Michael J. Thorpy

International Classification of Sleep Disorders

Two major sleep classifications include that of the American Psychiatric Association’s Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-V) which includes a section entitled ‘sleep–wake disorders’ and the International Classification of Sleep Disorders third edition (ICSD3) of the American Academy of Sleep Medicine. The ICSD3 has significant changes in the overall classification from previous versions. The insomnia category has changed to a single major disorder called chronic insomnia disorder, and a short-term insomnia disorder for symptoms that are present less than 3 months. The sleep-related breathing disorders have been expanded into four main sections: obstructive sleep apnea disorders, central sleep apnea disorders, sleep-related hypoventilation disorders, and sleep-related hypoxemia disorder. Snoring and catathrenia are regarded as isolated symptoms or normal variants. The central disorders of hypersomnolence section include two forms of narcolepsy type 1 (NT1) and narcolepsy type 2 (NT2). Other hypersomnolence disorders include idiopathic hypersomnia and Kleine–Levin syndrome. The circadian rhythm disorders are largely unchanged from previous classifications. The parasomnias include three main groups: NREM-related parasomnias, REM-related parasomnias, and another parasomnia section. The final section is sleep-related movement disorders section which included restless legs syndrome, periodic limb movement disorder, and sleep-related leg cramps as well as other movement disorders.

Predictive value of Müller maneuver in selection of patients for uvulopalatopharyngoplasty.

Uvulopalatopharyngoplasty (UPPP) is an effective treatment for some patients with obstructive sleep apnea syndrome (OSAS). A major difficulty has been to select those patients who will have a good response to UPPP.

Evidence-Based Recommendations for the Assessment and Management of Sleep Disorders in Older Persons

Sleep‐related disorders are most prevalent in the older adult population. A high prevalence of medical and psychosocial comorbidities and the frequent use of multiple medications, rather than aging per se, are major reasons for this. A major concern, often underappreciated and underaddressed by clinicians, is the strong bidirectional relationship between sleep disorders and serious medical problems in older adults. Hypertension, depression, cardiovascular disease, and cerebrovascular disease are examples of diseases that are more likely to develop in individuals with sleep disorders. Conversely, individuals with any of these diseases are at a higher risk of developing sleep disorders. The goals of this article are to help guide clinicians in their general understanding of sleep problems in older persons, examine specific sleep disorders that occur in older persons, and suggest evidence‐ and expert‐based recommendations for the assessment and treatment of sleep disorders in older persons. No such recommendations are available to help clinicians in their daily patient care practices. The four sections in the beginning of the article are titled, Background and Significance, General Review of Sleep, Recommendations Development, and General Approach to Detecting Sleep Disorders in an Ambulatory Setting. These are followed by overviews of specific sleep disorders: Insomnia, Sleep Apnea, Restless Legs Syndrome, Circadian Rhythm Sleep Disorders, Parasomnias, Hypersomnias, and Sleep Disorders in Long‐Term Care Settings. Evidence‐ and expert‐based recommendations, developed by a group of sleep and clinical experts, are presented after each sleep disorder.

Classification of Sleep Disorders

The classification of sleep disorders is necessary to discriminate between disorders and to facilitate an understanding of symptoms, etiology, and pathophysiology that allows for appropriate treatment. The earliest classification systems, largely organized according to major symptoms (insomnia, excessive sleepiness, and abnormal events that occur during sleep), were unable to be based on pathophysiology because the cause of most sleep disorders was unknown. These 3 symptom-based categories are easily understood by physicians and are therefore useful for developing a differential diagnosis. The International Classification of Sleep Disorders, version 2, published in 2005 and currently undergoing revision, combines a symptomatic presentation (e.g., insomnia) with 1 organized in part on pathophysiology (e.g., circadian rhythms) and in part on body systems (e.g., breathing disorders). This organization of sleep disorders is necessary because of the varied nature and because the pathophysiology for many of the disorders is still unknown. The International Classification of Sleep Disorders, version 2 provides relevant diagnostic and epidemiological information on sleep disorders to more easily differentiate between the disorders.

Endoscopic observations of obstructive sleep apnea in children with anomalous upper airways: predictive and therapeutic value

This report describes the variability in the mechanism of upper airway collapse seen in children with obstructive apnea secondary to craniofacial anomalies. Emphasis is on the nasopharyngoscopic observation of the upper airway and the accurate assessment of the site and mechanism of obstruction in order to prescribe the appropriate treatment.

Delayed diagnosis of narcolepsy: characterization and impact

Narcolepsy, a chronic neurologic condition resulting from dysregulation of the sleep-wake cycle, usually has an onset at an early age. However, a long delay until diagnosis has been consistently reported in the literature across countries and several publications have focused on characterizing this delay. Most studies report a mean delay to diagnosis of up to 15 years, with individual cases of >60 years, although a trend over time toward a shorter diagnostic delay has been suggested. While variables associated with this delay have been identified, a lack of symptom recognition resulting in misdiagnosis prior to reaching the narcolepsy diagnosis is the likely underlying reason. This lack of symptom recognition is especially relevant considering the high comorbidity burden that has been shown in patients with narcolepsy as some disorders manifest with symptoms that overlap with narcolepsy. A consequence of delayed diagnosis is delayed treatment, which affects the burden of disease. Substantial detrimental effects on health-care resource utilization, employment, and quality of life have been described after narcolepsy onset and prior to the diagnosis of narcolepsy. This review highlights the importance of closing the diagnostic gap by expanding awareness of narcolepsy and its symptoms.

Current concepts in the etiology, diagnosis and treatment of narcolepsy

Background and purpose: Narcolepsy is the most common neurologic cause of excessive daytime sleepiness. Rapid eye movement (REM) sleep phenomena such as cataplexy, sleep paralysis and hypnagogic hallucinations can also occur. Cataplexy, a sudden bilateral loss of muscle tone usually brought on by emotional reactions such as excitement, is essentially unique to narcolepsy. Narcolepsy, which has a prevalence of 0.02-0.05% in the US, has a profound influence on the quality of life and safety of affected individuals.Patients and methods: The most characteristic and striking physiological abnormality observed in narcolepsy is the sleep-onset REM, or the occurrence of REM sleep at, or within 20 min of, the onset of sleep. The diagnosis is established by nocturnal polysomnography, and the Multiple Sleep Latency Test (MSLT).Results: Familial cases of narcolepsy have been reported, with the risk to first-degree relatives estimated at 1-2%; however, most cases are sporadic and the syndrome is generally believed to involve environmental factors acting on a specific genetic background. The observation of an HLA association in narcolepsy suggests that autoimmunity may play a role in the disorder. However, extensive studies have failed to find convincing evidence of an autoimmune process. Patients with narcolepsy have recently been shown to be deficient in hypocretin, also called orexin, in the cerebrospinal fluid and have a reduction in hypocretin cells in the lateral hypothalamus. This suggests that hypocretins could potentially provide a novel therapeutic approach to the treatment of narcolepsy.Conclusions: Although non-pharmacologic measures can be helpful in treating narcolepsy, most patients require pharmacotherapy that includes psychostimulants or modafinil. Cataplexy is controlled by tricyclic antidepressants or selective serotonin reuptake inhibitors.

Multiple Sclerosis and narcolepsy: Possible similar genetic susceptibility

We have studied 2 patients with multiple sclerosis and narcolepsy. In both patients, the DR 2 histocompatibility antigen was positive. In each of the patients, the diagnosis of narcolepsy was confirmed by polygraphic testing.

Clinical and practical considerations in the pharmacologic management of narcolepsy

Despite published treatment recommendations and the availability of approved and off-label pharmacologic therapies for narcolepsy, the clinical management of this incurable, chronic neurologic disorder remains challenging. While treatment is generally symptomatically driven, decisions regarding which drug(s) to use need to take into account a variety of factors that may affect adherence, efficacy, and tolerability. Type 1 narcolepsy (predominantly excessive daytime sleepiness with cataplexy) or type 2 narcolepsy (excessive daytime sleepiness without cataplexy) may drive treatment decisions, with consideration given either to a single drug that targets multiple symptoms or to multiple drugs that each treat a specific symptom. Other drug-related characteristics that affect drug choice are dosing regimens, tolerability, and potential drug-drug interactions. Additionally, the patient should be an active participant in treatment decisions, and the main symptomatic complaints, treatment goals, psychosocial setting, and use of lifestyle substances (ie, alcohol, nicotine, caffeine, and cannabis) need to be discussed with respect to treatment decisions. Although there is a lack of narcolepsy-specific instruments for monitoring therapeutic effects, clinically relevant subjective and objective measures of daytime sleepiness (eg, Epworth Sleepiness Scale and Maintenance of Wakefulness Test) can be used to provide guidance on whether treatment goals are being met. These considerations are discussed with the objective of providing clinically relevant recommendations for making treatment decisions that can enhance the effective management of patients with narcolepsy.

Clinical Features, Diagnosis and Treatment of Narcolepsy

Narcolepsy is characterized by excessive daytime sleepiness, cataplexy, sleep paralysis, and hypnagogic/hypnapompic hallucinations. It is currently believed to be caused by a deficiency in hypocretin-producing neurons in the lateral hypothalamus. Diagnosis is by the presence of appropriate clinical symptoms and confirmation by a polysomnogram followed by a multiple sleep latency test. There are nonpharmacologic (eg, scheduled naps, following proper sleep hygiene) and symptom-directed pharmacologic (eg, central nervous system stimulants, modafinil, sodium oxybate, certain antidepressants) treatments that are usually used together for optimal management of narcolepsy.