Sleep apnoea and hypoventilation in patients with five major types of muscular dystrophy.

BACKGROUND: The characteristics of and relationship between sleep apnoea and hypoventilation in patients with muscular dystrophy (MD) remain to be fully understood. METHODS: We analysed 104 in-laboratory sleep studies of 73 patients with MD with five common types (DMD-Duchenne, Becker MD, CMD-congenital, LGMD-limb-girdle and DM-myotonic dystrophy). We used generalised estimating equations to examine differences among these types for outcomes. RESULTS: Patients in all five types had high risk of sleep apnoea with 53 of the 73 patients (73%) meeting the diagnostic criteria in at least one study. Patients with DM had higher risk of sleep apnoea compared with patients with LGMD (OR=5.15, 95% CI 1.47 to 18.0; p=0.003). Forty-three per cent of patients had hypoventilation with observed prevalence higher in CMD (67%), DMD (48%) and DM (44%). Hypoventilation and sleep apnoea were associated in those patients (unadjusted OR=2.75, 95% CI 1.15 to 6.60; p=0.03), but the association weakened after adjustment (OR=2.32, 95% CI 0.92 to 5.81; p=0.08). In-sleep average heart rate was about 10 beats/min higher in patients with CMD and DMD compared with patients with DM (p=0.0006 and p=0.02, respectively, adjusted for multiple testing). CONCLUSION: Sleep-disordered breathing is common in patients with MD but each type has its unique features. Hypoventilation was only weakly associated with sleep apnoea; thus, high clinical suspicion is needed for diagnosing hypoventilation. Identifying the window when respiratory muscle weakness begins to cause hypoventilation is important for patients with MD; it enables early intervention with non-invasive ventilation-a therapy that should both lengthen the expected life of these patients and improve its quality.Cite Now.

Nonpharmacologic Interventions and Seizure Frequency in Patients With Psychogenic Nonepileptic Seizures: An Integrative Review.

BACKGROUND: Psychogenic nonepileptic seizures (PNES) pose a heavy burden on patients' lives and the health care system. The symptoms of PNES are often debilitating and cause high rates of disability and poor quality of life. Many treatment options are available, but there is no clear consensus on best practices. AIM: To critique and synthesize the current literature on nonpharmacologic interventions and effects on seizure frequency in patients with PNES. METHODS: An integrative review guided by the Whittemore and Knafl approach. RESULTS: The review included 24 studies published from 2010 to 2020. Interventions for PNES included individualized psychotherapies, group therapies, multimodal psychotherapies, self-help therapies, and complementary and alternative medicine therapies. Individual psychotherapies such as cognitive behavioral therapy and psychoeducation were the most used treatment modalities. The most effective treatments for seizure frequency reduction were those that included multiple psychotherapy sessions with a health care provider and covered multiple domains (e.g., understanding of diagnosis, identifying triggers, and developing effective coping strategies). CONCLUSIONS: Seizure frequency can be reduced in patients with PNES with multiple nonpharmacologic interventions. However, seizure frequency is not considered a comprehensive outcome measure and provides little insight into other important life domains. Further research is needed on nonpharmacologic interventions for PNES and effects on other areas of life such as sleep, employment status, global functioning, and self-efficacy.

Non-REM Parasomnia: The Promise of Precision Medicine.

Our understanding of non-REM parasomnias is just beginning to unfold the potential biomarkers and underlying pathophysiologic processes that lead to these events. Biomarkers need further investigation and will help us to understand better ways to develop risk models and possible mechanisms. Similarly, as we develop more accurate pathophysiologic-based diagnostic testing for non-REM parasomnias, we will begin the evolution toward a physiologic-based classification scheme that aids the application of precision medicine. This article explores currently known characteristics and exploratory features that may aid in this transition to better understanding our individual patients with non-REM parasomnias and tailoring their treatments.

Incorporating sleep medicine content into medical school through neuroscience core curricula.

OBJECTIVE: To present (1) justification for earmarking sleep medicine education as an essential component of all medical school curricula and (2) various avenues to incorporate sleep medicine exposure into medical school curricula through (primarily) neuroscience and neurology courses. METHODS: Per consensus of a team of leading neurology and sleep medicine educators, an evidence-based rationale for including sleep medicine across a 4-year medical school curriculum is presented along with suggested content, available/vetted resources, and formats for delivering sleep medicine education at various points and through various formats. RESULTS: Growing evidence has linked sleep disorders (e.g., sleep-disordered breathing, chronic insufficient sleep) as risk factors for several neurologic disorders. Medical educators in neurology/neuroscience are now strongly advocating for sleep medicine education in the context of neurology/neuroscience pre and post graduate medical education. Sleep medicine education is also a critical component of a proactive strategy to address physician wellness and burnout. The suggested curriculum proposes a sleep educational exposure time of 2-4 hours per year in the form of lectures, flipped-classroom sessions, clinical opportunities, and online educational tools that would result in a 200%-400% increase in the amount of sleep medicine exposure that US medical schools currently provide. The guidelines are accompanied by the recommendation for use of technological education, to facilitate more seamless curricular incorporation. CONCLUSION: Even in this era with limited flexibility to add content to an already packed medical school curriculum, incorporating sleep medicine exposure into the current medical school curriculum is both justified and feasible.

Sleep Disorders in Childhood Neurogenetic Disorders.

enetic advances in the past three decades have transformed our understanding and treatment of many human diseases including neurogenetic disorders. Most neurogenetic disorders can be classified as "rare disease," but collectively neurogenetic disorders are not rare and are commonly encountered in general pediatric practice. The authors decided to select eight relatively well-known neurogenetic disorders including Down syndrome, Angelman syndrome, Prader-Willi syndrome, Smith-Magenis syndrome, congenital central hypoventilation syndrome, achondroplasia, mucopolysaccharidoses, and Duchenne muscular dystrophy. Each disorder is presented in the following format: overview, clinical characteristics, developmental aspects, associated sleep disorders, management and research/future directions.

Febrile Infection-Related Epilepsy Syndrome (FIRES): A Literature Review and Case Study.

Febrile infection-related epilepsy syndrome (FIRES) is a catastrophic epileptic syndrome that strikes previously healthy children aged 3-15 years and has an unknown pathogenesis and few treatments. These children experience a nonspecific febrile illness that is followed by prolonged refractory status epilepticus. Although the etiology is unknown, FIRES has a biphasic presentation, with the acute phase beginning as seizure activity lasting 1-12 weeks, then followed by the chronic phase, which is characterized by refractory seizures that cluster every 2-4 weeks, and may continue to be multifocal and independent. Treatment of FIRES is difficult, typically unresponsive to antiepileptic drugs. Some children resolve temporarily with drug-induced burst suppression comas. Other therapies such as a ketogenic diet have limited benefit. The outcome varies with the length of the acute phase and is usually poor, with up to 30% of cases ending in death and 66-100% of survivors having intellectual disability. The authors present a case of a 6-year-old child presenting with FIRES and refractory status epilepticus, which continued despite multidrug therapy. The patient underwent immunomodulatory therapy with the eventual resolution of status, but she developed a chronic, moderately severe encephalopathy, including intractable epilepsy. This case highlights the challenges of FIRES and the potential of immunomodulatory therapies for children with this disorder.

Comorbid Sleep Disturbances in Neurologic Disorders.

PURPOSE OF REVIEW: This article provides a review of disturbances of sleep comorbid with common neurologic disorders. RECENT FINDINGS: A wide variety of neurologic disorders are frequently complicated by comorbid sleep disturbances. In many cases, a bidirectional relationship appears to occur between sleep function and the neurologic disease, such that treatment of comorbid sleep disturbances may improve the symptoms of the neurologic disease. SUMMARY: Neurologic disorders are often associated with abnormalities of sleep. Sleep influences the severity of both epilepsy and headache, and treatment of comorbid sleep disorders may improve seizure and headache frequency. Alzheimer disease is characterized by circadian phase delay and poor nighttime sleep and is strongly associated with obstructive sleep apnea. Parkinson disease is associated with several sleep disorders, including insomnia, restless legs syndrome, rapid eye movement (REM) sleep behavior disorder, daytime hypersomnia, and sleep-disordered breathing. Hypoventilation in amyotrophic lateral sclerosis and other neuromuscular disorders often presents initially with sleep problems, and treatment with noninvasive ventilation improves survival and quality of life.

Sleep Apnea and Hypoventilation in Patients with Down Syndrome: Analysis of 144 Polysomnogram Studies.

Patients with Down syndrome (DS) are at risk for both obstructive sleep apnea (OSA) and central sleep apnea (CSA); however, it is unclear how these components evolve as patients age and whether patients are also at risk for hypoventilation. A retrospective review of 144 diagnostic polysomnograms (PSG) in a tertiary care facility over 10 years was conducted. Descriptive data and exploratory correlation analyses were performed. Sleep disordered breathing was common (seen in 78% of patients) with an average apnea-hypopnea index (AHI) = 10. The relative amount of obstructive apnea was positively correlated with age and body mass index (BMI). The relative amount of central sleep apnea was associated with younger age in the very youngest group (0-3 years). Hypoventilation was common occurring in more than 22% of patients and there was a positive correlation between the maximum CO2 and BMI. Sleep disordered breathing, including hypoventilation, was common in patients with DS. The obstructive component increased significantly with age and BMI, while the central component occurred most in the very young age group. Due to the high risk of hypoventilation, which has not been previously highlighted, it may be helpful to consider therapies to target both apnea and hypoventilation in this population.

Progression of Polysomnographic Abnormalities in Mucolipidosis II (I-Cell Disease).

ABSTRACT: Mucolipidosis II (Inclusion cell or I-cell disease) is an autosomal recessive lysosomal storage disorder clinically comparable to the mucopolysaccharidoses (MPS), characterized by progressive respiratory and neurologic deterioration. Sleep problems, especially obstructive sleep apnea (OSA) and disrupted sleep architecture, are observed in other lysosomal storage diseases but have not been described in mucolipidosis II. We report the progression of polysomnographic abnormalities in a child with mucolipidosis II, demonstrated by worsening sleep-related hypoventilation, OSA, and sleep state fragmentation despite advancing PAP therapy. Background slowing and reduction in spindle activity on limited EEG may reflect progressive CNS disease affecting thalamic neurons.

Feedback-Controlled Transcranial Alternating Current Stimulation Reveals a Functional Role of Sleep Spindles in Motor Memory Consolidation.

Transient episodes of brain oscillations are a common feature of both the waking and the sleeping brain. Sleep spindles represent a prominent example of a poorly understood transient brain oscillation that is impaired in disorders such as Alzheimer's disease and schizophrenia. However, the causal role of these bouts of thalamo-cortical oscillations remains unknown. Demonstrating a functional role of sleep spindles in cognitive processes has, so far, been hindered by the lack of a tool to target transient brain oscillations in real time. Here, we show, for the first time, selective enhancement of sleep spindles with non-invasive brain stimulation in humans. We developed a system that detects sleep spindles in real time and applies oscillatory stimulation. Our stimulation selectively enhanced spindle activity as determined by increased sigma activity after transcranial alternating current stimulation (tACS) application. This targeted modulation caused significant enhancement of motor memory consolidation that correlated with the stimulation-induced change in fast spindle activity. Strikingly, we found a similar correlation between motor memory and spindle characteristics during the sham night for the same spindle frequencies and electrode locations. Therefore, our results directly demonstrate a functional relationship between oscillatory spindle activity and cognition.

Sleep and Epilepsy.

Sleep plays an intricate role in the disease process of epilepsy. Despite the complexity of this relationship, the prognosis is a favorable one for patients presenting with sleep disorders and epilepsy. Clinicians need to be vigilant about asking about and addressing sleep complaints in patients with epilepsy. Ultimately, improving sleep and optimizing seizure control can have significant positive effects on the quality of life of these patients.

Quantitative assessment of the upper airway in infants and children with subglottic stenosis.

OBJECTIVES/HYPOTHESIS: Determine whether quantitative geometric measures and a computational fluid dynamic (CFD) model derived from medical imaging of children with subglottic stenosis (SGS) can be effective diagnostic and treatment planning tools. STUDY DESIGN: Retrospective chart and imaging review in a tertiary care hospital. METHODS: Computed tomography scans (n = 17) of children with SGS were analyzed by geometric and CFD methods. Polysomnograms (n = 15) were also analyzed. Radiographic data were age/weight flow normalized and were compared to an atlas created from radiographically normal airways. Five geometric, seven CFD, and five polysomnography measures were analyzed. Statistical analysis utilized a two-sample t test with Bonferroni correction and area under the curve analysis. RESULTS: Two geometric indices (the ratio of the subglottic to midtracheal airway, the percent relative reduction of the subglottic airway) and one CFD measure (the percent relative reduction of the hydraulic diameter of the subglottic airway) were significant for determining which children with SGS received surgical intervention. Optimal cutoffs for these values were determined. Polysomnography, the respiratory effort-related arousals index, was significant only prior to Bonferroni correction for determining which children received surgical intervention. CONCLUSIONS: Geometric and CFD variables were sensitive at determining which patients with SGS received surgical intervention. Discrete quantitative assessment of the pediatric airway was performed, yielding preliminary data regarding possible objective thresholds for surgical versus nonsurgical treatment of disease. This study is limited by its small, retrospective, single-institution nature. Further studies to validate these findings and possibly optimize treatment threshold recommendations are warranted. LEVEL OF EVIDENCE: 4 Laryngoscope, 126:1225-1231, 2016.

Lumbar Radiculopathy Confounded: Total Knee Arthroplasty Diminishes the Patellar Tendon Reflex.

STUDY DESIGN: Patellar tendon reflexes were elicited among patients who had had a unilateral total knee replacement, those planned for unilateral total knee replacement, and a cohort of controlled patients. Patellar tendon reflex (PTR) response was measured with surface electromyography. OBJECTIVE: The aim of this study was to determine if total knee arthroplasty significantly alters the PTR. SUMMARY OF BACKGROUND DATA: As part of the clinical evaluation of the spine, extremity reflexes are provoked. Reflex variation between right and left extremities can be a pathological finding in disease of the spine. It has been noted that in patients who have undergone total knee arthroplasty (TKA), the PTR is diminished on the operative side compared with the contralateral nonoperative side. PTR is part of the clinical exam when evaluating a patient for lumbar radiculopathy. METHODS: The right and left patellar tendon reflex intensities were measured by quadriceps surface electromyography in 3 groups of patients. Group 1 consisted of 21 patients with unilateral TKA who were at least 6 months postoperative. Group 2 consisted of 18 patients with unilateral severe knee arthritis indicated for TKA. Group 3, serving as the control group, included 20 patients with no evidence of knee arthritis in either knee. The average reflex response for each group was recorded and comparisons were then made between each group. RESULTS: Patients who have undergone unilateral TKA have a PTR on average of 55.1% of their contralateral uninvolved side. This is statistically significant when compared with reflexes in patients who are planned for unilateral total knee arthroplasty, 96.03% (P = 0.001) and when compared with patients without evidence for knee arthritis, 102.2% (P < 0.001). CONCLUSION: The results of this case control study show that TKAs do significantly diminish PTRs when compared with a contralateral uninvolved knee in the same patient. LEVEL OF EVIDENCE: 3.

Approach to insomnia in patients with dementia.

Insomnia occurs in one-fourth to one-third of patients with dementia, and can lead to patient and caretaker distress and early institutionalization. An array of effects from the disease, medication, behaviors, and mood issues may play a role in influencing sleep. This perplexing issue can be handled effectively with appropriate evaluation and understanding of basic sleep-wake physiology. For most patients, appropriate timing of cues, modifying behavior, and optimizing medications can improve the patient's and caregiver's quality of life. In this article, we review signs that may help the clinician recognize insomnia early and approach the issue in a logical manner.

Sleep technologists educational needs assessment: a survey of polysomnography, electroneurodiagnostic technology, and respiratory therapy education program directors.

STUDY OBJECTIVES: In this study, we assessed the community and educational needs for sleep technologists by surveying program directors of nationally accredited polysomnography, electroneurodiagnostic technology, and respiratory care educational programs. Currently, little is known about our educational capacity and the need for advanced degrees for sleep medicine technical support. METHODS: A questionnaire was developed about current and future community and educational needs for sleep technologists. The questionnaire was sent to directors of CAAHEP-accredited polysomnography and electroneurodiagnostic technology programs (associate degree and certificate programs), and directors of CoARC-accredited respiratory therapy associate degree and bachelor degree programs (n = 358). Qualitative and quantitative data were collected via an internet survey tool. Data analysis was conducted with the IBM SPSS statistical package and included calculating means and standard deviations of the frequency of responses. Qualitative data was analyzed and classified based on emerging themes. RESULTS: One hundred seven of 408 program directors completed the survey. Seventy-four percent agreed that demand for qualified sleep technologists will increase, yet 50% of those surveyed believe there are not enough educational programs to meet the demand. Seventy-eight percent of those surveyed agreed that the educational requirements for sleep technologists will soon increase; 79% of those surveyed believe sleep centers have a need for technologists with advanced training or specialization. CONCLUSIONS: Our study shows educators of associate and certificate degree programs believe there is a need for a bachelor's degree in sleep science and technology.

Low frequency filtering of nasal pressure channel causes loss of flow limitation.

STUDY OBJECTIVES: The objective of this clinical vignette is to explore whether changes in low filter settings for respiratory waveforms have a clinically significant effect on patient management of obstructive sleep apnea (OSA). DESIGN: This is a case report. METHODS: We collected data from a continuous positive airway pressure (CPAP) titration polysomnogram (PSG) performed in our university based sleep laboratory. We reviewed the flow signal using low frequency filter settings of 0.0, 0.1, 0.3, and 0.5 Hz. RESULTS: We noted that a change in the low frequency filter for respiratory flow caused a change in the appearance of an otherwise flattened waveform indicating flow limitation to no longer appear flat. CONCLUSION: We noted that indiscriminate use of the low frequency filter for nasal pressure and flow estimate channels may lead to greater difficulty recognizing respiratory flow limitation.

Nocturnal temazepam in the treatment of narcolepsy.

Narcolepsy is characterized by fragmented nighttime sleep and frequent arousals. One treatment approach to improve daytime symptoms is to consolidate nighttime sleep through decreasing arousals. Sodium oxybate is the first FDA-approved medication that follows this approach. Benzodiazepines are known to also decrease arousals at night and have been proposed to help with sleep fragmentation. In one report, clonazepam was shown to improve cataplexy in 10 of 14 patients with narcolepsy although no improvement in daytime sleepiness was reported. The purpose of this case review was to share our experience of nocturnal temazepam on daytime sleepiness in patients with narcolepsy as measured by the Epworth Sleepiness Scale (ESS).