Diagnostic Criteria and Assessment of Sleep Disorders

C H A P T E R

1 Diagnostic Criteria and Assessment of Sleep Disorders Christina Jayne Bathgate and Jack D. Edinger Department of Medicine, National Jewish Health, Denver, CO, United States

O U T L I N E Introduction

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Current Diagnostic Classification Systems

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Psychological, Behavioral, and Laboratory Assessments to Aid Diagnosis 16 Clinical History 16 Daily Self-Monitoring 17 Self-Report Questionnaires 17 Actigraphy 17 Polysomnography 19 Multiple Sleep Latency Test 20 Maintenance of Wakefulness Test 20

Clinical Features and Diagnostic Considerations for Sleep/Wake Disorders 10 Insomnia 10 Hypersomnolence 11 Narcolepsy 12 Breathing-Related Sleep Disorders 13 Circadian Rhythm Sleep Wake Disorders 14 Parasomnias 14 Movement-Related Sleep Disorders 16

Areas for Future Research

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Conclusion

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References

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INTRODUCTION Sleep is essential for survival and plays a key role in maintaining our physical and mental health. Normal human sleep can be categorized into two states, as defined by a cortical electroencephalogram (EEG) readings, typically collected during a polysomnography Handbook of Sleep Disorders in Medical Conditions DOI: https://doi.org/10.1016/B978-0-12-813014-8.00001-9

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© 2019 Elsevier Inc. All rights reserved.

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1. DIAGNOSTIC CRITERIA AND ASSESSMENT OF SLEEP DISORDERS

(PSG) sleep test: nonrapid eye movement (NREM, pronounced “non-REM”) sleep and rapid eye movement (REM) sleep. NREM sleep produces a variably synchronous EEG that is associated with low muscle tone and minimal psychological activity1 and is subdivided into three progressively deeper sleep stages: N1 (or “Stage 1” sleep), N2 (or “Stage 2” sleep), and N3 (or “Stage 3” sleep, commonly referred to as slow wave sleep). On the other hand, REM sleep produces a desynchronized EEG with muscular atonia and episodic bursts of REM and is not typically subdivided, except possibly for research purposes (e.g., tonic vs phasic REM).1 Table 1.1 provides a brief outline of the four sleep stages and general characteristics often associated with each stage. Sleep begins in NREM before the first REM period occurs, typically 80 120 minutes after sleep onset. Throughout the sleep TABLE 1.1 Sleep Stages and General Characteristics Sleep Stage

American Academy of Sleep Medicine Terminology

Characteristics

Nonrapid eye N1 movement Stage 1

The stage between wakefulness and sleep, and the lightest stage of Nonrapid eye movement sleep. Slow eye movements are often present, and muscles may remain somewhat active. Electroencephalogram shows a transition from relatively unsynchronized beta and gamma brain waves (12 30 and 25 100 Hz, respectively) to more synchronized slower alpha waves (8 13 Hz) and theta waves (4 7 Hz)

Nonrapid eye N2 movement Stage 2

Muscle activity further decreases, and conscious awareness of the surrounding environment begins to fade. Electroencephalograms continue to show theta waves (as in N1), with the addition of sleep spindles (short bursts of brain activity, 12 14 Hz) and K-complexes (short negative highvoltage peaks, followed by a slower positive complex and then a final negative peak)

Nonrapid eye N3 movement Stage 3, or “Slow Wave Sleep”

The deepest, most restorative stage of Nonrapid eye movement sleep. Larger amount of synchronized, slow wave electroencephalogram activity (delta waves, 1 2 Hz) compared to the other stages. The brain becomes less responsive to external stimuli; this tends to be the hardest stage from which to awaken. Previously this stage was divided into two sleep stages (stages 3 and 4) but was consolidated into a singular N3 stage in the 2007 American Academy of Sleep Medicine scoring guidelines2

Rapid eye movement

Rapid side-to-side movements of closed eyes, breathing tends to be more rapids and irregular, with heart rate and blood pressure increasing to near waking levels. Virtual absence of muscle tone and skeletal muscle activity, known as atonia, is present. Electroencephalogram shows low-amplitude, mixed frequency brain waves similar to what is seen during wakefulness (e.g., alpha, beta, and theta waves); these appear as a “saw-tooth” brain wave pattern

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CURRENT DIAGNOSTIC CLASSIFICATION SYSTEMS

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period, we continue to cycle through the NREM to REM sleep stages approximately every 90 minutes, with NREM sleep decreasing and REM sleep increasing over time. This suggests that the beginning of our total sleep period tends to contain longer periods of deeper, more restorative slow wave sleep, and as our sleep period progresses, more time will be spent in REM sleep, where dreams typically occur.

CURRENT DIAGNOSTIC CLASSIFICATION SYSTEMS There are currently three main diagnostic classification systems used widely by clinicians to classify sleep disorders. The International Classification of Sleep Disorders, Third Edition (ICSD-3),3 the Sleep Disorders section of the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5),4 and the International Classification of Diseases, Tenth Edition (ICD-10).5 A schematic crosswalk comparing the specific diagnostic labels used across these three classification systems is presented in Table 1.2. The ICSD-3 is currently the most advanced classification of sleep disorders and is intended to be used by sleep experts. This American Academy of Sleep Medicine publication describes nearly 70 highly specific diagnoses classified into six main clinical categories: insomnia, sleep-related breathing disorders, central disorders of hypersomnolence, circadian rhythm sleep wake disorders, parasomnias, and sleep-related movement disorders. It also contains a supplemental “Other” category to assist with assigning codes to conditions that do not otherwise fit into any of the above categories, and two appendices (sleep-related medical and neurological disorders, and ICD-10 coding for substanceinduced sleep disorders). Pediatric conditions are fully merged within each of the clinical categories, except for the obstructive sleep apnea (OSA) section, which provides a specific delineation between adult and pediatric OSA. The ICSD-3 provides general diagnostic criteria for each condition, and if indicated, will outline variations for pediatric diagnosis and developmental issues pertaining to older adults. The DSM-5 is a classification system intended for use by mental health and general medical clinicians who are not experts in sleep medicine; however, this most recent revision reflects an overall greater concordance with the ICSD-3 compared to previous editions. This American Psychiatric Association publication features an entire “Sleep Wake Disorders” section, outlining 10 disorders or disorder groups: insomnia disorder, hypersomnolence disorder, narcolepsy, breathing-related sleep disorders, circadian rhythm sleep wake disorders, NREM sleep arousal disorders, nightmare disorder, REM sleep behavior disorder, restless legs syndrome (RLS), and substance/medicationinduced sleep disorder. It also contains the additional diagnostic categories, “other specified” or “unspecified” which can be applied to insomnia disorder, hypersomnolence disorder, and a more general sleep wake disorder to assist with assigning codes to conditions that do not otherwise fit into any of the above categories. Similar to the ICSD-3, the DSM-5 does not separate pediatric and adult diagnoses; rather, it provides general diagnostic criteria for each condition and outlines specific developmental features that may be present. The ICD-10 is another classification system commonly used to classify sleep conditions. This World Health Organization publication is far less complex than the ICSD-3 schema

I. GENERAL ISSUES

TABLE 1.2 Sleep Disorder Diagnoses by Classification System Diagnostic Statistical Manual of Mental Disorders, Fifth Edition

International Classification of Sleep International Classification of Diseases, Tenth Disorders, Third Edition Edition, Clinical Modification

INSOMNIA Insomnia disorder Specify if: • Episodic • Persistent • Recurrent Other specified Insomnia disorder Unspecified insomnia disorder

Chronic insomnia disorder Short-term insomnia disorder Other insomnia disorder Isolated symptoms and normal variants • Excessive time in bed • Short sleeper

G47.0 Insomnia unspecified G47.01 Insomnia due to medical condition G47.09 Other insomnia F51.01 Primary insomnia F51.02 Adjustment insomnia F51.03 Paradoxical insomnia F51.04 Psychophysiologic insomnia F51.05 Insomnia due to other mental disorder F51.09 Other insomnia not due to a substance or known physiological condition Z73.810 Behavioral insomnia of childhood, sleep-onset association type Z73.811 Behavioral insomnia of childhood, limit setting type Z73.812 Behavioral insomnia of childhood, combined type Z73.819 Behavioral insomnia of childhood, unspecified type

HYPERSOMNOLENCE AND NARCOLEPSY Hypersomnolence disorder Specify if: • With mental disorder • With medical condition • With another sleep disorder Specify if: • Acute • Subacute • Persistent Specify current severity: • Mild • Moderate • Severe

Narcolepsy Specify whether: • Narcolepsy without cataplexy but with hypocretin deficiency • Narcolepsy with cataplexy but without hypocretin deficiency • Autosomal dominant cerebellar ataxia, deafness, and narcolepsy • Autosomal dominant narcolepsy, obesity, and type 2 diabetes • Narcolepsy secondary to another medical condition • Specify current severity: • Mild • Moderate • Severe Other specified hypersomnolence disorder

Narcolepsy type I Narcolepsy type II Idiopathic hypersomnia Kleine Levin syndrome Hypersomnia due to a medical disorder Hypersomnia due to a medication or substance Hypersomnia associated with a psychiatric disorder Insufficient sleep syndrome Isolated symptoms and normal variants • Long sleeper

G47.10 Hypersomnia unspecified G47.11 Idiopathic hypersomnia with long sleep time G47.12 Idiopathic hypersomnia without long sleep time G47.13 Recurrent hypersomnia G47.14 Hypersomnia due to medical condition G47.19 Other hypersomnia F51.1 Hypersomnia not due to a substance or known psychological condition F51.11 Primary hypersomnia F51.12 Insufficient sleep syndrome F51.13 Hypersomnia due to other mental disorder F51.19 Other hypersomnia not due to a substance or known physiological condition G47.411 Narcolepsy with cataplexy G47.419 Narcolepsy without cataplexy, not otherwise specified G47.421 Narcolepsy in conditions classified elsewhere with cataplexy G47.429 Narcolepsy in conditions classified elsewhere without cataplexy

Unspecified hypersomnolence disorder

(Continued)

TABLE 1.2 (Continued) Diagnostic Statistical Manual of Mental Disorders, Fifth Edition

International Classification of Sleep International Classification of Diseases, Tenth Disorders, Third Edition Edition, Clinical Modification

BREATHING-RELATED SLEEP DISORDERS Obstructive sleep apnea hypopnea Specify current severity: • Mild • Moderate • Severe Central sleep apnea Specify whether: • Idiopathic central sleep apnea • Cheyne Stokes breathing • Central sleep apnea comorbid with opioid use Sleep-related hypoventilation Specify whether: • Idiopathic hypoventilation • Congenital central alveolar hypoventilation • Comorbid sleep-related hypoventilation

Obstructive sleep apnea disorders • Obstructive sleep apnea, adult • Obstructive sleep apnea, pediatric Central sleep apnea syndrome • Central sleep apnea with Cheyne Stokes breathing • Central sleep apnea due to a medical disorder without Cheyne Stokes breathing • Central sleep apnea due to high-altitude periodic breathing • Central sleep apnea due to medication or substance • Primary central sleep apnea • Primary central sleep apnea of infancy • Primary central sleep apnea of prematurity • Treatment-emergent central sleep apnea

G47.30 Sleep apnea unspecified G47.31 Primary central sleep apnea G47.32 High-altitude periodic breathing G47.33 Obstructive sleep apnea (adult) (pediatric) G47.34 Idiopathic sleep related nonobstructive alveolar hypoventilation G47.35 Congenital central alveolar hypoventilation syndrome G47.36 Sleep-related hypoventilation in conditions classified elsewhere G47.37 Central sleep apnea in conditions classified elsewhere G47.39 Other sleep apnea R06.3 Cheyne Stokes breathing pattern R06.00 Dyspnea, unspecified R06.09 Other forms of dyspnea R06.3 Periodic breathing R06.83 Snoring R06.89 Other abnormalities of breathing R06.81 Apnea, not elsewhere specified

Sleep-related hypoventilation disorders • Obesity hypoventilation syndrome • Congenital central alveolar hypoventilation syndrome • Late-onset central hypoventilation with hypothalamic dysfunction • Idiopathic central alveolar hypoventilation • Sleep-related hypoventilation due to medication or substance • Sleep-related hypoventilation due to medical disorder • Sleep-related hypoxemia disorder Isolated symptoms and normal variants Snoring Catathrenia

CIRCADIAN RHYTHM SLEEP WAKE DISORDERS Delayed sleep phase type (specify if familial or if overlapping with non-24-h sleep wake type) Advanced sleep phase type (specify if familial) Irregular sleep-wake type Non-24-h sleep wake type Shift work type Unspecified type

Delayed sleep wake phase disorder Advanced sleep wake phase disorder Irregular sleep wake rhythm Non-24-h sleep wake rhythm disorder Shift work disorder Jet lag disorder

G47.20 Circadian rhythm sleep disorder, unspecified type G47.21 Delayed sleep phase type G47.22 Advanced sleep phase type G47.23 Irregular sleep wake type G47.24 Free running type G47.25 Jet lag type G47.26 Shift work type

(Continued)

TABLE 1.2 (Continued) Diagnostic Statistical Manual of Mental Disorders, Fifth Edition

International Classification of Sleep International Classification of Diseases, Tenth Disorders, Third Edition Edition, Clinical Modification

Specify if any of the above circadian disorders are • Episodic • Persistent • Recurrent Other specified sleep wake disorder Unspecified sleep wake disorder

Circadian rhythm sleep wake disorder not otherwise specified

G47.27 Circadian rhythm sleep disorder in conditions classified elsewhere G47.29 Other circadian rhythm sleep disorder

NREM-related parasomnias • Disorders of arousal from NREM sleep • Confusional arousals • Sleepwalking • Sleep terrors • Sleep-related eating disorder

G47.50 Parasomnia unspecified G47.51 Confusional arousals G47.52 REM sleep behavior disorder G47.53 Recurrent isolated sleep paralysis G47.54 Parasomnia in conditions classified elsewhere G47.59 Other parasomnia F51.3 Sleepwalking (somnambulism) F51.4 Sleep terrors (night terrors) F51.5 Nightmare disorder

PARASOMNIAS Nonrapid eye movement sleep arousal disorders Specify whether: • Sleepwalking type (specify if with sleep-related eating, or with sleeprelated sexual behavior/sexsomnia) • Sleep terror type Nightmare disorder Specify if: • During sleep onset • Specify if: • With associated nonsleep disorder • With associated other medical condition • With associated other sleep disorder Specify if: • Acute • Subacute • Persistent Specify current severity: • Mild • Moderate • Severe Rapid eye movement sleep behavior disorder

REM-related parasomnias • REM sleep behavior disorder • Recurrent isolated sleep paralysis • Nightmare disorder Other • • • •

parasomnias Exploding head syndrome Sleep-related hallucinations Sleep enuresis Parasomnia due to medical disorder • Parasomnia due to medication or substance • Parasomnia, unspecified

Isolated symptoms and normal variants Sleep talking

SLEEP-RELATED MOVEMENT DISORDERS Restless legs syndrome

Restless legs syndrome Periodic limb movement disorder Sleep-related leg cramps Sleep-related bruxism Sleep-related rhythmic movement disorder Benign sleep myoclonus of infancy Propriospinal myoclonus at sleep onset Sleep-related movement disorder due to medical disorder Sleep-related movement disorder due to medication or substance Sleep-related movement disorder, unspecified

G25.81 G47.61 G47.62 G47.63 G47.69

Restless legs syndrome Periodic limb movement disorder Sleep-related leg cramps Sleep-related bruxism Other sleep-related movement disorders

Isolated symptoms and normal variants • Excessive fragmentary myoclonus

(Continued)

TABLE 1.2 (Continued) Diagnostic Statistical Manual of Mental Disorders, Fifth Edition

International Classification of Sleep International Classification of Diseases, Tenth Disorders, Third Edition Edition, Clinical Modification • Hypnagogic foot tremor and alternating leg muscle activation • Sleep starts (hypnic jerks)

OTHER Substance/Medication-induced sleep disorder Specify whether: • Insomnia type • Daytime sleepiness type • Parasomnia type • Mixed type Specify if: • With onset during intoxication • With onset during discontinuation/withdrawal

Other sleep disorder

G47.8 Other sleep disorders G47.9 Sleep disorder, unspecified F51.8 Other sleep disorders not due to a substance or known physiological condition F51.9 Sleep disorder not due to a substance or known physiological condition, unspecified Z72.820 Sleep deprivation Z72.821 Inadequate sleep hygiene Z73.8 Other problems related to life management difficulty Drug-induced sleep disorders F11.182 Opioid abuse with opioid-induced sleep disorder F11.282 Opioid dependence with opioid-induced sleep disorder F11.982 Opioid use, unspecified with opioidinduced sleep disorder F13.182 Sedative, hypnotic or anxiolytic abuse with sedative, hypnotic or anxiolytic-induced sleep disorder F13.282 Sedative, hypnotic or anxiolytic dependence with sedative, hypnotic, or anxiolytic-induced sleep disorder F13.982 Sedative, hypnotic, or anxiolytic use, unspecified with sedative, hypnotic, or anxiolytic-induced sleep disorder F14.182 Cocaine abuse with cocaine-induced sleep disorder F14.282 Cocaine dependence with cocaineinduced sleep disorder F14.982 Cocaine use, unspecified with cocaineinduced sleep disorder F15.182 Other stimulant abuse with stimulantinduced sleep disorder F15.282 Other stimulant dependence with stimulant-induced sleep disorder F15.982 Other stimulant use, unspecified with stimulant-induced sleep disorder F19.182 Other psychoactive substance abuse with psychoactive substance-induced sleep disorder F19.21 Other psychoactive substance dependence, in remission F19.282 Other psychoactive substance dependence with psychoactive substanceinduced sleep disorder F19.982 Other psychoactive substance use, unspecified with psychoactive substanceinduced sleep disorder

Note: The International Classification of Diseases, Tenth Edition, Clinical Modification “G” codes refer organic sleep disorders, “F” codes refer to nonorganic sleep disorders, “R” codes refer to symptoms, signs, and abnormal clinical and laboratory findings, not elsewhere classified, and “Z” codes refer to factors influencing health status and contact with health services.

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and groups sleep disorders into global categories of organic and nonorganic origin. Organic sleep disorders, which are classified using “G” codes, focus on medically/neurologically based sleep disorders and diseases of the nervous system, such as sleep apnea or narcolepsy. Nonorganic sleep disorders, which are classified using “F” codes, focus on mental and behavioral disorders, and are organized into three types of conditions: dyssomnias, parasomnias, and sleep disorders secondary to medical and psychiatric disorders. Dyssomnias refer to a predominant disturbance in the amount, quality, or timing of sleep due to emotional causes, such as nonorganic insomnia, nonorganic hypersomnia, or nonorganic disorder of sleep wake schedule. Parasomnias refer to abnormal episodic events occurring during sleep, such as sleepwalking, sleep terrors, teeth grinding, bed wetting, or nightmares. There are also sleep-related conditions classified using “R” and “Z” codes. “R” codes focus on symptoms, signs, and abnormal clinical and laboratory findings not elsewhere classified, such as Cheyne Stokes breathing pattern or snoring. “Z” codes focus on factors influencing health status and contact with health services, such as sleep deprivation or inadequate sleep hygiene. Similar to the ICSD-3 and DSM-5, the ICD-10 does not separate pediatric and adult sleep diagnoses, with the exception of OSA and the behavioral insomnia of childhood diagnoses.

CLINICAL FEATURES AND DIAGNOSTIC CONSIDERATIONS FOR SLEEP/WAKE DISORDERS Despite the existence of several classification methods used to diagnosis sleep disorders, our goal herein is to provide a brief description of each sleep disorder using the DSM-5 criteria as an overarching framework, since this classification system is intended for general medical clinicians and mental health professionals that may not necessarily be experts in sleep medicine. Diagnostic categories covered in this chapter will include insomnia, hypersomnolence, narcolepsy, breathing-related sleep disorders, circadian rhythm sleep disorders, parasomnias, and movement-related sleep disorders.

Insomnia Insomnia disorder is characterized by difficulties falling or staying asleep and/or waking up earlier than desired with an inability to fall back asleep. The sleeping disturbance must occur at least 3 nights per week, for at least 3 months, and persist despite having an adequate opportunity for sleep. It must also cause the individual significant daytime impairment in social, occupational, educational, behavioral, or other important areas of function and cannot be better explained by another sleep wake disorder (e.g., a breathing-related sleep disorder), the physiological effects of a substance, or a coexisting medical or mental health condition. Insomnia is considered episodic if the symptoms last for at least 1 month but less than 3 months, persistent if the symptoms last 3 months of longer, and/or recurrent if two (or more) episodes occur within the space of 1 year. Insomnia that occurs in the context of another psychological or medical disorder is considered comorbid. Common comorbid conditions include cardiovascular diseases, metabolic

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disorders, autoimmune conditions, chronic pain, anxiety, and depression.4,6,7 Among a large sample of patients with at least one physician identified chronic condition (hypertension, diabetes, congestive heart failure, myocardial infarction, or depression), 34% reported mild insomnia and 16% reported severe insomnia.8 Insomnia was not only comorbid with these conditions at baseline but persisted despite receiving treatment for these concerns, such that at a 2-year follow-up, 59% of patients with mild insomnia at baseline and 83% with severe insomnia at baseline continued to report sleep problems.8 This suggests that insomnia should be considered an important treatment target among clinicians, as insomnia symptoms do not always remit during treatment of a comorbid condition. Of the various aforementioned sleep difficulties, trouble maintaining sleep is the most common, followed by trouble falling asleep; however, patients will often present with a combination of these symptoms.4 Insomnia tends to affect women more than men9,10 and is more common in older adults.10 Research has shown that an average sleep-onset latency or middle-of-the-night wake time of 20 minutes maximizes the sensitivity and specificity for insomnia classification among individuals with insomnia compared to normal sleepers.11

Hypersomnolence Hypersomnolence disorder (sometimes referred to as “hypersomnia”) is characterized by self-reported excessive sleepiness despite a main sleep period lasting at least 7 hours. Individuals may exhibit an excessive quantity of sleep or have an increased propensity to sleep during wakefulness (e.g., recurrent periods of sleep or lapses into sleep within the same day). Individuals often have trouble being fully awake after an abrupt awakening, which is also referred to as sleep inertia or “sleep drunkenness.” This sleeping disturbance must occur at least three times per week, for at least 3 months, and cause the individual significant distress or impairment in cognitive, social, occupational, or other important areas of function. Furthermore, the hypersomnolence cannot be better explained by or attributable to another sleep wake disorder (e.g., narcolepsy), the physiological effects of a substance, or a coexisting medical or mental health condition. The DSM-5 also provides guidance on specifying whether the hypersomnolence occurs with a mental disorder, with a medical condition, and/or with another sleep disorder, the acuity and persistence of the concern, and the severity of the current concern. Of the various aforementioned sleep wake difficulties, approximately 80% of individuals with hypersomnolence report nonrestorative sleep or difficulties waking up in the morning, and 36% 50% report having sleep inertia.4 Hypersomnolence tends to affect men and women equally12 and is comorbid with a number of medical and mental health conditions, including Parkinson’s disease,13,14 Alzheimer’s disease,13 multiple system atrophy,13 and depressive disorders.15 Hypersomnolence has a progressive onset; symptoms tend to emerge between the ages of 15 and 25.4 Nocturnal PSG shows that individuals with hypersomnolence have a short sleep latency, normal to prolonged sleep duration, and they tend to have a sleep efficiency (total sleep time/time in bed) .90%. When using a multiple sleep latency test (MSLT), the average sleep latency is typically less than 10 minutes, and the transition to REM sleep within 20 minutes of sleep may be present but occurs less than twice during the typical four or five MSLT napping periods.4

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Narcolepsy Narcolepsy is characterized by a recurrent, irrepressible need for sleep in the form of daytime naps or lapses into sleep, occurring at least 3 times per week, for at least 3 months. Distinct from hypersomnolence disorder, individuals with narcolepsy must also exhibit at least one of the following: cataplexy episodes (i.e., a sudden loss of muscle tone usually in response to strong emotion) occurring at least a few times a month, a hypocretin deficiency [measured using cerebrospinal fluid (CSF) hypocretin-1 level ,1/3 of normal or # 110 pg/mL if a Stanford reference sample is used for radioimmunoassay], and/or a short-onset REM period (SOREMP) # 15 minutes using nocturnal PSG or a MSLT showing a mean sleep latency # 8 minutes and two or more SOREMPs. With regard to SOREMPs, a cutoff of 15 minutes indicates that the individual is going into a REM sleep period faster than what is typical in individuals without sleep complaints. The DSM-5 also provides guidance on specifying among five different types of narcolepsy. Narcolepsy without cataplexy but with hypocretin deficiency is characterized by meeting all the narcolepsy diagnostic criteria except cataplexy. Narcolepsy with cataplexy but without hypocretin deficiency is characterized by meeting all the narcolepsy diagnostic criteria except the individual has normal hypocretin levels. Autosomal dominant cerebellar ataxia, deafness, and narcolepsy is caused by mutations on exon 21 DNA cytosine-5-methyltranferase-1; onset for this subtype typically occurs between ages of 30 and 40 years and is characterized by low-to-intermediate CSF hypocretin-1 levels, deafness, cerebellar ataxia, and eventually dementia. Autosomal dominant narcolepsy, obesity, and type 2 diabetes are associated with a mutation in the myelin oligodendrocyte glycoprotein gene and is characterized by having low CSF hypocretin-1 levels with narcolepsy, obesity, and type 2 diabetes. Narcolepsy secondary to another medical condition is characterized as narcolepsy that is secondary to a traumatic or infectious medical condition (e.g., Whipple’s disease, sarcoidosis) or a tumoral destruction of hypocretin neurons. The DSM-5 also provides guidance on specifying the severity of the current concern. One commonality among the different narcolepsy subtypes is that the affected individual will experience excessive sleepiness that results in recurrent daytime naps or lapses into sleep. When cataplexy is present, it will often appear as a sudden, bilateral loss of muscle tone precipitated by emotions, such as laughter or joking, and can last as little as a few seconds or extend to minute-long episodes. During cataplexy, individuals are both awake and aware. Narcolepsy tends to affect men and women equally and is highly heritable; when an individual’s first degree biological relative has narcolepsy, there is a 10- to 40-fold increased risk that the individual will also have narcolepsy.16 Compared to individuals without narcolepsy, those who have narcolepsy (with or without cataplexy) are 3.8 times more likely to have a mental disorder, 3.7 times more likely to have nervous system complications, 3.5 times more likely to have a musculoskeletal problem, 2.7 times more likely to have a digestive illness, and 2.2 times more likely to have a genitourinary illness.17 Cell loss of hypothalamic hypocretin (orexin)-producing cells, which causes hypocretin deficiency, tends to be autoimmune related, and approximately 90% 99% of people (99% of Caucasians) carry HLA-DQB1*06:02 allele.4 Thus, checking for DQB1*06:02 prior to a lumbar puncture to determine CSF hypocretin-1 immunoreactivity may be useful when making a diagnosis.4

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Breathing-Related Sleep Disorders Commonly diagnosed breathing disorders include OSA, central sleep apnea (CSA), and sleep-related hypoventilation. These disorders are categorized by apneas (the total absence of airflow) and hypopneas (a marked reduction in airflow). To diagnose any of these disorders, a nocturnal PSG is required. OSA is categorized by nocturnal breathing disturbances (e.g., snoring, snorting, gasping for air, or pauses in breathing), daytime sleepiness, fatigue, and experiencing poor, unrefreshing sleep despite getting an adequate sleep opportunity. Evidence from nocturnal PSG is required for diagnosis, such that an individual’s apnea-hypopnea index (AHI; the number of apneas plus hypopneas per hour of sleep) is at least 5 with reported nighttime breathing disturbances and daytime disruption (e.g., sleepiness, fatigue), or the individual has an AHI $ 15, regardless of accompanying symptoms. OSA should not be better explained by or attributable to a coexisting medical or mental health condition. Clinicians should specify the severity of the OSA; mild is an AHI 5 14, moderate is an AHI 15 30, and severe is an AHI greater than 30. Prevalence of OSA tends to be higher among males and older adults,18 and has been associated with a number of medical and mental health conditions, including obesity, systematic hypertension, coronary artery disease, heart failure, stroke, diabetes, increased mortality, and depression.4 CSA is characterized by repeated episodes of apneas and hypopneas during sleep, totaling at least 5 or more per hour, caused by variability in respiratory effort. Within the DSM-5, CSA can be classified as either idiopathic CSA, which refers to apneas and hypopneas caused by variability in respiratory effort without evidence of airway obstruction, Cheyne Stokes breathing, which presents as a crescendo decrescendo variation in tidal volume that results in central apneas and hypopneas that are frequently accompanied by an arousal, or CSA comorbid with opioid use, which is attributed to the effects of opioids on the respiratory rhythm generators in the medulla and the hypoxic and hypercapnic effects they may have on respiratory drive. Idiopathic CSA is relatively uncommon, constituting approximately 5% of patients referred to a sleep clinic,19 but its presence may be much higher in other clinical populations, such as those with heart failure and left ventricular ejection fraction of 45%,20 as well as among those living at higher altitudes.21 Most studies also suggest that idiopathic CSA is most common in middle-aged to elderly adults and more frequent in men (although not all studies have found this sex difference).3 CSA with Cheyne Stokes breathing is generally seen in patients 60 years or older and has been reported to occur in 26% 50% of patients during the acute period following a stroke.3 In addition, when looking at a sample of 450 men and women with congestive heart failure, risk factors for Cheyne Stokes breathing included being 60 years or older, the presence of atrial fibrillation, male sex, and daytime hypocapnia.22 CSA comorbid with opioid use occurs in approximately 30% of individuals receiving methadone maintenance therapy and those taking chronic opioids for nonmalignant pain.4 Sleep-related hypoventilation is characterized by episodes of decreased respiration associated with elevated CO2 levels, as measured by PSG or oximetry, and is not better explained by another sleep disorder. It can be classified as idiopathic hypoventilation, which is not attributable to any readily identified condition, congenital central alveolar

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hypoventilation, which is a rare disorder typically presenting in the perinatal period with shallow breathing or cyanosis and apnea during sleep, or comorbid sleep-related hypoventilation, which typically occurs as a consequence of another medical condition such as COPD, interstitial lung disease, muscular dystrophies, obesity, or medications (e.g., benzodiazepines, opiates).4

Circadian Rhythm Sleep Wake Disorders Circadian rhythm disorders are characterized by a misalignment or alteration between an individual’s endogenous circadian rhythm and their required physically, socially, or professionally determined sleep wake schedule. This disruption leads to insomnia and/ or sleepiness and causes significant daytime impairment in social, occupational, educational, behavioral, or other important areas of function. A circadian rhythm sleep wake disorder is considered episodic if the symptoms last for at least 1 month but less than 3 months, persistent if the symptoms last 3 months of longer, and/or recurrent if two (or more) episodes occur within the space of 1 year. Delayed sleep phase type occurs when an individual’s sleep is delayed beyond the socially acceptable or conventional bedtime (the so-called night owls), causing difficulty waking up at their desired, or perhaps required, time. Prevalence in the general population is approximately 0.17%4 and among adolescents is approximately 3.3%.23 Advanced sleep phase type occurs when an individual is unable to stay awake in the early evening, goes to bed very early (e.g., between 6:00 and 8:00 p.m.) and then wakes up early in the morning (e.g., between 2:00 and 4:00 a.m.; the so-called morning lark or early birds). Prevalence is estimated to be 1% in middle-aged adults.4 While the timing of advanced sleep phase time may be early, the sleep itself tends to be normal. Irregular sleep wake type refers to a temporally disorganized rhythm, wherein the individual may take numerous naps throughout the day, have no main nighttime sleep episode, and have irregularities in sleep from dayto-day; the prevalence in the general population is unknown.4 Non-24-hour sleep wake type is a pattern of sleep wake cycling that is not synchronized with a 24-hour environment with gradual drifts (usually in a clockwise direction) of sleep onset and wake times. While prevalence in the general population is unclear, it appears to be rare in sighted individuals and more common (approximately 50%) among blind individuals.4 Shift work type occurs when an individual reports insomnia during the major sleep period and/or excessive sleepiness during the major awake period that is typically associated with a schedule of unconventional work hours. Prevalence of shift work type increases with advancement into middle-age and beyond, and is estimated to affect 5% 10% of the night worker population,24 which is 16% 20% of the workforce.4

Parasomnias Parasomnias are characterized by abnormal behavior occurring in association with sleep or sleep wake transitions, such as sleepwalking, sleep terrors, nightmare disorder, and REM sleep behavior disorder. Other parasomnias which will not be detailed in this chapter include confusional arousals, sleep paralysis, exploding head syndrome, sleep-related

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hallucinations, and sleep enuresis (see cited articles for more information).25 28 All parasomnias must cause the individual significant daytime impairment in social, occupational, educational, behavioral, or other important areas of function, and cannot be better explained by another sleep wake disorder, the physiological effects of a substance, or a coexisting medical or mental health condition. Both sleepwalking and sleep terrors are considered NREM sleep arousal disorders, as they frequently occur during deep, slow wave sleep seen in the first third of the night. NREM sleep arousal disorders occur most often in childhood and decrease as individuals get older. Sleepwalking involves rising from the bed during sleep and walking about, with the individual being relatively unresponsive to people communicating with him or her, having a blank, staring face, and being awakened only with great difficulty. Sleepwalking may also present with eating or sexual behavior. Among adults, the prevalence of sleepwalking episodes is 1% 7% and is more common in males.4 Among the children, the prevalence of at least one sleepwalking episode is 10% 30% (with 2% 3% sleepwalking often) and is more common in females.4 Eighty percent of individuals who sleepwalk have a family history of sleepwalking or sleep terrors, and the risk for sleepwalking increases if both parents have a history of the disorder.4 In a genetics study examining DNA of 22 family members across four generations, researchers found that sleepwalking has a genetic component with an “autosomal reduced penetrance” pattern, exhibited on a region of chromosome 20.29 “Autosomal” means that the gene is carried on the nonsex chromosomes, and “reduced penetrance” means that sleepwalking appears to skip generations because not everyone who inherits the faulty genes has symptoms. Sleep terrors present as abrupt arousals, usually beginning with a scream and accompanied by intense fear and autonomic arousal (e.g., rapid breathing, sweating, tachycardia, pupil dilation). Among adults, the prevalence of sleep terror episodes is 2.2%, and there are no sex-related differences.4,30 Among children, the prevalence of sleep terrors episodes is much higher—36.9% at 18 months of age and 19.7% at 30 months of age—and tends to be more common in males than females.4 Nightmare disorder and REM sleep behavior disorder tend to occur during the second half of the night, when REM sleep is more prominent. In both disorders, an individual is both alert and oriented when they are awakened. Nightmare disorder involves dream imagery that seems real and elicits dysphoric emotions, such as anxiety or fear. Nightmares are more prevalent during childhood through young adulthood and tend to decline with age; they are also associated with female sex, increased stress, psychopathology, and dispositional traits, such as the tendency to experience events with distressing, highly reactive emotions.31 REM sleep behavior disorder involves repeated episodes of arousal that tend to be accompanied by complex motor behaviors (e.g., kicking, punching) and vocalizations (e.g., loud, emotion-filled profanity). Diagnosis can be made when a PSG indicates REM sleep without atonia or if the patient has a history suggestive of REM sleep behavior disorder and an established synucleinopathy diagnosis, which refers to degenerative diseases of the central nervous system that exhibit excessive accumulation of alpha-synuclein (a brain protein) in the neurons (e.g., multiple system atrophy, Parkinson’s disease, dementia with Lewy bodies). Prevalence among the general population is between 0.38% and 0.5%.4 Tricyclic antidepressants, selective serotonin reuptake inhibitors, serotonin-norepinephrine reuptake inhibitors, and beta-blockers may result in PSG evidence characteristic of REM

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sleep behavior disorder; however, it is not known whether the medications result in REM sleep behavior disorder or if they are unmasking an underlying predisposition.4

Movement-Related Sleep Disorders Two frequently diagnosed movement disorders are RLS and periodic limb movement disorder (PLMD). While both conditions involve an inability to keep still, the disorders are distinctly different. With RLS, an individual will report an irresistible urge to move their legs that tends to worsen in the evening/night, during periods of rest or inactivity, and is either partially or totally relieved by movement. These symptoms occur at least 3 times per week and have persisted for at least 3 months. Predisposing factors to RLS include female sex, older age, family history of RLS, and genetic risk variants (e.g., intronic or intergenic regions of MEIS1, BTBD9, and MAP2K5 on chromosomes 2p, 6p, and 15q).4,32 RLS is associated with pregnancy, peaking during the third trimester and often resolving itself following delivery.4,33 RLS symptoms occur both when the individual is awake and asleep, and he or she can voluntarily respond to the uncomfortable sensations. On the other hand, PLMD is a sleep disorder in which an individual involuntarily moves his or her limbs during sleep; individuals are often unaware that these movements are occurring. PLMD movements typically occur during NREM sleep and individuals often report excessive daytime sleepiness. PLMD is diagnosed using PSG, which may reveal that these frequent, involuntary leg moves are often, but not always, accompanied by brief arousals or awakenings. Approximately 4% of adults have been diagnosed with PLMD,32 with increasing rates among elderly females (11%).34 Previous studies have found that approximately 80% of individuals with RLS also experience periodic leg movements in sleep (index .5 movements/hour sleep); 35 however, the reverse is not always the case. That is, those with periodic leg movements during sleep do not necessarily experience RLS. Both RLS and PLMD must cause the individual significant daytime impairment in social, occupational, educational, behavioral, or other important areas of function, and cannot be better explained by another sleep wake disorder, the physiological effects of a substance, or a coexisting medical or mental health condition.

PSYCHOLOGICAL, BEHAVIORAL, AND LABORATORY ASSESSMENTS TO AID DIAGNOSIS There are a number of useful clinical tools to aid in the diagnosis and assessment of sleep wake disorders. The most commonly used tools include gathering a thorough clinical history, daily self-monitoring of sleep wake patterns, self-report questionnaires, actigraphy, PSG, the MSLT, and the maintenance of wakefulness test (MWT).

Clinical History Collecting information using a structured or semistructured interview can help clinicians gather important details concerning a patient’s sleep complaint, such as acuity or

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chronicity, course, factors alleviating or exacerbating the condition, and any previous treatment utilization. To help establish the etiology of their sleep concern(s), it is important to inquire about particular medical or mental health conditions, life events, and substance use present at the onset of the sleep problem. Clinicians might consider using the Duke Structured Interview for Sleep Disorders,36 which was developed to assess sleep disorder symptoms according to criteria found in the ICSD and DSM. This semistructured interview is divided into four modules: insomnia disorders, sleep disorders associated with excessive daytime sleepiness and hypersomnia, circadian rhythm disorders, and parasomnias. Bed partners (or parents) are also an important source of clinical information, as they can often fill in gaps that the patient is unaware of, such as sleep apnea symptoms (breathing pauses, snoring), parasomnias (instances of sleepwalking or sleep terrors), or PLMD.

Daily Self-Monitoring Filling out a prospective sleep diary on a daily basis can help create a more thorough clinical picture to aid in sleep disorder diagnosis and highlight a patient’s sleep habits. It is recommended that clinicians gather 1 2 weeks of data since night-to-night variability of sleeping patterns is common (e.g., differences between sleep during weekdays vs weekends).37,38 A typical sleep diary includes what time the patient got into bed, when they attempted to start sleeping, how long it took them to fall asleep, number and duration of awakenings, time of their final awakening, what time they actually got out of bed, napping behavior, use of sleep aids, and a measure of their perceived sleep quality.39 Once the diaries are collected, a clinician can determine average sleep onset latency, wake after sleep onset (i.e., nocturnal awakenings), early morning awakenings, total wake time, total sleep time, total time in bed, and sleep efficiency [(total sleep time/total time in bed) 3 100], which can help with treatment planning and decision-making to help a patient get their sleep back on track.

Self-Report Questionnaires There are numerous questionnaires that can aid clinicians in the assessment of sleep disorder symptoms, with some being useful tools to employ during treatment to monitor change across time. Table 1.3 provides a brief outline of several commonly used selfreport questionnaires.

Actigraphy Actigraphs are small, wristwatch-like units that continuously measure movement and activity using an accelerometer. Some actigraphy recorders also have capability to measure light exposure. This noninvasive device is particularly helpful in determining sleep patterns and circadian rhythms in those with insomnia, hypersomnia, advanced sleep phase syndrome, delayed sleep phase syndrome, shift work disorder, jet lag disorder, and non24-hours sleep/wake syndrome.47 This useful tool can provide clinicians with several days

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TABLE 1.3 Common Questionnaires Used to Assess Sleep-related Concerns Questionnaire

Description and Use 40

Berlin Questionnaire

A 10-item questionnaire assessing the presence of sleep apnea symptoms in three categories, including snoring severity, excessive daytime sleepiness, and history of high blood pressure or obesity. A physician or medical staff member must interpret the score (high risk obstructive sleep apnea 5 if 2 of 3 categories are positive; low risk obstructive sleep apnea 5 if 0 1 of the categories are positive)

Dysfunctional Beliefs About Sleep Questionnaire (DBAS-16)41

A 16-item questionnaire assessing dysfunctional beliefs about sleep. Scores are computed by taking the average of all completed 16 items. A higher score reflects greater dysfunctional beliefs about sleep. Targetspecific items/beliefs rated as .5 for intervention

Epworth Sleepiness Scale (ESS)42

An eight-item questionnaire assessing daytime sleepiness (i.e., “the chance of dozing off”) in different typical scenarios, such as watching TV or sitting and reading (score range 0 24; ,10 5 normal, 10 15 5 possible excessive sleepiness depending on the situation, 16 24 5 excessive sleepiness, consider seeking medical attention)

Insomnia Severity Index (ISI)39

A seven-item questionnaire used to assess insomnia severity (score range 0 28; ,8 5 normal, 8 13 5 subthreshold insomnia, 14 21 5 moderate insomnia, 22 28 5 severe insomnia)

Morningness Eveningness Questionnaire43

A 19-item questionnaire that provides information about circadian tendencies (score range 16 86; higher scores 59 86 5 morning type, mid-range scores 42 58 5 intermediate type with no stronger preference toward morning or evening, lower scores 16 41 5 evening type)

Pittsburgh Sleep Quality Index (PSQI)44

A 19-item questionnaire that measures the quality of sleep and general sleep patterns of adults, differentiating “poor” from “good” sleep quality by measuring seven areas: subjective sleep quality, sleep latency, sleep duration, habitual sleep efficiency, sleep disturbances, use of sleeping medications, and daytime dysfunction over the last month (score range 0 21; # 5 associated with good sleep quality; .5 associated with poor sleep quality)

Restless Legs Syndrome Scale45

A 10-item scale assessing the severity and impact of restless legs syndrome (score range 0 40; mild 5 0 10, moderate 5 11 20, severe 5 21 30, very severe 5 31 40)

STOP-BANG Questionnaire46

An eight-item questionnaire assessing the presence of sleep apnea symptoms, including snoring, tiredness, observed apneas, high blood pressure, body mass index, age over 50, neck circumference, and gender (low risk obstructive sleep apnea 5 yes to 0 2 questions; intermediate risk obstructive sleep apnea 5 yes to 3 4 questions; high risk obstructive sleep apnea 5 yes to 5 8 questions OR yes to 2 or more of the four STOP questions plus either male sex, BMI .35 kg/m2, or neck circumference 17 in./43 cm in males or 16 in./41 cm in females)

.

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(and sometimes weeks) of data and provides an acceptably accurate estimate of sleep patterns in normal, healthy adult populations and inpatients suspected of having certain sleep disorders.47 An actigraphy recorder is typically worn on a patient’s nondominant hand. The manufacturer of the actigraphy devices typically provides a corresponding program that reads the data through a sleep scoring algorithm to compute parameters such as time in bed, sleep onset latency, total wake time, total sleep time, and sleep efficiency. Since actigraphy is based on movement, there may be difficulties distinguishing wake from sleep in patients that are lying awake in bed but not moving (e.g., insomnia); however, previous research has shown that estimates of sleep and wake time in insomnia patients correlate moderately well with analogous measures derived from PSG (r 5 0.52 0.71) and are sufficiently sensitive to detect sleep improvements resulting from behavioral insomnia therapy.48 Increasingly clinicians are seeing more patients come in with data from wearable fitness trackers (e.g., Fitbit, Jawbone, Garmin) that claim reliable measurement of sleep/wake patterns; however, a recent systematic review found that fitness trackers overestimated total sleep time and sleep efficiency, and underestimated wake after sleep onset when comparing it to PSG metrics.49 Therefore, clinicians should be cautious in using fitness tracker data to reliably ascertain sleep-related parameters.

Polysomnography PSG is the gold standard for measuring sleep to confirm several sleep disorder diagnoses, such as sleep apnea, PLMD, narcolepsy (in conjunction with a MSLT), and some parasomnias, such as REM behavior disorder.50 PSG can be used to measure a number of parameters during sleep, including heart rate, breathing rate, airflow, oxygen saturation, eye movements, snoring volume, muscle activity, body motion, positions during sleep, and brain activity. A typical PSG study occurs in a sleep center where a patient will spend the night and be continuously monitored; however, an increasing number of insurance companies allow patients to be sent home with an at-home sleep test that can generate either an AHI (the number of apneas or hypopneas recorded during the study per hour of sleep) or a respiratory disturbance index (the number of apneas, hypopneas, and other, more subtle, breathing irregularities occurring per hour of sleep), which may prompt a more detailed overnight PSG sleep study at a sleep center. PSG is also used for continuous positive airway pressure titration in patients with sleep-related breathing disorders and may be indicated for patients with sleep-related symptoms with concurrent neuromuscular or seizure-related disorders.50 PSG is not routinely indicated for diagnosing insomnia; however, recent research has suggested that objectively defined total sleep time less than 6 hours (on average) may represent a more severe phenotype of insomnia51,52 that responds to first-line treatments differently.53 Therefore, if a PSG test is available for an individual with insomnia, it may provide useful information to help guide treatment, since it is the only measure that can truly distinguish between wake and sleep stages, as well as the percentage of time a person spends in different sleep stages [e.g., N1 or N2 (lighter sleep) vs N3([slow wave, deeper sleep) vs REM sleep].

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Multiple Sleep Latency Test The MSLT is the de facto standard for objectively measuring sleepiness and is used in conjunction with PSG to help diagnose patients with suspected narcolepsy or idiopathic hypersomnia.54 It is not routinely indicated for evaluating sleepiness in medical or neurological disorders (other than narcolepsy), circadian rhythm disorders, or insomnia.54 The MSLT typically consists of five naps separated by 2-hour breaks, with the first nap beginning 1.5 3 hours after termination of the nocturnal PSG recording.54 The goal is to capture physiological sleep tendency (i.e., how long it takes a patient to fall asleep) and what sleep stages a patient transitions into during those naps. The naps are completed in a standardized environment aimed at minimizing external factors (e.g., temperature, light, noise, activity, etc.) that might keep a patient alert or affect their ability to fall asleep.

Maintenance of Wakefulness Test The maintenance of MWT is intended to measure alertness during the day by assessing how well a patient is able to stay awake for a defined period of time (i.e., remaining alert in quiet times of inactivity). In contrast to the MSLT, this test focuses on a patient’s ability to stay awake (rather than fall asleep). It is indicated for those whom the inability to remain awake constitutes a safety issue (e.g., pilot, truck driver), or to assess treatment response to medications in patients with narcolepsy or idiopathic hypersomnia.54 The MWT typically consists of four 40-minute trials with 2-hour breaks in between, with the first trial beginning between 1.5 and 3 hours after the patient’s usual wake-up time.54 The wakefulness trials are completed in a standardized environment aimed at minimizing outside factors that might influence a patient’s ability to fall asleep (e.g., temperature, light, noise, activity, etc.). Clinicians should rely on a combination of clinical judgment, sleep onset latency, clinical history, and compliance with treatment to determine impairment or risk for accidents.54

AREAS FOR FUTURE RESEARCH Herein we have described the current and most widely used classification systems for the diagnosis of currently recognized sleep disorders. Although these systems reflect a level of sophistication in our current understanding of sleep disorders, it should be acknowledged that these systems have been devised as much on the basis of clinical experience and consensus as they have been on actual empirical evidence. This fact is due, in part, as a result of the uneven knowledge base for the currently recognized sleep disorders. For some conditions such as narcolepsy, much is known about underlying pathophysiological mechanisms, whereas for other conditions, like insomnia disorder, little such knowledge is currently available. This situation does not necessarily preclude the possibility that many sleep disorders listed in the current nosologies represent valid entities that can be reliably identified in clinical and research settings, yet it remains to be determined if this is the case. The available literature assessing the reliability and validity of sleep disorders remains rather limited and remarkably unimpressive. In fact, there have been very

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limited or no reliability/validity assessments of many of the sleep disorder categories listed in current nosologies. Thus, much more research is needed that is specifically designed to assess the reliability/validity of many of the sleep disorders individually and of the classification schemes taken as a whole. A related issue is the fact that discrimination and subtyping among the various sleep disorder categories remains quite challenging. For example, it is often difficult in practice to clearly discriminate cases of hypersomnolence disorder from emerging cases of narcolepsy. Whereas there are many assays for identifying narcoleptic patient, particularly those with cataplexy, there are not definitive assays that define those with hypersomnolence disorder unrelated to narcolepsy. Similarly, there are no generally accepted assays for confirming the diagnosis of insomnia or assays that can discriminate those with mild vs severe forms of this disorder. Emerging research has suggested that objective total sleep duration may be a useful marker for separating those with severe and more treatment refractory insomnia from those with less serious and more treatable disease.52,53,55 However, this criterion has yet to be widely accepted and integrated into diagnostic systems. Admittedly, these are just two instances that highlight the importance of further research into the development of reliable and valid assays that can confirm sleep disorder diagnoses. However, the diagnostic systems would generally benefit by such research across the range of disorders they describe. Another area of exploration is suggested by the contrasting views of sleep disorders posed by the ICD-10 and DSM-5/ICSD-3 systems. As noted previously, the ICD-10 subdivides sleep disorders into those having an organic basis and those have nonorganic origins. In contrast, the DSM-5/ICSD-3 approach implies that specific sleep disorders can arise from a confluence of organic and nonorganic factors. Hence, the ICD-10 has a “black or white” view of sleep disorder etiology whereas the other systems appreciate varying “shades of gray” in a sleep disorder’s evolution. Since it can be challenging to distinguish whether something has an organic vs nonorganic cause, many experts have recommended using the terminology “comorbid” to describe when conditions co-occur. Research to settle this controversy would be useful since such opposing views perpetuate an ongoing discordance among these diagnostic systems. Finally, to date there has been a paucity of research to show that any of these diagnostic systems aid in and improve clinician’s assignment of patients to specific treatments. This is surprising since one primary purpose of clinical diagnosis is that of aiding in treatment decision-making.56 In this regard, simple study designs which allocate some patients to treatments randomly and others based on patients’ diagnoses would be useful to validate these systems for clinical practice, yet such studies await future research efforts.

CONCLUSION Currently available diagnostic systems for sleep disorders delineate a range of diagnoses including, but not limited to, insomnia disorder, hypersomnolence disorder, narcolepsy, sleep-disordered breathing, circadian rhythm sleep wake disorders, parasomnias, and sleep-related movement disorders. The methods of classification

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posed by the ICSD-3, DSM-5, and ICD-10 are overlapping but not totally concordant. This fact is due largely to differences among these systems as to whether sleep disorders should be divided into global organic and nonorganic categories, or not. Regardless of the particular system used, there are a number of helpful assessment procedures that can aid clinicians in establishing a patient’s diagnosis and selecting appropriate treatment. These assessment procedures include the clinical interview, self-report instruments, and objective tools (PSG, MSLT, actigraphy, etc.). The field of sleep medicine encompasses a varied and complex range of disease states, and it is essential for the clinician who works with sleep-disordered patients to have a thorough understanding of the disorders outlined in the current sleep disorder classification schemes. K E Y P R A C T I C E P O I N T S

Consideration

Options

Diagnostic choice

Sleep disorders are categorized into multiple categories including insomnia, hypersomnolence, narcolepsy, breathing-related sleep disorders, circadian rhythm sleep wake disorders, parasomnias, and sleep related movement disorders A range of self-report assessment methods (clinical interview, sleep diary, sleep-specific questionnaires) can be useful for diagnosing sleep disorders. However, in some cases, additional objective methods such as PSG, MSLT, actigraphy, and MWT may be helpful and even necessary to confirm a diagnosis Clinical interviews are useful for all sleep disorders, whereas sleep diary assessment is especially applicable to the assessment of insomnia and circadian rhythm sleep wake disorders This technique is most useful for diagnosis of narcolepsy, breathingrelated sleep disorders, selected parasomnias, PLMD, and hypersomnolence disorder This technique is most useful for diagnosis of narcolepsy and hypersomnolence disorder This method is most useful in the diagnosis of circadian rhythm sleep wake disorders. It may also be useful for select cases of insomnia, such as determining objective total sleep time and monitoring treatment response Although not a classic “diagnostic test,” this procedure is useful for assessing alertness in those working in industries wherein sleepiness can be dangerous (e.g., transportation industry)

Diagnostic tools

Self-report assessment methods PSG

MSLT Actigraphy

MWT

PSG, Polysomnography; PLMD, periodic limb movement disorder; MSLT, multiple sleep latency test; MWT, maintenance of wakefulness test.

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