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OBJECTIVE: Few studies have quantified the prevalence of restless legs syndrome (RLS) in patients with post-polio syndrome (PPS). Our objective was to assess the prevalence and severity of RLS in patients with PPS and to examine the demographic characteristics of this population. METHOD: This was a cross-sectional study conducted from April 2010 to May 2012 at the outpatient Neuromuscular Disorders clinic of Universidade Federal de São Paulo, São Paulo, Brazil. We evaluated 119 patients with PPS, consecutively recruited, and investigated for RLS based on the diagnostic criteria established by the International Restless Legs Syndrome Study Group (IRLSSG). Patients were evaluated with the Brazilian version of the IRLSSG severity scale. RESULTS: The prevalence of RLS was 36% (n = 43; 32 women and 11 men). The ages at onset of RLS (median = 41 years) and PPS (median = 41 years) were concurrent, and the correlation between onset of symptoms of RLS and onset of symptoms of PPS was positive and very strong (Spearman r = 0.93, p = 0.01). The median RLS severity was 23 (range, 20-28). Low educational achievement and depression were predictive of RLS development. CONCLUSION: In the largest population of patients with PPS studied to date, our results indicate a high prevalence of RLS, marked disease severity, and concomitant onset of both conditions in many patients with PPS. Further studies are needed to elucidate a possible pathophysiologic mechanism linking these two conditions. We suggest that all post-polio patients with sensory and motor complaints in the legs be investigated for RLS.

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BACKGROUND: Restless legs syndrome (RLS) is a common disease affecting about 5% to 15% of the population. Symptoms of RLS can be severe in a minority of and can have a major impact on sleep, mostly sleep initiation, and quality of life. Benzodiazepines are drugs that can induce and maintain sleep and, hence, intuitively are thought to be beneficial to people with RLS. Altough benzodiazepines, particularly clonazepam, are used to treat RLS symptoms, a systematic review done by the American Academy of Sleep Medicine stated that benzodiazepines should not be used as a first-line treatment, although could be used as a coadjuvant therapy. OBJECTIVES: To evaluate the efficacy and safety of benzodiazepine compared to placebo or other treatment for idiopathic RLS, including unconfounded trials comparing benzodiazepines versus open control. SEARCH METHODS: In March 2016 we searched CENTRAL, MEDLINE, Embase and LILACS We checked the references of each study and contacted study authors to identify any additional studies. We considered studies published in any language. SELECTION CRITERIA: Randomised clinical trials of benzodiazepine treatment in idiopathic RLS. DATA COLLECTION AND ANALYSIS: We did not perform data collection and analysis, since we did not include any studies, MAIN RESULTS: We did not identify any studies that met the inclusion criteria of the review. Two cross-over studies are awaiting classification because the cross-over trials did not give data at the end of the first cross-over period. AUTHORS' CONCLUSIONS: The effectiveness of benzodiazepines for RLS treatment is currently unknown.

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Pharmacotherapy has been used as an adjunct to CPAP for treatment of residual excessive sleepiness in patients with a diagnosis of obstructive sleep apnea syndrome (OSAS). However, no studies with a high level of evidence have been conducted to support this practice and confirm its effectiveness. We conducted a meta-analysis to summarize and quantify the effects of pharmacological treatment in adults with OSAS who experience residual excessive sleepiness despite adequate CPAP use. We reviewed clinical trials that compared medications to placebo and evaluated the outcomes residual excessive sleepiness, cognition, and quality of life, as well as treatment effectiveness and safety. The MEDLINE, EMBASE, LILACS, Cochrane Central Register of Controlled Trials - CENTRAL, and PsycINFO electronic databases were searched using highly sensitive search strategies. Trials were only included if measures were taken to ensure effective CPAP treatment. Eight randomized clinical trials were included. Pharmacotherapy with modafinil and armodafinil led to improvement of excessive daytime sleepiness, attention/alertness, and clinical condition as measured with the CGI-C. No improvements in quality of life or other cognitive domains (including memory, executive function, and language) could be confirmed. Pharmacotherapy did not cause any severe adverse effects, but was associated with significant dropout rates as compared with placebo. In conclusion, although our results demonstrate the effectiveness of pharmacological treatment as an adjunct to CPAP, further investigation is necessary to improve confidence in its effects. Many findings on the impact of pharmacotherapy on cognition and quality of life were evaluated through analysis of single studies, with heterogeneity in tests and absence of standardization, which reduced certainty as to whether actual improvement occurred in these outcomes.

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Spinocerebellar ataxia type 6 (SCA6) is usually described as a pure ataxia syndrome. However, SCA6 patients may have sleep complaints. In this paper, sleep disorders were investigated in patients with SCA6. Twelve SCA6 patients and 12 subjects matched by gender, age and body mass index (control group) underwent polysomnography and clinical investigation for sleep disorders. SCA6 had a higher frequency of snoring (P = 0.01), a higher index of awakening due to respiratory events (P = 0.003) and central apnea events during sleep (P = 0.024), a longer sleep Stage N1 (P = 0.02) and a lower sleep Stage N3 (P = 0.05) in SCA6 patients than in control subjects. SCA6 patients had a reduction in slow wave sleep and a higher frequency of snoring and respiratory disorders during sleep when compared to the control group.

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BACKGROUND: Restless legs syndrome (RLS) is a distressing and common neurological disorder that may have a huge impact in the quality of life of those with frequent and intense symptoms. Patients complain of unpleasant sensations in the legs, at or before bedtime, and feel an urge to move the legs, which improves with movement, such as walking. Symptoms start with the patient at rest (e.g. sitting or lying down), and follow a circadian pattern, increasing during the evening or at night. Many pharmacological intervention are available for RLS, including drugs used to treat Parkinson's disease (L-Dopa and dopaminergic agonists), epilepsy (anticonvulsants), anxiety (benzodiazepines), and pain (opioids). Dopaminergic drugs are those most frequently used for treatment of RLS, but some patients do not respond effectively and require other medication. Opioids, a class of medications used to treat severe pain, seem to be effective in treating RLS symptoms, and are recommended for patients with severe symptoms, because RLS and pain appear to share the same mechanism in the central nervous system. All available drugs are associated to some degree with side effects, which can impede treatment. Opioids are associated with adverse events such as constipation, tolerance, and dependence. This justifies the conduct of a systematic review to ascertain whether opioids are safe and effective for treatment of RLS. OBJECTIVES: To asses the effects of opioids compared to placebo treatment for restless legs syndrome in adults. SEARCH METHODS: We searched the Cochrane Central Register of Controlled trials, CENTRAL 2016, issue 4 and MEDLINE, EMBASE, and LILACS up to April 2016, using a search strategy adapted by Cochraneto identify randomised clinical trials. We checked the references of each study and established personal communication with other authors to identify any additional studies. We considered publications in all languages. SELECTION CRITERIA: Randomised controlled clinical trials of opioid treatment in adults with idiopathic RLS. DATA COLLECTION AND ANALYSIS: Two review authors independently screened articles, independently extracted data into a standard form, and assessed for risk of bias. If necessary, they discussed discrepancies with a third researcher to resolve any doubts. MAIN RESULTS: We included one randomised clinical trial (N = 304 randomised; 204 completed; 276 analysed) that evaluated opioids (prolonged release oxycodone/naloxone) versus placebo. After 12 weeks, RSL symptoms had improved more in the drug group than in the placebo group (using the IRLSSS: MD -7.0; 95% CI -9.69 to -4.31 and the CGI: MD -1.11; 95% CI -1.49 to -0.73). More patients in the drug group than in the placebo group were drug responders (using the IRLSSS: RR 1.82; 95% CI 1.37 to 2.42 and the CGI: RR1.92; 95% ICI 1.49 to 2.48). The proportion of remitters was greater in the drug group than in the placebo group (using the IRLSSS: RR 2.14; 95% CI 1.45 to 3.16). Quality of life scores also improved more in the drug group than in the placebo group (MD -0.73; 95% CI -1.1 to -0.36). Quality of sleep was improved more in the drug group measured by sleep adequacy (MD -0.74; 95% CI -1.15 to -0.33), and sleep quantity (MD 0.89; 95% CI 0.52 to 1.26).There was no difference between groups for daytime somnolence, trouble staying awake during the day, or naps during the day. More adverse events were reported in the drug group (RR 1.22; 95% CI 1.07 to 1.39). The major adverse events were gastrointestinal problems, fatigue, and headache. AUTHORS' CONCLUSIONS: Opioids seem to be effective for treating RLS symptoms, but there are no definitive data regarding the important problem of safety. This conclusion is based on only one study with a high dropout rate (moderate quality evidence).

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ABSTRACT Objective To verify if nighttime feeding habits can influence parasomnia in children. Method Seven private and four public Elementary Schools took part in the study. A total of 595 Sleep Disturbance Scale for Children were distributed to the parents of children aged from 7 to 8 years. Data of dietary recall, starting time to school, physical activity, and nutritional status were studied. Results Of the 226 questionnaires completed, 92 (41%) reported parasomnia. Girls had 2.3 times more the chance to parasomnia than boys. Children who consumed stimulant foods had 2.6 times more chance to have parasomnia than those of children who consumed non-stimulant foods. There were no difference between parasomnia and no-parasomnia groups in food type (p = 0.78) or timing of last meal before bedtime (p = 0.50). Conclusion Our findings suggest that intake of stimulant foods is associated with development of parasomnia in children.

RESUMO Objetivo Verificar se hábitos de alimentação noturna influenciam parassonias em crianças. Método Sete escolas privadas e quatro públicas, de Ensino Fundamental, fizeram parte do estudo. Um total de 595 Escalas de Distúrbio do Sono para Crianças foram distribuídas para os pais de crianças entre 7 e 8 anos. Dados de recordatório alimentar, período escolar, atividade física e estado nutricional foram estudados. Resultados Dos 226 questionários preenchidos, 92 (41%) relataram presença de parassonias. Meninas tiveram 2,3 vezes mais chance de parassonias e crianças que consumiram alimentos estimulantes tiveram 2,6 vezes mais chance de parassonias em relação àquelas que consumiram alimentos não estimulantes. Não houve diferença entre os grupos em relação ao tipo de alimento (p = 0,78) ou horário da última refeição antes de ir para a cama (p = 0,50). Conclusão Nossos achados sugerem que a ingestão de alimentos estimulantes está associada com o desenvolvimento de parassonias em crianças.

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OBJECTIVE: To verify if nighttime feeding habits can influence parasomnia in children. METHOD: Seven private and four public Elementary Schools took part in the study. A total of 595 Sleep Disturbance Scale for Children were distributed to the parents of children aged from 7 to 8 years. Data of dietary recall, starting time to school, physical activity, and nutritional status were studied. RESULTS: Of the 226 questionnaires completed, 92 (41%) reported parasomnia. Girls had 2.3 times more the chance to parasomnia than boys. Children who consumed stimulant foods had 2.6 times more chance to have parasomnia than those of children who consumed non-stimulant foods. There were no difference between parasomnia and no-parasomnia groups in food type (p = 0.78) or timing of last meal before bedtime (p = 0.50). CONCLUSION: Our findings suggest that intake of stimulant foods is associated with development of parasomnia in children.

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OBJECTIVES/HYPOTHESIS: To identify the association between surgeon/hospital volume with outcomes in surgical treatment for obstructive sleep apnea (OSA) in a nationally representative sample. We hypothesized that surgeons/hospitals with lower patient volumes would have: higher mortality rates, longer hospital length of stay (LOS), and higher postoperative complication rates and hospitalization charges. STUDY DESIGN: Secondary data analysis of the 2007 Nationwide Inpatient Sample database. METHODS: We selected 24,298 adults undergoing OSA surgery. The data analysis included trend test, regression, and multivariate models that were adjusted by demographic and clinical variables. RESULTS: The patients were mostly White (76.43%), male (78.26%), with a mean age of 46 years. Patients treated by surgeons with low volume of procedures (1 procedure/year) had significantly higher mortality rate (odds ratio [OR] 3.05; confidence interval [CI], 1.96-4.77), longer average LOS (increased until 8.16 hours), and higher hospitalization charges (increased up to $1701.75) versus medium- and high-volume surgeons (2-4 procedures/year; greater than/or equal to 5 procedures/year, respectively). Patients treated at hospitals with low volume of procedures (0-5/year) had significantly higher occurrence of oxygen desaturation (OR, 2.12; CI, 1.50-2.99), longer LOS (increased until almost 2 hours) and higher hospitalization charges (at least $951.50 more expensive) versus patients treated at high-volume hospitals (greater than/or equal to 18 procedures/year). CONCLUSION: Our investigation validates the hypothesis that lower volume standards (surgeon/hospital) are associated with increase of LOS following surgery to treat OSA, as well as lower surgeon volume associated with increase of mortality and hospitalization charges and lower hospital volume with occurrence of oxygen desaturation as postoperative complication.

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The aim of this study is to investigate psychosocial factors related to the diagnosis and treatment of patients with restless legs syndrome. Fifteen patients were interviewed at the Neuro-Sono Outpatient Clinic, Universidade Federal de São Paulo. The results were submitted to a qualitative analysis. We identified four content categories: illness description, illness history, illness experience, and relationships. Lack of control over the body and lack of recognition by professionals produce stigma and lead patients to suffering. The research underscores the relevance of psychosocial factors to the diagnosis and treatment of patients with restless legs syndrome and the importance of having interdisciplinary teams when attending patients with restless legs syndrome.

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OBJECTIVE: Hyperechogenicity of the substantia nigra is a frequent observation on transcranial sonography in Parkinson's disease and Machado-Joseph disease patients. Additionally, restless legs syndrome is a sleep disorder that is also frequently found in both diseases. Autopsy studies have demonstrated increased SN iron content in hyperechogenic substantia nigra. Iron storage is also known to be involved in restless legs syndrome. We formally compared echogenicity of the substantia nigra with restless legs syndrome in Parkinson's disease and Machado-Joseph disease patients. METHODS: Transcranial brain sonography was performed in a sample of Parkinson's disease and Machado-Joseph disease patients, and findings then correlated with the presence and severity of restless legs syndrome. RESULTS: There was a continuum of substantia nigra echogenicity among groups (Parkinson's disease versus Machado-Joseph disease versus controls) and sub-groups (Parkinson's disease with and without restless legs syndrome versus Machado-Joseph disease with and without restless legs syndrome) as well as a statistically significant negative correlation between restless legs syndrome severity and substantia nigra echogenicity (p<0.001). CONCLUSIONS: These preliminary observations demonstrate that the severity of RLS may be influenced by nigral iron load reflected by substantia nigra echogenicity in different neurodegenerative movement disorders.

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BACKGROUND: Prominent lower front teeth may be associated with a large or prognathic lower jaw (mandible) or a small or retrusive upper jaw (maxilla). Edward Angle, who may be considered the father of modern orthodontics, classified the malocclusion in this situation as Class III. The individual is described as having a negative or reverse overjet as the lower front teeth are more prominent than the upper front teeth. OBJECTIVES: The purpose of this systematic review was to evaluate different treatments of Angle Class III malocclusion in adults. SEARCH METHODS: The following databases were searched: Cochrane Oral Health Group Trials Register (to 22 March 2012); CENTRAL (The Cochrane Library 2012, Issue 1); MEDLINE via OVID (1950 to 22 March 2012); EMBASE via OVID (1980 to 22 March 2012); LILACs (1982 to 22 March 2012); BBO (1986 to 22 March 2012); and SciELO (1997 to 22 March 2012). SELECTION CRITERIA: All randomized or quasi-randomized controlled trials of treatments for adults with an Angle Class III malocclusion were included. DATA COLLECTION AND ANALYSIS: Three review authors independently assessed the eligibility of the identified reports. Two review authors independently extracted data and assessed the risk of bias in the included studies. The mean differences with 95% confidence intervals were calculated for continuous data. MAIN RESULTS: Two randomized controlled trials were included in this review. There are different types of surgery for this type of malocclusion but only trials of mandible reduction surgery were identified. One trial compared intraoral vertical ramus osteotomy (IVRO) with sagittal split ramus osteotomy (SSRO) and the other trial compared vertical ramus osteotomy (VRO) with and without osteosynthesis. Neither trial found any difference between the two treatments. The trials did not provide adequate data for assessing effectiveness of the techniques described. AUTHORS' CONCLUSIONS: There is insufficient evidence from the two included trials, to conclude that one procedure is better or worse than another. The included trials compared different interventions and were at high risk of bias and therefore no implications for practice can be given. Further high quality randomized controlled trials with long term follow-up are required.

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BACKGROUND: Few studies have described the occurrence of restless legs syndrome in post-polio syndrome. METHODS: We studied 10 consecutive patients with post-polio syndrome and symptoms of restless legs syndrome. We look at demographic, clinical and laboratorial data. RESULTS: A remarkable finding was the concomitant onset of symptoms of both diseases, suggesting a possible underlying mechanism. Severity of restless legs symptoms was moderate to very severe. CONCLUSION: Epidemiological studies with larger samples are needed to better establish the relationship and the incidence of restless legs syndrome in post-polio syndrome.

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INTRODUCTION: The Sleep Disturbance Scale for Children (SDSC) is a 26-item instrument for evaluating sleep among children aged 3-18 years. It differentiates among conditions such as disorders of initiating and maintaining sleep, sleep breathing disorders, disorders of arousal, sleep-wake transition disorders, excessive somnolence, and sleep hyperhydrosis. The aim of this study was to translate, culturally adapt, and validate it for Brazilian Portuguese. METHOD: The study was carried out in two phases: (1) forward translation, back translation, pretesting, and calculation of sample size; (2) validation: reliability (Chronbach's alpha), convergent analysis (Pearson correlation), and discriminatory validity (comparing the scores of the test with the results of polysomnography). One hundred children, aged 3-18 years, accompanied by their parents and/or guardians participated in the phases. PSG studies have been done to calculate the sample size and validation. RESULTS: The scale instructions and items were adapted regarding semantic, experiential, conceptual, and cultural equivalence validation. The scale structure related to visual communication was also adapted to Brazilian population preference and habits, and this resulted in a chart with clear instructions and easy recognition of the statements and possible responses. Reliability analysis showed values greater than 0.55. There has been reasonable convergent validity. Discriminatory validity using the PSG study for positive sleep-disordered breathing (SDB) was 8.9, attesting discriminatory validity only for SDB. The three questions of the scale can screen SDB. CONCLUSION: The SDSC was translated, adapted and validated for Brazilian Portuguese, and it presented internal consistency and convergent and discriminatory validity. It can be used in population-based studies in order to screen for sleep-disordered breathing in children.

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BACKGROUND: Restless legs syndrome (RLS) is a chronic sensory-motor disorder characterized by unpleasant limb sensations and an irresistible urge to move. The International Restless Legs Syndrome Study Group developed the Restless Legs Syndrome Rating Scale (IRLS) to assess the severity of RLS symptoms. The objective of this study was to translate and validate the IRLS into Brazilian Portuguese. METHOD: The IRLS was translated into Brazilian Portuguese, analyzed, back translated to English, and compared to the original version. It was applied to 10 patients for cultural verification. The language was adjusted and the final version was administered to 30 patients (13 male, mean age 58.88+/-14.82). RESULTS: There was correlation among the IRLS evaluation of three experts. Many linguistic adaptations were required to achieve cultural adequacy and the Cronbach's alpha coefficient showed reliability of 80%. CONCLUSION: IRLS was translated, adapted, and validated to Brazilian Portuguese language, showing good reliability and validity.

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STUDY DESIGN: Cross-sectional and nonexperimental. OBJECTIVE: To detect and compare functional abnormalities in the esophagus and esophagogastric junction in 2 groups with chronic spinal injuries, 1 with injuries at the phrenic innervation level and the other at upper thoracic levels, and to relate these to gastroesophageal reflux containment. SUMMARY OF BACKGROUND DATA: There are no studies on esophageal manometry with pH metering among spinal cord injury patients. Worldwide statistics reveal that the prevalence of gastroesophageal reflux disease among spinal cord injury patients is greater than among the general population, at around 22% to 27%. The "diaphragmatic crura" has been recognized as an important antireflux barrier and should functionally be considered to be a muscle separated from the costal diaphragm. However, doubts remain regarding whether this difference relates to its innervation. METHODS: This was a cross-sectional study on 29 patients with complete spinal cord injuries: 14 quadriplegics (level C4) and 15 paraplegics (levels T1-T7). Functional abnormalities of the esophagogastric junction, esophagus, and diaphragm were investigated using esophageal manometry and diaphragmatic video fluoroscopy. Presence of gastroesophageal reflux was investigated subjectively (pyrosis and regurgitation) and objectively (pH metering and endoscopy). RESULTS: The incidence of gastroesophageal reflux disease was 27.6%, without difference between the groups. This became statistically significant when the mean diaphragmatic crural pressures were compared (quadriplegics: 37.5 +/- 17.8; paraplegics: 26.6 +/- 7.2; P = 0.048). It was also significant in relation to the prevalence of at least one of the objective and/or subjective reflux findings and/or esophageal peristaltism (quadriplegics: 85.7%; paraplegics: 40.0%; P = 0.011). CONCLUSION: Spinal injury at the level of the phrenic innervation did not predispose the quadriplegics toward greater risk of developing gastroesophageal reflux disease. Paradoxically, manometry showed significantly greater crural contractility among the quadriplegics.

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BACKGROUND: Restless legs syndrome (RLS) is a chronic sensory-motor disorder characterized by unpleasant limb sensations and an irresistible urge to move. The International Restless Legs Syndrome Study Group developed the Restless Legs Syndrome Rating Scale (IRLS) to assess the severity of RLS symptoms. The objective of this study was to translate and validate the IRLS into Brazilian Portuguese. METHOD: The IRLS was translated into Brazilian Portuguese, analyzed, back translated to English, and compared to the original version. It was applied to 10 patients for cultural verification. The language was adjusted and the final version was administered to 30 patients (13 male, mean age 58.88±14.82). RESULTS: There was correlation among the IRLS evaluation of three experts. Many linguistic adaptations were required to achieve cultural adequacy and the Cronbach's alpha coefficient showed reliability of 80 percent. CONCLUSION: IRLS was translated, adapted, and validated to Brazilian Portuguese language, showing good reliability and validity.

INTRODUÇÃO: A síndrome das pernas inquietas (SPI) é uma doença crônica, sensório-motora, caracterizada por sensações desagradáveis nos membros e uma urgência em movimentá-los. O Grupo Internacional de Estudos da Síndrome das Pernas Inquietas desenvolveu a Escala de Graduação da Síndrome das Pernas Inquietas (EGSPI) para avaliar a gravidade dos sintomas da SPI. OBJETIVO: Traduzir, adaptar culturalmente e validar a EGSPI para o português do Brasil. MÉTODO: A escala foi vertida para o português, analisada, vertida novamente para o inglês e comparada com a versão original. Foi aplicada em 10 pacientes para adequação cultural. A linguagem foi ajustada e a versão final foi aplicada em 30 pacientes (13 homens, idade média de 58,88±14,82). RESULTADOS: Houve correlação da aplicação da escala entre três avaliadores. Foram necessárias adaptações lingüísticas para adequação cultural e o alfa de Chronbach mostrou confiabilidade de 80 por cento. CONCLUSÃO: A EGSPI foi traduzida, adequada e validada para o português do Brasil, com boa validade e confiabilidade.

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Andersen syndrome (AS) is a rare disease characterized by the presence of periodic paralysis (PP), cardiac arrhythmia and dysmorphic abnormalities. We report herein the first Brazilian patient presenting AS who also had obesity, obstructive sleep apnea (OSA) and daytime sleepiness. Clinical and genetic evaluation of six family members demonstrated that four had dysmorphic abnormalities but none had PP or cardiac arrhythmia. Sequencing of KCNJ2 revealed the R218W mutation in the index patient and her 6-year-old daughter, who presented dysmorphic abnormalities (micrognathia, clinodactyly of fourth and fifth fingers, short stature) and OSA. Three relatives had clinodactyly as the only manifestation but the R218W mutation was absent, suggesting that this characteristic may be influenced by another gene. OSA accompanied by dysmorphic features may be related to AS.

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Andersen syndrome (AS) is a rare disease characterized by the presence of periodic paralysis (PP), cardiac arrhythmia and dysmorphic abnormalities. We report herein the first Brazilian patient presenting AS who also had obesity, obstructive sleep apnea (OSA) and daytime sleepiness. Clinical and genetic evaluation of six family members demonstrated that four had dysmorphic abnormalities but none had PP or cardiac arrhythmia. Sequencing of KCNJ2 revealed the R218W mutation in the index patient and her 6-year-old daughter, who presented dysmorphic abnormalities (micrognathia, clinodactyly of fourth and fifth fingers, short stature) and OSA. Three relatives had clinodactyly as the only manifestation but the R218W mutation was absent, suggesting that this characteristic may be influenced by another gene. OSA accompanied by dysmorphic features may be related to AS.

A síndrome de Andersen (SA) é doença rara caracterizada pela presença de paralisia periódica (PP), arritmia cardíaca e anormalidades dismórficas. Relatamos o primeiro paciente brasileiro apresentando SA, e que também apresenta obesidade e apnéia obstrutiva do sono (AOS). Avaliações clínica e genética de seis familiares demonstraram que quatro apresentavam alterações dismórficas mas nenhum tinha PP ou arritmia cardíaca. O sequenciamento do gene KCNJ2 revelou a mutação R218W no paciente índex e sua filha de 6 anos, que apresentava alterações dismórficas (micrognatia, clinodactilia do quarto e quinto dedos, baixa estatura) e AOS. Três familiares tinham clinodactilia como única manifestação mas a mutação R218W estava ausente, sugerindo que esta característica seja influenciada por outro gene. A AOS associada a alterações dismórficas pode estar relacionada à SA.

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CONTEXT: Hemiparesia changes quality of life of patients with stroke making difficult a normal life. OBJECTIVE: To evaluate the effect of Functional Eletric Orthesis (FEO) applied over the paretic leg in the quality of life of stroke patients. METHOD: The quality of life of 50 stroke patients of Associacao de Assistencia a Crianca Deficiente (AACD) was evaluated with SF-36 questionnaire before and after the treatment with a FEO for rehabilitation of walking. We analyzed data according to gender and affected hemisphere. RESULTS: The average values from all domains of SF-36 improved significantly (p<0.001). Female patients improved more than male in Emotional Domain (p=0.04) and presented a trend to be better regarding Bodily Pain and Social Functioning. Patients with right hemiparesia improved more than those with left hemiparesia (p=0.02). CONCLUSION: FEO over a paretic leg is efficient to improve quality of life of stroke patients, mainly Physical Functioning.

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