REM sleep behavior disorder: update on diagnosis and management.

REM sleep behavior disorder (RBD) is characterized by a loss of atonia of skeletal muscles during REM sleep, associated with acting out behaviors during dreams. Knowledge of this pathology is important to predict neurodegenerative diseases since there is a strong association of RBD with diseases caused by the deposition of alpha-synuclein in neurons (synucleinopathies), such as Parkinson's disease (PD), multiple system atrophy (MSA), and dementia with Lewy bodies (DLB). Proper diagnosis of this condition will enable the use of future neuroprotective strategies before motor and cognitive symptoms. Diagnostic assessment should begin with a detailed clinical history with the patient and bed partner or roommate and the examination of any recorded home videos. Polysomnography (PSG) is necessary to verify the loss of sleep atonia and, when documented, the behaviors during sleep. Technical recommendations for PSG acquisition and analysis are defined in the AASM Manual for the scoring of sleep and associated events, and the PSG report should describe the percentage of REM sleep epochs that meet the criteria for RWA (REM without atonia) to better distinguish patients with and without RBD. Additionally, PSG helps rule out conditions that may mimic RBD, such as obstructive sleep apnea, non-REM sleep parasomnias, nocturnal epileptic seizures, periodic limb movements, and psychiatric disorders. Treatment of RBD involves guidance on protecting the environment and avoiding injuries to the patient and bed partner/roommate. Use of medications are also reviewed in the article. The development of neuroprotective medications will be crucial for future RBD therapy.

O transtorno comportamental do sono REM (TCSREM) é caracterizado por uma perda de atonia dos músculos esqueléticos durante o sono REM, associada a comportamentos de atuação durante os sonhos. O conhecimento desse transtorno é importante como preditor de doenças neurodegenerativas, uma vez que existe uma forte associação de TCSREM com doenças causadas pela deposição de alfa-sinucleína nos neurônios, como a doença de Parkinson (DP), atrofia de múltiplos sistemas (MSA) e demência com corpos de Lewy (DLB). O diagnóstico adequado dessa condição permitirá o uso de futuras estratégias neuroprotetoras antes do aparecimento dos sintomas motores e cognitivos. A avaliação diagnóstica deve começar com uma história clínica detalhada com o paciente e acompanhante, além de exame de vídeos. A polissonografia (PSG) é necessária para verificar a perda da atonia do sono e, quando documentados, os comportamentos durante o sono. As recomendações técnicas para aquisição e análise de PSG são definidas no Manual da AASM (Scoring of sleep and associated events) e o relatório de PSG deve descrever a porcentagem de períodos de sono REM que atendem aos critérios para REM sem atonia. Além disso, a PSG ajuda a descartar condições que podem mimetizar o TCSREM, como apneia obstrutiva do sono, parassonias do sono não REM, crises epilépticas noturnas, movimentos periódicos dos membros e transtornos psiquiátricos. O tratamento do TCSREM envolve orientações sobre adaptações do ambiente para evitar lesões ao paciente e ao colega de quarto. Medicamentos utilizados são revistos no artigo, assim como o crucial desenvolvimento de medicamentos neuroprotetores.

Analysis of REM sleep without atonia in 22q11.2 deletion syndrome determined by domiciliary polysomnography: a cross sectional study.

STUDY OBJECTIVES: Our aim is to evaluate the presence of REM sleep without atonia (RWA), the objective hallmark of REM sleep Behaviour Disorder (RBD), as prodromal marker of Parkinson's disease (PD), in an adult cohort of 22q11.2 deletion syndrome (22qDS). METHODS: Sleep quality was assessed by means of Pittsburgh quality scale index (PSQI), and RBD symptoms by means of RBD questionnaire-Hong-Kong (RBDQ-HK). Attended domiciliary video-Polysomnography (v-PSG) were performed in 26 adults (18-51 years, 14 females) 22qDS patients. Electromyogram during REM sleep was analyzed by means of SINBAR procedure at 3-second time resolution (miniepochs). RESULTS: An overall poor sleep quality was observed in the cohort and high RBDQ-HK score in 7 of the 26 patients, two additional patients with positive dream enactment reported by close relatives had low score of RBDQ-HK. Nevertheless, SINBAR RWA scores were lower than cut-off threshold for RWA (mean 5.5%, range 0-12.2%). TST and the percentage of light sleep (N1) were increased, with preserved proportions of N2 and N3. Participants reported poor quality of sleep (mean PSQI > 5), with prolonged sleep latency in the v-PSG. No subjects exhibit evident dream enactment episodes during recording sessions. CONCLUSIONS: RWA was absent in the studied cohort of 22qDS adult volunteers according to validated polysomnographic criteria. High RBDQ-HK scores do not correlate with v-PSG results among 22qDS individuals.

Parasomnias in patients with addictions-a systematic review.

Parasomnias are involuntary behaviors or subjective experiences during sleep. Our objective was to review existing information on the presence of parasomnias in patients with addictions or during treatment for addictions. Information about parasomnias related to rapid-eye-movement (REM) and non-REM sleep in patients with addictions, while using substances or in abstinence, was reviewed. A systematic search of published articles reporting parasomnias as a consequence of drug use or abuse was conducted in the PubMed and SciELO databases. The search for the studies was performed in three phases: (1) by title, (2) by abstract, and (3) by complete text. The search was performed independently by two researchers, who then compared their results from each screening phase. Seventeen articles were found. The consumption of alcohol was reported in association with arousal disorders, such as sexsomnia and sleep-related eating disorder; and REM sleep behavior disorder was reported during alcohol withdrawal. Cocaine abuse was associated with REM sleep behavior disorder with drug consumption dream content. Overall, we found that several types of parasomnias were very frequent in patients with addictions. To avoid accidents in bedroom, legal problems, and improve evolution and prognosis; must be mandatory to include security measures related to sleep period; avoid pharmacological therapy described as potential trigger factor; improve sleep hygiene; and give pharmacological and behavioral treatments for patients with these comorbid sleep disorders.

Evaluation of the frequency of non-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1.

BACKGROUND: Gaucher disease (GD) is caused by deficiency of beta-glucocerebrosidase (GCase) due to biallelic variations in the GBA1 gene. Parkinson's disease (PD) is the second most common neurodegenerative condition. The classic motor symptoms of PD may be preceded by many non-motor symptoms (NMS), which include hyposmia, rapid eye movement (REM) sleep behavior disorder, constipation, cognitive impairment, and depression. Population studies have identified mutations in GBA1 as the main risk factor for idiopathic PD. The present study sought to evaluate the prevalence of NMS in a cohort of patients with GD type 1 from Southern Brazil. METHODOLOGY: This is an observational, cross-sectional study, with a convenience sampling strategy. Cognition was evaluated by the Montreal Cognitive assessment (MoCa), daytime sleepiness by the Epworth Scale, depression by the Beck Inventory, constipation by the Unified Multiple System Atrophy Rating Scale, and REM sleep behavior disorder by the Single-Question Screen; hyposmia by the Sniffin' Sticks. Motor symptoms were assessed with part III of the Unified Parkinson's Disease Rating Scale. All patients were also genotyped for the GBA1 3'-UTR SNP (rs708606). RESULTS: Twenty-three patients (female = 13; on enzyme replacement therapy = 21, substrate reduction therapy = 2) with a mean age of 41.45 ± 15.3 years (range, 22-67) were included. Eight patients were found to be heterozygous for the 3'-UTR SNP (rs708606). Fourteen patients (8 over age 40 years) presented at least one NMS; daytime sleepiness was the most frequent (n = 10). Two patients (aged 63 and 64, respectively) also presented motor symptoms, probably drug-related. CONCLUSIONS: NMS were prevalent in this cohort. We highlight the importance of a multidisciplinary follow-up focusing on earlier diagnosis of PD, especially for patients with GD type 1 over the age of 40.

Sleep disorders in NiemannPick disease type C, beyond cataplexy.

PURPOSE: The aim of this study was to clinically characterize sleep disorders in a cohort of Niemann-Pick type C (NPC) patients, correlating these findings with disease features and polysomnographic (PSG) results. METHODS: We evaluated eight consecutive patients with molecular confirmation of NPC followed at the Hospital Geral de Fortaleza. Patients underwent a comprehensive neurological and sleep evaluation. Four participants underwent polysomnography and then performed the multiple sleep latency test. RESULTS: All eight patients evaluated had sleep disorders. Four participants performed polysomnography followed by multiple sleep latency test. Chronic insomnia and Obstructive Sleep Apnea (OSA) were the most frequent sleep disorders (62,5%). Two patients were diagnosed with Restless Legs Syndrome (RLS) (25%) and two with probable REM sleep behavior disorder (RBD) (25%). All the patients who did polysomnography had reduced and/or disorganized sleep, with reduction on sleep efficiency, total sleep time and REM sleep time. CONCLUSION: Our results suggest that sleep abnormalities in Niemann-Pick type C patients may be more prevalent than previously thought.

Transtornos do sono: atualização (parte2/2) / Sleep disorders: up to date (2/2)

Este artigo (2/2) compõe uma revisão sobre fundamentos do sono e transtornos do sono (TS), sendo aqui considerados: 1-Incapacidade de dormir na hora desejada-atraso de fase, avanço de fase, ''jet lag'', ritmo sono-vigília irregular, sono/vigília de livre curso, transtornos dos trabalhadores em turnos; 2-Movimentos ou comportamentos anormais durante o sono. Este segundo grupo é aqui subdividido em: A1-Parassonias relacionadas ao sono NREM (Non-rapid eye movement) ­ despertar confusional, sonambulismo, terror noturno, síndrome da cabeça explosiva, alucinações relacionadas ao sono, enurese noturna e parassonias causadas por doenças e medicações; A2-Parassonias relacionadas ao sono REM (rapid eye movement) - transtorno comportamental do sono REM, pesadelos, paralisias recorrentes isoladas do sono, promulgação sono ''dream enactment behavior"; B-Transtornos do movimento relacionados ao sono-bruxismo, síndrome das pernas inquietas, movimentos periódicos das pernas, câimbras do sono, movimentos rítmicos relacionados ao sono, mioclonias proprioespinhais do início do sono, movimentos relacionados à medicação, mioclonias em doenças sistêmicas e mioclonias benignas do sono em bebês.(AU)

This is the second part (2/2) of an article that intends to review major topics regarding sleep fundamentals and sleep disorders (SD), now considering: 1-Circadian rhythm disorders-delayed onset sleep phase disorder, advanced onset sleep phase disorder, jet lag, irregular sleep-wake rhythm, free-running type, shift work type; 2-Abnormal movements or behaviours during sleep. This second category is divided in two groups: A1-NREM (Non-rapid eye movement) parasomnias ­ confusional awakening, sleepwalking, night terrors, explosive head syndrome, sleep-related hallucinations, nocturnal enuresis and parasomnias related to diseases or medications; A2-REM (Rapid eye movement) parasomnias-REM sleep behaviour disorder, nightmares, recurrent isolated sleep paralysis, dream enactment behaviour; B-Sleep related movement disorders-bruxism, restless legs syndrome, periodical limb movement disorders, nocturnal leg cramps, sleep related rhythmic movement disorder, propriospinal myoclonus, movements related to medication use, myoclonus related to systemic diseases and benign myoclonus of sleep.(AU)

Uso da actigrafia na avaliação do ritmo atividade-repouso em pacientes com doença de Parkinson / Use of actigraphy on assessment of activity-rest rhythm in patients with Parkinson's disease

Distúrbios do sono são os mais comuns sintomas não-motores encontrados na doença de Parkinson (DP). OBJETIVOS: Avaliar a relação entre actigrafia e distúrbios do sono mais incidentes na DP. MÉTODOS: Pacientes com e sem DP foram avaliados quanto aos sintomas motores, qualidade do sono, cronotipo e objetivamente através do uso do actímetro. RESULTADOS: Encontrou-se uma significante redução da qualidade do sono entre os pacientes com DP (p = 0.0023), uma pior qualidade subjetiva do sono, maior uso de medicamentos para insônia, mais distúrbios do sono e uma maior fragmentação do ritmo atividade-repouso (IV) (p=0.0271). CONCLUSÃO: Pacientes com DP possuem uma pior qualidade de sono e um ritmo atividade-repouso mais fragmentado. A actigrafia pode ser útil na avaliação da qualidade do sono e do ciclo atividade repouso em pacientes com DP, contribuindo para o rastreio e acompanhamento de eventuais distúrbios do ritmo circadiano a esta doença associados. (AU)

Sleep disorders are the most common non-motor symptom found in Parkinson's Disease (PD). OBJECTIVES: To evaluate the relationship between actigraphy and more incidents sleep disorders in PD. METHODS: Patients with and without PD were assessed regarding motor symptoms, sleep quality, chronotype and objectively through the use of an actimeter. RESULTS: It was found a significant reduction of sleep quality among the patients with PD (p = 0.0023), a worse subjective sleep quality, they used more medications to sleep, they had more sleep disorders and a significantly higher fragmentation of pace (IV) (p = 0.0271). CONCLUSION: Patients with PD have a worse sleep quality and a rest-activity rythm fragmented. Actigraphy can be useful for assessing the quality of sleep and activity/rest cycle in patients with PD, contributing to the screening and follow-up of any circadian rhythm disorders associated to this disease. (AU)

Prevalence and correlates of sleep disorders in Parkinson's disease: a polysomnographic study.

OBJECTIVE: Sleep disorders in Parkinson's disease are very common. Polysomnography (PSG) is considered the gold standard for diagnosis. The aim of the present study is to assess the prevalence of nocturnal sleep disorders diagnosed by polysomnography and to determine the associated clinical factors. METHOD: A total of 120 patients with Parkinson's disease were included. All patients underwent a standardized overnight, single night polysomnography. RESULTS: Ninety-four (78.3%) patients had an abnormal PSG. Half of the patients fulfilled criteria for sleep apnea-hypopnea syndrome (SAHS); rapid eye movement behavior disorder (RBD) was present in 37.5%. Characteristics associated with SAHS were age (p = 0.049) and body mass index (p = 0.016). Regarding RBD, age (p < 0.001), left motor onset (p = 0.047) and levodopa equivalent dose (p = 0.002) were the main predictors. CONCLUSION: SAHS and RBD were the most frequent sleep disorders. Higher levodopa equivalent dose and body mass index appear to be risk factors for RBD and SAHS, respectively.

Sleep apnea and REM sleep behavior disorder in patients with Chiari malformations.

BACKGROUND: Chiari malformations (CM) may result in the appearance of REM sleep behavior disorder (RBD) and sleep apnea syndrome (SAS) that can be considered markers of brain stem dysfunction. PURPOSE: To evaluate the frequency of RBD and SAS in patients with CM type I and II. METHOD: Were evaluated 103 patients with CM by means of full night polysomnography. Were scoring different sleep stages, frequency of abnormal movements (through video monitoring) and abnormal respiratory events. RESULTS: Of the 103 patients, 36 showed CM type I and 67 CM type II. Episodes of RBD were observed in 23 patients. Abnormal apnea-hypopnea index (AHI) was observed in 65 patients. CONCLUSION: The high rate of RBD suggests that this parassomnia and the increased frequency of central sleep apnea episodes, may be considered as a marker of progressive brain stem dysfunction.

Sleep apnea and REM sleep behavior disorder in patients with Chiari malformations / Apnéia do sono e distúrbio do comportamento da fase do sono com REM em pacientes com malformações de Chiari

BACKGROUND: Chiari malformations (CM) may result in the appearance of REM sleep behavior disorder (RBD) and sleep apnea syndrome (SAS) that can be considered markers of brain stem dysfunction. PURPOSE: To evaluate the frequency of RBD and SAS in patients with CM type I and II. METHOD: Were evaluated 103 patients with CM by means of full night polysomnography. Were scoring different sleep stages, frequency of abnormal movements (through video monitoring) and abnormal respiratory events. RESULTS: Of the 103 patients, 36 showed CM type I and 67 CM type II. Episodes of RBD were observed in 23 patients. Abnormal apnea-hypopnea index (AHI) was observed in 65 patients. CONCLUSION: The high rate of RBD suggests that this parassomnia and the increased frequency of central sleep apnea episodes, may be considered as a marker of progressive brain stem dysfunction.

INTRODUÇÃO: Malformações de Chiari (MC) podem gerar o aparecimento de distúrbio comportamental da fase do sono com REM (DCR) e síndrome da apnéia do sono (SAS), sugerindo a ocorrência de disfunção do tronco cerebral. OBJETIVO: Avaliar a freqüência de DCR e SAS em pacientes com MC I ou II. MÉTODO: Utilizou-se a polissonografia de noite inteira para a avaliação de 103 pacientes. Classificaram-se as diferentes fases do sono e analisou-se a freqüência de movimentos anormais (monitorada por vídeo) e de eventos respiratórios anormais. RESULTADOS: Dos 103 pacientes analisados, 36 eram portadores de MC I e 67 de MC II. Episódios de DCR foram observados em 23 pacientes. O índice de apnéia/hipopnéia foi considerado anormal em 65 pacientes. CONCLUSÃO: A alta freqüência de DCR e o aumento da freqüência de episódios de apnéia central do sono podem ser considerados manifestação de disfunção progressiva do tronco cerebral.

REM sleep behavior disorder in patients with guadeloupean parkinsonism, a tauopathy.

STUDY OBJECTIVE: To describe sleep characteristics and rapid eye movement (REM) sleep behavior disorder in patients with Guadeloupean atypical parkinsonism (Gd-PSP), a tauopathy resembling progressive supranuclear palsy that mainly affects the midbrain. It is possibly caused by the ingestion of sour sop (corossol), a tropical fruit containing acetogenins, which are mitochondrial poisons. DESIGN: Sleep interview, motor and cognitive tests, and overnight videopolysomnography. PATIENTS: Thirty-six age-, sex-, disease-duration- and disability-matched patients with Gd-PSP (n = 9), progressive supranuclear palsy (a tauopathy, n = 9), Parkinson disease (a synucleinopathy, n = 9) and controls (n = 9). SETTINGS: Tertiary-care academic hospital. RESULTS: REM sleep behavior disorder was found in 78% patients with Gd-PSP (43% of patients reported having this disorder several years before the onset of parkinsonism), 44% of patients with idiopathic Parkinson disease, 33% of patients with progressive supranuclear palsy, and no controls. The percentage of muscle activity during REM sleep was greater in patients with Gd-PSP than in controls (limb muscle activity, 8.3%+/-8.7% vs 0.1%+/- 0.2%; chin muscle activity, 24.3%+/- 23.7% vs 0.7%+/-2.0%) but similar to that of other patient groups. The latency and percentage of REM sleep were similar in patients with Gd-PSP, patients with Parkinson disease, and controls, whereas patients with progressive supranuclear palsy had delayed and shortened REM sleep. CONCLUSION: Although Gd-PSP is a tauopathy, most patients experience REM sleep behavior disorder. This suggests that the location of neuronal loss or dysfunction in the midbrain, rather than the protein comprising the histologic lesions (synuclein versus tau aggregation), is responsible for suppressing muscle atonia during REM sleep. Subjects with idiopathic REM sleep behavior disorder should avoid eating sour sop.

[Violent behavior during sleep]. / Violência durante o sono.

Cases of violent behavior during sleep have been reported in the literature. However, the incidence of violent behavior during sleep is not known. One epidemiological study showed that approximately 2% of the general population, predominantly males, presented violent behavior while asleep. In the present study, the authors describe clinical and medico-legal aspects involved in violent behavior investigation. Violent behavior refers to self-injury or injury to another during sleep. It happens most frequently following partial awakening in the context of arousal disorders (parasomnias). The most frequently diagnosed sleep disorders are REM behavior disorder and somnambulism. Violent behavior might be precipitated by stress, use of alcohol or drugs, sleep deprivation or fever.

Violência durante o sono / Violent behavior during sleep

Casos de comportamento violento (CV) durante o sono são relatados na literatura. A incidência de comportamento violento durante o sono não é muito conhecida. Um estudo epidemiológico mostra que cerca de 2 por cento da população geral apresentava comportamento violento dormindo e eram predominantemente homens. Neste artigo, os autores descrevem aspectos clínicos e médico-legais envolvidos na investigação do comportamento violento. O comportamento violento se refere a ferimentos auto-infligidos ou infligidos a um terceiro durante o sono. Ocorre, muito freqüentemente, seguindo um despertar parcial no contexto de um transtorno de despertar (parassonias). Os transtornos do sono predominantes diagnosticados são: transtorno de comportamento REM e sonambulismo. O comportamento violento poderia ser precipitado pelo estresse, uso de álcool e drogas, privação do sono ou febre.