School Problems and School Support for Children with Narcolepsy: Parent, Teacher, and Child Reports.

OBJECTIVE: To assess problems faced by children with type 1 narcolepsy (NT1) at school and obtain insight into potential interventions for these problems. METHODS: We recruited children and adolescents with NT1 from three Dutch sleep-wake centers. Children, parents, and teachers completed questionnaires about school functioning, interventions in the classroom, global functioning (DISABKIDS), and depressive symptoms (CDI). RESULTS: Eighteen children (7-12 years) and thirty-seven adolescents (13-19 years) with NT1 were recruited. Teachers' most frequently reported school problems were concentration problems and fatigue (reported by about 60% in both children and adolescents). The most common arrangements at school were, for children, discussing school excursions (68%) and taking a nap at school (50%) and, for adolescents, a place to nap at school (75%) and discussing school excursions (71%). Regular naps at home on the weekend (children 71% and adolescents 73%) were more common than regular naps at school (children 24% and adolescents 59%). Only a minority of individuals used other interventions. School support by specialized school workers was associated with significantly more classroom interventions (3.5 versus 1.0 in children and 5.2 versus 4.1 in adolescents) and napping at school, but not with better global functioning, lower depressive symptom levels, or napping during the weekends. CONCLUSIONS: Children with NT1 have various problems at school, even after medical treatment. Interventions to help children with NT1 within the classroom do not seem to be fully implemented. School support was associated with the higher implementation of these interventions. Longitudinal studies are warranted to examine how interventions can be better implemented within the school.

Epilepsy and Sleep in the ATR-X Syndrome.

BACKGROUND: This study explores the prevalence, clinical characteristics, and treatment of epilepsy and sleep disorders in α thalassemia mental retardation (ATR-X) syndrome. DESIGN: In this cross-sectional study, 37 participants with ATR-X syndrome aged 1.8 to 44 years were studied using a customized epilepsy questionnaire, review of electroencephalography (EEG) findings, the modified Sleep Questionnaire of Simonds and Parraga and 2-week sleep diary. RESULTS: Eleven participants had a clinical diagnosis of generalized epilepsy (29.7%). Seizure types were generalized tonic-clonic seizures, absences, and myoclonia. Interictal EEG recordings in participants with GTCS showed no epileptic discharges in 78%. Similarly, EEG recordings during myoclonia and absences often demonstrated no epileptic discharges. Sleep problems (difficulty falling or maintaining sleep, and early awakening) were reported in 70%. Participants with reported sleep problems went to bed earlier (p = 0.027) and had a lower sleep efficiency (p < 0.01) than participants without sleep problems, but as a group they both had a sufficient total sleep time (9 hours and 52 minutes vs. 10 hours and 55 minutes). Sixteen participants (43.2) used medication to improve sleep (predominantly melatonin n = 10), being effective in only two. CONCLUSION: One-third of participants with ATR-X syndrome had a clinical diagnosis of epilepsy, but the absence of EEG abnormalities in suspected epileptic seizures questions this diagnosis in these patients. EEG recording during seizure like symptoms is warranted before making an epilepsy diagnosis. Seventy percent experienced sleep problems, although total sleep time was normal in most participants. Long bedtimes might have a negative influence on sleep efficiency.

It is All in the Wrist: Wearable Sleep Staging in a Clinical Population versus Reference Polysomnography.

PURPOSE: There is great interest in unobtrusive long-term sleep measurements using wearable devices based on reflective photoplethysmography (PPG). Unfortunately, consumer devices are not validated in patient populations and therefore not suitable for clinical use. Several sleep staging algorithms have been developed and validated based on ECG-signals. However, translation from these techniques to data derived by wearable PPG is not trivial, and requires the differences between sensing modalities to be integrated in the algorithm, or having the model trained directly with data obtained with the target sensor. Either way, validation of PPG-based sleep staging algorithms requires a large dataset containing both gold standard measurements and PPG-sensor in the applicable clinical population. Here, we take these important steps towards unobtrusive, long-term sleep monitoring. METHODS: We developed and trained an algorithm based on wrist-worn PPG and accelerometry. The method was validated against reference polysomnography in an independent clinical population comprising 244 adults and 48 children (age: 3 to 82 years) with a wide variety of sleep disorders. RESULTS: The classifier achieved substantial agreement on four-class sleep staging with an average Cohen's kappa of 0.62 and accuracy of 76.4%. For children/adolescents, it achieved even higher agreement with an average kappa of 0.66 and accuracy of 77.9%. Performance was significantly higher in non-REM parasomnias (kappa = 0.69, accuracy = 80.1%) and significantly lower in REM parasomnias (kappa = 0.55, accuracy = 72.3%). A weak correlation was found between age and kappa (ρ = -0.30, p<0.001) and age and accuracy (ρ = -0.22, p<0.001). CONCLUSION: This study shows the feasibility of automatic wearable sleep staging in patients with a broad variety of sleep disorders and a wide age range. Results demonstrate the potential for ambulatory long-term monitoring of clinical populations, which may improve diagnosis, estimation of severity and follow up in both sleep medicine and research.

Singular Value Decomposition for Removal of Cardiac Interference from Trunk Electromyogram.

A new algorithm based on singular value decomposition (SVD) to remove cardiac contamination from trunk electromyography (EMG) is proposed. Its performance is compared to currently available algorithms at different signal-to-noise ratios (SNRs). The algorithm is applied on individual channels. An experimental calibration curve to adjust the number of SVD components to the SNR (0-20 dB) is proposed. A synthetic dataset is generated by the combination of electrocardiography (ECG) and EMG to establish a ground truth reference for validation. The performance is compared with state-of-the-art algorithms: gating, high-pass filtering, template subtraction (TS), and independent component analysis (ICA). Its applicability on real data is investigated in an illustrative diaphragm EMG of a patient with sleep apnea. The SVD-based algorithm outperforms existing methods in reconstructing trunk EMG. It is superior to the others in the time (relative mean squared error < 15%) and frequency (shift in mean frequency < 1 Hz) domains. Its feasibility is proven on diaphragm EMG, which shows a better agreement with the respiratory cycle (correlation coefficient = 0.81, p-value < 0.01) compared with TS and ICA. Its application on real data is promising to non-obtrusively estimate respiratory effort for sleep-related breathing disorders. The algorithm is not limited to the need for additional reference ECG, increasing its applicability in clinical practice.

Effect of treatment on cognitive and attention problems in children with narcolepsy type 1.

STUDY OBJECTIVES: To ascertain the presence of cognitive and attention problems in treatment naïve children with narcolepsy type 1 (NT1) and to explore whether children recently diagnosed with NT1 improve with respect to cognition and attention problems 1 year after regular treatment for NT1. METHODS: A total of 15 treatment naïve children (7-15 years) with recently diagnosed NT1 were recruited from three sleep medicine centers in the Netherlands. The control group consisted of 15 healthy children, being frequency matched on age and gender. Both groups were investigated at baseline to examine intelligence profile (Wechsler Intelligence Scale for Children [WISC] III), attention problems, and processing speed (Bourdon Vos and sustained attention to respond task [SART]). These tests were repeated in children with NT1 1 year after regular (behavioral and medication) treatment for NT1. RESULTS: Children with NT1 scored significantly lower on the verbal scale and processing speed subscale of the WISC III, showed more fluctuations in reaction time of the Bourdon Vos and made more mistakes during the SART than the healthy control group at baseline. Children with NT1 significantly improved on total IQ score, and on the WISC indices processing speed, and perceptual organization 1 year after treatment. At follow-up, test scores of treated children were largely comparable to those of the control group at baseline. CONCLUSIONS: Children with NT1 show improvement in several cognitive domains 1 year after start of treatment. Our findings stress the need for early detection and treatment of narcolepsy in childhood.

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. ETHICS AND DISSEMINATION: The study was reviewed by the medical ethical committee of the Maxima Medical Center (Eindhoven, the Netherlands, File no: N16.074). All subjects provide informed consent before participation.The SOMNIA database is built to facilitate future research in sleep medicine. Data from the completed SOMNIA database will be made available for collaboration with researchers outside the institute.

The impact of delayed sleep phase disorder on adolescents and their family.

INTRODUCTION: We investigated the impact of delayed sleep phase disorder (DSPD) on the daily lives of adolescents and their families. METHOD: In this qualitative study, six adolescents with DSPD, and six parents were given in-depth interviews. Using thematic analysis, we merged open codes into themes that reflected the impact of the disorder. RESULT: We identified five themes: (1) Impact on the adolescents' school and social life: describing the negative influence of DSPD on school performance and friendships. (2) Impact on the parents, feeling guilty and powerless: showing the consequences of many unsuccessful attempts to improve the situation, with a lack of understanding from their social support system. (3) Impact on the family, conflicts, and misunderstanding: describing the negative influence on other family members, family relationships, and home atmosphere. (4) Impact on the parents, being weary of everything: describing the effect on the parents' mood and social life. (5) Factors mediating the severity of impact, of which personal characteristics and school support seemed most important. Themes 2 to 4 were highly interrelated. CONCLUSIONS: Adolescent DSPD not only affects cognitive functioning and mental health but has a much broader impact, also affecting social life, family life, and parental well-being. This information provides new potential points of engagement for therapy, guidance, and support for these families. Greater awareness and recognition of the impact of DSPD is needed on the part of physicians as well as the general population, to increase support and reduce misunderstanding of these adolescents and their parents.

Impaired social functioning in children with narcolepsy.

Study Objectives: To explore impairments in social functioning in children with narcolepsy compared to healthy children. Methods: Parents of 53 pediatric patients with narcolepsy type 1 and 64 matched healthy children completed the Social Responsiveness Scale (SRS) and the Child Behavior Checklist 6-18 (CBCL 6-18). Results: Patients scored significantly higher on the total score of the SRS (median 56, interquartile range [IQR] 23.5) compared to controls (median 44.5, IQR 8.5, U = 797.0, p < 0.001). Patients also scored higher on the sum of the CBCL 6-18 subscales indicative of social functioning (Withdrawn/Depressed, Social Problems, and Thought Problems; median 183, IQR 30.5) compared to controls (median 155, IQR 13, U = 500.0, p < 0.001). A total of 24 patients (45.3%) reported at least mild-to-moderate difficulties in social functioning compared to seven controls (10.9%, χ2 = 17.165, p < 0.001). Eleven patients (20.8%) and only one control (1.6%) had T scores above 75, which points to severely impaired social functioning (χ2 = 11.602, p = 0.001). Within the patient group, girls reported mild-to-moderate difficulties in social functioning significantly more often compared to boys on the SRS (77.8% versus 28.6%, χ2 = 17.560, p < 0.001). Conclusions: Impaired social functioning is common in children with narcolepsy type 1, especially in girls. Questionnaires such as the SRS and the CBCL 6-18 may help in early detection of social problems in pediatric narcolepsy. Recognition of these problems could be valuable in the management of young people with narcolepsy.

ERS statement on obstructive sleep disordered breathing in 1- to 23-month-old children.

The present statement was produced by a European Respiratory Society Task Force to summarise the evidence and current practice on the diagnosis and management of obstructive sleep disordered breathing (SDB) in children aged 1-23 months. A systematic literature search was completed and 159 articles were summarised to answer clinically relevant questions. SDB is suspected when symptoms or abnormalities related to upper airway obstruction are identified. Morbidity (pulmonary hypertension, growth delay, behavioural problems) and coexisting conditions (feeding difficulties, recurrent otitis media) may be present. SDB severity is measured objectively, preferably by polysomnography, or alternatively polygraphy or nocturnal oximetry. Children with apparent upper airway obstruction during wakefulness, those with abnormal sleep study in combination with SDB symptoms (e.g. snoring) and/or conditions predisposing to SDB (e.g. mandibular hypoplasia) as well as children with SDB and complex conditions (e.g. Down syndrome, Prader-Willi syndrome) will benefit from treatment. Adenotonsillectomy and continuous positive airway pressure are the most frequently used treatment measures along with interventions targeting specific conditions (e.g. supraglottoplasty for laryngomalacia or nasopharyngeal airway for mandibular hypoplasia). Hence, obstructive SDB in children aged 1-23 months is a multifactorial disorder that requires objective assessment and treatment of all underlying abnormalities that contribute to upper airway obstruction during sleep.

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.

How do we recognize the child with OSAS?

Obstructive sleep-disordered breathing includes a spectrum of clinical entities with variable severity ranging from primary snoring to obstructive sleep apnea syndrome (OSAS). The clinical suspicion for OSAS is most often raised by parental report of specific symptoms and/or abnormalities identified by the physical examination which predispose to upper airway obstruction (e.g., adenotonsillar hypertrophy, obesity, craniofacial abnormalities, neuromuscular disorders). Symptoms and signs of OSAS are classified into those directly related to the intermittent pharyngeal airway obstruction (e.g., parental report of snoring, apneic events) and into morbidity resulting from the upper airway obstruction (e.g., increased daytime sleepiness, hyperactivity, poor school performance, inadequate somatic growth rate or enuresis). History of premature birth and a family history of OSAS as well as obesity and African American ethnicity are associated with increased risk of sleep-disordered breathing in childhood. Polysomnography is the gold standard method for the diagnosis of OSAS but may not be always feasible, especially in low-income countries or non-tertiary hospitals. Nocturnal oximetry and/or sleep questionnaires may be used to identify the child at high risk of OSAS when polysomnography is not an option. Endoscopy and MRI of the upper airway may help to identify the level(s) of upper airway obstruction and to evaluate the dynamic mechanics of the upper airway, especially in children with combined abnormalities. Pediatr Pulmonol. 2017;52:260-271. © 2016 Wiley Periodicals, Inc.

Obstructive sleep disordered breathing in 2- to 18-year-old children: diagnosis and management.

This document summarises the conclusions of a European Respiratory Society Task Force on the diagnosis and management of obstructive sleep disordered breathing (SDB) in childhood and refers to children aged 2-18 years. Prospective cohort studies describing the natural history of SDB or randomised, double-blind, placebo-controlled trials regarding its management are scarce. Selected evidence (362 articles) can be consolidated into seven management steps. SDB is suspected when symptoms or abnormalities related to upper airway obstruction are present (step 1). Central nervous or cardiovascular system morbidity, growth failure or enuresis and predictors of SDB persistence in the long-term are recognised (steps 2 and 3), and SDB severity is determined objectively preferably using polysomnography (step 4). Children with an apnoea-hypopnoea index (AHI) >5 episodes·h(-1), those with an AHI of 1-5 episodes·h(-1) and the presence of morbidity or factors predicting SDB persistence, and children with complex conditions (e.g. Down syndrome and Prader-Willi syndrome) all appear to benefit from treatment (step 5). Treatment interventions are usually implemented in a stepwise fashion addressing all abnormalities that predispose to SDB (step 6) with re-evaluation after each intervention to detect residual disease and to determine the need for additional treatment (step 7).

Assessment of respiratory effort during sleep: Esophageal pressure versus noninvasive monitoring techniques.

Monitoring of respiratory effort is paramount in the clinical diagnostic recording of sleep. Increased respiratory effort is a sign of obstructive sleep-disordered breathing and is associated with arousals from sleep. Respiration is the result of muscle activity that induces negative intrathoracic pressure and expansion of the thoracic and abdominal cavities. Therefore respiratory effort may be recorded from mechanical, electrical and electromechanical signals. Several techniques are available for the recording of respiratory effort. Monitoring of esophageal pressure is still the method of choice, as the pressure signal directly reflects the respiratory muscle force. However, esophageal pressure monitoring is cumbersome and may be replaced with noninvasive techniques. In order to be reliable, these techniques must be validated against the esophageal pressure standard. The present review presents a concise description of the technical principles and, if available, a comparison with esophageal pressure data, based on a systematic literature search. Most data are available on respiratory inductance plethysmography, and confirm that this technique is suitable for routine diagnostic investigation of respiratory effort during sleep. Pulse transit time, diaphragmatic electromyography, snoring loudness, suprasternal pressure monitoring, midsagittal jaw movement and forehead venous pressure monitoring are promising alternative techniques although only limited validation is available.

Behavioural hyperventilation as a novel clinical condition associated with central sleep apnoea: a report of three cases.

Central sleep apnoea (CSA) is a disorder characterised by repetitive episodes of decreased ventilation due to complete or partial reduction in the central neural outflow to the respiratory muscles. Hyperventilation plays a prime role in the pathogenesis of CSA. Chronic heart failure and dwelling at high altitude are classical conditions in which CSA is induced by hyperventilation. Hyperventilation syndrome (HVS) is a prevalent behavioural condition in which minute ventilation exceeds metabolic demands, resulting in haemodynamic and chemical changes that produce characteristic dysphoric symptoms. HVS is frequently caused by anxiety disorders and panic attacks. Until now, medical literature has focussed primarily on daytime symptoms of behavioural hyperventilation. It is currently unknown how this condition may affect sleep. Three cases are reported in which behavioural hyperventilation was associated with occurrence of significant central sleep apnoea, which was not present during normal tidal breathing in steady sleep. Therefore, behavioural hyperventilation should be added to the list of known clinical conditions associated with CSA.

Nocturnal apnea in Chiari type I malformation.

UNLABELLED: A 4-year-old girl presented with sleep-disordered breathing. Her parents described breathing pauses of up to 20 s and progressive tiredness during the day. Obstructive apneas from an enlarged adenoid were thought to be the most probable cause. However, an adenotomy did not resolve the problem. Polysomnography demonstrated central apneas, and cerebral magnetic resonance imaging revealed a Chiari type I malformation. We describe the differential diagnosis of apnea in children and the role of polysomnography in the distinction between obstructive and central apneas. CONCLUSION: This case illustrates that, in children with apnea, it is important to consider central causes as well as the more common obstructive causes, even in the absence of additional neurological signs or symptoms.