea (SC). Our analysis revealed a recent, progressive decline in the number of new cases. Onset of SC was frequently reported between 7 and 12 years of age, being more frequent in females. Patients with generalized or severe chorea showed a higher risk of presenting gait abnormalities and behavioral symptoms. Chorea was transitory and remitted within the first 6 months in about 50% of patients but was persistent in 40%. Almost all patients with persistent chorea remitted after a protracted course of the disease.

Analysis of frontal sharp transients in 32 neonatal polysomnography in healthy fullterm newborns.

OBJECTIVE: To identify and quantify frontal sharp transients found in neonatal polysomnography of healthy full term newborns in each stage of the sleep-wake cycle within the first 48 hours of life. METHOD: The EEG from healthy term 32 newborns, legal age of two days and with adequate monitoring during pregnancy. Frontal sharp transients (FST) were quantified, according to synchronous or asynchronous, in each stage of the sleep-wake cycle. The results were compared by Kruskal-Wallis-test. RESULTS: FST were counted individually in each sleep phase, being present during quiet sleep (QS) in all tracings. FST bilateral and synchronous and lateralized FST were more frequent during QS (p<0.05). CONCLUSION: Lateralized FST were found mostly during quiet sleep. FST asynchronous in healthy full term newborns were normal and depended of FST density. FST unilateral appearance should not necessarily be considered abnormal as well.

Prevalence and quality of life and sleep in children and adolescents with restless legs syndrome/Willis-Ekbom disease.

OBJECTIVE: To estimate the prevalence of restless legs syndrome/Willis-Ekbom disease (RLS/WED) and its impact on sleep and quality of life in children and adolescents. METHODS: This was a cross-sectional study conducted in the Municipality of Cássia dos Coqueiros, Brazil. Participants included 383 children and adolescents 5-17 years of age. A comparison group was randomly matched by gender and age with the RLS/WED-affected individuals, pairing one by one. RESULTS: Interviews were conducted for 383 individuals by a neurologist experienced in sleep medicine. RLS/WED was diagnosed using the essential clinical criteria for definitive RLS/WED in children recommended by the International Restless Legs Syndrome Study Group. Sleep and quality of life were evaluated using the Sleep Behavior Questionnaire (SBQ) and the Health-related Quality of Life Questionnaire─Pediatric Quality of Life Inventory (PedsQL). Comparisons were established with a group of randomly selected individuals without RLS/WED, matched by age and gender (control group). The prevalence of RLS/WED symptoms that manifested at least twice a week was 1.9%. The average age of children with RLS/WED was higher compared to the general population (11.5 ± 2.3 vs 9.9 ± 2.5, p < 0.005). A family history of RLS/WED was detected in 90.9% of the patients. The scores obtained by SBQ were higher (53.9 ± 9.4 vs 47.6 ± 10.9, p < 0.047), whereas the scores achieved by PedsQL were lower (69.8 ± 14.8 vs 81.9 ± 10.4, p < 0.003) in children with RLS/WED compared to controls. CONCLUSION: The prevalence of RLS/WED symptoms manifested at least twice in the preceding week was 1.9% in children and adolescents. Worsened sleep and quality of life were observed in the study.