Protocol of the SOMNIA project : an observational study to create a neurophysiological database for advanced clinical sleep monitoring

Introduction Polysomnography (PSG) is the primary tool for sleep monitoring and the diagnosis of sleep disorders. Recent advances in signal analysis make it possible to reveal more information from this rich data source. Furthermore, many innovative sleep monitoring techniques are being developed that are less obtrusive, easier to use over long time periods and in the home situation. Here, we describe the methods of the Sleep and Obstructive Sleep Apnoea Monitoring with Non-Invasive Applications (SOMNIA) project, yielding a database combining clinical PSG with advanced unobtrusive sleep monitoring modalities in a large cohort of patients with various sleep disorders. The SOMNIA database will facilitate the validation and assessment of the diagnostic value of the new techniques, as well as the development of additional indices and biomarkers derived from new and/or traditional sleep monitoring methods. Methods and analysis We aim to include at least 2100 subjects (both adults and children) with a variety of sleep disorders who undergo a PSG as part of standard clinical care in a dedicated sleep centre. Full-video PSG will be performed according to the standards of the American Academy of Sleep Medicine. Each recording will be supplemented with one or more new monitoring systems, including wrist-worn photoplethysmography and actigraphy, pressure sensing mattresses, multimicrophone recording of respiratory sounds including snoring, suprasternal pressure monitoring and multielectrode electromyography of the diaphragm

Incidence of neuralgic amyotrophy (parsonage turner syndrome) in a primary care setting - A prospective cohort study

Objective Neuralgic amyotrophy is considered a rare peripheral nervous system disorder but in practice seems grossly under recognized, which negatively affects care for these patients. In this study we prospectively counted the one-year incidence rate of classic neuralgic amyotrophy in a primary care setting. Methods In a prospective cohort study during the year 2012 we registered all new cases of neck, shoulder or arm complaints from two large primary care centers serving a population of 14,118. Prior to study, general practitioners received a short training on how to diagnose classic neuralgic amyotrophy. Neuralgic amyotrophy was defined according to published criteria irrespective of family history. Only patients with a classic phenotype were counted as definite cases. After inclusion, patients with suspected neuralgic amyotrophy who had not yet seen a neurologist were offered neurologic evaluation for diagnostic confirmation. Results Of the 492 patients identified with new onset neck, shoulder or arm complaints, 34 were suspected of having neuralgic amyotrophy. After neurologic evaluation the diagnosis was confirmed in 14 patients. This amounts to a one-year incidence rate for classic neuralgic amyotrophy of 1 per 1000. Conclusions Our findings suggest that neuralgic amyotrophy is 30-50 times more common than previously thought. Unawareness of the disorder and its clinical presentation seems the most likely explanation for this difference. An incidence rate of 1 per 1000 and the long-term sequelae many patients suffer warrant more vigilance in diagnosing the disorder, to pave the way for timely treatment and prevent complications

Recognizing the Symptom Spectrum of Narcolepsy to Improve Timely Diagnosis: A Narrative Review

Narcolepsy is a chronic sleep disorder with a strong negative impact on quality of life, especially when untreated. Diagnostic delay is a persistent problem, with obvious detrimental effects on patients. A diagnosis of narcolepsy may be delayed because of its broad symptom presentation which is much more encompassing than the classical "tetrad" of sleepiness, cataplexy, hallucinations, and sleep paralysis. Furthermore, symptoms can vary over time. Presentation of symptoms can also be markedly different between children and adults. Finally, common sleep-related comorbidities increase the risk of narcolepsy being masked by overlapping symptoms or treatment. In this review, we provide a detailed description of the broad and dynamic symptom spectrum of narcolepsy, with specific attention to the different manifestations in both adults and children. The overarching goal is to help not only sleep specialists, but general practitioners, pediatricians, and other caregivers with early recognition and prompt diagnosis of this severe but treatable disorder

Two sides of a coin: differential response to COVID-19 distancing measures in children with narcolepsy

Narcolepsy is a chronic neurological sleep disorder, debuting before age 15 years in one-third of patients. Narcolepsy has a negative influence on quality of life, with daily functioning being affected by concomitant cognitive, behavioral, and social problems. In December 2019, a new coronavirus emerged worldwide, causing the severe respiratory disease COVID-19. In the Netherlands, a partial lockdown was implemented that included the closure of schools. Here we present 3 illustrative case reports that teach important lessons for the treatment of pediatric narcolepsy. We observed significant consequences of the partial lockdown measures on daytime functioning, well-being, and school performance, both negative and positive. The consequences of the lockdown led to valuable insights for further treatment, substantiating the importance of personalizing education. Involvement of specialized student counselors, flexibility in the way that education is delivered, and enhancement of environmental factors could help in guiding young patients with narcolepsy through challenges at school

Cataplexy and its mimics : clinical recognition and management

This review describes the diagnosis and management of cataplexy: attacks of bilateral loss of muscle tone, triggered by emotions and with preserved consciousness. Although cataplexy is rare, its recognition is important as in most cases, it leads to a diagnosis of narcolepsy, a disorder that still takes a median of 9 years to be diagnosed. The expression of cataplexy varies widely, from partial episodes affecting only the neck muscles to generalized attacks leading to falls. Moreover, childhood cataplexy differs from the presentation in adults, with a prominent facial involvement, already evident without clear emotional triggers ('cataplectic facies') and 'active' motor phenomena especially of the tongue and perioral muscles. Next to narcolepsy, cataplexy can sometimes be caused by other diseases, such as Niemann-Pick type C, Prader Willi Syndrome, or lesions in the hypothalamic or pontomedullary region. Cataplexy mimics include syncope, epilepsy, hyperekplexia, drop attacks and pseudocataplexy. They can be differentiated from cataplexy using thorough history taking, supplemented with (home) video recordings whenever possible. Childhood narcolepsy, with its profound facial hypotonia, can be confused with neuromuscular disorders, and the active motor phenomenona resemble those found in childhood movement disorders such as Sydenham's chorea. Currently, the diagnosis of cataplexy is made almost solely on clinical grounds, based on history taking and (home) videos. Cataplexy shows remarkable differences in childhood compared to adults, with profound facial hypotonia and complex active motor phenomena. Over time, these severe symptoms evolve to the milder adult phenotype, and this pattern is crucial to recognize when assessing the outcome of uncontrolled case series with potential treatments such as immunomodulation. Symptomatic treatment is possible with antidepressants and sodium oxybate. Importantly, management also needs to involve sleep hygiene advice, safety measures whenever applicable and guidance with regard to the social sequelae of cataplexy

A design research into the needs of a sleep diary for children

We describe the process and results of a study into the needs of a sleep diary for children that are suffering of insomnia. Applying a methodology oriented on the user we have identified needs of patients and professionals, transcribed them into functional and non-functional requirements, and created a low fidelity prototype

Adherence to continuous positive airway pressure in adults with an intellectual disability

Study objectives: This retrospective study evaluated the feasibility of continuous positive airway pressure (CPAP) therapy in adults with intellectual disabilities (ID). Methods: CPAP therapy of 24 obstructive sleep apnea syndrome (OSA) patients with ID were compared to age- and sex-matched adults with normal cognitive functioning. All ID patients received an intensive in-hospital training protocol to stimulate adherence. Good adherence was defined as a use of >70% of the nights and >4 h/night. Influencing factors were assessed. Results: Baseline apnea-hypopnea index (AHI) was significantly higher in ID patients compared to controls (median 34/h (range 6-101) versus 17/h (range 5-50), p = 0.013). The required average duration of in-hospital training was four nights (range 1-8 days). At six weeks, 60% of the ID patients showed good adherence and 65% at six months, compared to 71% and 50% respectively in the control group. Mean CPAP use per night was equal in both groups both at six weeks (5 h in both groups) and six months (ID 6:30 h vs control 5 h (p = 0.18)). CPAP adherence correlated with baseline AHI in the control patients, but not in ID patients. There was no correlation between CPAP adherence and the level of ID or the degree of support at home. Conclusions: Using an intensive training protocol it is very well feasible to apply CPAP therapy in OSA patients with any degree of ID. CPAP adherence in ID patients was comparable to the control patients in this study as well as to previously published adherence numbers. (C) 2017 Elsevier B.V. All rights reserved

What is in a name?: Definitions of insomnia in people with intellectual disabilities

BACKGROUND: The reported prevalence of insomnia symptoms in people with intellectual disabilities varies greatly, possibly due to the lack of a common definition. This article provides an overview of the different definitions used and formulates key points for a general definition. METHODS: A literature search was performed. An overview of the definitions used was given and compared to the third edition of the international classification of sleep disorders. RESULTS: The search yielded 16 studies. No uniform definition was used. Terminology and cut-off points of insomnia symptoms differed. Insomnia symptoms were mostly described as night-time problems. A minority of studies incorporated daytime consequences. CONCLUSION: An insomnia disorder entails more than merely night-time complaints and should include daytime consequences. A general definition is warranted. This definition should focus on night-time and daytime insomnia symptoms, incorporate subjective features, and discuss the use of objective measurements and influence of environmental circumstances