Reframing the Psychosocial Context of Sleep Disturbance
Sleep problems in children and adolescents usually affect the rest of the family, causing sleep loss in parents and siblings who may in some respects suffer as much as the patient. Because misinformation and inappropriate blaming may confound the problem, the disturbed sleep of such patients needs to be addressed as a problem for the whole family.
Modifying family routines may be helpful. Good sleep hygiene, including well-maintained bedtime rituals such as bathing, storytelling, and rocking a small child can facilitate the winding-down process that is an important prelude to sleep. Occasionally, a child becomes overly dependent on a particular routine (e.g., repeated drinks of water every time he or she wakes up) and the parents must set limits. After an expected period of protest, most children relinquish the need for unnecessary attention. These benign disruptions must be differentiated from the more serious panic that some children experience with separation. For this latter kind of anxiety, parental access through the night may be necessary, at least for some time.
In adolescence, sleep is often shortened at both ends by social demands. In the evening, there is homework, socializing, school athletic events, and family life. In the morning, high school schedules often begin quite early, sometimes preceded by an even earlier bus ride. For many teenagers, the morning includes a formidable grooming ritual. Add to this the increasing tendency for teenagers to take part-time jobs after school, and the result is an epidemic of chronic sleep deprivation that is of increasing societal concern. Weekend sleeping-in may recover some of the lost sleep, but it tends to produce a phase delay that reinforces the tendency to stay up late during the week. In one experiment, high school students increased their IQ scores by 20 points after a week in which they systematically extended their sleep time.
In counseling teenagers, some flexibility and compromise are usually most effective. Adding naps during the day may improve alertness. A warning about the dangers of driving while sleepy, intoxicated, or both is important. Chronobiological interventions, such as light therapy, may be needed to counteract extremely delayed sleep. Outside the office, informed physicians may be able to influence public policy to help alleviate the problem, such as adopting sensible work rules for teens and scheduling school activities at reasonable hours.
Adults are not immune to the effects of social and occupational demands on sleep. Many working adults become progressively more sleep deprived as the workweek progresses. Educating patients about appropriate sleep hygiene and cognitive measures helps them regain some sense of control over their symptoms of fatigue (see Table 31-2). New knowledge of the health consequences of sleep deprivation can help motivate people to prioritize sleep as an important health behavior.
Persons with more persistent insomnia or those who appear to have severe emotional distress (as a result or cause of the sleep disturbance) may warrant evaluation by a mental health specialist.
As they do in children, sleep disorders in adults can affect family members. Partners and caregivers of patients with severe sleep disorders may need both emotional support and education about the nature of the sleep disturbance. Understanding the problem can help them to support the patient in following treatment recommendations.
Table 31-2.Cognitive behavioral treatment for insomnia. ||Download (.pdf) Table 31-2. Cognitive behavioral treatment for insomnia.
|Essential Cognitive Technique ||Essential Behavioral Change |
1. Talk about the frustration of not falling asleep and put this into perspective to facilitate a calm acceptance that will reduce frustration.
1. Bed or sleep restriction: time in bed limited to period of time the person can sleep; gradually increasing as sleep duration increases.
2. Education about the reality of insomnia as a potentially chronic or recurrent condition that may require behavioral adaptations.
2. Stimulus control: go to bed only when sleepy, use bedroom only for sleep and sex, out of bed if awake more than 30 minutes, remove stress and clutter from bedroom, no TV, reading, or eating in bed.
3. Teach technique of suppressing thoughts: mindful practice of putting disturbing thoughts aside while trying to rest.
3. Improved sleep hygiene: no caffeine, alcohol, or nicotine late for better sleep, mild-to-moderate exercise in the afternoon, naps OK if short (30–40 minutes) and not late afternoon.
Cognitive Behavioral Therapy
There is now ample evidence that cognitive behavioral therapy (CBT) for primary insomnia, especially over the long term, is at least as effective as sleep medication. The basic approach is to counsel patients to change critical beliefs that induce anxiety around falling asleep and to motivate them to change bedtime behaviors that may be perpetuating insomnia. The basic approach is to motivate patients to practice cognitive skills that will help minimize the worry and frustration that induces the physiologic stress response and impedes sleep. With time, patients can learn to suppress intrusive, unwanted thoughts and activate calming ones. Certain audio books or meditation CDs can help this practice. The “behavioral” component of CBT is the application of sleep hygiene measures. The National Sleep Foundation web site (www.sleepfoundation.org) has many helpful suggestions for people interested in improving sleep hygiene.
Insomnia has a good prognosis acutely, but can become chronic and recurrent. Acute insomnia can be treated with sedative–hypnotic drugs in conjunction with a sleep-hygiene program to maximize efficacy and reduce the dosage and duration of treatment (Table 31-3). These medications should not be used in pregnancy. People with secondary insomnia from depression, pain, substance abuse, medications, or circadian rhythm disorders are at risk for chronic insomnia if the acute symptoms do not resolve, and may need specific sleep therapies in addition to treating the underlying cause of sleeplessness.
Table 31-3.Sedative hypnotic medications. ||Download (.pdf) Table 31-3. Sedative hypnotic medications.
| ||Trade Name ||Type ||Half-life (hours) ||Dosing Range (mg) |
|Temazepam ||Restoril ||Benzodiazepine ||8–15 ||7.5–30 |
|Triazolam ||Halcion ||Benzodiazepine ||2–5 ||0.125–0.25 |
|Zolpidem ||Ambien ||Benzodiazepine agonist ||3 ||5–10 |
|Zolpidem CR ||Ambien CR ||Benzodiazepine agonist ||3 ||6.25–12.5 |
|Zaleplon ||Sonata ||Benzodiazepine agonist ||1 ||5–10 |
|Eszopiclone ||Lunesta ||Benzodiazepine agonist ||5–7 ||1–3 |
|Ramelteon ||Rozerem ||Melatonin agonist ||2–5 ||8 |
All benzodiazepines have sleep-promoting effects, although only five are currently marketed as sedative–hypnotics. These drugs work well for short-term treatment of insomnia; tolerance and dependence can develop quickly in some patients. However, some patients, especially those with an anxiety component to their insomnia, may benefit from long-term use. Benzodiazepines alter sleep structure, reducing both REM and slow-wave sleep, but the clinical significance of this is unknown. They are generally safe for younger adults, even in overdose, although combining them with alcohol and other depressants can produce potentially catastrophic synergistic effects. In older individuals, the safety profile is less benign; amnesia, ataxia, confusion, and worsening sleep apnea may develop.
Choosing one benzodiazepine over another for a specific patient is partly based on drug half-life, and this will require prioritizing goals. Short-acting drugs such as triazolam are useful for the treatment of sleep-onset insomnia, but many individuals will have rebound insomnia in the second half of the night or anxiety the following day. Longer-acting drugs may work better for middle-of-the-night insomnia, but some persons will have morning “hangover” effects. Longer-acting drugs can be particularly troublesome in the elderly, as drug accumulation will lead to ataxia, confusion, and daytime sedation. Temazepam and estazolam are intermediate in half-life and represent reasonable compromises for patients with sleep maintenance insomnia who get hangover effects from the longer-acting drugs.
These drugs should not be prescribed for patients with sleep apnea, severe respiratory disease, gait and balance problems, or alcohol abuse. Doses should be kept low in elderly patients and those with hepatic insufficiency. Rebound insomnia can complicate withdrawal from these drugs, causing patients to return to their use.
Benzodiazepine Receptor Agonists
These drugs are structurally unrelated to benzodiazepines, but share some characteristics with them due to the fact that they have agonist activity at more sleep-specific benzodiazepine receptors (GABAα). They have varying half-lives (eszopiclone and zolpidem, 1.4–3.8 hours; zaleplon, 1.0 hours), so they are most suitable for patients with sleep-onset or initial sleep maintenance problems. These medications preserve natural sleep architecture, which provides at least a theoretical advantage over benzodiazepines. Precautions similar to benzodiazepines apply to these medications in terms of dependency, abuse, and adverse effects. Eszopiclone (Lunesta) and zolpidem in continuous-release formulation (Ambien CR) have been shown to retain efficacy over 6 months, and are the only benzodiazepine or benzodiazepine receptor agonists that are FDA-approved for chronic insomnia (see Table 31-3).
Ramelteon (rozerem) is a potent melatonin agonist that is the first nonscheduled, prescription sedative–hypnotic. It has the capacity to shorten sleep latency in people with sleep-onset insomnia, but does not help people stay asleep. It has no potential for abuse, tolerance, or physical dependency, and does not cause ataxia, confusion, or worsen sleep-related breathing disorders. In the clinical trials, the drug was associated with an increase in prolactin in a few subjects. Ramelteon is prescribed at 8 mg before bedtime. Higher doses have not been shown to improve response, but there is some evidence that the response improves over several weeks. Combining ramelteon with CBT or sleep hygiene measures seems a benign and potentially effective long-term strategy for many insomnia patients.
Many clinicians use sedating antidepressants such as trazodone, mirtazapine, doxepin, and amitriptyline for long-term treatment of insomnia, especially when chronic pain, depression, or anxiety are comorbid conditions. Theoretical advantages over benzodiazepines include less cognitive impairment, more slow-wave sleep and treatment of underlying depression if present. Tolerance to the sedating effects of these drugs develops in some patients. Side effects are numerous, and special care must be taken in elderly patients, especially with amitriptyline, because of its potent anticholinergic effects. There are data indicating efficacy of doxepin and mirtazepine at very low doses (under 10 mg) that may enhance sleep while minimizing side effects.
Diphenhydramine is sedating and is found in many OTC preparations. It is generally safe and effective for short-term use, although tolerance develops very quickly after nightly ingestion. Diphenhydramine has some anticholinergic properties and can cause confusion and urinary retention in elderly persons.
Complementary and Alternative Medicines
The pineal hormone melatonin, sold in this country as a food supplement, has sleep-promoting effects in some people. Melatonin is the best studied of the food supplements and OTC remedies for insomnia and is commonly available at health food stores and pharmacies. Patients should be cautioned that melatonin remains an experimental drug and a naturally occurring hormone with potential neuroendocrine, immunologic, and reproductive effects, although it appears to be quite safe with short-term administration. Results from placebo-controlled trials of melatonin for insomnia in various populations suggest it has only modest efficacy, though some individuals respond quite well. Moreover, when taken at the correct point in the circadian cycle, melatonin can be an effective remedy for jet lag and can help people adapt to shift work. Commercial preparations may contain 0.5–5 mg of melatonin per capsule (sometimes in combination with vitamins). The most effective dose is unknown, and may vary from person to person.
Sleep–wake cycle disorders can be treated with scheduled exposure to bright natural or artificial light. Patients with advanced sleep phase syndrome need to have a corrective phase delay with exposure to bright light in the evening. Bright light exposure must be carefully timed so that the circadian pacemaker is phase shifted to move sleep propensity to later hours, allowing these patients to be more alert in the evening. For the more common DSPS, patients need to force themselves awake by receiving appropriately timed light exposure, which should begin around the time they want to wake up. The first few days are very difficult, but after several mornings of 30-minute light exposure, patients can begin falling asleep before midnight and wake up for morning classes or work. For safety and efficacy, patients should use special fixtures marketed to treat SAD (“SAD lights”). Light fixtures are available from numerous commercial vendors.
Melatonin may achieve this same goal with greater convenience, although probably with less robustness and with opposite timing. For example, people with DSPS who want to advance the timing of their sleep might take synthetic melatonin (0.5–1 mg) in the evening at 9:00 or 10:00 p.m.—hours before their own phase-delayed melatonin secretion begins and more synchronous with the timing of melatonin onset in people with earlier sleep—to reset their body clock to the desired phase position. Ramelteon can be effective when used in this same way. These treatments may also be of value in helping shift workers, time zone travelers and persons with visual impairments adapt to a new sleep–wake schedule. Shift workers should be counseled to try to maintain their workweek sleep schedule on their days off work, although this can be difficult because of family and social demands. Some cases may require referral to a sleep specialist.
The Sleepy Patient: Disorders of Excessive Somnolence
Patients are more likely to complain about insomnia than about excessive daytime sleepiness. They may complain of fatigue or feeling tired, but sleepiness per se may not be acknowledged without specific inquiry by the clinician. Two questions that should be included in every sleep-related “review of systems” are:
Do you struggle to stay awake while driving, reading, watching television and movies, or listening to lectures during daytime hours?
Do you feel tired, fatigued, and lacking in energy during the day, especially in the morning?
If the answer is “yes” to either question, follow-up questions should determine if the problem is inadequate nighttime sleep, drowsiness from medications, narcolepsy, or sleep-related breathing problems. The Epworth Sleepiness Scale (see Table 31-4) is a validated instrument used to assess pathological sleepiness in patients. It is a questionnaire that scores a patient’s tendency to fall asleep in eight hypothetical situations on a 0–3 scale, with zero scored for “not at all likely to doze” and three for “extremely likely to doze” in each situation. A cumulative score above 10 suggests the need for referral to a sleep disorders specialist. A discussion of driving or operating machinery while sleepy should also be initiated. Excessive daytime sleepiness requires a thoughtful diagnostic approach.
Sleep-Related Breathing Problems
Obstructive Sleep Apnea Syndrome and Snoring
CASE ILLUSTRATION 3
Jim is 64 years old and visits his primary care physician for a follow-up of his hypertension treatment. His wife has accompanied him to the office to ask whether there is any medical explanation for her husband’s fatigue. Close questioning reveals that the fatigue predates the antihypertensive medication and is not clearly attributable to the drug. The tiredness is accompanied by true sleepiness; Jim can fall asleep anytime during the day while reading or driving. He scores 12 on the Epworth Sleepiness Scale, indicating significant daytime sleepiness. He minimizes the problem, yet acknowledges having trouble with memory and concentration. He falls asleep easily after getting into bed at night, but his wife describes him as a restless sleeper who snores loudly.
As a late middle-aged man with hypertension and daytime sleepiness, Jim needs to be referred to a sleep laboratory to rule out OSA, which would be the overwhelmingly most likely diagnosis in a sleepy middle-aged man. Although more common in men, the incidence of OSA increases in middle-aged women, especially with higher body mass indices. Fatigue, rather than sleepiness, is more likely to be the chief complaint in women with OSA.
Obstructive sleep apnea (OSA) is increasingly recognized as a common, important, and treatable disease. Originally thought of as a relatively rare disturbance in severely obese patients with the classic “Pickwickian Syndrome” of somnolence, hypoventilation, and polycythemia, OSA is now known to represent a range of upper airway narrowing in sleep. Epidemiologic studies in middle-aged adults show a prevalence of 2% of women and 4% of men, but these estimates are likely very low, especially given recent trends in increased body weight.
Obstructive sleep apnea is a significant cause of fatigue, daytime somnolence, and cardiovascular morbidity in adults. Nighttime symptoms of OSA include loud snoring (often beginning early in adulthood and worsening with age and increased weight), apnea witnessed by the sleeping partner, snorting or gagging sounds, restlessness, night sweats, and abrupt awakenings with a feeling of choking. Electroencephalogram arousals triggered by the apneic episodes cause interrupted sleep quality, excessive daytime sleepiness, and subjective fatigue. There is also mounting evidence of objective deficits in cognitive processing, attention, and executive functions. Although less common, insomnia may be the presenting complaint. Patients are often unaware of the severity of the sleep disruption and may attribute their sleepiness to some other cause, such as working too hard. The degree of sleepiness is variable, but is a key symptom. Questions about dozing while reading or watching television, nodding off at the wheel, or poor concentration need to be posed directly to patients. Assessment with a standardized scale measuring daytime sleepiness such as the Epworth Sleepiness Scale may be helpful (Table 31-4).
Table 31-4.Epworth Sleepiness Scale ||Download (.pdf) Table 31-4. Epworth Sleepiness Scale
|How often are you likely to doze off or fall asleep in the following situations, in contrast to feeling just tired? This refers to your usual way of life in recent times. Even if you have not done some of these things recently, try to work out how they would have affected you. Use the following scale to choose the most appropriate number for each situation: |
|0 = would never doze |
|1 = slight chance of dozing |
|2 = moderate chance of dozing |
|3 = high chance of dozing |
|Sitting and reading ||_____ |
|Watching TV ||_____ |
|Sitting, inactive in a public place (e.g., a theater or a meeting) ||_____ |
|As a passenger in a car for an hour without a break ||_____ |
|Lying down to rest in the afternoon when circumstances permit ||_____ |
|Sitting and talking to someone ||_____ |
|Sitting quietly after lunch without alcohol ||_____ |
|In a car, while stopped for a few minutes in traffic ||_____ |
|TOTAL ||_____ |
|Source: From MW Johns. Sleep 1991;14:540. |
Cardiovascular morbidity and mortality has now been strongly associated with severe OSA (Apnea Hypopnea Index [AHI] > 30). Cardiovascular manifestations of OSA include hypertension, heart failure, stroke, and possibly myocardial infarction. Although not a randomized trial, in the long-term observational study from Spain, continuous positive airway pressure (CPAP) treatment reduced the incidence of cardiovascular events, thus strengthening the rationale for CPAP treatment, particularly in severe OSA.
Diagnosis of OSA begins with a clinical assessment, but a sleep study is necessary to confirm the diagnosis and severity of OSA. A formal PSG in a sleep laboratory remains the gold standard for diagnosis, but less-detailed home testing using portable technology that does not require a sleep technician to be in attendance can provide diagnostic information in some cases. When PSG in the sleep laboratory confirms the diagnosis of OSA, there is an opportunity for the patient to try CPAP treatment with a supervised mask fitting by an experienced sleep technologist. If the diagnosis is made with a home-based study, it is still best if they come to the sleep laboratory for PSG-monitored CPAP mask fitting and pressure titration.
Treatment options should be individualized depending on the severity of OSA, and also patient symptoms and comorbidities. Initial treatments to reduce OSA include weight loss, avoidance of sedating medications or alcohol near bedtime, and appliances to prevent back sleeping (tennis balls sewn in the back of nightshirt are an inexpensive option). Continuous positive airway pressure (with either mask or nasal pillows) remains the most common and effective treatment for improving sleep quality, reducing daytime symptoms, and reducing cardiovascular risk. In patients who cannot tolerate CPAP, other treatment options are typically ENT surgery or oral (dental) devices. A variety of surgical techniques are available, but the low success rates make surgery a less appealing initial treatment in most cases. Some adults will have significant tonsillar hypertrophy and be better surgical candidates. Tracheotomy has a very high success rate, but is a morbid procedure that has been much less frequently performed since CPAP has a high success rate. Oral appliances fitted and adjusted by an experienced dentist can maintain the tongue in a more forward position to improve airway patency in mild-to-moderate cases of OSA or for those who cannot tolerate CPAP (see Figure 31-1). Patients who have surgical or dental treatments should have a follow-up sleep study to document the efficacy of those treatments. The correct diagnosis and effective treatment of OSA can help improve quality of life, prevent serious accidents, and reduce cardiovascular risk.
Various positive airway pressure interfaces for patients who are CPAP-intolerant.
Source: McKean s, Ross JJ, Dressler DD, Brotman DJ, Ginsberg JS. Principles and Practice of Hospital Medicine. Accessed at www.accessmedicine.com.
Snoring is a common sleep symptom. Apart from being a nuisance to bed partners, snoring may herald the development of serious respiratory obstruction during sleep along a continuum of partial to complete airway closure. Men snore more than women, but the prevalence increases in women after menopause. Aside from male gender, other factors associated with snoring include anatomic narrowing of the airway, body habitus (obesity) and sleep position (supine), the use of alcohol and sedative–hypnotics, endocrinopathy (hypothyroidism, acromegaly), smoking, and, possibly, genetic factors. Since snoring is a common presenting symptom of OSA, it is important to ask questions regarding apnea and OSA symptoms in any patient who complains of snoring. Similarly to OSA, initial treatments to reduce snoring include weight loss, the avoidance of sedating medications and alcohol, and appliances to prevent back sleeping. If a sleep study confirms the absence of apnea, but snoring remains disruptive, then potential interventions include oral (dental) appliances, surgery, and nasal valve resistors. Oral appliances thrust the tongue or mandible forward during sleep, and are best fitted by an experienced dental provider. Ear, nose, and throat surgical techniques to reduce the uvula and soft palate are available, but the long-term effects are unknown. Because surgery can eliminate the noise of snoring without relieving airway obstruction, sleep study evaluation should be performed to rule out OSA prior to surgery.
Obstructive sleep apnea also occurs in 1–3% of younger children. Tonsil and adenoid hypertrophy are thought to contribute, since resection of these results in relief from OSA in the majority of children. However, the size of these tissues does not correlate with the presence or degree of OSA. Obstructive sleep apnea should also be considered in children with craniofacial abnormalities, macroglossia, neuromuscular disease, and obesity. As in adults, loud snoring, restless sleep, and witnessed pauses in breathing are symptomatic. Children with OSA may not complain of sleepiness; instead they may manifest daytime irritability, hyperactivity, decreased attention, or declining school performance. Secondary nocturnal enuresis is another important symptom of OSA. Parents should be asked about snoring and breath-holding during sleep. Consultation with an ENT specialist is advised whenever OSA is suspected. Tonsillectomy is curative in up to 90% of cases and should be the first step in treatment. Other causes of OSA can be treated with CPAP, though careful monitoring for midface hypoplasia should be undertaken in children aged less than 12 years. Surgical approaches such as tracheostomy or craniofacial reconstruction may be necessary in rare cases.
Central sleep apnea (CSA) is defined as the cessation of airflow for at least 10 seconds with no ventilatory effort. In adults, central apnea accounts for approximately 5% of apnea cases, so CSA is much less common than OSA. Patients with predominantly central apnea tend to complain more of insomnia than of hypersomnolence, which may be a helpful distinguishing feature from OSA. The differential diagnosis of CSA includes congestive heart failure (CHF), hypoventilation (from chest wall, neuromuscular, or CNS disease), stroke, nasal obstruction, GERD, postnasal drip, and opiates. Congestive heart failure patients with reduced left ventricular function who show waxing and waning respiration during sleep are a particular type of CSA called Cheyne–Stokes respiration, which has been associated with reduced survival. Optimal treatment is unclear, but options include servo-ventilation (a form of bilevel), CPAP, and nocturnal oxygen. In patients with hypoventilation due to neuromuscular disease, chest wall disease or neurodegenerative diseases that affect the CNS respiratory control, bilevel treatment can address both the central apnea and hypoventilation. Gastroesophageal reflux disease and postnasal drip are infrequent causes of CSA, but should be addressed if no other causes are present. Opiates can cause CSA in a minority of patients, and the risk appears to be dose related; these cases may be more frequently seen because more patients are being treated for chronic pain issues. Lastly, the term “complex” sleep apnea has been used to describe OSA patients who develop central apnea when they are treated with CPAP. Complex sleep apnea has been estimated to occur in 6% of OSA patients treated with CPAP, but usually resolves over time with continued CPAP treatment. If necessary, both opiate CSA and complex apnea can be treated with a bilevel machine that delivers a back-up rate. Complex sleep apnea remains difficult and challenging, but is much less common than OSA.
Central sleep apnea can also be seen in prematurity, neonates, and children, but the differential diagnosis is broad and complex. A detailed discussion is beyond the scope of this review. The differential diagnosis ranges from apnea of premature infants, to GERD, to neurologic syndromes, and to hypoventilation syndromes such as congenital central hypoventilation syndrome (CCHS is caused by a PHOX2b mutation). Pediatric CSA may contribute to sudden infant death syndrome (SIDS). The cause of SIDS remains a mystery, but a wide variety of intrinsic and extrinsic factors are thought to play a role. A public information campaign to encourage mothers to avoid placing infants prone face down (“Back to Sleep”) has been ongoing since 1995, and subsequent epidemiologic assessments have shown a dramatic decrease in the number of SIDS cases.
Narcolepsy is a disorder in which elements of sleep intrude into wakefulness and wakefulness intrudes into sleep. It consists of four primary symptoms: excessive daytime sleepiness, cataplexy, and less frequently, sleep paralysis and hypnagogic hallucinations. It occurs in approximately 1 in 2000 people. Narcolepsy usually begins in the teens or early twenties, but onset as old as the eighth decade has been reported. Prevalence is roughly equal in men and women, and a formal diagnosis is frequently not made until 5 or 10 years after the onset of symptoms.
The cardinal symptom is sleepiness that comes on suddenly and irresistibly in what are called “sleep attacks.” Low-grade, persistent sleepiness affecting concentration, thinking, and memory may also occur. Sleep episodes may be brief (several minutes to an hour), but the person usually awakens feeling more alert, and the next sleep episode usually does not come on for at least an hour. Narcolepsy can impair nighttime sleep with frequent awakenings, vivid nightmares, and intense, realistic hallucinations prior to sleep onset (hypnagogic). The hallucinations are usually visual, but may involve any sensory modality. Cataplexy, the brief, sudden loss of muscle tone leading to neck muscle weakness, buckling of the knees, or rarely, complete collapse, is triggered by strong emotional reactions such as laughter or anger. Sleep paralysis is transient immobility on awakening, often accompanied by the vivid hallucinations of REM dreaming, all while the patient is lying in bed perfectly alert. The spells are brief, lasting several minutes at most. If the syndrome is not diagnosed and treated, people with the disorder may be perceived as lazy and unmotivated due to persistence of significant symptoms. Additional sequelae of a missed diagnosis include poor school and work performance, social stigma, and accidents.
Hypocretin-1 (Orexin), an alerting neuropeptide secreted by the hypothalamus, has been shown to play an important role in this disorder; a low CSF hypocretin-1 concentration below 110 pg/mL can be used as a diagnostic criteria. A combination of infectious, immune, and genetic factors appear to play a role in narcolepsy, and a human leucocyte antigen (HLA) linkage to DQB1∗0602 has been demonstrated. Confirmation of the diagnosis should be undertaken with overnight PSG followed by a multiple sleep latency test (MSLT). The finding of mean sleep latency less than 5 minutes and REM periods during at least two naps confirms the diagnosis. Since diagnosis can be challenging in atypical cases, the testing should be supervised by a sleep disorders specialist who can integrate both clinical history and sleep testing data. Without the symptoms of cataplexy, the diagnosis is more difficult. An accurate diagnosis is advisable, since narcolepsy is a life-long condition that often requires a commitment to long-term treatment.
Excessive daytime somnolence (EDS) of narcolepsy may be treated with modafinil (200–400 mg) or armodafinil (150–250 mg) each morning, which can significantly improve daytime function. Sodium oxybate (Xyrem), a relative of gamma-hydroxybutyrate (GHB), is FDA-approved to treat cataplexy, and is used by some clinicians to treat EDS. The older CNS stimulants, dextroamphetamine (5–60 mg/day), methamphetamine (20–25 mg/day), and methylphenidate (10–60 mg/day), are commonly used as well. Scheduling brief naps into one’s daily routine can be very helpful in improving function and reducing sleep attacks. Cataplexy and sleep paralysis can also be treated with REM-suppressant drugs such as TCAs and selective serotonin reuptake inhibitors (SSRIs). Joining a narcolepsy support group will help patients cope with the psychological sequelae, which result from the social and occupational stigma of having little control over sleep onset.
Kleine–Levin Syndrome is a condition characterized by periods of excessive hypersomnia and increased sleep time with frequent recurrences of the symptoms. The peculiar disorder is usually seen in people in their late adolescent years. These episodes can last from less than a week to 30 days. While the disease is active, some people experience other symptoms of excessive eating and hypersexuality. Social aspects of the patient’s life will suffer during the active periods, such as not attending school or work. In between the flare-ups, the patient functions normally in all respects, but recurring symptomatic periods will begin to show sporadically. In most cases, the frequency and intensity of the spells decreases as the adolescent matures and eventually will resolve itself. It is thought to be caused by a virus or local encephalitis in the diencephalon region. Amphetamines, methlyphenidates, and modafinil have been used as treatment, but usually they are only effective for a few hours.
Patients With Abnormal Nighttime Behavior: The Parasomnias
An accurate diagnosis of the underlying cause of bizarre nighttime behavior can be challenging. Diagnostic considerations include seizure disorders, psychosis, delirium, and intoxication. Parasomnias, the least common class of sleep disorders, but perhaps the most dramatic in their presentation, need to be included in the differential.
Sleep terrors (pavor nocturnus) are very disconcerting to parents but are usually quite benign. The child (usually aged 3–6 years) awakens with a scream and appears terrified, with signs of autonomic arousal: eyes bulging, heart racing, and sweating. Most episodes last only a few minutes. Attempts at comfort are to no avail and may exacerbate or prolong the episode. In the morning, the child is amnestic for the episode or may have a fragmentary memory of a bad dream. Sleep terrors involve partial arousals from stage 4 (deep) sleep. Reassurance of the parents is the usual treatment; in persistent night terrors, however, benzodiazepines may be justified.
True nightmares occur in REM sleep and occasionally occur in stage 1 or 2 sleep. The nightmares involve a narrative story people can often relate once awake. This story is not necessarily a recall of the day’s actual events but a stressful episodic account that can be linked to the day’s events. Nightmares are usually a transient problem, presumably triggered by a stressful personal incident. Persistent nightmares are a serious concern, however, and may require referral to a mental health specialist.
Post traumatic stress disorder has many accompanying symptoms, and one indication the patient is suffering from the disorder is persistent recurring nightmares (see Chapter 26). The nightmares of PTSD patients are distinguished from other nightmares because they are narratives of the actual traumatic event, usually set in a previous time, and mimic the memory of the experience. For example, many wartime veterans have persistent nightmares that they are on the battlefield, and they feel all the fear and terror they felt when they were actually taking part in the war. When a person is stressed from normal life expectancies, dreaming can be cathartic and help to sort out feelings. For people with PTSD, dreaming about what had caused them so much stress is detrimental and just reinforces the traumatic events they experienced. The other dreams they have that do not relate directly to the trauma also have negative emotional contents of threat, aggression, and are extremely vivid compared with control populations. There is no specific treatment for the nightmares that patients with PTSD experience, but by treating the disorder with medications and cognitive behavior therapy, the nightmare frequency will reduce. Controlled trial data and clinical experience supports the use of alpha-1 adrenergic receptor antagonists (e.g., prazocin) in reducing the intensity and frequency of nightmare in PTSD. Alpha-2 receptor agonists (e.g., clonidine and guanfacine) may help sleep and other autonomic arousal symptoms in PTSD. Antidepressant and mood-stabilizing atypical antipsychotic medications are generally used to help with daytime symptoms but can sometimes help sleep as well.
Like sleep terrors, sleepwalking is a partial arousal from stage 4 sleep. Occasional sleepwalking is very common in childhood and may follow a period of stress or sleep deprivation. The main concern is accidental injury, and protective measures, such as placing gates in front of a stairwell, may be needed.
In this syndrome, loss of normal REM sleep muscle atonia leads to dream-enactment behavior. The diagnosis is made in patients with sudden bursts of excited, intense, sometimes violent activity during sleep. The syndrome may be subtle, in the form of leg movements and talking, or dramatic, with punching, kicking, grabbing, strangling, running, and moving about the bedroom. Dreams of an intense, violent nature are typical. REM behavior disorder is seen frequently in toxic or metabolic delirium, but the most persistent forms of the syndrome occur in old age, and are presumed to be idiopathic, ischemic, or neurodegenerative in etiology. The syndrome is especially common in patients with PD and dementia with Lewy Bodies and can start to develop even before other signs of the diseases. Once documented by PSG, the condition can be effectively treated with clonazepam, although there are reports of other agents, such as cholinesterase inhibitors, working as well.
Movement Disorders in Children
Other movement disorders such as rhythmic sleep disorders (head banging, body rocking, and head rolling) interestingly do not cause insomnia, but are usually brought to the examiner’s attention by the caregiver for hazardous concerns. Rhythmic movements are observed in normal children at 9 months of age, and the occurrence decreases by 50% by the age of 18 months. By 4 years of age, the prevalence is only 8%. These movement disorders are usually seen on PSGs just before sleep onset and can persist into stage 1 non-REM sleep or after spontaneous arousal. Because these various movements can disrupt sleep, the child experiences excessive daytime sleepiness. Fortunately, between the ages of 2 and 4 years, the intensity decreases, and usually resolves spontaneously. Rarely is this disorder observed in healthy adolescents or adults.
Epileptic discharges often occur during sleep and may be misinterpreted as other sleep arousal phenomena, such as somnambulism or pavor nocturnus. Onset of a seizure disorder can be at any age, but most commonly will begin in adolescence. Epileptic events generally occur in the non-REM stages of sleep and rarely in the REM stages. Nocturnal seizures may produce arousals that may or may not be remembered by the patient, and depending on the frequency and duration of arousals, can cause daytime sleepiness. Postictal sleepiness can also persist into daytime. In fact, daytime sleepiness in patients with epilepsy is not always attributable to antiepileptic medications.
There are particular types of seizures more prone to occur during sleep. Benign childhood epilepsy with centrotemporal spikes (BECT), or benign Rolandic epilepsy, is triggered by sleep and is recognized by unilateral facial paresthesias with tonic or tonic–clonic movement. If the pharyngeal muscles are involved, these symptoms will be coupled with drooling.
Seizures that involve the frontal lobe present themselves as peculiar behavior involving motor activity and unusual vocalizations. Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) involves thrashing activity with spastic posture and speaking vociferously. These patients may also sleep walk and become violent. Nocturnal paroxysmal dystonia involves tonic spasms of the limbs and laughter as the vocalization. Pure tonic seizures also involve the frontal lobes and appear as insomnia or hypersomnia because of periodic arousals.
Diagnosis of seizure disorder involves routine EEGs or prolonged video EEGs combined with clinical symptoms to classify the seizure type. Anticonvulsant medications are given to those diagnosed to prevent further electrical discharges.
DIAGNOSTIC EVALUATION & REFERRAL
Most types of insomnia are diagnosed on the basis of history, and PSG evaluation of insomnia is rarely necessary or reimbursed. Clinicians should be able to accurately diagnose and treat transient insomnia without referral or consultation. Referral to a sleep specialist should be considered for patients with persistent symptoms who do not respond to initial treatment. Patients with severe RLS and chronobiological sleep disorders should usually be referred. Sleep-related breathing problems, periodic leg movements, narcolepsy, and the adult parasomnias all require PSG validation and expert management and will require a sleep specialist to validate the diagnosis and initial treatment plans.