Sleep has three essential characteristics:
Required for proper brain function. Failure to sleep impairs thought processes, mood regulation, and normal physiologic functions.
Not a single process; there are several distinct types of sleep.
Not a passive process; during sleep, there is a high degree of brain activation and metabolism.
Several basic mechanisms regulate sleep, and when these systems go awry, sleep disorders occur.
Sleep disorders are both dangerous and expensive.
Hypersomnolence is a serious, potentially life-threatening condition affecting the sleepy individual, their family, coworkers, and society.
Sleep-related motor vehicle accidents represent public safety concerns.
Investigations link major industrial catastrophes to sleepiness.
Research shows that sleep-disordered breathing contributes to hypertension, heart failure, and stroke.
Sleep disorders’ direct cost per annum in the United States is about 16 billion, with indirect costs ranging upward to more than 100 billion.
This chapter describes disorders in healthy sleep.
It is helpful to understand the stages of sleep and electrophysiologic criteria.
Persons with insomnia primarily have difficulty falling asleep, difficulty staying asleep, or trouble waking early with an inability to fall back to sleep, sufficient to impair their functioning.
In children, this may manifest as resistance to caregiver designation of bedtime or difficulty sleeping without some sort of intervention from the caregiver.
Hypersomnolence broadly refers to excessive sleepiness and time sleeping.
During the day, people are drowsy and have reduced attention.
Excessive sleepiness can be a serious, debilitating, potentially life-threatening condition, affecting the patient, their family, colleagues, and the public.
Not due to disrupted sleep or circadian problems, hypersomnolence disorder likely results from some fundamental neurologic sleep regulation dysfunction.
People with narcolepsy have an overwhelming desire to sleep and may suddenly fall asleep, even if it is not appropriate to do so.
They may experience cataplexy, or the sudden loss of muscle tone, usually with continuing full or partial consciousness.
Laughter or other strong emotions commonly precipitate the cataplexy.
Cataplexy can range from transient weakness in the knees to total paralysis while the patient is fully conscious.
Episodes may last from several seconds to minutes.
Usually, the patient is unable to speak and may fall to the floor.
Sleep paralysis and hypnagogic (or hypnopompic) hallucinations may occur.
People who present with sleep-related breathing disorders experience an interruption of normal respiration that impacts their sleep, often resulting in CNS arousal and, consequently, daytime sleepiness.
Sleep-related breathing disorders include conditions involving large airway obstruction during sleep, breathing cessation resulting from central respiratory mechanisms, and hypoventilation without breathing cessation.
Those affected may experience sleep-related breathing cessation (sleep apnea), in which the patient stops breathing for 10 seconds or more during sleep.
They may instead have reduced breathing or hypopnea.
Airway obstruction is the usual case of these impairments, however central (brainstem) pathology can also be the cause.
When asleep, breathing cessations or reductions typically provoke CNS arousal, significant oxyhemoglobin desaturation, or both.
Sleep apnea can be obstructive, central, or mixed, depending on the cause.
The clinical presentation of the sleep-related breathing disorders varies depending on the mechanism of the disorder.
Circadian rhythm sleep disorders include a wide range of conditions involving a misalignment between desired and actual sleep periods.
This collection of sleep disorders shares the same primary underlying etiology—a desynchrony between an individual’s internal circadian biologic clock and the desired or conventional sleep–wake cycle.
The circadian pacemaker is in the suprachiasmatic nucleus (SCN).
SCN firing oscillates with an almost sinusoidal pattern, the period of which is 24 hours, and the output correlates with the daily fluctuations in core body temperature.
Mismatched circadian clock and desired schedules can arise from improper phase relationships between the two, travel across time zones, or dysfunctions in the basic biologic rhythm.
Under normal circumstances, the internal circadian pacemaker is reset each day by bright light, social cues, stimulants, and activity.
In cases in which these factors fail to reentrain the circadian rhythm, the circadian sleep disorders occur.
Wakefulness: Low-voltage, mixed frequency activity; α (8–13 cps) activity with eyes closed, Eye movements and eye blinks, High tonic activity and voluntary movements
Non–rapid eye movement sleep Stage 1: Low-voltage, mixed frequency activity; θ (3–7 cps) activity, vertex sharp waves, Slow eye movements, Tonic activity slightly decreased from wakefulness
Stage 2: Low-voltage, mixed frequency background with sleep spindles (12–14 cps) bursts and K complexes (negative sharp wave followed by positive slow wave), None, Low tonic activity
Stage 3: High-amplitude (\geq75 µV) slow waves (\leq2 cps) occupying 20–50% of epoch, None, Low tonic activity
Stage 4: High-amplitude slow waves occupy >50% of epoch, None, Low tonic activity
REM sleep: Low-voltage, mixed frequency activity; saw-tooth waves, θ activity, and slow α activity, REMs, Tonic atonia with phasic twitches
cps, cycles per second; REM, rapid eye movement.
Obstructive Sleep Apnea
Excessive sleepiness
Snoring
Obesity
Restless sleep
Nocturnal awakenings with choking or gasping for breath
Morning dry mouth
Morning headaches
Heavy nocturnal sweating
Central Sleep Apnea
Breathing cessations unrelated to airway flow limitations
Insomnia
Daytime sleepiness
Morning headaches
Parasomnias are disorders of partial arousal.
The parasomnias are a diverse collection of sleep disorders characterized by physiologic or behavioral phenomena that occur during or are potentiated by sleep.
One conceptual framework views many parasomnias as overlaps or intrusions of one sleep–wake state into another.
Usually, we divide sleep into three basic states: wakefulness, non–rapid eye movement (NREM) sleep, and REM.
During wakefulness, both the body and brain are active.
In NREM sleep, both the body and brain are much less active.
REM sleep, however, pairs an atonic body with an active brain (capable of creating elaborate dream fantasies).
Regional cerebral blood flow, magnetic resonance imaging (MRI), and other imaging studies confirm increased brain activation during REM sleep.
In some parasomnias, there are state boundary violations.
Arousal disorders (sleepwalking and sleep terrors) involve momentary or partial wakeful behaviors suddenly occurring in NREM sleep.
Isolated sleep paralysis is the persistence of REM sleep atonia into the wakefulness transition, whereas REM sleep behavior disorder (RBD) is the failure of the mechanism creating paralytic atonia such that individuals act out their dreams.
Sleep-related movement disorders typically involve relatively simple bodily movements that impact sleep.
Three different nosologies provide classification systems for sleep disorders:
the Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-5)
the International Classification of Sleep Disorders, third edition (ICSD-3)
the International Classification of Diseases, 10th edition (ICD-10).
Most general psychiatrists use the DSM-5 approach.
Sleep Medicine specialists often prefer the ICSD-3.
The primary diagnostic criteria descriptively relate to how insomnia affects sleep.
To be diagnosed with insomnia, the person must have difficulty falling asleep, staying asleep, or waking early with difficulty getting back to sleep.
While there are no formal criteria for diagnostic subtypes of insomnia, the ICSD-3 does describe each subtype briefly.
Psychophysiologic Insomnia (PPI) involves conditioned arousal with the thought of sleeping.
Objects related to sleep (e.g., the bed, the bedroom) likewise have become conditioned stimuli that evoke insomnia.
Daytime adaptation is usually good; however, there can be extreme tiredness, and the affected person can become desperate.
PPI often occurs in combination with stress and anxiety disorders, delayed sleep phase syndrome, and hypnotic use and withdrawal.
Idiopathic insomnia characterizes patients with a lifelong inability to obtain adequate sleep.
The insomnia predates any psychiatric condition, and other etiologies must be ruled out or treated, including PPI, environmental sleep disturbances, and poor sleep hygiene.
Paradoxical insomnia involves a dissociation between sleep and its usual attendant unconsciousness.
In paradoxical insomnia, a person thinks he or she is awake and having insomnia even though the brain electrophysiologic activity pattern is consistent with the correlates of healthy sleep.
We should consider this disorder when a patient complains of difficulty initiating or maintaining sleep without any objective evidence of sleep disruption.
Paradoxical insomnia can occur in individuals who are free from psychopathology; however, it may represent a somatic delusion or hypochondriasis.
Some patients with paradoxical insomnia have obsessional features regarding bodily functions.
Inadequate sleep hygiene refers to insomnia produced by behaviors that are not conducive to good sleep.
Many behaviors can interfere with sleep.
Some of these behaviors increase arousal, for example, consuming caffeine or nicotine at night or engaging in excessive emotional or physical stimulation within a few hours of bedtime.
Other behaviors interfere with sleep architecture, including daytime naps and a significant variation of the daily sleep–wake schedule.
Behavioral Insomnia of Childhood: Children with this subtype of insomnia depend on specific stimulation, objects, or setting for initiating or returning to sleep.
Alternatively, without adequate limit-setting by the caregiver, bedtime stalling or bedtime refusal can ensue.
Insomnia Comorbid with Mental Disorder: This type of insomnia is the most common.
Insomnia Comorbid with Medical Condition: Insomnia accompanies many medical and neurologic conditions.
Insomnia due to Drug or Substance: Many prescription drugs, even when taken properly, can disturb sleep.
Alcohol and hypnotic use initially promote sleep onset because of their sedating properties.
Caffeine (the active ingredient in coffee) and theobromine (the active ingredient in chocolate) are methylxanthines and act as psychostimulants in the central nervous system (CNS).
Psychostimulants increase sleep latency, reduce sleep efficiency, and decrease total sleep time.
Finally, abuse of illicit substances, particularly stimulants (such as cocaine and amphetamines), interfere with sleep onset and sleep maintenance. Unlike with alcohol, discontinuation of these substances will cause hypersomnolence.
DSM-5 includes hypersomnolence disorder as a discreet diagnosis, whereas ICSD and ICD consider it more broadly.
ICSD refers to it as “idiopathic hypersomnia” and questions whether it is a single disorder or rather a group of disorders with different underlying causes.
In general, we should consider this disorder when a patient complains of frequently feeling sleepy despite getting adequate sleep.
Kleine–Levin Syndrome is a relatively rare condition consisting of recurrent periods of prolonged sleep (from which they are arousable) with intervening periods of healthy sleep and alert waking.
During the episodes of hypersomnia, wakeful periods are usually marked by withdrawal from social contacts and return to bed at the first opportunity.
In its classic form, the recurrent episodes include extreme sleepiness (18- to 20-hour sleep periods), voracious eating, hypersexuality, and disinhibition (e.g., aggression).
Episodes typically last for a few days up to several weeks and appear once to 10 times per year.
People with narcolepsy have irresistible sleep episodes, lapses into sleep, or nap frequently.
The discovery that narcolepsy is strongly associated with a hypocretin (orexin) deficit radically changed diagnostic practice.
Cataplexy had been considered a core feature of the disorder, but we now know that there are variants that occur without cataplexy.
DSM-5 includes three disorders under the category of sleep-related breathing disorders: obstructive sleep apnea-hypopnea, central sleep apnea, and sleep-related hypoventilation.
Obstructive Sleep Apnea/Hypopnea (OSA) occurs when the airway partially or fully collapses during sleep.
Decreased oxygen saturation and increased respiratory effort leads to arousals and sleep fragmentation.
Predisposing factors for OSA include being male, reaching middle age, being obese, and having micrognathia (undersized lower jaw), retrognathia (posteriorly positioned lower jaw), nasopharyngeal abnormalities, hypothyroidism, and acromegaly.
Patients with OSA may also have hypertension, erectile failure in men, depression, heart failure, nocturia, polycythemia, and memory impairment as a result of obstructive sleep apnea-hypopnea.
Obstructive apnea and hypopnea episodes can occur in any stage of sleep but are more typical during REM sleep, NREM stage 1, and NREM stage 2 sleep.
Central sleep apnea is a diminished effort to breathe.
There are many possible causes, DSM defines three of them: idiopathic CSA, Cheyne–Stokes breathing, and CSA comorbid with opioid use.
Other causes include heart failure, high altitude, brainstem lesions, metabolic conditions, specific drugs or substances (CNS depressants), congenital abnormalities, and positive airway pressure (PAP) treatment.
The critical characteristic linking the various CSA syndromes is the diminished breathing is not caused by airway obstruction.
Idiopathic CSA: Patients with idiopathic CSA typically have low normal arterial carbon dioxide tension (PaCO2) while awake and have a high ventilatory response to CO_2.
They present with daytime sleepiness, insomnia, or awakening with shortness of breath.
Cheyne–Stokes breathing is a unique breathing pattern consisting of prolonged hyperpnea during which tidal volume gradually waxes and wanes in a crescendo–decrescendo fashion.
CSA comorbid with opioid use: This syndrome is the third subtype of CSA in DSM-5, specified if opioid use disorder is present.
CSA due to high-altitude periodic breathing: Central apnea at sleep onset is universal at elevations above 7,600 m but can occur at 1,500 m in some individuals (especially with a rapid ascent).
CSA due to medical disorder without Cheyne–Stokes breathing: This form of CSA is usually caused by a brainstem lesion associated with a wide range of variable etiologies.
CSA due to drug or substance use: A variety of drugs or drug combinations can provoke central apnea episodes, most notably long-acting opiates.
Primary sleep apnea of infancy: This form of CSA involves prolonged apneas or hypopneas with concomitant hypoxemia, bradycardia, or both.
Sleep-Related Hypoventilation: DSM-5 includes three types of sleep- related hypoventilation disorders: (1) idiopathic hypoventilation, (2) congenital central alveolar hypoventilation, and (3) comorbid sleep-related hypoventilation (which results from a medical disorder, such as a cervical spinal cord injury, COPD, or a neuromuscular disorder, for example).
Polysomnography must demonstrate either episodes with elevated CO2 levels and decreased respirations or, if not monitoring the CO2, episodes of persistently low oxyhemoglobin levels that are not provoked by apnea or hypopnea.
DSM-5 lists six types of circadian rhythm sleep–wake disorders: delayed sleep phase type, advanced sleep phase type, irregular sleep–wake type, non– 24-hour sleep–wake type, shift work type, and unspecified type.
Delayed Sleep Phase Type: The delayed sleep phase circadian disorder occurs when the biologic clock runs slower than 24 hours or is shifted later than the desired schedule.
Advanced Sleep Phase Type: Advanced sleep phase occurs when the circadian rhythm cycle shifts forward. Therefore, the sleepiness cycle moves earlier.
Irregular Sleep–Wake Type: The irregular sleep–wake pattern occurs when the circadian sleep–wake rhythm is absent or pathologically diminished.
Non–24-Hour Sleep–Wake Type: When the circadian sleep–wake pacemaker has a cycle length greater or less than 24 hours and is not reset each morning, a person may develop this type of circadian rhythm disorder.
Shift Work Type: Shift workers commonly have insomnia, excessive sleepiness, or both.
Jet Lag Type: When an individual rapidly travels across many time zones, they either induce a circadian phase advance or a phase delay, depending on the direction of travel.
Unspecified Type: During illnesses that keep patients bedridden during hospitalizations, and in some forms of dementia, individuals often sleep erratically.
DSM 5 includes only three of the 10 specific parasomnias referenced in the ICSD-3.
Sleepwalking: In its classic form, sleepwalking is a condition in which an individual arises from bed and ambulates without fully awakening.
Sleep Terrors involve sudden arousal with intense fearfulness.
Confusional Arousals are defined as a milder form of NREM sleep parasomnias.
Sleep-Related Eating Disorder: In this disorder, eating may become obsessional, and the patient may eat several small meals during a night.
Nightmare Disorder: Nightmares are frightening or terrifying dreams.
REM Sleep Behavior Disorder (RBD) involves a failure of the patient to have atonia (sleep paralysis) during the REM stage sleep.
Recurrent Isolated Sleep Paralysis: Sleep paralysis is an inability to make voluntary movements during sleep.
Exploding Head Syndrome: Individuals with the parasomnia “hear” a loud imagined noise or a sense of an explosion.
Sleep-Related Hallucinations: This parasomnia typically involves visual images occurring at sleep onset (hypnagogic) or on awakening (hypnopompic) from sleep.
Sleep Enuresis is a disorder in which the individual urinates during sleep while in bed.
Parasomnia due to Drug or Substance Use and Parasomnia due to Medical Conditions: Many drugs and substances can trigger parasomnias, particularly those agents that lighten sleep; however, alcohol is notorious for producing sleepwalking (even in individuals who have taken sleeping pills).
RLS is an uncomfortable, subjective sensation of the limbs, usually the legs, sometimes described as a “creepy-crawly” feeling, and the irresistible urge to move the legs when at rest or while trying to fall asleep.
PLMD involves brief, stereotypic, repetitive, nonepileptiform movements of the limbs, usually the legs.
Nocturnal leg cramps are much like leg cramps that occur during wakefulness.
Sleep-related bruxism occurs when an individual grinds or clenches the teeth during sleep.
This sleep disorder consists of repetitive, rhythmic movements, usually involving the head and neck.
This disorder is characterized by asynchronous jerking of limbs and trunk during quiet sleep in neonates.
Propriospinal myoclonus at sleep onset is a spinal cord–mediated movement disorder, sometimes associated with spinal cord lesions.
Clinical Interview: A careful and thorough clinical interview is one of the most informative parts of a workup for sleep disorders.
Polysomnography is the continuous, attended, comprehensive recording of the physiologic changes that occur during sleep.
Home Sleep Testing involves recording a limited number of cardiopulmonary parameters to assess patients for sleep-related breathing disorders.
Multiple Sleep Latency Test (MSLT) is essential for the workup of narcolepsy.
Maintenance of Wakefulness Test (MWT) provides 40-minute test sessions at 2-hour intervals across the day, instructing the patient to try to remain awake.
Actigraphy: An actigraph is a device that measures and records movement.
Hypersomnolence Disorder: The EEG sleep pattern is essentially the same as that found in healthy individuals who are sleep deprived.
Narcolepsy: When the diagnosis is not clinically apparent, a nighttime polysomnographic recording reveals a characteristic sleep-onset REM period.
Obstructive Sleep Apnea: On the polysomnogram, episodes of OSA appear as multiple periods of at least 10 seconds’ duration in which nasal and oral airflow ceases either wholly or partially.
Central Sleep Apnea: The polysomnographic features of CSA are similar to those of OSA.
Sleep-Related Hypoventilation: Polysomnography demonstrates either episodes with elevated CO2 levels and decreased respirations or, if not monitoring CO2, episodes of persistently low oxyhemoglobin levels that are not provoked by apnea or hypopnea.
Parasomnias: Sleep studies help to develop a differential diagnosis and rule out that the unusual behavior is secondary to a seizure, sleep-related breathing disorder, or another sleep disorder.
In general, the differential diagnosis of sleep–wake disorders should include other individual sleep–wake disorders, psychiatric disorders, medical conditions, medications and substance use, and normal variants.
Insomnia Disorder: Many psychiatric disorders can cause a person to experience insomnia.
Hypersomnolence Disorder: Psychiatric disorders associated with increased sleep or fatigue, such as MDD or bipolar depression, should be considered part of the differential diagnosis.
Narcolepsy: The differential diagnosis of narcolepsy includes many of the same disorders as the differential diagnosis of hypersomnolence disorder. Also, cataplexy can be confused for seizures or neurologic movement disorders (e.g., chorea).
Sleep-Related Breathing Disorders: The differential diagnosis of sleep-related breathing disorders includes many of the same disorders as the differential diagnosis of insomnia and hypersomnolence disorders, given the clinical presentation of fatigue and daytime sleepiness.
Circadian Rhythm Sleep–Wake Disorders: The differential diagnosis of circadian rhythm sleep–wake disorders includes insomnia disorder, other sleep–wake disorders, and mood disorders.
Parasomnias and Sleep-Related Movement Disorders: The differential diagnosis of parasomnias can be complicated and should include other individual parasomnias, sleep-related breathing disorders, nocturnal seizures, panic attacks, other sleep–wake disorders, amnestic and dissociative syndromes, and numerous medical conditions.
Insomnia Disorder: Several psychiatric disorders are often comorbid with insomnia.
Hypersomnolence Disorder: Many disorders also occur with hypersomnolence disorder.
Narcolepsy: Narcolepsy is associated with psychiatric disorders in general, as well as many medical disorders.
Sleep-Related Breathing Disorders: Table 15-23 lists several disorders associated with sleep-related breathing disorders.
Circadian Rhythm Sleep–Wake Disorders: The circadian rhythm sleep–wake disorders can be associated with psychiatric and medical comorbidities; we list some of these in Table 15-23.
Parasomnias and Sleep-Related Movement Disorders: Each parasomnia has its own set of common comorbid diagnoses, and we list some examples in Table 15-23.
Insomnia Pharmacologic Treatment: For many years, benzodiazepines were the most commonly prescribed sedative–hypnotic medications for treating insomnia.
Cognitive-Behavioral Therapy for Insomnia (CBTi): As a treatment modality, CBTi uses a combination of behavioral and cognitive techniques to overcome dysfunctional sleep behaviors, misperceptions, and distorted, disruptive thoughts about sleep.
Universal Sleep Hygiene: A patient’s lifestyle can lead to a sleep disturbance.
Stimulus Control Therapy: Stimulus control therapy is a deconditioning paradigm that aims to break the cycle of problems commonly associated with difficulty initiating sleep.
Sleep Restriction Therapy: Sleep restriction therapy is a strategy designed to increase sleep efficiency by decreasing the amount of time spent awake while lying in bed.
Relaxation Therapy and Biofeedback: The most critical aspect of relaxation therapy is to perform it properly.
Cognitive Therapy: The cognitive aspect of insomnia treatment targets the negative emotional response to an appraisal of a sleep-related situation.
Paradoxical Intention: This is a cognitive technique with conflicting evidence regarding its efficacy.
Hypersomnolence Disorder: We usually treat hypersomnolence disorder with medication.
Narcolepsy: Currently, we cannot cure narcolepsy; however, the symptoms can be managed with either the wake-promoting substances modafinil or armodafinil, or traditional psychostimulants like amphetamines and their derivatives.
Breathing-Related Sleep Disorders: Positive Airway Pressure (PAP) is the preferred treatment for OSA.
Oral Appliance: Oral appliances represent another therapeutic option that is gaining popularity.
Positional Therapy: In some patients, sleep-disordered breathing occurs only in the supine position.
Surgical Intervention: Aggressive surgical treatments evolved soon after OSA’s pathophysiologic and potentially life-threatening consequences were recognized.
Weight Loss: Weight loss is known to help many patients.
CSA due to High-Altitude Periodic Breathing: We can treat CSA due to high-altitude periodic breathing with acetazolamide, which lowers serum pH and increases the respiratory drive.
Circadian Rhythm Sleep–Wake Disorders: Light Therapy, medication, chronotherapy, can be used.
In chronotherapy, we can halt the phase delay at the appropriate moment and maintain the desired synchrony can be a challenge.
Parasomnias and Sleep-Related Movement Disorders
Nightmare Disorder treatment using behavioral techniques can be helpful. Desensitization and exposure therapy, image rehearsal therapy, lucid dream therapy, and cognitive therapy can help address nightmare disorder.
Recurrent Isolated Sleep Paralysis improved sleep hygiene and assuring sufficient sleep are first-line therapies.
Sleep Enuresis treating sleep enuresis involves medication, behavioral interventions, or both.
Restless Legs Syndrome pharmacologically, the dopaminergic agonists pramipexole, rotigotine, and ropinirole are FDA approved and represent the treatment of choice.
Periodic Limb Movement Disorder Treatment pharmacotherapy for PLMD associated with RLS is the same as for RLS.
Sleep-Related Bruxism The usual treatment involves having the patient wear an oral appliance to protect the teeth during sleep.
Benign Sleep Myoclonus of Infancy This benign condition typically lasts a few days to several months and does not need to be treated.
Propriospinal Myoclonus at Sleep Onset Treatment with clonazepam or anticonvulsants may be useful.