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To compare transcranial sonography (TCS) findings in patients with predominantly neurological Wilson's disease (WD) to those from controls, and to correlate TCS data with the clinical profile of WD. Patients with WD (n=40/f=18) and healthy, matched controls (n=49/f=20) were assessed in terms of TCS, serum copper and iron parameters, and clinical scales, such as the Unified Wilson's Disease Rating Scale (UWDRS), Addenbrooke's Cognitive Examination-Revised (ACE-R), Mini Mental State Examination (MMSE), and Beck Depression Inventory. Lenticular nuclei and substantia nigra echogenic area cut-off values clearly differentiated WD patients from controls (area under the curve: 95.4% and 79.4%). Substantia nigra echogenic area was significantly larger in male than in female patients (p=0.001). Compared with controls, patients showed hyperechogenicity also in thalami and midbrain tegmentum/tectum; third ventricle width was increased and midbrain axial area was reduced. In the WD group, male gender correlated with substantia nigra echogenic area (r=0.515, p=0.0007) and serum ferritin levels (r=0.479, p=0.002); lenticular nuclei hyperechogenicity correlated with dystonia (r=0.326, p=0.04) and dysarthria (r=0.334, p=0.035); third ventricle width correlated with dystonia (r=0.439 p=0.005), dysarthria (r=0.449, p=0.004), parkinsonism (r=0.527, p

Sleep enuresis is one of the most common sleep disturbances in childhood. Parental perception of deeper sleep in children with sleep enuresis is not confirmed by objective studies. However, evidence of disturbed sleep has been demonstrated by questionnaire, actigraphy, and polysomnographic studies, but no neurophysiological correlation with low arousability has been found. The goal of this study was to analyze the sleep microstructure of children with sleep enuresis using cyclic alternating pattern (CAP) analysis.Forty-nine children were recruited, 27 with enuresis (19 males and 8 females, mean age 9.78 years, 2.52 standard deviation) and 22 normal control patients (11 males and 11 females, mean age 10.7 years, 3.43 standard deviation); all subjects underwent clinical evaluation followed by a full-night polysomnographic recording. Psychiatric, neurological, respiratory, and renal diseases were excluded.No differences in sex, age, and apnea-hypopnea index were noted in the patients with enuresis and the control patients. Sleep stage architecture in children with sleep enuresis showed a decrease in percentage of stage N3 sleep. CAP analysis showed an increase in CAP rate in stage N3 sleep and in phase A1 index during stage N3 sleep in the sleep enuresis group, but also a significant reduction of A2% and A3% and of phases A2 and A3 indexes, supporting the concept of decreased arousability in patients with sleep enuresis. The decrease of phase A2 and A3 indexes in our patients might reflect the impaired arousal threshold of children with sleep enuresis. Sleep fragmentation might result in a compensatory increase of slow wave activity (indicated by the increase of CAP rate in stage N3 sleep) and may explain the higher arousal threshold (indicated by a decrease of phase A2 and A3 indexes) linked to an increased sleep pressure.The findings of this study indicate the presence of a significant disruption of sleep microstructure (CAP) in children with sleep enuresis, supporting the hypothesis of a higher arousal threshold.

Children suffering from neuromuscular diseases are at an increased risk of sleep-related breathing disorders (SRBD) such as obstructive sleep apnea syndrome (OSAS) and hypoventilation as well as central sleep apnea, which is frequent in these patients due to diaphragmatic weakness. They are at higher risk for developing complications of nocturnal hypoxemia, including pulmonary hypertension, cor pulmonale and neurocognitive dysfunction. Neuromuscular disorders and OSAS are both prevalent disorders and frequently overlap. Sleep-related hypoventilation/hypoxemia due to neuromuscular diseases may be exacerbated in the presence of OSAS; these children are likely to experience greater severity and duration of sleep-related hypoxemia than are children with either disorder alone. Additionally, some of these children have reduced central neural chemoresponsiveness. The development of SRBD in these patients further impairs their quality of life and worsens their respiratory status. We review the literature on the diagnosis and treatment of SRBD in children with a variety of neuromuscular disorders.

A novel syndrome characterized by a distinctive sleep disorder accompanied by variable symptoms of brainstem involvement and a highly restricted haplotype was recently described in association with antibodies to a neuronal cell adhesion protein named IgLON5. Because of the symptoms and chronic disease progression, most of these patients are primarily seen by specialists in sleep and neurodegenerative disorders. Since the initial description of this encephalopathy in 2014, only 1 additional patient has been reported.1 In order to improve clinical recognition we report a new patient who presented with the characteristic sleep dysfunction and subsequently developed chorea. Acknowledgment: The authors thank Dr. Leandro Tavares Lucato (Radiology Institute, Hospital das Clinicas, Sao Paulo University) for reviewing neuroradiologic images and Dr. Maira Okada de Oliveira (Behavioral and Cognitive Neurology Unit, Hospital das Clinicas, Sao Paulo University) for the neuropsychological testing data.

O Consenso em síndrome das pernas inquietas contou com a participação de neurologistas de vários estados brasileiros, os quais incansavelmente revisaram a literatura dos últimos anos em busca de evidências, tanto no que se refere ao diagnóstico como ao tratamento, de acordo com a Classificação do Centro de Oxford para Medicina Baseada em Evidências. The Consensus on restless legs syndrome is an effort of neurologists from several Brazilian states, which tirelessly reviewed the literature of recent years in search of evidence, both in regard to diagnosis and treatment, according to the Oxford Centre for Evidence-based Medicine.

Sao Paulo Research Foundation (FAPESP) [2014/26818-2, 2014/50457-0, 2016/04538-3, 2014/06457-5, 2015/22227-2, 2016/22007-5] National Council for Scientific and Technological Development (CNPq) [480428/2013-4, 470785/2014-4, 404239/2016-1] CAPES [3263/2013] Janos Bolyai Scholarship of the Hungarian Academy of Sciences PURPOSE: Smith-Magenis syndrome (SMS) causes sleep disturbance that is related to an abnormal melatonin profile. It is not clear how the genomic disorder leads to a disturbed synchronization of the sleep/wake rhythm in SMS patients. To evaluate the integrity of the intrinsically photosensitive retinal ganglion cell (ipRGC)/melanopsin system, the transducers of the light-inhibitory effect on pineal melatonin synthesis, we recorded pupillary light responses (PLR) in SMS patients. METHODS: Subjects were SMS patients (n = 5), with molecular diagnosis and melatonin levels measured for 24 hours and healthy controls (n = 4). Visual stimuli were 1-second red light flashes (640 nm insignificant direct ipRGC activation), followed by a 470-nm blue light, near the melanopsin peak absorption region (direct ipRGC activation). Blue flashes produce a sustained pupillary constriction (ipRGC driven) followed by baseline return, while red flashes produce faster recovery. RESULTS: Pupillary light responses to 640-nm red flash were normal in SMS patients. In response to 470-nm blue flash, SMS patients had altered sustained responses shown by faster recovery to baseline. SMS patients showed impairment in the expected melatonin production suppression during the day, confirming previous reports. CONCLUSIONS: SMS patients show dysfunction in the sustained component of the PLR to blue light. It could explain their well-known abnormal melatonin profile and elevated circulating melatonin levels during the day. Synchronization of daily melatonin profile and its photoinhibition are dependent on the activation of melanopsin. This retinal dysfunction might be related to a deficit in melanopsin-based photoreception, but a deficit in rod function is also possible. Univ Sao Paulo, Dept Expt Psychol, Inst Psychol, Sao Paulo, Brazil Semmelweis Univ, Dept Ophthalmol, Budapest, Hungary Univ Sao Paulo, Dept Neurol, Fac Med, Sao Paulo, Brazil Budapest Univ Technol & Econ, Dept Mechatron Opt & Engn Informat, Budapest, Hungary Univ Texas San Antonio, Dept Cellular & Struct Biol, San Antonio, TX USA Univ Fed Sao Paulo, Dept Physiol, Sao Paulo, Brazil Univ Sao Paulo, Dept Physiol & Biophys, Inst Biomed Sci, Av Lineu Prestes 1524, BR-05508000 Sao Paulo, SP, Brazil Univ Fed Sao Paulo, Dept Physiol, Sao Paulo, Brazil FAPESP [2014/26818-2, 2014/50457-0, 2016/04538-3, 2014/06457-5, 2015/22227-2, 2016/22007-5] CNPq [480428/2013-4, 470785/2014-4, 404239/2016-1] CAPES [3263/2013] Web of Science

BACKGROUND: The last 20 years witnessed increased medical awareness regarding restless legs syndrome (Willis-Ekbom disease) among adults and children. However, it remains underdiagnosed and undertreated. Diagnosis relies exclusively on the history described by patients in their own words. Children who cannot adequately describe their symptoms represent a difficulty. To circumvent this, probable and possible restless legs syndrome have been instituted as diagnostic alternatives. OBJECTIVE: This review aims to emphasize to general Pediatricians that among children restless legs syndrome is not only common, but also has the potential to impair the quality of life of affected patients and their caregivers. METHODS: We performed a search in the database of Medline-PubMed for articles dated from January 1, 2008 to December 31, 2013. Many relevant articles before 2008 were also studied. Key words used were: restless legs syndrome and/or restless legs syndrome children. The Google Scholar database and pages in Portuguese were also investigated. We also searched for the theme in various relevant textbooks. We have added our personal experience to published literature. CONCLUSION: We observed that restless legs syndrome is common in children, and its diagnosis requires knowledge and intuition on the part of the Pediatrician. RESUMO TEMA: Os últimos 20 anos testemunharam maior conscientização médica sobre síndrome das pernas inquietas (doença de Willis-Ekbom) entre adultos e crianças. No entanto, permanece uma entidade mórbida subdiagnosticada e subtratada. O diagnóstico baseia-se exclusivamente sobre a história descrita pelos pacientes em suas próprias palavras. Crianças que nao podem descrever adequadamente seus sintomas representam uma dificuldade. Para contornar isso, instituíram-se, como alternativas diagnósticas, síndrome das pernas inquietas provável e possível. OBJETIVO: Esta revisão tem como objetivo enfatizar a pediatras gerais o conceito de que, entre as crianças, síndrome das pernas inquietas não é apenas comum, mas também tem o potencial de prejudicar a qualidade de vida dos pacientes afetados e de seus cuidadores. MÉTODO: Foi realizada na base de dados do Medline-PubMed uma busca de artigos datados a partir de 1 de Janeiro de 2008 até 31 de dezembro de 2013. Artigos relevantes anteriores a 2008 também foram levantados. Palavras-chave utilizadas foram: "restless legs syndrome and/or restless legs syndrome children". O banco de dados e páginas em Português Google Scholar também foram investigados. Procuramos o tema também em vários livros de texto relevantes. Adicionamos nossa experiência pessoal à literatura publicada. CONCLUSÃO: Observou-se que a síndrome das pernas inquietas e comum em crianças. e seu diagnóstico requer conhecimento e intuição por parte do pediatra.

OBJECTIVE: Certain drug classes alleviate the symptoms of Willis-Ekbom's disease, whereas others aggravate them. The pharmacological profiles of these drugs suggest that drugs that alleviate Willis-Ekbom's disease inhibit thyroid hormone activity, whereas drugs that aggravate Willis-Ekbom's disease increase thyroid hormone activity. These different effects may be secondary to the opposing actions that drugs have on the CYP4503A4 enzyme isoform. Drugs that worsen the symptoms of the Willis-Ekbom's disease inhibit the CYP4503A4 isoform, and drugs that ameliorate the symptoms induce CYP4503A4. The aim of this study is to determine whether Saint John's wort, as an inducer of the CYP4503A4 isoform, diminishes the severity of Willis-Ekbom's disease symptoms by increasing the metabolism of thyroid hormone in treated patients. METHODS: In an open-label pilot trial, we treated 21 Willis-Ekbom's disease patients with a concentrated extract of Saint John's wort at a daily dose of 300 mg over the course of three months. RESULTS: Saint John's wort reduced the severity of Willis-Ekbom's disease symptoms in 17 of the 21 patients. CONCLUSION: Results of this trial suggest that Saint John's wort may benefit some Willis-Ekbom's disease patients. However, as this trial was not placebo-controlled, the extent to which Saint John's wort is effective as a Willis-Ekbom's disease treatment will depend on future, blinded placebo-controlled studies.

Este artigo relata as conclusões da reunião de consenso com médicos especialistas sobre diagnóstico de narcolepsia baseada na revisão dos artigos sobre narcolepsia listados no Medline entre 1980 e 2010. A narcolepsia é uma doença crônica de início entre a primeira e segunda décadas de vida do indivíduo. Os sintomas essenciais são cataplexia e sonolência excessiva. A cataplexia é definida como episódios súbitos, recorrentes e reversíveis de fraqueza da musculatura esquelética desencadeados por situações de conteúdo emocional. Os sintomas acessórios são alucinações hipnagógicas, paralisia do sono e sono fragmentado. Critérios de diagnóstico clínico de acordo com a Classificação Internacional dos Transtornos do Sono são de sonolência excessiva e cataplexia. Recomenda-se a realização de polissonografia seguida do teste de latência múltipla do sono em um laboratório de sono para confirmação e diagnóstico de comorbidades. Quando não houver cataplexia, deve haver duas ou mais sonecas com sono REM no teste de latência múltipla do sono. Tipagem HLA-DQB1*0602 positiva com níveis de hipocretina-1 abaixo de 110pg/mL devem estar presentes para o diagnóstico de narcolepsia sem cataplexia e sem sonecas com sono REM. 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.

The Brazilian Sleep Association brought together specialists in sleep medicine, in order to develop new guidelines on the diagnosis and treatment of insomnias. The following subjects were discussed: concepts, clinical and psychosocial evaluations, recommendations for polysomnography, pharmacological treatment, behavioral and cognitive therapy, comorbidities and insomnia in children. Four levels of evidence were envisaged: standard, recommended, optional and not recommended. For diagnosing of insomnia, psychosocial and polysomnographic investigation were recommended. For non-pharmacological treatment, cognitive behavioral treatment was considered to be standard, while for pharmacological treatment, zolpidem was indicated as the standard drug because of its hypnotic profile, while zopiclone, trazodone and doxepin were recommended. ____________________________________________________________________________________________________________ ABSTRACT A Associação Brasileira de Sono reuniu especialistas em medicina do sono com o objetivo de desenvolver novas diretrizes no diagnóstico e tratamento das insônias. Nós consideramos quatro níveis de evidência: padrão, recomendado, opcional e não recomendado. Os tópicos abordados foram: conceito, avaliação clínica e psicossocial, indicação da polissonografia, tratamento farmacológico, terapia comportamental cognitiva, comorbidades e insônia na infância. Para o diagnóstico da insônia, foi recomendada uma avaliação psicossocial e a realização da polissonografia, enquanto que no que se refere ao tratamento, foi estabelecido como padrão a indicação da terapia comportamental cognitiva, e, quanto ao tratamento farmacológico, foi indicado o uso do zolpidem como hipnótico padrão, e sendo recomendado o zopiclone, a trazodona e a doxepina.

Este artigo relata as conclusões da reunião de consenso com médicos especialistas sobre diagnóstico de narcolepsia baseada na revisão dos artigos sobre narcolepsia listados no Medline entre 1980 e 2010. A narcolepsia é uma doença crônica de início entre a primeira e segunda décadas de vida do indivíduo. Os sintomas essenciais são cataplexia e sonolência excessiva. A cataplexia é definida como episódios súbitos, recorrentes e reversíveis de fraqueza da musculatura esquelética desencadeados por situações de conteúdo emocional. Os sintomas acessórios são alucinações hipnagógicas, paralisia do sono e sono fragmentado. Critérios de diagnóstico clínico de acordo com a Classificação Internacional dos Transtornos do Sono são de sonolência excessiva e cataplexia. Recomenda-se a realização de polissonografia seguida do teste de latência múltipla do sono em um laboratório de sono para confirmação e diagnóstico de comorbidades. Quando não houver cataplexia, deve haver duas ou mais sonecas com sono REM no teste de latência múltipla do sono. Tipagem HLA-DQB1*0602 positiva com níveis de hipocretina-1 abaixo de 110pg/mL devem estar presentes para o diagnóstico de narcolepsia sem cataplexia e sem sonecas com sono REM. 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.

OBJECTIVES: To investigate hypoxia and sleep disordered breathing in infants with congenital heart disease. METHODS: Prospective study. In-hospital full polysomnography was performed on 14 infants with congenital heart disease, age 7 ±1 months, and in 7 normal infants, age 10 ±2 months. Congenital heart disease infants were classified as acyanotic (n=7) or cyanotic (n=7). RESULTS: Nutritional status, assessed by the Gomez classification and expressed as % weight for age, was 70 ±7, 59 ±11 and 94 ±16 in the acyanotic, cyanotic congenital heart disease and control infants, respectively (p1 event/hour. The minimum oxygen saturation was 79% (74-82), 73% (57-74) and 90% (90-91) in the acyanotic, cyanotic congenital heart disease infants and controls, respectively (p

The aim of this study was to evaluate (1) the prevalence of periodic leg movements during sleep (PLMs) in a consecutive sample of congestive heart failure (CHF) outpatients; (2) the presence of correlation between PLMs, subjective daytime sleepiness, and sleep architecture; and (3) the heart rate response to PLMs in CHF.Seventy-nine [50 men, age 59 +/- 11 years, body mass index (BMI) 26 +/- 5 kg/m(2)] consecutive adult stable outpatients with CHF [left ventricular ejection fraction (LVEF) 36 +/- 6%] were prospectively evaluated. The patients underwent assessment of echocardiography, sleepiness (Epworth Scale), and overnight in-lab polysomnography.Fifteen patients (19%) had PLM index5. These subjects were similar in sex distribution, BMI, subjective somnolence, LVEF, and apnea-hypopnea index (AHI), but were significantly older than subjects without PLMs. Sleep architecture was similar in subjects with and without PLMs. There was a small but significant elevation of heart rate after PLMs (80.1 +/- 9.4 vs. 81.5 +/- 9.2; p0.001). The cardiac acceleration was also present in absence of electroencephalogram activation.The prevalence of PLMs in consecutive sample of adult CHF outpatients was 19%. There were no differences in subjective daytime sleepiness, sleep architecture, AHI, and severity of CHF in subjects with and without PLMs. PLMs caused a small but statistically significant cardiac acceleration.

This review attempts to assemble the characteristics of a distinct variant of sleepwalking called sexsomnia/sleepsex from the seemingly scarce literature into a coherent theoretical framework. Common features of sexsomnia include sexual arousal with autonomic activation (e.g. nocturnal erection, vaginal lubrication, nocturnal emission, dream orgasms). Somnambulistic sexual behavior and its clinical implications, the role of precipitating factors, diagnostic, treatment, and medico-legal issues are also reviewed. The characteristics of several individuals described in literature including their family/personal history of parasomnia as well as the abnormal behaviors occurring during sleep are reported.

Introduction Different classes of drugs alleviate symptoms of RLS/Willis Ekbom’s disease (WED), whereas others may aggravate them: drugs that worsen symptoms usually inhibit the CYP4503A4 isoform, and drugs that ameliorate them induce CYP4503A4. The main objective of this study was to verify whether Saint John’s wort (SJW), as an inducer of the CYP4503A4 isoform, would reduce the severity of RLS symptoms. Materials and methods Over the course of three months, in an open-label pilot trial, we treated 21 patients (12–76 years; median 48 years), with clinical criteria for RLS with a concentrated extract of Saint John’s wort at a daily dose of 300mg. Hb, Ht, TSH and T4 levels were normal in all patients; eight patients had ferritin levels under 45ig/L (after the end of the trial they also received iron therapy). No side effects with SJW were reported. Results Saint John’s wort reduced the severity of symptoms of WED in 17 of the 21 patients. Their median WED severity score, according to the International Restless Legs Syndrome Study Group (IRLSSG), ranged from 17 to 36 (median 24). After the initial ten-day treatment, 17 patients (81%) reported experiencing >70% improvement of their WED symptoms and also reported better sleep during treatment compared to before treatment. Four patients reported no improvement during the ten-day trial, all of whom were drug-naive (median WED severity score of 24). All patients whose symptoms were alleviated by the ten-day SJW trial agreed to take the drug for three more additional months. Following cessation of the drug, they reported that they remained free of WED symptoms for 2–7 days (median 3). After completing the three- month trial, all 17 patients reported a desire to continuously take SJW as a WED treatment. At the beginning of the trial, these 17 patients scored a median of 24 ( ± 5.1 ) points in the IRLSSG rating severity scale, and after the three-month treatment, the score was 4.1 ( ± 1 ) (p Conclusion Results of this trial suggest that Saint John’s wort may be useful for some RLS patients. Thus, the extent to which Saint John’s wort is effective as a WED treatment will depend on future blind placebo-controlled studies. Acknowledgements Jundiai Medical School.