Scoring sleep in neurodegenerative diseases: A pilot study in the synucleinopathies.

BACKGROUND: Neurodegenerative diseases often alter sleep architecture, complicating the application of the standard sleep scoring rules. There are no recommendations to overcome this problem. Our aim was to develop a scoring method that incorporates the stages previously applied in dementia with Lewy Bodies (DLB), anti-IgLON5 disease, and fatal insomnia, and to test it in patients with alpha-synucleinopathies. METHODS: Video-polysomnographies (VPSG) of nine patients (DLB:3, Parkinson's disease (PD):3, and multiple system atrophy (MSA):3) selected for their difficulty in applying standard rules were scored independently by two authors, using additional Sleep/Wake stages. These included Abnormal Wake, Subwake, Undifferentiated NREM sleep (UNREM), Poorly structured N2 (P-S N2) and abnormal REM sleep including REM without atonia (RWA), REM without low-amplitude, mixed-frequency EEG activity (RWL) and REM without rapid eye movements (RWR). RESULTS: Patients (4 females) had a median age of 74 (range 63-85). Six patients (all with PD or DLB) had abnormal EEG awake and Subwake stage. UNREM sleep was present in all patients, typically at sleep onset, and was the most common sleep stage in five. P-S N2 was recorded only in the three patients with MSA. Periods of normal and abnormal NREM coexisted in three patients. RWA was the predominant REM subtype, RWR occurred mainly in patients with MSA and RWL in those with DLB. Six patients had brief REM episodes into NREM sleep which we termed "Encapsulated RBD". CONCLUSION: Our scoring system allows an accurate description of the complex sleep-wake changes in patients with alpha-synucleinopathies.

Violent and Complex Behaviors and Non-Restorative Sleep Are the Main Features of Disorders of Arousal in Adulthood: Real Picture or a More Severe Phenotype?

Disorders of arousal (DoA) are NREM parasomnias characterized by motor and emotional behaviors emerging from incomplete arousals from deep sleep. DoA are largely present in pediatric populations, a period during which they are labeled as self-limited manifestations. However, an extensive literature has shown that DoA can persist in adulthood, with different characteristics from childhood DoA. Adult DoA patients usually report excessive daily sleepiness, sleep-related violence during DoA episodes or potentially harmful behaviors, which are rare in childhood. The semeiological features of DoA episodes in adulthood may complicate differential diagnoses with other motor manifestations during sleep, in particular sleep-related hypermotor epilepsy. However, it cannot be excluded that adults with DoA attending sleep centers constitute a more severe phenotype, thus not being representative of adult DoA in the general population. Video-polysomnographic studies of DoA document a spectrum of motor patterns of different complexities, the simplest of which may often go unnoticed. Despite the different complexities of the episodes, neurophysiologic studies showed the co-existence of deep sleep and wakefulness during DoA episodes or even before their onset. These aspects make DoA an ideal model to investigate the mechanisms regulating local sleep, sleep arousal and cognitive functions including spatial and temporal orientation, attention or memory.

REM sleep behavior disorder with predominant nightmares in a patient with ischemic pontine lesions.

Rapid eye movement (REM) sleep behavior disorder (RBD) is a parasomnia typically associated with synucleinopathy and evolving to neurodegenerative disorders. RBD is caused by impairment of brainstem nuclei controlling REM sleep muscle atonia. Rarely, focal lesions of the brainstem can cause secondary RBD. We present the case of a 74-year-old patient, previously evaluated at age 70 years for insomnia and periodic limb movements during sleep, who then rapidly developed unpleasant dreams with minor motor behavior, affecting his sleep quality. Polysomnography recorded REM sleep without atonia and motor behaviors in REM sleep. Ischemic lesions in the pons were detected by magnetic resonance imaging. Clinical, biological, and instrumental biomarkers of neurodegeneration were repeatedly negative at 2 years' follow-up. Although rare, a lesional cause of RBD must be considered in cases of atypical presentation and without evidence of neurodegeneration. The complaint of unpleasant dreams suggests a possible role of brainstem nuclei controlling REM sleep atonia in affecting oneiric content. CITATION: Biscarini F, Montini A, Antelmi E, Vandi S, Pizza F, Plazzi G. REM sleep behavior disorder with predominant nightmares in a patient with ischemic pontine lesions. J Clin Sleep Med. 2022;18(3):945-948.

The Genetics of Sleep Disorders in Children: A Narrative Review.

Sleep is a universal, highly preserved process, essential for human and animal life, whose complete functions are yet to be unravelled. Familial recurrence is acknowledged for some sleep disorders, but definite data are lacking for many of them. Genetic studies on sleep disorders have progressed from twin and family studies to candidate gene approaches to culminate in genome-wide association studies (GWAS). Several works disclosed that sleep-wake characteristics, in addition to electroencephalographic (EEG) sleep patterns, have a certain degree of heritability. Notwithstanding, it is rare for sleep disorders to be attributed to single gene defects because of the complexity of the brain network/pathways involved. Besides, the advancing insights in epigenetic gene-environment interactions add further complexity to understanding the genetic control of sleep and its disorders. This narrative review explores the current genetic knowledge in sleep disorders in children, following the International Classification of Sleep Disorders-Third Edition (ICSD-3) categorisation.

Hyperacute reversible encephalopathy related to cytokine storm following COVID-19 vaccine.

We describe the first case of hyperacute reversible encephalopathy following COVID-19 vaccination. A patient presented with acute onset encephalopathy, mainly characterized by agitation and confusion, rapidly responsive to high dosage steroid therapy and complete remission within 3 days from onset. The clinical manifestation was related with systemic and CSF cytokine hyperproduction, responsive to steroid therapy. Although the occurrence of encephalopathy after vaccination may be just a casual temporal association, we speculate that the cytokine-storm could be the result of an excessive innate immune response against the vaccine, in a predisposed patient susceptible to autoimmunity.

Sleep-Related Hypermotor Epilepsy vs Disorders of Arousal in Adults: A Step-Wise Approach to Diagnosis.

Disorders of arousal (DoA) and sleep-related hypermotor epilepsy (SHE) are sleep-related events characterized by complex, often bizarre, and violent behaviors. DoA are involuntary motor manifestations of various complexities occurring during incomplete awakening from non-rapid eye movement sleep. SHE is a focal epilepsy characterized by stereotyped hyperkinetic or/and asymmetric tonic/dystonic seizures usually arising from non-rapid eye movement sleep. Even if many aspects regarding DoA and SHE have been clarified, the differential diagnosis remains challenging, because DoA and SHE share some semiologic features and genetic background. The clinical history, collected from the patient and his/her witness, represents the first and common milestone in the diagnosis. Validated questionnaires constitute suitable screening tools that could guide further analysis. The worldwide availability of homemade video recordings has increased the possibility of adding more objective information to the clinical history alone. The confirmed diagnosis relies on video-polysomnographic recording although it requires time, economic resources, and specific skills for the analysis. In this review we propose a simple diagnostic algorithm for the differential diagnosis between DoA and SHE in adults, based on the most updated knowledge, from the simpler tool to the most specific and tailored one.

Conhecimento dos médicos e enfermeiros sobre o pré-natal odontológico em um Município da região carbonífera de Santa Catarina / Knowledge of physicians and nurses on dental prenatal in a municipality of the carboniferous region in Santa Catarina

Introdução: A assistência odontológica se mostra muito eficaz durante o acompanhamento pré-natal, desmistificando situações e levando informações à gestante primordiais para o andamento da sua gestação de forma saudável. Para tal, é essencial o conhecimento técnico-científico dos profissionais envolvidos durante esse período. Métodos: Foi realizada uma pesquisa censitária com os médicos e enfermeiros das unidades básicas de saúde de um município da região carbonífera de Santa Catarina, por meio da aplicação de um roteiro de entrevista com questões abertas e fechadas de acordo com a disponibilidade dos profissionais, sendo que cada local foi visitado ao máximo duas vezes. As entrevistas foram gravadas e transcritas a fim de manter fidedignas as respostas avaliadas. Resultados: Demonstrou-se que, apesar dos trabalhos da atualidade, o atendimento odontológico curativo ainda é prevalente, onde as gestantes, apesar de informadas sobre a importância de uma consulta de rotina por 71,40% dos profissionais, ainda se mantem fieis aos mitos que podem ser prejudiciais ao período em que se encontram. Ademais, os profissionais envolvidos necessitam avaliar a importância de requalificar seus conhecimentos, para que possam melhor assisti-las, pois há relação significativa de 100% entre os mitos sobre o uso de anestésico sem vasoconstritores e profissionais de maior faixa etária. Conclusão: Verificou-se falta de conhecimento e uma prevalência de mitos envolvendo a gestante e a consulta odontológica, por parte dos médicos e enfermeiros.

Introduction: The dental assistance is shown to be very effective during prenatal care, demystifying situations and giving information to the pregnant woman that is essential for the progress of her pregnancy in a healthy way; for this, it is essential the technical-scientific knowledge of the professionals involved during this period. Objective: To evaluate the knowledge of doctors and nurses regarding prenatal dentistry. Methods: A census survey was conducted with physicians and nurses of the health center in a city in the carboniferous region, through the application of an interview script with open and closed questions according to the availability of professionals, and each place was visited the most twice. The interviews were recorded and transcribed in order to keep the evaluated responses reliable. Results: It was demonstrated that despite current work, curative dental care is still prevalent, where pregnant women, although informed about the importance of a routine consultation by 71.40% of professionals, still remain faithful to the myths that may be detrimental to the period in which they are. In addition, the professionals involved need to evaluate the importance of requalifying their knowledge, so that they can better assist them, as there is a significant relationship of 100% between the myths about the use of anesthetics without vasoconstrictors and professionals of greater age group. Conclusion: There was a lack of knowledge and a prevalence of myths involving the pregnant woman and the dental consultation by the doctors and nurses.