id
stringlengths 14
14
| page_content
stringlengths 10
2.06k
| source
stringclasses 1
value |
|---|---|---|
27d76ccd0f4f-0 | tors can contribute to insomnia.
The increased prevalence of insomnia in olde r adults is partly explained by the higher
incidence of physical health problems with aging. Changes in sleep patterns associated with
the normal developmental process must be diff erentiated from those exceeding age-related
changes. Although polysomnography is of limit ed value in the routine evaluation of in-
somnia, it may be more useful in the differen tial diagnosis among older adults because the
etiologies of insomnia (e.g., sleep apnea) are more often identifiable in older individuals. | dsm5.pdf |
fd5a79147a5b-0 | 366 Sleep-Wake Disorders
Risk and Prognostic Factors
While the risk and prognostic factors discussed in this section increase vulnerability to in-
somnia, sleep disturbances are more likely to occur when predisposed individuals are ex-
posed to precipitating events, such as major lif e events (e.g., illness, separation) or less
severe but more chronic daily stress. Most individuals resume normal sleep patterns after
the initial triggering event ha s disappeared, but others—perha ps those more vulnerable to
insomnia—continue experiencing persistent sleep difficulties. Perpetuating factors such as
poor sleep habits, irregular sleep scheduling, an d the fear of not sleeping feed into the in-
somnia problem and may contribute to a vicious cycle that may induce persistent insomnia.
Temperamental. Anxiety or worry-prone personality or cognitive styles, increased arousal
predisposition, and tendency to repress emot ions can increase vulne rability to insomnia.
Environmental. Noise, light, uncomfortably high or low temperature, and high altitude
may also increase vulnerability to insomnia.
Genetic and physiological. Female gender and advancing age are associated with in-
creased vulnerability to insomn ia. Disrupted sleep and insomnia display a familial dispo-
sition. The prevalence of insomnia is hi gher among monozygoti c twins relative to
dizygotic twins; it is also higher in first-degree family members comp ared with the general
population. The extent to which this link is inherited through a genetic predisposition,
learned by observations of pare ntal models, or established as a by-product of another psy-
chopathology remains undetermined.
Course modifiers. Deleterious course modifiers incl ude poor sleep hygiene practices
(e.g., excessive caffeine use, irregular sleep schedules).
Gender-Related Diagnostic Issues | dsm5.pdf |
fd5a79147a5b-1 | (e.g., excessive caffeine use, irregular sleep schedules).
Gender-Related Diagnostic Issues
Insomnia is a more prevalent complaint among females than among males, with first onset
often associated with the birth of a new child or with menopause. Despite higher preva-
lence among older females, polysomnographic studies su ggest better preservation of
sleep continuity and slow-wave sleep in older females than in older males.
Diagnostic Markers
Polysomnography usually shows impairments of sleep continuity (e.g., increased sleep la-
tency and time awake after sleep onset and de creased sleep efficiency [percentage of time
in bed asleep] and may show increased stage 1 sleep and decreased stages 3 and 4 sleep.
The severity of these sleep im pairments does not always ma tch the individual’s clinical
presentation or subjective complaint of poor sleep, as individuals with insomnia often un-
derestimate sleep duration and overestimate wakefulness relative to polysomnography.
Quantitative electroencephalographic analyses may indicate that individuals with insom-
nia have greater high-frequency electroencepha lography power relative to good sleepers
both around the sleep onset period and duri ng non–rapid eye movement sleep, a feature
suggestive of increased cortical arousal. Individual s with insomnia disorder may have a
lower sleep propensity and typically do not show increased daytime sleepiness on objec-
tive sleep laboratory measures compared wi th individuals without sleep disorders.
Other laboratory measures show evidence, although not consistently, of increased
arousal and a generalized activation of the hypothalamic-pituitary-adrenal axis (e.g., in-
creased cortisol levels, heart rate variability, reactivity to stre ss, metabolic rate). In general,
findings are consistent with the hypothesis that increased physiological and cognitive
arousal plays a significant role in insomnia disorder. | dsm5.pdf |
fd5a79147a5b-2 | arousal plays a significant role in insomnia disorder.
Individuals with insomnia di sorder may appear either fatigued or haggard or, con-
versely, overaroused and “wired.” However, there are no consistent or characteristic
abnormalities on physical examination. Ther e may be an increased incidence of stress- | dsm5.pdf |
b090afd45084-0 | Insomnia Disorder 367
related psychophysiological symptoms (e.g., tension headache, muscle tension or pain,
gastrointestinal symptoms).
Functional Consequences of Insomnia Disorder
Interpersonal, social, and occupational problems may develop as a result of insomnia or
excessive concern with sleep, increased daytim e irritability, and poor concentration. De-
creased attention and concentrat ion are common and may be related to higher rates of ac-
cidents observed in insomnia. Persistent in somnia is also associated with long-term
consequences, including increased risks of ma jor depressive disorder, hypertension, and
myocardial infarction; increased absenteeism and reduced productivity at work; reduced
quality of life; and increased economic burden.
Differential Diagnosis
Normal sleep variations. Normal sleep duration varies considerably across individuals.
Some individuals who require little sleep (“short sleepers”) may be concerned about their
sleep duration. Short sl eepers differ from individuals with insomnia disorder by the lack of
difficulty falling or staying asleep and by the absence of characteristic daytime symptoms
(e.g., fatigue, concentration pr oblems, irritability). However, some short sleepers may desire
or attempt to sleep for a longer period of time and, by prolonging time in bed, may create an
insomnia-like sleep pattern. Clinical insomnia also should be distinguished from normal,
age-related sleep changes. Insomnia must also be distinguished from sleep deprivation due
to inadequate opportunity or circumstance for sleep resulting, for example, from an emer-
gency or from professional or family obligations forcing th e individual to stay awake.
Situational/acute insomnia. Situational/acute insomnia is a condition lasting a few days
to a few weeks, often associated with life events or with changes in sleep schedules. These
acute or short-term insomnia symptoms may also produce si gnificant distress and inter- | dsm5.pdf |
b090afd45084-1 | acute or short-term insomnia symptoms may also produce si gnificant distress and inter-
fere with social, personal, and occupational functioning. When such symptoms are fre-
quent enough and meet all other criteria exce pt for the 3-month duration, a diagnosis of
other specified insomnia disorder or unspecified insomnia disorder is made.
Delayed sleep phase and shift work types of circadian rhythm sleep-wake disorder.
Individuals with the delayed sleep phase type of circadian rhythm sl eep-wake disorder re-
port sleep-onset insomnia only when they try to sleep at socially normal times, but they do
not report difficulty falling asleep or stayin g asleep when their bed and rising times are
delayed and coincide with thei r endogenous circadian rhythm. Shift work type differs from
insomnia disorder by the history of recent shift work.
Restless legs syndrome. Restless legs syndrome often produces difficulties initiating
and maintaining sleep. However, an urge to move the legs and any accompanying unpleas-
ant leg sensations are features that differentiate this disorder fr om insomnia disorder.
Breathing-related sleep disorders. Most individuals with a breathing-related sleep dis-
order have a history of loud snoring, breath ing pauses during sleep, and excessive daytime
sleepiness. Nonetheless, as many as 50% of individuals with sleep apnea may also report
insomnia symptoms, a feature that is more common among females and older adults.
Narcolepsy. Narcolepsy may cause insomnia complaints but is distinguished from in-
somnia disorder by the predominance of sy mptoms of excessive daytime sleepiness, cat-
aplexy, sleep paralysis, and sleep-related hallucinations.
Parasomnias. Parasomnias are characterized by a comp laint of unusual behavior or events
during sleep that may lead to intermittent awakenings and difficulty resuming sleep. | dsm5.pdf |
b090afd45084-2 | during sleep that may lead to intermittent awakenings and difficulty resuming sleep.
However, it is these behavioral events, rather than the insomnia per se, that dominate the
clinical picture. | dsm5.pdf |
a1cbd36079b5-0 | 368 Sleep-Wake Disorders
Substance/medication-induced sl eep disorder, insomnia type. Substance/medication-
induced sleep disorder, insomnia type, is distinguished from insomnia disorder by the fact
that a substance (i.e., a drug of abuse, a medica tion, or exposure to a toxin) is judged to be
etiologically related to the insomnia (see “Substance/Medicatio n-Induced Sleep Disor-
der” later in this chapter). Fo r example, insomnia occurring only in the context of heavy
coffee consumption would be diagnosed as caffeine-induced sleep disorder, insomnia
type, with onset during intoxication.
Comorbidity
Insomnia is a common comorbidity of many medical conditions, including diabetes, cor-
onary heart disease, chronic obstructive pulm onary disease, arthritis, fibromyalgia, and
other chronic pain conditions. The risk relati onship appears to be bidirectional: insomnia
increases the risk of medical conditions, and medical problems increase the risk of insom-
nia. The direction of the relationship is not always clear and may change over time; for this
reason, comorbid insomnia is the preferred terminology in th e presence of coexisting in-
somnia with another medical co ndition (or mental disorder).
Individuals with insomnia disorder frequent ly have a comorbid mental disorder, par-
ticularly bipolar, depressive, and anxiety diso rders. Persistent insomnia represents a risk
factor or an early symptom of subsequent bi polar, depressive, anxi ety, and substance use
disorders. Individuals with insomnia may misuse medicati ons or alcohol to help with
nighttime sleep, anxiolytics to combat tension or anxiety, and caffeine or other stimulants
to combat excessive fatigue. In addition to worsening the insomnia, this type of substance | dsm5.pdf |
a1cbd36079b5-1 | to combat excessive fatigue. In addition to worsening the insomnia, this type of substance
use may in some cases progress to a substance use disorder.
Relationship to Internat ional Classification of
Sleep Disorders
There are several distinct inso mnia phenotypes relating to the perceived source of the in-
somnia that are recognized by the International Classifica tion of Sleep Disorders, 2nd Edition
(ICSD-2). These include psychophysiological insomnia, idiopathic insomnia, sleep-state mispercep-
tion, and inadequate sleep hygiene. Despite their clinical appeal and heuristic value, there is
limited evidence to support these distinct phenotypes.
Hypersomnolence Disorder
Diagnostic Criteria 307.44 (F51.11)
A. Self-reported excessive sleepiness (hypersomnolence) despite a main sleep period
lasting at least 7 hours, with at least one of the following symptoms:
1. Recurrent periods of sleep or lapses into sleep within the same day.
2. A prolonged main sleep episode of more than 9 hours per day that is nonrestorative
(i.e., unrefreshing).
3. Difficulty being fully awake after abrupt awakening.
B. The hypersomnolence occurs at least three times per week, for at least 3 months.
C. The hypersomnolence is accompanied by si gnificant distress or impairment in cogni-
tive, social, occupational, or other important areas of functioning.
D. The hypersomnolence is not better explai ned by and does not occur exclusively during
the course of another sleep disorder (e.g., narcolepsy, breathing-related sleep disor-
der, circadian rhythm sleep-wake disorder, or a parasomnia).
E. The hypersomnolence is not attributable to the physiological effects of a substance | dsm5.pdf |
a1cbd36079b5-2 | E. The hypersomnolence is not attributable to the physiological effects of a substance
(e.g., a drug of abuse, a medication). | dsm5.pdf |
87cb8d4c2f9f-0 | Hypersomnolence Disorder 369
F. Coexisting mental and medical disorders do not adequately explain the predominant
complaint of hypersomnolence.
Specify if:
With mental disorder , including substance use disorders
With medical condition
With another sleep disorder
Coding note: The code 307.44 (F51.11) applies to all three specifiers. Code also the
relevant associated mental disorder, medi cal condition, or other sleep disorder im-
mediately after the code for hypersomnolence disorder in order to indicate the associ-
ation.
Specify if:
Acute: Duration of less than 1 month.
Subacute: Duration of 1–3 months.
Persistent: Duration of more than 3 months.
Specify current severity:
Specify severity based on degree of difficulty maintaining daytime alertness as manifested
by the occurrence of multiple attacks of irresistible sleepiness within any given day occur-
ring, for example, while sedentary, driving, visiting with friends, or working.
Mild: Difficulty maintaining daytime alertness 1–2 days/week.
Moderate: Difficulty maintaining daytime alertness 3–4 days/week.
Severe: Difficulty maintaining daytime alertness 5–7 days/week.
Diagnostic Features
Hypersomnolence is a broad diagnostic term and incl udes symptoms of excessive quantity
of sleep (e.g., extended nocturnal sleep or involuntary daytime sleep), deteriorated quality
of wakefulness (i.e., sleep propensity duri ng wakefulness as shown by difficulty awaken-
ing or inability to remain awake when required ), and sleep inertia (i.e., a period of im-
paired performance and reduced vigilance following awakening from the regular sleep
episode or from a nap) (Criterion A). Indivi duals with this disorder fall asleep quickly and | dsm5.pdf |
87cb8d4c2f9f-1 | have a good sleep efficiency (>90%). They may have difficulty waking up in the morning,
sometimes appearing confused, co mbative, or ataxic. This pr olonged impairment of alert-
ness at the sleep-wake transition is often referred to as sleep inertia (i.e., sleep drunkenness).
It can also occur upon awaken ing from a daytime nap. During that period, the individual
appears awake, but there is a decline in moto r dexterity, behavior may be very inappro-
priate, and memory deficits, di sorientation in time and spac e, and feelings of grogginess
may occur. This period may last some minutes to hours.
The persistent need for sleep can lead to auto matic behavior (usually of a very routine,
low-complexity type) that the individual carrie s out with little or no subsequent recall. For
example, individuals may find themselves having driven several miles from where they
thought they were, unaware of the “automatic” driving they did in the preceding minutes.
For some individuals with hypersomnolence disorder, the major sleep episode (for most
individuals, nocturnal sleep) has a duration of 9 hours or more. However, the sleep is often
nonrestorative and is followed by difficulty awakening in the morning. For other individ-
uals with hypersomnolence disorder, the majo r sleep episode is of normal nocturnal sleep
duration (6–9 hours). In these cases, the excessive sleepiness is characterized by several un-
intentional daytime naps. These daytime naps tend to be relatively long (often lasting 1 hour
or more), are experienced as no nrestorative (i.e., unrefreshing), and do not lead to improved
alertness. Individuals with hypersomnolence have daytime naps near ly everyday regard- | dsm5.pdf |
87cb8d4c2f9f-2 | alertness. Individuals with hypersomnolence have daytime naps near ly everyday regard-
less of the nocturnal sleep duration. Subjective sleep quality may or may not be reported as
good. Individuals typically feel sleepiness developing over a period of time, rather than | dsm5.pdf |
0387e27b524d-0 | 370 Sleep-Wake Disorders
experiencing a sudden sleep “attack.” Unintent ional sleep episodes typically occur in low-
stimulation and low-activity situations (e.g ., while attending lectures, reading, watching
television, or driving long dist ances), but in more severe cases they can manifest in high-
attention situations such as at work, in meetings, or at social gatherings.
Associated Features Supporting Diagnosis
Nonrestorative sleep, automatic behavior, di fficulties awakening in the morning, and
sleep inertia, although common in hypersomnolence disorder, may also be seen in a variety
of conditions, including narcolepsy. Appr oximately 80% of indi viduals with hyper-
somnolence report that their sleep is nonres torative, and as many have difficulties awak-
ening in the morning. Sleep inertia, thou gh less common (i.e., observed in 36%–50% of
individuals with hypersomnolence disorder), is highly specific to hypersomnolence. Short
naps (i.e., duration of less than 30 minutes) are often unrefreshing. Individuals with hy-
persomnolence often appear sleepy and may even fall asleep in the clinician’s waiting
area.
A subset of individuals with hypersomnolenc e disorder have a family history of hy-
persomnolence and also have symptoms of autonomic nervous system dysfunction, in-
cluding recurrent vascular-type headaches, reactivity of the peripheral vascular system
(Raynaud’s phenomenon), and fainting.
Prevalence
Approximately 5%–10% of individuals who cons ult in sleep disorders clinics with com-
plaints of daytime sleepiness are diagnosed as having hypersomnolence disorder. It is es- | dsm5.pdf |
0387e27b524d-1 | timated that about 1% of the European and U.S. general population has episodes of sleep
inertia. Hypersomnolence occurs with relati vely equal frequency in males and females.
Development and Course
Hypersomnolence disorder has a persistent course, with a prog ressive evolution in the se-
verity of symptoms. In most extreme cases, sl eep episodes can last up to 20 hours. How-
ever, the average nighttime sleep duration is around 9½ hours. While many individuals
with hypersomnolence are able to reduce their sleep time during working days, weekend
and holiday sleep is greatly increased (by up to 3 hours). Awakenings are very difficult
and accompanied by sleep inertia episodes in nearly 40% of cases. Hypersomnolence fully
manifests in most cases in late adolescence or early adulthood, with a mean age at onset of
17–24 years. Individuals with hypersomnolence disorder are diagnosed, on average, 10–15
years after the appearance of the firs t symptoms. Pediatric cases are rare.
Hypersomnolence has a progressive onset, wi th symptoms beginning between ages 15
and 25 years, with a gradual progression over weeks to months. For most individuals, the
course is then persistent and stable, unless tr eatment is initiated. The development of other
sleep disorders (e.g., breathing-related sleep disorder) may worsen the degree of sleepi-
ness. Although hyperactivity may be one of th e presenting signs of daytime sleepiness in
children, voluntary napping increases with ag e. This normal phenomenon is distinct from
hypersomnolence.
Risk and Prognostic Factors
Environmental. Hypersomnolence can be increased te mporarily by psychological stress | dsm5.pdf |
0387e27b524d-2 | Environmental. Hypersomnolence can be increased te mporarily by psychological stress
and alcohol use, but they have not been documented as environmental precipitating
factors. Viral infections have been report ed to have preceded or accompanied hyper-
somnolence in about 10% of cases. Viral infections, such as HIV pneumonia, infectious
mononucleosis, and Guillain-Barré syndrome, can also evolve into hypersomnolence within | dsm5.pdf |
c3cd75b89055-0 | Hypersomnolence Disorder 371
months after the infection. Hypersomnolenc e can also appear within 6–18 months follow-
ing a head trauma.
Genetic and physiological. Hypersomnolence may be fami lial, with an autosomal-
dominant mode of inheritance.
Diagnostic Markers
Nocturnal polysomnography demonstrates a no rmal to prolonged sleep duration, short
sleep latency, and normal to increased slee p continuity. The distribution of rapid eye
movement (REM) sleep is also normal. Sleep e fficiency is mostly greater than 90%. Some
individuals with hypersomnolence disorder have increased amounts of slow-wave sleep.
The multiple sleep latency te st documents sleep tendency, typically indicated by mean
sleep latency values of less than 8 minutes. In hypersomnolence disorder, the mean sleep
latency is typically less than 10 minutes and fr equently 8 minutes or less. Sleep-onset REM
periods (SOREMPs; i.e., the occurrence of REM sleep within 20 minutes of sleep onset)
may be present but occur less than two time s in four to five nap opportunities.
Functional Consequences of Hypersomnolence Disorder
The low level of alertness that occurs while an individual fights the need for sleep can lead
to reduced efficiency, diminished concentration, and poor memory during daytime activ-
ities. Hypersomnolence can lead to significan t distress and dysfunction in work and social
relationships. Prolonged nocturnal sleep and difficulty awakening can result in difficulty
in meeting morning obligations, such as arrivi ng at work on time. Unintentional daytime
sleep episodes can be embarrassing and even dangerous, if, for instance, the individual is
driving or operating machinery when the episode occurs.
Differential Diagnosis | dsm5.pdf |
c3cd75b89055-1 | driving or operating machinery when the episode occurs.
Differential Diagnosis
Normative variation in sleep. “Normal” sleep duration varies considerably in the general
population. “Long sleepers” (i.e., individuals who require a greater than average amount
of sleep) do not have excessive sleepiness, sleep inertia, or automatic behavior when they
obtain their required amount of nocturnal sleep . Sleep is reported to be refreshing. If social
or occupational demands lead to shorter nocturnal sleep, daytime symptoms may appear.
In hypersomnolence disorder, by contrast, symp toms of excessive sleepiness occur regard-
less of nocturnal sleep duration. An inad equate amount of no cturnal sleep, or behaviorally
induced insufficient sleep syndrome, can produce symptoms of daytime sleepiness very similar
to those of hypersomnolence. An average slee p duration of fewer than 7 hours per night
strongly suggests inadequate nocturnal sleep , and an average of more than 9–10 hours of
sleep per 24-hour period suggests hypersomnole nce. Individuals with inadequate noctur-
nal sleep typically “catch up” with longer sleep durations on days when they are free from
social or occupational demands or on vaca tions. Unlike hypersom nolence, insufficient
nocturnal sleep is unlikely to persist unabat ed for decades. A diagnosis of hypersomno-
lence disorder should not be made if there is a question regarding the adequacy of noctur-
nal sleep duration. A diagnostic and therapeutic trial of sleep extension for 10–14 days can
often clarify the diagnosis.
Poor sleep quality and fatigue. Hypersomnolence disorder should be distinguished
from excessive sleepiness related to insufficient sleep quantity or quality and fatigue (i.e.,
tiredness not necessarily relieved by increase d sleep and unrelated to sleep quantity or | dsm5.pdf |
c3cd75b89055-2 | tiredness not necessarily relieved by increase d sleep and unrelated to sleep quantity or
quality). Excessive sleepiness and fatigue ar e difficult to differentiate and may overlap
considerably.
Breathing-related sleep disorders. Individuals with hypersomnolence and breathing-
related sleep disorders may have similar patterns of excessive sleepiness. Breathing- | dsm5.pdf |
075fe4ce9934-0 | 372 Sleep-Wake Disorders
related sleep disorders are suggested by a hist ory of loud snoring, pauses in breathing
during sleep, brain injury, or cardiovascular disease and by the presence of obesity, oro-
pharyngeal anatomical abnormalities, hyperten sion, or heart failure on physical examina-
tion. Polysomnographic studies can confirm the presence of apneic events in breathing-
related sleep disorder (and their ab sence in hypersomnolence disorder).
Circadian rhythm sleep-wake disorders. Circadian rhythm sleep-wake disorders are
often characterized by daytime sleepiness. A history of an abnormal sleep-wake schedule
(with shifted or irregular hours) is present in individuals with a circadian rhythm sleep-
wake disorder.
Parasomnias. Parasomnias rarely produce the prol onged, undisturbed nocturnal sleep
or daytime sleepiness characterist ic of hypersomnolence disorder.
Other mental disorders. Hypersomnolence disorder must be distinguished from mental
disorders that include hypersomnolence as an essential or associated fe ature. In particular,
complaints of daytime sleepiness may occur in a major depressive episode, with atypical fea-
tures, and in the depressed phase of bipolar di sorder. Assessment for ot her mental disorders is
essential before a diagnosis of hypersomnolence disorder is co nsidered. A diagnosis of hyper-
somnolence disorder can be made in the presence of another current or past mental disorder.
Comorbidity
Hypersomnolence can be associated with depressive disorders, bipolar disorders (during a
depressive episode), and major depressive disorder, with seas onal pattern. Many individu-
als with hypersomnolence disorder have symptoms of depression that may meet criteria for | dsm5.pdf |
075fe4ce9934-1 | als with hypersomnolence disorder have symptoms of depression that may meet criteria for
a depressive disorder. This presentation may be related to the psycho social consequences of
persistent increased sleep need. Individuals with hypersomnolence disorder are also at
risk for substance-related disord ers, particularly related to self-medication with stimulants.
This general lack of specificity may contribu te to very heterogeneous profiles among indi-
viduals whose symptoms meet the same diagnostic criteria for hypersomnolence disorder.
Neurodegenerative conditions, such as Alzhei mer’s disease, Parkinson’s disease, and mul-
tiple system atrophy, may also be associated with hypersomnolence.
Relationship to Internat ional Classification of
Sleep Disorders
The International Classification of Sleep Disorders, 2nd Edition (ICSD-2), differentiates nine
subtypes of “hypersomnias of central origin ,” including recurrent hypersomnia (Kleine-
Levin syndrome).
Narcolepsy
Diagnostic Criteria
A. Recurrent periods of an irrepressible need to sleep, lapsing into sleep, or napping oc-
curring within the same day. These must have been occurring at least three times per
week over the past 3 months.
B. The presence of at least one of the following:
1. Episodes of cataplexy, defined as either (a) or (b), occurring at least a few times
per month:
a. In individuals with long-standing disease, brief (seconds to minutes) episodes
of sudden bilateral loss of muscle tone with maintained consciousness that are
precipitated by laughter or joking. | dsm5.pdf |
f34fa341c338-0 | Narcolepsy 373
b. In children or in individuals within 6 months of onset, spontaneous grimaces or
jaw-opening episodes with tongue thrusting or a global hypotonia, without any
obvious emotional triggers.
2. Hypocretin deficiency, as measured usi ng cerebrospinal fluid (CSF) hypocretin-1
immunoreactivity values (less than or equal to one-third of values obtained in
healthy subjects tested using the same assay, or less than or equal to 110 pg/mL).
Low CSF levels of hypocretin-1 must not be observed in the context of acute brain
injury, inflammation, or infection.
3. Nocturnal sleep polysomnography showing rapid eye movement (REM) sleep la-
tency less than or equal to 15 minutes, or a multiple sleep latency test showing a
mean sleep latency less than or equal to 8 minutes and two or more sleep-onset
REM periods.
Specify whether:
347.00 (G47.419) Na rcolepsy without cataplexy but with hypocretin deficiency: Cri-
terion B requirements of low CSF hypocretin-1 levels and positive polysomnography/
multiple sleep latency test are met, but no cataplexy is present (Criterion B1 not met).
347.01 (G47.411) Narcolepsy with cataplexy but without hypocretin deficiency:
In this rare subtype (less than 5% of narcolepsy cases), Criterion B requirements of
cataplexy and positive polysomnography/multiple sleep latency test are met, but CSF
hypocretin-1 levels are normal (Criterion B2 not met).
347.00 (G47.419) Autosomal dominant cereb ellar ataxia, deafness, and narco- | dsm5.pdf |
f34fa341c338-1 | lepsy: This subtype is caused by exon 21 DNA (cytosine-5)-methyltransferase-1 mu-
tations and is characterized by late-onset (age 30–40 years) narcolepsy (with low or
intermediate CSF hypocretin-1 levels), deafness, cerebellar ataxia, and eventually de-
mentia.
347.00 (G47.419) Autosomal dominant narcolepsy, obesity, and type 2 diabetes:
Narcolepsy, obesity, and type 2 diabetes and low CSF hypocretin-1 levels have been
described in rare cases and are associated with a mutation in the myelin oligodendro-
cyte glycoprotein gene.
347.10 (G47.429) Narcolepsy secondary to a nother medical condition: This sub-
type is for narcolepsy that develops secondary to medical conditions that cause infec-
tious (e.g., Whipple’s disease, sarcoidosis), traumatic, or tumoral destruction of
hypocretin neurons.
Coding note (for ICD-9-CM code 347.10 only): Code first the underlying medical con-
dition (e.g., 040.2 Whipple’s disease; 347.10 narcolepsy secondary to Whipple’s dis-
ease).
Specify current severity:
Mild: Infrequent cataplexy (less than once per week), need for naps only once or twice
per day, and less disturbed nocturnal sleep.
Moderate: Cataplexy once daily or every few days, disturbed nocturnal sleep, and
need for multiple naps daily.
Severe: Drug-resistant cataplexy with multiple attacks daily, nearly constant sleepi- | dsm5.pdf |
f34fa341c338-2 | ness, and disturbed nocturnal sleep (i.e., movements, insomnia, and vivid dreaming).
Subtypes
In narcolepsy without cataplexy but with hypocretin deficiency, unclear “cataplexy-like”
symptoms may be reported (e.g., the symptoms are not triggered by emotions and are un-
usually long lasting). In extremely rare cases, cerebrospinal fluid (CSF) levels of hypocre-
tin-1 are low, and polysomnographic/multiple sleep latency test (MSLT) results are
negative: repeating the test is advised before establishing the subtype diagnosis. In narco- | dsm5.pdf |
b67b78ce3afe-0 | 374 Sleep-Wake Disorders
lepsy with cataplexy but withou t hypocretin deficiency, test results for human leukocyte
antigen (HLA) DQB1*06:02 may be negative. Seiz ures, falls of other origin, and conversion
disorder (functional neurological symptom disorder) should be excluded. In narcolepsy
secondary to infectious (e.g., Whipple’s dise ase, sarcoidosis), traumatic, or tumoral de-
struction of hypocretin neuron s, test results for HLA DQB1* 06:02 may be positive and may
result from the insult triggeri ng the autoimmune process. In other cases, the destruction of
hypocretin neurons may be secondary to trau ma or hypothalamic surgery. Head trauma
or infections of the central nervous system can, however, produce tran sitory decreases in
CSF hypocretin-1 levels without hypocret in cell loss, complicating the diagnosis.
Diagnostic Features
The essential features of sleepiness in narcolep sy are recurrent daytime naps or lapses into
sleep. Sleepiness typica lly occurs daily but must occur at a minimum three times a week
for at least 3 months (Criterion A). Narcolep sy generally produces cataplexy, which most
commonly presents as brief episodes (seconds to minutes) of sudden, bilateral loss of mus-
cle tone precipitated by emotions, typically laughing and joking. Muscles affected may
include those of the neck, jaw, arms, legs, or whole body, resulting in head bobbing, jaw
dropping, or complete falls. Individuals are awake and aware during cataplexy. To meet
Criterion B1(a), cataplexy must be triggered by laughter or joking and must occur at least
a few times per month when the condition is untreated or in the past. | dsm5.pdf |
b67b78ce3afe-1 | a few times per month when the condition is untreated or in the past.
Cataplexy should not be confused with “wea kness” occurring in the context of athletic
activities (physiological) or ex clusively after unusual emotiona l triggers such as stress or
anxiety (suggesting possible psychopathology). Episodes lasting hours or days, or those not
triggered by emotions, are unlikely to be cata plexy, nor is rolling on the floor while laugh-
ing hysterically.
In children close to onset, genuine cataplexy can be atypical, affecting primarily the
face, causing grimaces or jaw opening with tongue thrusting (“cataplectic faces”). Alter-
natively, cataplexy may present as low-grad e continuous hypotonia, yielding a wobbling
walk. In these cases, Criterion B1(b) can be met in children or in individuals within 6 months
of a rapid onset.
Narcolepsy-cataplexy nearly always results from the loss of hypothalamic hypocretin
(orexin)–producing cells, causin g hypocretin deficiency (less than or equal to one-third of
control values, or 110 pg/mL in most laboratori es). Cell loss is likely autoimmune, and ap-
proximately 99% of affected individuals carry HLA-DQB1*06:02 (vs. 12%–38% of control
subjects). Thus, checking for the presence of DQB1*06:02 pr ior to a lumbar puncture for eval-
uation of CSF hypocretin-1 immu noreactivity may be useful. Ra rely, low CSF levels of hypo-
cretin-1 occur without cataplexy, notably in youths who may develop cataplexy later. CSF | dsm5.pdf |
b67b78ce3afe-2 | hypocretin-1 measurement represents the gold standard, excepting associated severe con-
ditions (neurological, inflammatory, infectious , trauma) that can inte rfere with the assay.
A nocturnal polysomnographic sleep study followed by an MSLT can also be used to
confirm the diagnosis (Criterion B3). These tests must be performed after the individual
has stopped all psychotropic medications, fo llowing 2 weeks of adequate sleep time (as
documented with sleep diaries, actigraphy). Short rapid eye movement (REM) latency
(sleep-onset REM period, REM latency less than or equal to 15 minutes) during polysom-
nography is sufficient to confirm the diagnosi s and meets Criterion B3. Alternatively, the
MSLT result must be positive, showing a mean sleep latency of less than or equal to 8 min-
utes and two or more sleep-onset REM periods in four to five naps.
Associated Features Supporting Diagnosis | dsm5.pdf |
0ec681541d2a-0 | MSLT result must be positive, showing a mean sleep latency of less than or equal to 8 min-
utes and two or more sleep-onset REM periods in four to five naps.
Associated Features Supporting Diagnosis
When sleepiness is severe, automatic behavior s may occur, with the individual continuing
his or her activities in a semi-automatic, ha zelike fashion without memory or conscious-
ness. Approximately 20%–60% of individuals experience vivid hypnagogic hallucinations | dsm5.pdf |
a9aa2189803d-0 | Narcolepsy 375
before or upon falling asleep or hypnopompic hallucinations just after awakening. These
hallucinations are distinct from the less vivid, nonhallucinatory dreamlike mentation at
sleep onset that occurs in normal sleepers. Nightmares and vivid dreaming are also fre-
quent in narcolepsy, as is REM sleep behavior disorder. Approximately 20%–60% of indi-
viduals experience sleep paralysis upon falling asleep or awakening, leaving them awake
but unable to move or speak. However, many normal sleepers also report sleep paralysis,
especially with stress or slee p deprivation. Nocturnal eating may occur. Obesity is com-
mon. Nocturnal sleep disruption with freque nt long or short awakenings is common and
can be disabling.
Individuals may appear sleepy or fall asleep in the waiting area or during clinical ex-
amination. During cataplexy, individuals may slump in a chair and have slurred speech or
drooping eyelids. If the clinician has time to check reflexes during cataplexy (most attacks
are less than 10 seconds), reflexes are abo lished—an important finding distinguishing gen-
uine cataplexy from conversion disorder.
Prevalence
Narcolepsy-cataplexy affects 0.02%–0.04% of the general population in most countries.
Narcolepsy affects both genders, with possibly a slight male preponderance.
Development and Course
Onset is typically in children and adolescents/young adults but rarely in older adults.
Two peaks of onset are suggested, at ages 15–25 years and ages 30–35 years. Onset can be
abrupt or progressive (over years). Severity is highest when onset is abrupt in children, | dsm5.pdf |
a9aa2189803d-1 | abrupt or progressive (over years). Severity is highest when onset is abrupt in children,
and then decreases with age or with treatment, so that symptoms such as cataplexy can oc-
casionally disappear. Abrupt onset in young, prepubescent children can be associated
with obesity and premature puberty, a phenotype more frequently observed since 2009. In
adolescents, onset is more difficu lt to pinpoint. Onset in adults is often unclear, with some
individuals reporting having ha d excessive sleepiness since bi rth. Once the disorder has
manifested, the course is persistent and lifelong.
In 90% of cases, the first symptom to manife st is sleepiness or in creased sleep, followed
by cataplexy (within 1 year in 50% of cases, within 3 years in 85%). Sleepiness, hypnagogic
hallucinations, vivid dreaming , and REM sleep behavior disorder (excessive movements
during REM sleep) are early symptoms. Excessiv e sleep rapidly progresses to an inability
to stay awake during the day, and to maintain good sleep at night, without a clear increase
in total 24-hour sleep needs. In the first months, cataplexy may be atypical, especially in
children. Sleep paralysis usually develops ar ound puberty in child ren with prepubertal
onset. Exacerbations of symptoms suggest la ck of compliance with medications or devel-
opment of a concurrent sleep disorder, notably sleep apnea.
Young children and adolescents with narcolepsy often develop a ggression or behav-
ioral problems secondary to sleepiness and/ or nighttime sleep disruption. Workload and
social pressure increase thro ugh high school and college, reducing available sleep time at
night. Pregnancy does not seem to modify symptoms consisten tly. After retirement, indi- | dsm5.pdf |
a9aa2189803d-2 | viduals typically have more opportunity for napping, reducing the need for stimulants.
Maintaining a regular schedule benefits individuals at all ages.
Risk and Prognostic Factors
Temperamental. Parasomnias, such as sleepwalking, bruxism, REM sleep behavior dis-
order, and enuresis, may be more common in individuals who deve lop narcolepsy. Indi-
viduals commonly report that they need more sleep than other family members.
Environmental. Group A streptococcal throat infect ion, influenza (notably pandemic
H1N1 2009), or other winter infections are lik ely triggers of the autoimmune process, pro- | dsm5.pdf |
af6167433076-0 | 376 Sleep-Wake Disorders
ducing narcolepsy a few months later. Head trauma and abrupt changes in sleep-wake
patterns (e.g., job changes, stress) may be additional triggers.
Genetic and physiological. Monozygotic twins are 25%–32% concordant for narcolepsy.
The prevalence of narcolepsy is 1%–2% in firs t-degree relatives (a 10- to 40-fold increase
overall). Narcolepsy is strongly associated with DQB1*06:02 (99% vs. 12%–38% in control
subjects of various ethnic gr oups; 25% in the general U.S. population). DQB1*03:01 in-
creases, while DQB1*05:01, DQB1*06:01, and DQB1*06:03 reduce risk in the presence of
DQB1*06:02, but the effect is small. Polymorphisms within the T-cell receptor alpha gene
and other immune modulating gene s also modulate risk slightly.
Culture-Related Diagnostic Issues
Narcolepsy has been described in all ethnic groups and in many cultures. Among African
Americans, more cases present without cataplexy or with atypical cataplexy, complicating
diagnosis, especially in the presence of obesity and obstructive sleep apnea.
Diagnostic Markers
Functional imaging suggests impaired hypo thalamic responses to humorous stimuli.
Nocturnal polysomnography followed by an MS LT is used to confirm the diagnosis of
narcolepsy, especially when the disorder is first being diagnosed and before treatment has
begun, and if hypocretin deficiency has not been documented biochemically. The poly-
somnography/MSLT should be performed after the individual is no longer taking any | dsm5.pdf |
af6167433076-1 | somnography/MSLT should be performed after the individual is no longer taking any
psychotropic drugs and after re gular sleep-wake patterns, with out shift work or sleep de-
privation, have been documented.
A sleep-onset REM period during the poly somnography (REM sleep latency less than
or equal to 15 minutes) is highly specific (a pproximately 1% positive in control subjects)
but moderately sensitive (approximately 50%). A positive MSLT result displays an aver-
age sleep latency of less than or equal to 8 minutes, and sleep-onset REM periods in two or
more naps on a four- or five-nap test. The MS LT result is positive in 90%–95% of individ-
uals with narcolepsy versus 2%–4% of control subjects or individuals with other sleep dis-
orders. Additional polysomnographic findings often include frequent arousals, decreased
sleep efficiency, and increased stage 1 sleep. Periodic limb moveme nts (found in about
40% of individuals with narcolepsy) and sleep apnea are often noted.
Hypocretin deficiency is demonstrated by measuring CSF hypocretin-1 immunoreac-
tivity. The test is particular ly useful in individuals with suspected conversion disorder
and those without typical cataplexy, or in treatment-refractory cases. The diagnostic value
of the test is not affected by medications, sleep deprivation, or circadian time, but the find-
ings are uninterpretable when the individual is severely ill with a concurrent infection or
head trauma or is comatose. CSF cytology, protein, and glucose are within normal range
even when sampled within weeks of rapid onse t. CSF hypocretin-1 in these incipient cases | dsm5.pdf |
af6167433076-2 | is typically already very diminished or undetectable.
Functional Consequenc es of Narcolepsy
Driving and working are impaired, and indivi duals with narcolepsy should avoid jobs
that place themselves (e.g., working with mach inery) or others (e.g., bus driver, pilot) in
danger. Once the narcolepsy is controlled wi th therapy, patients can usually drive, al-
though rarely long distances alone. Untreated individuals are also at risk for social isola-
tion and accidental injury to themselves or others. Social relations may suffer as these
individuals strive to avert cataplexy by exerting control over emotions.
Differential Diagnosis
Other hypersomnias. Hypersomnolence and narcolepsy are similar with respect to the
degree of daytime sleepiness, age at onset, an d stable course over time but can be distin- | dsm5.pdf |
2e4888d17e38-0 | Narcolepsy 377
guished based on distinctive clinical and labo ratory features. Individuals with hypersom-
nolence typically have longer and less disrupted nocturnal sleep, greater difficulty
awakening, more persistent daytime sleepine ss (as opposed to more discrete “sleep at-
tacks” in narcolepsy), longer and less refreshing daytime sleep episodes, and little or no
dreaming during daytime naps. By contrast, individuals with narcolepsy have cataplexy
and recurrent intrusions of elements of REM sleep into the transition between sleep and
wakefulness (e.g., sleep-related hallucination s and sleep paralysis). The MSLT typically
demonstrates shorter sleep latenc ies (i.e., greater physiological sleepiness) as well as the
presence of multiple sleep-onset REM periods in individuals with narcolepsy.
Sleep deprivation and insufficient nocturnal sleep. Sleep deprivation and insufficient
nocturnal sleep are common in adolescents and shift workers. In adolescents, difficulties
falling asleep at night are common, causing sleep deprivation. The MSLT result may be
positive if conducted while the individual is sleep deprived or while his or her sleep is
phase delayed.
Sleep apnea syndromes. Sleep apneas are especially likely in the presence of obesity.
Because obstructive sleep apnea is more freque nt than narcolepsy, ca taplexy may be over-
looked (or absent), and the individual is as sumed to have obstructive sleep apnea unre-
sponsive to usual therapies.
Major depressive disorder. Narcolepsy or hypersomnia may be associated or confused
with depression. Cataplexy is not present in depression. The MSLT re sults are most often
normal, and there is dissociation between subj ective and objective sleepiness, as measured | dsm5.pdf |
2e4888d17e38-1 | normal, and there is dissociation between subj ective and objective sleepiness, as measured
by the mean sleep latency during the MSLT.
Conversion disorder (functional neurological symptom disorder). Atypical features,
such as long-lasting cataplexy or unusual tr iggers, may be present in conversion disorder
(functional neurological symptom disorder). Individuals may report sleeping and dream-
ing, yet the MSLT does not show the characteristic sleep-onset REM period. Full-blown,
long-lasting pseudocataplexy may occur during consultation, allowing the examining
physician enough time to verify reflexes, which remain intact.
Attention-deficit/hyperactivity disord er or other behavioral problems. In children and
adolescents, sleepiness can ca use behavioral problems, including aggressiveness and in-
attention, leading to a misdiagnosis of attention-deficit/hype ractivity disorder.
Seizures. In young children, cataplexy can be misd iagnosed as seizures. Seizures are not
commonly triggered by emotions, and when they are, the trigger is not usually laughing or
joking. During a seizure, individuals are more likely to hurt themselves when falling. Sei-
zures characterized by isolated atonia are rare ly seen in isolation of other seizures, and
they also have signatures on the electroencephalogram.
Chorea and movement disorders. In young children, cataplexy can be misdiagnosed as
chorea or pediatric autoimmune neuropsychiatric disorders associated with streptococcal
infections, especially in the co ntext of a strep throat infectio n and high antistreptolysin O
antibody levels. Some children may have an overlapping movement d isorder close to on-
set of the cataplexy. | dsm5.pdf |
2e4888d17e38-2 | set of the cataplexy.
Schizophrenia. In the presence of florid and vivid hypnagogic hallucinations, individuals
may think these experiences are real—a feature that suggests schizophrenia. Similarly,
with stimulant treatment, pers ecutory delusions may develop. If cataplexy is present, the
clinician should first assume that these sympto ms are secondary to narcolepsy before con-
sidering a co-occurring diagnosis of schizophrenia.
Comorbidity
Narcolepsy can co-occur with bipolar, depressi ve, and anxiety disorders, and in rare cases
with schizophrenia. Narcolepsy is also associ ated with increased body mass index or obe- | dsm5.pdf |
659a7952d99a-0 | 378 Sleep-Wake Disorders
sity, especially when the narcolepsy is untreated. Rapid weight gain is common in young
children with a sudden disease onset. Comorbid sleep apnea sh ould be considered if there
is a sudden aggravation of preexisting narcolepsy.
Relationship to Internat ional Classification of
Sleep Disorders
The International Classificat ion of Sleep Disorders, 2nd Edition (ICSD-2), differentiates five
subtypes of narcolepsy.
Breathing-Related Sleep Disorders
The breathing-related sleep disorders category encompasses three relatively distinct dis-
orders: obstructive sleep apnea hypopnea, ce ntral sleep apnea, an d sleep-related hypo-
ventilation.
Obstructive Sleep Apnea Hypopnea
Diagnostic Criteria 327.23 (G47.33)
A. Either (1) or (2):
1. Evidence by polysomnography of at least five obstructive apneas or hypopneas per
hour of sleep and either of the following sleep symptoms:
a. Nocturnal breathing disturbances: snor ing, snorting/gasping, or breathing
pauses during sleep.
b. Daytime sleepiness, fatigue, or unrefreshing sleep despite sufficient opportuni-
ties to sleep that is not better explained by another mental disorder (including a
sleep disorder) and is not attribut able to another medical condition.
2. Evidence by polysomnography of 15 or more obstructive apneas and/or hypopneas
per hour of sleep regardless of accompanying symptoms.
Specify current severity:
Mild: Apnea hypopnea index is less than 15.
Moderate: Apnea hypopnea index is 15–30.
Severe: Apnea hypopnea index is greater than 30.
Specifiers | dsm5.pdf |
659a7952d99a-1 | Severe: Apnea hypopnea index is greater than 30.
Specifiers
Disease severity is measured by a count of the number of apneas plus hypopneas per hour
of sleep (apnea hypopnea index) using polysomnography or other ov ernight monitoring.
Overall severity is also informed by levels of nocturnal desaturation and sleep fragmen-
tation (measured by brain cortical arousal frequency and sleep stages) and degree of as-
sociated symptoms and daytime impairment. However, the exact number and thresholds
may vary according to the specific measureme nt techniques used, and these numbers may
change over time. Regardless of the apnea hy popnea index (count) pe r se, the disorder is
considered to be more severe when apneas and hypopneas are accompanied by significant
oxygen hemoglobin desaturation (e.g., when more than 10% of the sleep time is spent at
desaturation levels of less than 90%) or wh en sleep is severely fragmented as shown by an | dsm5.pdf |
4500b2f508d3-0 | Obstructive Sleep Apnea Hypopnea 379
elevated arousal index (arousal index greater th an 30) or reduced stages in deep sleep (e.g.,
percentage stage N3 [slow-wave sleep] less than 5%).
Diagnostic Features
Obstructive sleep apnea hypopnea is the most common breathing-related sleep disorder.
It is characterized by repeated episodes of upper (pharyngeal) airw ay obstruction (apneas
and hypopneas) during sleep. Apnea refers to the total absence of airflow, and hypopnea re-
fers to a reduction in airflow. Each apnea or hypopnea represents a reduction in breathing
of at least 10 seconds in duration in adults or two missed breaths in children and is typi-
cally associated with drops in oxygen saturation of 3% or greater and/or an electroenceph-
alographic arousal. Both sleep-related (nocturnal) and wake-time symptoms are common.
The cardinal symptoms of obstructive sleep apnea hypopnea are snoring and daytime
sleepiness.
Obstructive sleep apnea hypopnea in adults is diagnosed on the basis of polysom-
nographic findings and symptoms. The diagnosis is based on symptoms of 1) nocturnal
breathing disturbances (i.e., snoring, snorti ng/gasping, breathing pauses during sleep), or
2) daytime sleepiness, fatigue, or unrefreshi ng sleep despite suffic ient opportunities to
sleep that are not better explained by another mental disorder and not attributable to an-
other medical condition, along with 3) eviden ce by polysomnography of five or more ob-
structive apneas or hypopneas per hour of sleep (Criterion A1). Diagnosis can be made in | dsm5.pdf |
4500b2f508d3-1 | the absence of these symptoms if there is evidence by polysomnography of 15 or more ob-
structive apneas and/or hypopneas pe r hour of sleep (Criterion A2).
Specific attention to disturbe d sleep occurring in association with snoring or breathing
pauses and physical findings that increase ri sk of obstructive sleep apnea hypopnea (e.g.,
central obesity, crowded pharyngeal airway, el evated blood pressure) is needed to reduce
the chance of misdiagnosing this treatable condition.
Associated Features Supporting Diagnosis
Because of the frequency of nocturnal awakenin gs that occur with obstructive sleep apnea
hypopnea, individuals may report symptoms of insomnia. Other common, though non-
specific, symptoms of obstructive sleep apne a hypopnea are heartbur n, nocturia, morning
headaches, dry mouth, erectile dysfunction, and reduced li bido. Rarely, individuals may
complain of difficulty breathing while lying supine or sleeping. Hypertension may occur
in more than 60% of individuals with obstructive sleep apnea hypopnea.
Prevalence
Obstructive sleep apnea hypopnea is a very common disorder, affecting at least 1%–2% of
children, 2%–15% of middle-age adults, and mo re than 20% of older individuals. In the
general community, prevalence rates of undiagnosed obst ructive sleep apnea hypopnea
may be very high in elderly individuals. Sinc e the disorder is strongly associated with obe-
sity, increases in obesity rates are likely to be accompanied by an increased prevalence of
this disorder. Prevalen ce may be particularly high amon g males, older adults, and certain | dsm5.pdf |
4500b2f508d3-2 | racial/ethnic groups. In adults, the male-to-female ratio of obstructive sleep apnea hypop-
nea ranges from 2:1 to 4:1. Ge nder differences decline in olde r age, possibly because of an
increased prevalence in females after menopause. There is no gender difference among
prepubertal children.
Development and Course
The age distribution of obstructive sleep apnea hypopnea likely follows a J-shaped distri-
bution. There is a peak in children ages 3–8 years when the nasopharynx may be compro-
mised by a relatively large mass of tonsillar tissue compared with the size of the upper | dsm5.pdf |
8beb9a95a094-0 | 380 Sleep-Wake Disorders
airway. With growth of the airway and regression of lymphoid tissue during later child-
hood, there is reduction in prevalence. Then, as obesity prevalence increases in midlife and
females enter menopause, obstructive sleep apnea hypopnea again increases. The course
in older age is unclear; the disorder may level off after age 65 years, but in other individ-
uals, prevalence may increase with aging. Beca use there is some age dependency of the oc-
currence of apneas and hypopneas, polysomnog raphic results must be interpreted in light
of other clinical data. In particular, signific ant clinical symptoms of insomnia or hyper-
somnia should be investigated re gardless of the individual’s age.
Obstructive sleep apnea hypopnea usually ha s an insidious onset, gradual progression,
and persistent course. Typically the loud snorin g has been present for many years, often since
childhood, but an increase in its severity may lead the individual to seek evaluation. Weight
gain may precipitate an increase in sympto ms. Although obstructive sleep apnea hypopnea
can occur at any age, it most commonly mani fests among individuals ages 40–60 years. Over
4–5 years, the average apnea hypo pnea index increases in adults and older individuals by ap-
proximately two apneas/hypopneas per hour. Th e apnea hypopnea index is increased and in-
cident obstructive sleep apnea hypopnea is greater among indivi duals who are older, who are
male, or who have a higher baseline body mass index (BMI) or increa se their BMI over time.
Spontaneous resolution of obstructive sleep ap nea hypopnea has been reported with weight | dsm5.pdf |
8beb9a95a094-1 | Spontaneous resolution of obstructive sleep ap nea hypopnea has been reported with weight
loss, particularly after bariatric surgery. In children, seasonal va riation in obstructive sleep ap-
nea hypopnea has been observed, as has improvement with overall growth.
In young children, the signs and symptoms of obstructive sleep apnea hypopnea may be
more subtle than in adults, making diagnosis more difficult to establish. Polysomnography is
useful in confirming diagnosis. Evidence of fragmentation of sleep on the polysomnogram
may not be as apparent as in studies of older individuals, possibly because of the high homeo-
static drive in young individuals. Symptoms su ch as snoring are usually parent-reported and
thus have reduced sensitivity. Agitated arousals and unusual sleep postures, such as sleeping
on the hands and knees, may oc cur. Nocturnal enuresis also may occur and should raise the
suspicion of obstructive sleep apnea hypopnea if it recurs in a child who was previously dry at
night. Children may also manife st excessive daytime sleepiness, although this is not as com-
mon or pronounced as in adults. Daytime mouth breathing, difficulty in swallowing, and poor
speech articulation are also common features in children. Children younger than 5 years more
often present with nighttime symptoms, such as observed apneas or labored breathing, than
with behavioral symptoms (i.e., the nighttime symptoms are more noticeable and more often
bring the child to clinical attention). In childre n older than 5 years, daytime symptoms such as
sleepiness and behavioral problems (e.g., impulsivity and hyperactivity), attention-deficit/
hyperactivity disorder, learning difficulties, and morning head aches are more often the focus
of concern. Children with obstructive sleep apnea hypopnea also may present with failure to | dsm5.pdf |
8beb9a95a094-2 | of concern. Children with obstructive sleep apnea hypopnea also may present with failure to
thrive and developmental delays. In young children, obesity is a less common risk factor,
while delayed growth and “failure to thrive” may be present.
Risk and Prognostic Factors
Genetic and physiological. The major risk factors for ob structive sleep apnea hypopnea
are obesity and male gender. Others include maxillary-mandi bular retrognathia or micro-
gnathia, positive family history of sleep apnea, genetic syndromes that reduce upper
airway patency (e.g., Down’s syndrome, Trea cher Collin’s syndrome), adenotonsillar hy- | dsm5.pdf |
e3cc1721b74f-0 | gnathia, positive family history of sleep apnea, genetic syndromes that reduce upper
airway patency (e.g., Down’s syndrome, Trea cher Collin’s syndrome), adenotonsillar hy-
pertrophy (especially in youn g children), menopause (in fema les), and various endocrine
syndromes (e.g., acromegaly). Compared with premenopausal females, males are at in-
creased risk for obstruct ive sleep apnea hypopnea, possibly reflecting the influences of sex
hormones on ventilatory control and body fat distribution, as well as because of gender
differences in airway structure. Medication s for mental disorders and medical conditions
that tend to induce somnolence may worsen the course of apnea symptoms if these med-
ications are not managed carefully. | dsm5.pdf |
b8127e62f516-0 | Obstructive Sleep Apnea Hypopnea 381
Obstructive sleep apnea hypopnea has a strong genetic basis, as evidenced by the sig-
nificant familial aggregation of the apnea hy popnea index. The prevalence of obstructive
sleep apnea hypopnea is approximately twice as high among the first-degree relatives of
probands with obstructive sleep apnea hypopn ea as compared with members of control
families. One-third of the variance in the apnea hypopnea index is explained by shared fa-
milial factors. Although genetic markers with diagnostic or prognostic value are not yet
available for use, eliciting a family history of obstructive sleep apnea hypopnea should in-
crease the clinical suspicion for the disorder.
Culture-Related Diagnostic Issues
There is a potential for sleepiness and fatigue to be reported differently across cultures. In
some groups, snoring may be considered a si gn of health and thus may not trigger con-
cerns. Individuals of Asian ancestry may be at increased risk for obstructive sleep apnea
hypopnea despite relatively low BMI, possibly reflecting the influence of craniofacial risk
factors that narrow the nasopharynx.
Gender-Related Issues
Females may more commonly report fatigue rather than sleepiness and may underreport
snoring.
Diagnostic Markers
Polysomnography provides quan titative data on frequency of sleep-related respiratory
disturbances and associated changes in oxygen saturation and sleep continuity. Polysom-
nographic findings in children differ from th ose in adults in that children demonstrate
labored breathing, partial obst ructive hypoventilation with cyclical desaturations, hyper-
capnia and paradoxical movements. Apnea hy popnea index levels as low as 2 are used to
define thresholds of abnormality in children. | dsm5.pdf |
b8127e62f516-1 | define thresholds of abnormality in children.
Arterial blood gas measurements while the in dividual is awake are usually normal, but
some individuals can have waking hypoxemia or hypercapnia. This pattern should alert the
clinician to the possibility of coexisting lung disease or hypoventilation. Imaging procedures
may reveal narrowing of the u pper airway. Cardiac testing ma y show evidence of impaired
ventricular function. Individuals with severe no cturnal oxygen desaturation may also have el-
evated hemoglobin or hematocrit values. Vali dated sleep measures (e.g., multiple sleep la-
tency test [MSLT], maintenance of wake fulness test) may identify sleepiness.
Functional Consequences of
Obstructive Sleep Apnea Hypopnea
More than 50% of individuals with moderate to severe obstructive sleep apnea hypopnea
report symptoms of daytime sleepiness. A twof old increased risk of occupational accidents
has been reported in association with sympto ms of snoring and slee piness. Motor vehicle
crashes also have been reported to be as mu ch as sevenfold higher among individuals with
elevated apnea hypopnea index values. Clinicians should be cognizant of state govern-
ment requirements for reporting this disorder , especially in relati onship to commercial
drivers. Reduced scores on measures of health -related quality of life are common in individ-
uals with obstructive sleep apnea hypopnea, wi th the largest decrements observed in the
physical and vitality subscales.
Differential Diagnosis
Primary snoring and other sleep disorders. Individuals with obstructive sleep apnea
hypopnea must be differentiat ed from individuals with primary snoring (i.e., otherwise | dsm5.pdf |
b17702a8a81b-0 | 382 Sleep-Wake Disorders
asymptomatic individuals who snore and do not have abnorm alities on overnight polysom-
nography). Individuals with obstructive sl eep apnea hypopnea may additionally report
nocturnal gasping and choking. The presence of sleepiness or other daytime symptoms
not explained by other etiolo gies suggests the diagnosis of obstructive sleep apnea hypop-
nea, but this differentiation requires polysomnography. Defi nitive differential diagnosis
between hypersomnia, central sleep apnea, sleep-related hypoventilation, and obstructive
sleep apnea hypopnea also requ ires polysomnographic studies.
Obstructive sleep apnea hypopnea must be diff erentiated from other causes of sleepi-
ness, such as narcolepsy, hypersomnia, and ci rcadian rhythm sleep d isorders. Obstructive
sleep apnea hypopnea can be differentiated from narcolepsy by the absence of cataplexy,
sleep-related hallucinations, and sleep paraly sis and by the presence of loud snoring,
gasping during sleep, or observed apneas in sleep. Daytime sleep episodes in narcolepsy
are characteristically shorter, more refreshing, and more of ten associated with dreaming.
Obstructive sleep apnea hypopnea shows characteristic apneas and hypopneas and oxy-
gen desaturation during nocturnal polysomnog raphic studies. Narcolepsy results in mul-
tiple sleep-onset rapid eye movement (REM) periods during the MS LT. Narcolepsy, like
obstructive sleep apnea hypopnea, may be asso ciated with obesity, and some individuals
have concurrent narcolepsy and obstructive sleep apnea hypopnea. A diagnosis of narco- | dsm5.pdf |
b17702a8a81b-1 | lepsy does not exclude the di agnosis of obstructive sleep apnea hypopnea, as the two con-
ditions may co-occur.
Insomnia disorder. For individuals complaining of difficulty initiating or maintaining
sleep or early-morning awakenings, insomnia disorder can be differen tiated from obstruc-
tive sleep apnea hypopnea by the absence of sn oring and the absence of the history, signs,
and symptoms characteri stic of the latter disorder. However, insomnia and obstructive
sleep apnea hypopnea may coexist, and if so , both disorders may need to be addressed
concurrently to improve sleep.
Panic attacks. Nocturnal panic attacks may include symptoms of gasping or choking
during sleep that may be difficult to distinguish clinically from obst ructive sleep apnea hy-
popnea. However, the lower frequency of episo des, intense autonomic arousal, and lack of
excessive sleepiness differentiate nocturnal pa nic attacks from obstructive sleep apnea hy-
popnea. Polysomnography in individuals with nocturnal panic attacks does not reveal the
typical pattern of apneas or oxygen desaturation characteristic of obstructive sleep apnea
hypopnea. Individuals with obstructive slee p apnea hypopnea do not provide a history of
daytime panic attacks.
Attention-deficit/hyperactivity disorder. Attention-deficit/hyperact ivity disorder in chil-
dren may include symptoms of inattention, academic impairment, hyperactivity, and in-
ternalizing behaviors, all of which may also be symptoms of chil dhood obstructive sleep
apnea hypopnea. The presence of other symptoms and signs of childhood obstructive
sleep apnea hypopnea (e.g., labored breathing or snoring during sleep and adenotonsillar | dsm5.pdf |
b17702a8a81b-2 | hypertrophy) would suggest the presence of obstructive sl eep apnea hypopnea. Obstruc-
tive sleep apnea hypopnea and attention-de ficit/hyperactivity disorder may commonly
co-occur, and there may be causal links between them; therefore, risk factors such as en-
larged tonsils, obesity, or a family history of sleep apnea may help alert the clinician to
their co-occurrence.
Substance/medication-induced insomnia or hypersomnia. Substance use and substance
withdrawal (including medications) can prod uce insomnia or hypersomnia. A careful his-
tory is usually sufficient to identify the relevant substa nce/medication, and follow-up
shows improvement of the sleep distur bance after discontinuation of the substance/med- | dsm5.pdf |
c5ebe016eb2d-0 | tory is usually sufficient to identify the relevant substa nce/medication, and follow-up
shows improvement of the sleep distur bance after discontinuation of the substance/med-
ication. In other cases, the use of a substanc e/medication (e.g., alcohol, barbiturates, ben-
zodiazepines, tobacco) has been shown to exacerbate obst ructive sleep apnea hypopnea.
An individual with sy mptoms and signs cons istent with obstructive sleep apnea hypop- | dsm5.pdf |
f9a468c8d709-0 | Central Sleep Apnea 383
nea should receive that diagnosis, even in th e presence of concurrent substance use that is
exacerbating the condition.
Comorbidity
Systemic hypertension, coronary artery disease, heart failure, stroke, diabetes, and increased
mortality are consistently asso ciated with obstructive slee p apnea hypopnea. Risk esti-
mates vary from 30% to as much as 300% for moderate to severe obstructive sleep apnea
hypopnea. Evidence of pulmonary hypertensi on and right heart fa ilure (e.g., cor pulmo-
nale, ankle edema, hepatic congestion) are ra re in obstructive sleep apnea hypopnea and
when present indicate either very severe di sease or associated hypoventilation or cardio-
pulmonary comorbidities. Obstructive sleep apnea hypopnea also may occur with in-
creased frequency in association with a number of medical or neurological conditions (e.g.,
cerebrovascular disease, Parkinson’s disease). Physical findings refl ect the co-occurrence of
these conditions.
As many as one-third of individuals referred for evaluation of obstructive sleep apnea
hypopnea report symptoms of depression, with as many of 10% having depression scores
consistent with moderate to severe depressi on. Severity of obstructive sleep apnea hypop-
nea, as measured by the apnea hypopnea index, has been found to be correlated with se-
verity of symptoms of depression. This a ssociation may be stronger in males than in
females.
Relationship to Internat ional Classification of
Sleep Disorders
The International Classification of Sleep Disorders, 2nd Edition (ICSD-2), differentiates 11 sub-
types of “sleep-related breath ing disorders,” including primary central sleep apnea, ob- | dsm5.pdf |
f9a468c8d709-1 | types of “sleep-related breath ing disorders,” including primary central sleep apnea, ob-
structive sleep apnea, and sle ep-related hypoventilation.
Central Sleep Apnea
Diagnostic Criteria
A. Evidence by polysomnography of five or more central apneas per hour of sleep.
B. The disorder is not better explained by another current sleep disorder.
Specify whether:
327.21 (G47.31) Idiopathic central sleep apnea: Characterized by repeated epi-
sodes of apneas and hypopneas during sleep caused by variability in respiratory effort
but without evidence of airway obstruction.
786.04 (R06.3) Cheyne-Stokes breathing: A pattern of periodic crescendo-
decrescendo variation in tidal volume that results in central apneas and hypopneas at
a frequency of at least five events per hour, accompanied by frequent arousal.
780.57 (G47.37) Central sleep apnea comorbid with opioid use: The pathogenesis
of this subtype is attributed to the effects of opioids on the respiratory rhythm genera-
tors in the medulla as well as the differential effects on hypoxic versus hypercapnic re-
spiratory drive.
Coding note (for 780.57 [G47.37] code only): When an op ioid use disorder is present, first
code the opioid use disorder: 305.50 (F11.10) m ild opioid use disorder or 304.00 (F11.20)
moderate or severe opioid use disorder; then code 780.57 (G47.37) central sleep apnea
comorbid with opioid use. When an opioid use disorder is not present (e.g., after a one- | dsm5.pdf |
f9a468c8d709-2 | time heavy use of the substance), code only 780.57 (G47.37) central sleep apnea comor-
bid with opioid use. | dsm5.pdf |
910ad5b41fc6-0 | 384 Sleep-Wake Disorders
Note: See the section “Diagnostic Features” in text.
Specify current severity:
Severity of central sleep apnea is graded according to the frequency of the breathing
disturbances as well as the extent of associated oxygen desaturation and sleep frag-
mentation that occur as a consequence of repetitive respiratory disturbances.
Subtypes
Idiopathic central sleep apnea and Cheyne-Stokes breathing are characterized by increased
gain of the ventilatory contro l system, also referred to as high loop gain, which leads to in-
stability in ventilation and PaCO2 levels. This instability is termed periodic breathing and
can be recognized by hyperventilation alternating with hypoventilation. Individuals with
these disorders typically have pCO2 levels while awake that are slightly hypocapneic or
normocapneic. Central sleep apnea may also mani fest during initiation of treatment of ob-
structive sleep apnea hypopnea or may occur in association with obstructive sleep apnea
hypopnea syndrome (termed complex sleep apnea ). The occurrence of central sleep apnea in
association with obstructive slee p apnea is also considered to be due to high loop gain. In
contrast, the pathogenesis of central sleep apnea comorbid wi th opioid use has been at-
tributed to the effects of opioids on the re spiratory rhythm generators in the medulla as
well as to its differential effects on hypoxic versus hypercapneic respiratory drive. These
individuals may have elevated pCO2 levels while awake. Individuals receiving chronic
methadone maintenance therapy have been no ted to have increased somnolence and de-
pression, although the ro le of breathing disorders associated with opioid medication in caus-
ing these problems has not been studied.
Specifiers | dsm5.pdf |
910ad5b41fc6-1 | ing these problems has not been studied.
Specifiers
An increase in the central apnea index (i.e., number of central apneas per hour of sleep) re-
flects an increase in severity of central sleep apnea. Sleep continuity and quality may be
markedly impaired with reductions in restor ative stages of non–rapid eye movement (REM)
sleep (i.e., decreased slow-wav e sleep [stage N3]). In indi viduals with severe Cheyne-
Stokes breathing, the pattern can also be ob served during resting wakefulness, a finding
that is thought to be a poor prognostic marker for mortality.
Diagnostic Features
Central sleep apnea disorders ar e characterized by repeated episodes of apneas and hy-
popneas during sleep caused by variability in respiratory effort. These are disorders of
ventilatory control in which resp iratory events occur in a peri odic or intermittent pattern.
Idiopathic central sleep apnea is characterized by sleepiness, insomnia, and awakenings due
to dyspnea in association with five or more central apneas per hour of sleep. Central sleep
apnea occurring in individuals with heart failu re, stroke, or renal failure typically have a
breathing pattern called Cheyne-Stok es breathing, which is characterized by a pattern of
periodic crescendo-decrescendo variation in tidal volume that results in central apneas
and hypopneas occurring at a frequency of at least five events per hour that are accompa-
nied by frequent arousals. Central and obstru ctive sleep apneas may coexist; the ratio of
central to obstructive apneas/hypopneas may be used to identify which condition is pre-
dominant.
Alterations in neuromuscular control of br eathing can occur in association with med- | dsm5.pdf |
910ad5b41fc6-2 | Alterations in neuromuscular control of br eathing can occur in association with med-
ications or substances used in individuals with mental health conditions, which can cause
or exacerbate impairme nts of respiratory rhythm and ventilation. Individuals taking these
medications have a sleep-related breathing diso rder that could contribute to sleep distur-
bances and symptoms such as sleepiness, confusion, and depression. Specifically, chronic | dsm5.pdf |
683810da764d-0 | Central Sleep Apnea 385
use of long-acting opioid medications is often associated with im pairment of respiratory con-
trol leading to central sleep apnea.
Associated Features Supporting Diagnosis
Individuals with central sleep apnea hypopneas can manifest with sleepiness or insomnia.
There can be complaints of sleep fragment ation, including awakening with dyspnea.
Some individuals are asymptomatic. Obstruct ive sleep apnea hypopnea can coexist with
Cheyne-Stokes breathing, and thus snoring and abruptly terminating apneas may be ob-
served during sleep.
Prevalence
The prevalence of idiopathic central sleep apnea is unknown but thought to be rare. The
prevalence of Cheyne-Stokes breathing is high in individuals with depressed cardiac ven-
tricular ejection fraction. In individuals with an ejection fraction of less than 45%, the prev-
alence has been reported to be 20% or high er. The male-to-female ratio for prevalence is
even more highly skewed toward males than for obstructive sleep apnea hypopnea. Prev-
alence increases with age, and most patients are older than 60 years. Cheyne-Stokes breath-
ing occurs in approximately 20% of individu als with acute stroke. Central sleep apnea
comorbid with opioid use occurs in approxim ately 30% of individuals taking chronic opi-
oids for nonmalignant pain and similarly in individuals receiving methadone mainte-
nance therapy.
Development and Course
The onset of Cheyne-Stokes breathing appears tied to the deve lopment of heart failure. The
Cheyne-Stokes breathing pattern is associated with oscillations in heart rate, blood pres-
sure and oxygen desaturation, and elevated sy mpathetic nervous system activity that can | dsm5.pdf |
683810da764d-1 | sure and oxygen desaturation, and elevated sy mpathetic nervous system activity that can
promote progression of heart failure. The clinic al significance of Cheyne-Stokes breathing
in the setting of stroke is no t known, but Cheyne-Stokes breathing may be a transient find-
ing that resolves with time after acute stro ke. Central sleep apnea comorbid with opioid
use has been documented with chro nic use (i.e., several months).
Risk and Prognostic Factors
Genetic and physiological. Cheyne-Stokes breathing is freq uently present in individu-
als with heart failure. The coexistence of atrial fibrillation further increases risk, as do older
age and male gender. Cheyne-Stokes breathing is also seen in association with acute stroke
and possibly renal failure. The underlying ventila tory instability in the setting of heart fail-
ure has been attributed to increased ventilatory chemos ensitivity and hyperventilation
due to pulmonary vascular congestion and ci rculatory delay. Central sleep apnea is seen
in individuals taking long-acting opioids.
Diagnostic Markers
Physical findings seen in individuals with a Cheyne-Stokes breathing pattern relate to its
risk factors. Findings consiste nt with heart failure, such as jugular venous distension, S3
heart sound, lung crackles, and lower extremity edema, may be present. Polysomnogra-
phy is used to characterize the breathing characteristics of each breathing-related sleep
disorder subtype. Central sl eep apneas are recorded when periods of breathing cessation
for longer than 10 seconds occur. Cheyne-Sto kes breathing is characterized by a pattern of
periodic crescendo-decrescend o variation in tidal volume that results in central apneas
and hypopneas occurring at a frequency of at least five events per hour that are accompa- | dsm5.pdf |
683810da764d-2 | nied by frequent arousals. The cycle length of Cheyne-Stokes breathing (or time from end
of one central apnea to the end of the next apnea) is about 60 seconds. | dsm5.pdf |
aa226ac33825-0 | 386 Sleep-Wake Disorders
Functional Consequences of Central Sleep Apnea
Idiopathic central sleep apnea has been report ed to cause symptoms of disrupted sleep, in-
cluding insomnia and sleepines s. Cheyne-Stokes breathing with comorbid heart failure
has been associated with excessive sleepine ss, fatigue, and insomnia, although many in-
dividuals may be asymptomatic. Coexistence of heart failure and Cheyne-Stokes breath-
ing may be associated with increased card iac arrhythmias and increased mortality or
cardiac transplantation. Individuals with central sleep apnea comorbid with opioid use
may present with symptoms of sleepiness or insomnia.
Differential Diagnosis
Idiopathic central sleep apnea must be distinguished from other breathing-related sleep
disorders, other sleep disorders, and medical conditions and mental disorders that cause
sleep fragmentation, sleepiness, and fatigue. This is achieved using polysomnography.
Other breathing-related sleep disorders and sleep disorders. Central sleep apnea can
be distinguished from obstructive sleep apne a hypopnea by the presen ce of at least five
central apneas per hour of sleep. These condit ions may co-occur, but central sleep apnea is
considered to predominate when the ratio of central to obstructive respiratory events ex-
ceeds 50%.
Cheyne-Stokes breathing can be distinguishe d from other mental disorders, including
other sleep disorders, and othe r medical conditions that caus e sleep fragmentation, sleep-
iness, and fatigue based on the presence of a predisposing condition (e.g., heart failure or
stroke) and signs and polysomnographic evidence of the characteristic breathing pattern.
Polysomnographic respiratory findings can help distinguish Cheyne-Stokes breathing
from insomnia due to other medical conditio ns. High-altitude periodic breathing has a | dsm5.pdf |
aa226ac33825-1 | from insomnia due to other medical conditio ns. High-altitude periodic breathing has a
pattern that resembles Cheyne-Stokes breathin g but has a shorter cycle time, occurs only
at high altitude, and is not associated with heart failure.
Central sleep apnea comorbid with opioid us e can be differentiated from other types of
breathing-related sleep disorders based on the use of long-acting opioid medications in
conjunction with polysomnographic evidence of central apneas and periodic or ataxic
breathing. It can be distinguished from inso mnia due to drug or substance use based on
polysomnographic evidence of central sleep apnea.
Comorbidity
Central sleep apnea disorders are frequently pr esent in users of long-acting opioids, such
as methadone. Individuals taking these medi cations have a sleep-related breathing disor-
der that could contribute to sleep disturbances and symptoms such as sleepiness, confu-
sion, and depression. While the individual is asleep, breathing patterns such as central
apneas, periodic apneas, and ataxic breathing may be observed. Obstructive sleep apnea
hypopnea may coexist with central sleep apnea, and features consiste nt with this condi-
tion can also be present (see “Obstructive Sleep Apnea Hypopnea” earlier in this chapter).
Cheyne-Stokes breathing is more commonly obse rved in association with conditions that
include heart failure, stroke, and renal failure and is seen more frequently in individuals
with atrial fibrillation. Individuals with Ch eyne-Stokes breathing are more likely to be
older, to be male, and to have lower weight than individual s with obstructive sleep apnea
hypopnea. | dsm5.pdf |
499a31d2c748-0 | Sleep-Related Hypoventilation 387
Sleep-Related Hypoventilation
Diagnostic Criteria
A. Polysomnograpy demonstrates episodes of decreased respiration associated with el-
evated CO2 levels. ( Note: In the absence of objective measurement of CO2, persistent
low levels of hemoglobin oxygen saturation unassociated with apneic/hypopneic
events may indicate hypoventilation.)
B. The disturbance is not better explained by another current sleep disorder.
Specify whether:
327.24 (G47.34) Idiopathic hypoventilation: This subtype is not attributable to any
readily identified condition.
327.25 (G47.35) Congenital centr al alveolar hypoventilation: This subtype is a rare
congenital disorder in which the individual typically presents in the perinatal period with
shallow breathing, or cyanosis and apnea during sleep.
327.26 (G47.36) Comorbid sleep -related hypoventilation: This subtype occurs as a
consequence of a medical condition, such as a pulmonary disorder (e.g., interstitial
lung disease, chronic obstructive pulmonary disease) or a neuromuscular or chest wall
disorder (e.g., muscular dystrophies, postpolio syndrome, cervical spinal cord injury,
kyphoscoliosis), or medications (e.g., benzodiazepines, opiates). It also occurs with
obesity (obesity hypoventilation disorder), where it reflects a combination of increased
work of breathing due to reduced chest wall compliance and ventilation-perfusion mis-
match and variably reduced ventilatory drive. Such individuals usually are character-
ized by body mass index of greater than 30 and hypercapnia during wakefulness (with
a pCO2 of greater than 45), without other evidence of hypoventilation. | dsm5.pdf |
499a31d2c748-1 | Specify current severity:
Severity is graded according to the degree of hypoxemia and hypercarbia present dur-
ing sleep and evidence of end organ impairment due to these abnormalities (e.g., right-
sided heart failure). The presence of blood gas abnormalities during wakefulness is an
indicator of greater severity.
Subtypes
Regarding obesity hypoventilati on disorder, the prevalence of obesity hypoventilation in
the general population is not known but is thought to be increasing in association with the
increased prevalence of obesity and extreme obesity.
Diagnostic Features
Sleep-related hypoventilation can occur in dependently or, more frequently, comorbid
with medical or neurological disorders, medi cation use, or substa nce use disorder. Al-
though symptoms are not mandatory to make this diagnosis, individuals often report
excessive daytime sleepiness, frequent arou sals and awakenings during sleep, morning
headaches, and insomnia complaints.
Associated Features Supporting Diagnosis
Individuals with sleep-related hypoventilation can present with sl eep-related complaints
of insomnia or sleepiness. Episodes of orth opnea can occur in individuals with diaphragm
weakness. Headaches upon awakening may be pr esent. During sleep, episodes of shallow
breathing may be observed, an d obstructive sleep apnea hypo pnea or central sleep apnea
may coexist. Consequences of ventilatory in sufficiency, includin g pulmonary hyperten-
sion, cor pulmonale (right heart failure), polycythemia, and neurocognitive dysfunction, | dsm5.pdf |
f0434e26566a-0 | 388 Sleep-Wake Disorders
can be present. With progression of ventilato ry insufficiency, bloo d gas abnormalities ex-
tend into wakefulness. Features of the me dical condition causing sleep-related hypoven-
tilation can also be present. Episodes of hy poventilation may be as sociated with frequent
arousals or bradytachycardia. Individuals ma y complain of excessive sleepiness and in-
somnia or morning headaches or may present wi th findings of neuroc ognitive dysfunction
or depression. Hypoventilation may not be present during wakefulness.
Prevalence
Idiopathic sleep-related hypoventilation in adults is very uncommon. The prevalence of
congenital central alveolar hy poventilation is unknown, but the disorder is rare. Comor-
bid sleep-related hypoventilation (i.e., hypo ventilation comorbid with other conditions,
such as chronic obstructive pulmonary diseas e [COPD], neuromuscular disorders, or obe-
sity) is more common.
Development and Course
Idiopathic sleep-related hypove ntilation is thought to be a slowly progressive disorder of
respiratory impairment. When th is disorder occurs comorbidly with other disorders (e.g.,
COPD, neuromuscular disorders, obesity), diseas e severity reflects the severity of the un-
derlying condition, and the disorder progre sses as the condition worsens. Complications
such as pulmonary hypertension, cor pulmon ale, cardiac dysrhythmias, polycythemia,
neurocognitive dysfunction, and worsening re spiratory failure can develop with increas-
ing severity of blood gas abnormalities.
Congenital central alveolar hypoventilation usually manifests at birth with shallow, | dsm5.pdf |
f0434e26566a-1 | Congenital central alveolar hypoventilation usually manifests at birth with shallow,
erratic, or absent breathing. This disorder can also manifest during infancy, childhood,
and adulthood because of va riable penetrance of the PHOX2B mutation. Children with
congenital central alveolar hypo ventilation are more likely to have disorders of the auto-
nomic nervous system, Hirschsprung’s disease, neural crest tumors, and characteristic box-
shaped face (i.e., the face is short relative to its width).
Risk and Prognostic Factors
Environmental. Ventilatory drive can be reduced in individuals using central nervous
system depressants, including benzod iazepines, opiates, and alcohol.
Genetic and physiological. Idiopathic sleep-related hypoventilation is associated with
reduced ventilatory drive due to a blunted chemoresponsiveness to CO2 (reduced respi-
ratory drive; i.e., “won’t brea the”), reflecting underlying neurological deficits in centers
governing the control of ventilation. More co mmonly, sleep-related hypoventilation is co-
morbid with another medical condition, su ch as a pulmonary diso rder, a neuromuscular
or chest wall disorder, or hypothyroidism, or with use of medications (e.g., benzodiaze-
pines, opiates). In these conditions, the hy poventilation may be a consequence of in-
creased work of breathing and/or impairment of respiratory muscle function (i.e., “can’t
breathe”) or reduced respiratory drive (i.e., “won’t breathe”).
Neuromuscular disorders influence breathin g through impairment of respiratory mo-
tor innervation or respiratory muscle function. They include conditions such as amyo- | dsm5.pdf |
f0434e26566a-2 | tor innervation or respiratory muscle function. They include conditions such as amyo-
trophic lateral sclerosis, spinal cord injury , diaphragmatic paralysis, myasthenia gravis,
Lambert-Eaton syndrome, toxic or metabolic myopathies, postpolio syndrome, and Char-
cot-Marie-Tooth syndrome.
Congenital central alveolar hypoventilation is a genetic disorder at tributable to muta-
tions of PHOX2B, a gene that is crucial for the de velopment of the embryonic autonomic
nervous system and neural crest derivatives. Children with congenital central alveolar hy-
poventilation show blunted vent ilatory responses to hypercapnia, especially in non–rapid
eye movement sleep. | dsm5.pdf |
c898c0c59f81-0 | Sleep-Related Hypoventilation 389
Gender-Related Diagnostic Issues
Gender distributions for sleep-related hypove ntilation occurring in association with co-
morbid conditions reflect the gender distributions of the co morbid conditions. For exam-
ple, COPD is more frequently present in males and with increasing age.
Diagnostic Markers
Sleep-related hypoventilation is diagnosed using polysomnography showing sleep-related
hypoxemia and hypercapnia that is not better explained by another breathing-related sleep
disorder. The documentation of increased arterial pCO2 levels to greater than 55 mmHg
during sleep or a 10 mmHg or greater increase in pCO2 levels (to a level that also exceeds
50 mmHg) during sleep in comparison to awake supine values, for 10 minutes or longer, is
the gold standard for diagnosis. However, obtaining arterial blood gas determinations dur-
ing sleep is impractical, and non-invasive measures of pCO2 have not been adequately val-
idated during sleep and are not widely used during polysomnography in adults. Prolonged
and sustained decreases in oxyg en saturation (oxygen saturation of less than 90% for more
than 5 minutes with a nadir of at least 85%, or oxygen saturation of less than 90% for at least
30% of sleep time) in the absence of evidence of upper airway obstruction are often used as
an indication of sleep- related hypoventilation; however, this finding is not sp ecific, as there
are other potential causes of hypoxemia, such as that due to lung disease.
Functional Consequences of
Sleep-Related Hypoventilation
The consequences of sleep-related hypoventilati on are related to the effects of chronic ex- | dsm5.pdf |
c898c0c59f81-1 | The consequences of sleep-related hypoventilati on are related to the effects of chronic ex-
posure to hypercapnia and hypoxemia. Th ese blood gas derangements cause vasocon-
striction of the pulmonary va sculature leading to pulmon ary hypertension, which, if
severe, can result in right-sided heart failure (cor pulmonale). Hypo xemia can lead to dys-
function of organs such as the brain, blood, and heart, leading to outcomes such as cog-
nitive dysfunction, polycythemia, and cardiac arrhythmias. Hypercapnia can depress
ventilatory drive, leading to pr ogressive respiratory failure.
Differential Diagnosis
Other medical conditions affecting ventilation. In adults, the idiopathic variety of sleep-
related hypoventilation is very uncommon and is determined by excluding the presence of
lung diseases, skeletal malformations, neuromuscular disorders, and other medical and
neurological disorders or medications that affect ventilation. Sleep-related hypoventila-
tion must be distinguished from other causes of sleep-related hypoxemia, such as that due
to lung disease.
Other breathing-related sleep disorders. Sleep-related hypoventilation can be distin-
guished from obstructive sleep apnea hypopnea and central sleep apnea based on clinical
features and findings on polysomnography. Sl eep-related hypoventilation typically shows
more sustained periods of oxygen desaturation rather that the periodic episodes seen in
obstructive sleep apnea hypopnea and central sleep apnea. Obstructive sleep apnea hy-
popnea and central sleep apnea also show a pa ttern of discrete epis odes of re peated air-
flow decreases that can be absent in sleep-related hypoventilation.
Comorbidity | dsm5.pdf |
c898c0c59f81-2 | flow decreases that can be absent in sleep-related hypoventilation.
Comorbidity
Sleep-related hypoventilation often occurs in a ssociation with a pulmonary disorder (e.g., in-
terstitial lung disease, COPD), with a neurom uscular or chest wall disorder (e.g., muscular
dystrophies, post-polio syndrome, cervical spinal cord in jury, obesity, kyphoscoliosis), or, | dsm5.pdf |
39f8696626b3-0 | 390 Sleep-Wake Disorders
most relevant to the mental he alth provider, with medication use (e.g., benzodiazepines, opi-
ates). Congenital central alveol ar hypoventilation often occurs in association with autonomic
dysfunction and may occur in association with Hirschsprung’s disease. COPD, a disorder of
lower airway obstruction usually associated with cigarette sm oking, can result in sleep-
related hypoventilation and hypoxemia. The pres ence of coexisting obstructive sleep apnea
hypopnea is thought to exacerbate hypoxemia and hypercapnia during sleep and wakeful-
ness. The relationship between congenital central alveolar hypoventilation and idiopathic
sleep-related hypoventilation is unclear; in some individuals, idiopathic sleep-related hy-
poventilation may represent cases of late-onset congenital central alveolar hypoventilation.
Relationship to Internat ional Classification of
Sleep Disorders
The International Classificat ion of Sleep Disorders, 2nd Edition (ICSD-2), combines sleep-
related hypoventilation and sleep-related hypo xemia under the category of sleep-related
hypoventilation/hypoxemic syndromes. This ap proach to classificati on reflects the fre-
quent co-occurrence of disorder s that lead to hypoventilation and hypoxemia. In contrast,
the classification used in DS M-5 reflects evidence that th ere are distinct sleep-related
pathogenetic processes le ading to hypoventilation.
Circadian Rhythm Sleep-Wake Disorders
Diagnostic Criteria
A. A persistent or recurrent pattern of sleep disruption that is primarily due to an alteration
of the circadian system or to a misalignment between the endogenous circadian
rhythm and the sleep–wake schedule required by an individual’s physical environment | dsm5.pdf |
39f8696626b3-1 | rhythm and the sleep–wake schedule required by an individual’s physical environment
or social or professional schedule.
B. The sleep disruption leads to excessive sleepiness or insomnia, or both.
C. The sleep disturbance causes clinically significant distress or impairment in social, oc-
cupational, and other important areas of functioning.
Coding note: For ICD-9-CM, code 307.45 for all subtypes. For ICD-10-CM, code is based
on subtype.
Specify whether:
307.45 (G47.21) Delayed sleep phase type: A pattern of delayed sleep onset and
awakening times, with an inability to fall asleep and awaken at a desired or convention-
ally acceptable earlier time.
Specify if:
Familial: A family history of delayed sleep phase is present.
Specify if:
Overlapping with non-24-hour sleep-wake type: Delayed sleep phase type
may overlap with another circadian rhythm sleep-wake disorder, non-24-hour
sleep-wake type.
307.45 (G47.22) Advanced sleep phase type: A pattern of advanced sleep onset and
awakening times, with an inability to remain awake or asleep until the desired or con-
ventionally acceptable later sleep or wake times.
Specify if:
Familial: A family history of advanced sleep phase is present.
307.45 (G47.23) Irregular sleep-wake type: A temporally disorganized sleep-wake
pattern, such that the timing of sleep and wake periods is variable throughout the 24-
hour period. | dsm5.pdf |
1071011f5e14-0 | Circadian Rhythm Sleep-Wake Disorders 391
307.45 (G47.24) Non-24-hour sleep-wake type: A pattern of sleep-wake cycles that
is not synchronized to the 24-hour environment, with a consistent daily drift (usually to
later and later times) of sleep onset and wake times.
307.45 (G47.26) Shift work type: Insomnia during the major sleep period and/or ex-
cessive sleepiness (including inadvertent sleep) during the major awake period asso-
ciated with a shift work schedule (i.e., requiring unconventional work hours).
307.45 (G47.20) Unspecified type
Specify if:
Episodic: Symptoms last at least 1 month but less than 3 months.
Persistent: Symptoms last 3 months or longer.
Recurrent: Two or more episodes occur within the space of 1 year.
Delayed Sleep Phase Type
Diagnostic Features
The delayed sleep phase type is based primarily on a history of a delay in the timing of the
major sleep period (usually more than 2 hours) in relation to the desired sleep and wake-
up time, resulting in symptoms of insomnia and excessive sleepiness. When allowed to set
their own schedule, individuals with delayed sleep phase type exhibit normal sleep qual-
ity and duration for age. Symptoms of slee p-onset insomnia, diffic ulty waking in the
morning, and excessive early day sleepiness are prominent.
Associated Features Supporting Diagnosis
Common associated features of delayed sleep phase type include a hi story of mental dis-
orders or a concurrent mental disorder. Ex treme and prolonged difficulty awakening with
morning confusion is also common. Psychophy siological insomnia may develop as a re-
sult of maladaptive behaviors that impair sleep and increase arousal because of repeated | dsm5.pdf |
1071011f5e14-1 | sult of maladaptive behaviors that impair sleep and increase arousal because of repeated
attempts to fall asleep at an earlier time.
Prevalence
Prevalence of delayed sleep phase type in the general population is approximately 0.17%
but appears to be greater than 7% in adolescents. Although the prevalence of familial de-
layed sleep phase type has not been established , a family history of delayed sleep phase is
present in individuals with delayed sleep phase type.
Development and Course
Course is persistent, lasting longer than 3 mo nths, with intermittent exacerbations through-
out adulthood. Although age at onset is variable, symptoms begin typically in adolescence
and early adulthood and persist for several mo nths to years before diagnosis is estab-
lished. Severity may decrease with ag e. Relapse of symptoms is common.
Clinical expression may vary across the lif espan depending on social, school, and work
obligations. Exacerbation is usua lly triggered by a change in work or school schedule that
requires an early rise time. Individuals wh o can alter their work schedules to accommo-
date the delayed circadian sleep and wake timing can experience remission of symptoms.
Increased prevalence in adolescence may be a consequence of both physiological and be-
havioral factors. Hormonal changes may be involved specifically, as delayed sleep phase is as-
sociated with the onset of puberty. Thus, de layed sleep phase type in adolescents should be
differentiated from the common delay in the timi ng of circadian rhythms in this age group. In
the familial form, the course is persistent and may not improve significantly with age. | dsm5.pdf |
6195edf2bffe-0 | 392 Sleep-Wake Disorders
Risk and Prognostic Factors
Genetic and physiological. Predisposing factors may include a longer than average cir-
cadian period, changes in light sensitivity, an d impaired homeostatic sleep drive. Some in-
dividuals with delayed sleep phase type may be hypersensi tive to evening light, which
can serve as a delay signal to the circadian cloc k, or they may be hy posensitive to morning
light such that its phase-advancing effects ar e reduced. Genetic factors may play a role in
the pathogenesis of familial and sporadic forms of delayed sleep phase type, including
mutations in circadian genes (e.g., PER3 , CKIe ).
Diagnostic Markers
Confirmation of the diagnosis includes a complete history and use of a sleep diary or actigra-
phy (i.e., a wrist-worn motion detector that mo nitors motor activity for prolonged periods and
can be used as a proxy for sleep-wake patterns for at least 7 days). Th e period covered should
include weekends, when social an d occupational obligations are le ss strict, to ensure that the
individual exhibits a consistently delayed slee p-wake pattern. Biomarkers such as salivary
dim light melatonin onset should be obtain ed only when the diagnosis is unclear.
Functional Consequences of Delayed Sleep Phase Type
Excessive early day sleepiness is prominent. Ex treme and prolonged difficulty awakening
with morning confusion (i.e., sleep inertia) is also common. The severity of insomnia and
excessive sleepiness symptoms varies substa ntially among individuals and largely de-
pends on the occupational and social demands on the individual.
Differential Diagnosis
Normative variations in sleep. Delayed sleep phase type must be distinguished from
“normal” sleep patterns in which an individual has a late schedule that does not cause | dsm5.pdf |
6195edf2bffe-1 | “normal” sleep patterns in which an individual has a late schedule that does not cause
personal, social, or occupational distress (m ost commonly seen in adolescents and young
adults).
Other sleep disorders. Insomnia disorder and other circadian rhythm sleep-wake dis-
orders should be included in the differenti al. Excessive sleepiness may also be caused by
other sleep disturbances, such as breathing- related sleep disorders, insomnias, sleep-
related movement disorders, and medical, ne urological, and mental disorders. Overnight
polysomnography may help in evaluating for other comorbid sleep disorders, such as
sleep apnea. The circadian nature of delaye d sleep phase type, howe ver, should differen-
tiate it from other disorders with similar complaints.
Comorbidity
Delayed sleep phase type is strongly associated with depression, personality disorder, and
somatic symptom disorder or illness anxiety d isorder. In addition, comorbid sleep disor-
ders, such as insomnia disorder, restless legs syndrome, and sleep apnea, as well as depres-
sive and bipolar disorders and anxiety disord ers, can exacerbate symptoms of insomnia
and excessive sleepiness. Delayed sleep phase type may overlap with another circadian
rhythm sleep-wake diso rder, non-24-ho ur sleep-wake type. Sighted individuals with non-
24-hour sleep-wake type disorder commonly also have a history of delayed circadian sleep
phase. | dsm5.pdf |
6061d43f9662-0 | Circadian Rhythm Sleep-Wake Disorders 393
Advanced Sleep Phase Type
Specifiers
Advanced sleep phase type may be document ed with the specified “familial.” Although
the prevalence of familial adva nced sleep phase type has no t been established, a family
history of advanced sleep phase is present in individuals with advanced sleep phase type.
In this type, specific mutations demonstrate an autosomal dominant mode of inheritance.
In the familial form, onset of symptoms ma y occur earlier (during childhood and early
adulthood), the course is persistent, and the se verity of symptoms may increase with age.
Diagnostic Features
Advanced sleep phase type is characterized by sleep-wake times that are several hours
earlier than desired or conventional times. Di agnosis is based primarily on a history of an
advance in the timing of the major sleep period (usually more than 2 hours) in relation to
the desired sleep and wake-up time, with sy mptoms of early morning insomnia and ex-
cessive daytime sleepiness. When allowed to set their schedule, individuals with ad-
vanced sleep phase type will exhibit norm al sleep quality and duration for age.
Associated Features Supporting Diagnosis
Individuals with advanced sleep phase type are “morning types,” having earlier sleep-
wake times, with the timing of circadian biom arkers such as melatonin and core body tem-
perature rhythms occurring 2–4 hours earlier th an normal. When required to keep a con-
ventional schedule requiring a delay of bedtim e, these individuals will continue to have an
early rise time, leading to persistent sleep de privation and daytime sleepiness. Use of hyp-
notics or alcohol to combat sleep-maintenance insomnia and stimulants to reduce daytime
sleepiness may lead to substance abuse in these individuals.
Prevalence | dsm5.pdf |
6061d43f9662-1 | sleepiness may lead to substance abuse in these individuals.
Prevalence
The estimated prevalence of advanced sleep phase type is approximately 1% in middle-
age adults. Sleep-wake times and circadian pha se advance in older individuals, probably
accounting for increased prevalence in this population.
Development and Course
Onset is usually in late adulthood. In the familial form, onset can be earlier. The course is typ-
ically persistent, lasting more than 3 months, but the severity may increase depending on work
and social schedules. The advanced sleep pha se type is more common in older adults.
Clinical expression may vary across the lif espan depending on social, school, and work
obligations. Individuals who can alter their work schedules to ac commodate the advanced
circadian sleep and wake timing can experience remission of symptoms. Increasing age
tends to advance the sleep phase, however, it is unclear whether the common age-associ-
ated advanced sleep phase type is due solely to a change in circadian timing (as seen in the
familial form) or also to age-related changes in the homeostatic regulation of sleep, result-
ing in earlier awakening. Severi ty, remission, and relapse of symptoms suggest lack of ad-
herence to behavioral and environmental trea tments designed to control sleep and wake
structure and lig ht exposure. | dsm5.pdf |
10c8fd79f2da-0 | 394 Sleep-Wake Disorders
Risk and Prognostic Factors
Environmental. Decreased late afternoon/early evening exposure to light and/or expo-
sure to early morning light du e to early morning awakening can increase the risk of ad-
vanced sleep phase type by advancing circadian rhythms. By going to bed early, these
individuals are not exposed to light in the phase delay region of the curve, resulting in per-
petuation of advanced phase. In familial adva nced sleep phase type, a shortening of the
endogenous circadian period can result in an advanced sleep phase, although circadian pe-
riod does not appear to system atically decrease with age.
Genetic and physiological. Advanced sleep phase type ha s demonstrated an autoso-
mal dominant mode of inheritance, including a PER2 gene mutation causing hypophos-
phorylation of the PER2 protein and a missense mutation in CKI.
Culture-Related Diagnostic Issues
African Americans may have a shorter circad ian period and larger magnitude phase ad-
vances to light than do Caucasians, possibly increasing the risk for development of ad-
vanced sleep phase type in this population.
Diagnostic Markers
A sleep diary and actigraphy may be used as diagnostic markers, as described earlier for
delayed sleep phase type.
Functional Consequences of Advanced Sleep Phase Type
Excessive sleepiness associated with advanced sleep phase can have a negative effect on
cognitive performance, social interaction, and safety. Use of wake-promoting agents to
combat sleepiness or sedatives for early mo rning awakening may increase potential for
substance abuse.
Differential Diagnosis
Other sleep disorders. Behavioral factors such as irre gular sleep schedules, voluntary
early awakening, and exposure to light in th e early morning should be considered, partic- | dsm5.pdf |
10c8fd79f2da-1 | early awakening, and exposure to light in th e early morning should be considered, partic-
ularly in older adults . Careful attention should be paid to rule out other sleep-wake dis-
orders, such as insomnia disorder, and other mental disorders and medical conditions that
can cause early morning awakening.
Depressive and bipolar disorders. Because early morning awaken ing, fatigue, and sleep-
iness are prominent features of major depres sive disorder, depressive and bipolar disor-
ders must also be considered.
Comorbidity
Medical conditions and mental disorders wi th the symptom of early morning awakening,
such as insomnia, can co-occur with the advance sleep phase type.
Irregular Sleep-Wake Type
Diagnostic Features
The diagnosis of irregular sleep-wake type is based primarily on a history of symptoms of
insomnia at night (during the usual sleep pe riod) and excessive sleepiness (napping) dur-
ing the day. Irregular sleep-wake type is char acterized by a lack of discernable sleep-wake | dsm5.pdf |
f0d721742ed4-0 | Circadian Rhythm Sleep-Wake Disorders 395
circadian rhythm. There is no major sleep period, and sleep is fragmented into at least
three periods during the 24-hour day.
Associated Features Supporting Diagnosis
Individuals with irregular slee p-wake type typically present with insomnia or excessive
sleepiness, depending on the time of day. Sleep and wake periods across 24 hours are frag-
mented, although the longest sleep period tends to occur between 2:00 A.M. and 6:00 A.M.
and is usually less than 4 hours. A history of isolation or reclusion may occur in association
with the disorder and contribute to the symptoms via a lack of external stimuli to help en-
train a normal pattern. Individuals or their ca regivers report frequent naps throughout the
day. Irregular sleep-wake type is most comm only associated with neurodegenerative dis-
orders, such as major neurocognitive disorder, and many neurodevelopmental disorders
in children.
Prevalence
Prevalence of irregular sleep-wake type in the general population is unknown.
Development and Course
The course of irregular sleep-wak e type is persistent. Age at onset is variable, but the dis-
order is more common in older adults.
Risk and Prognostic Factors
Temperamental. Neurodegenerative disorders, such as Alzheimer’s disease, Parkinson’s
disease, and Huntington’s disease, and neur odevelopmental disorders in children in-
crease the risk for irregular sleep-wake type.
Environmental. Decreased exposure to environmenta l light and structured daytime ac-
tivity can be associated with a low-amplitud e circadian rhythm. Hospitalized individuals
are especially prone to such weak external en training stimuli, and even outside the hospi- | dsm5.pdf |
f0d721742ed4-1 | are especially prone to such weak external en training stimuli, and even outside the hospi-
tal setting, individuals with major neurocogni tive disorder (i.e., dementia) are exposed to
significantly less bright light.
Diagnostic Markers
A detailed sleep history and a sleep diary (by a caregiver) or actigraphy help confirm the
irregular sleep-wake pattern.
Functional Consequences of
Irregular Sleep-Wake Type
Lack of a clearly discernible major sleep and wake period in irregular sleep-wake type re-
sults in insomnia or excessive sleepiness, depending on the time of day. Disruption of the
caregiver’s sleep also often occurs and is an important consideration.
Differential Diagnosis
Normative variations in sleep. Irregular sleep-wake type sh ould be distinguished from
a voluntary irregular sleep-wake schedule and po or sleep hygiene, which can result in in-
somnia and excessive sleepiness.
Other medical conditions and mental disorders. Other causes of insomnia and daytime
sleepiness, including comorbid medical condit ions and mental disorders or medication,
should be considered. | dsm5.pdf |
061d56cffb46-0 | 396 Sleep-Wake Disorders
Comorbidity
Irregular sleep-wake type is often comorbid with neurodegenerat ive and neurodevelop-
mental disorders, such as major neurocognitive disorder, inte llectual disability (intellec-
tual developmental disorder), and traumatic br ain injury. It is also comorbid with other
medical conditions and mental disorders in wh ich there is social isolation and/or lack of
light and structured activities.
Non-24-Hour Sleep-Wake Type
Diagnostic Features
The diagnosis of non-24-hour sleep-wake type is based primarily on a history of symp-
toms of insomnia or excessive sleepiness related to abnormal synchronization between the
24-hour light-dark cycle and the endogenous circadian rhythm. Individuals typically pre-
sent with periods of insomnia, excessive sleepiness, or both, which alternate with short
asymptomatic periods. Starting with the asymptomatic period, when the individual’s
sleep phase is aligned to the external envi ronment, sleep latency will gradually increase
and the individual will complain of sleep-onset insomnia. As the sleep phase continues to
drift so that sleep time is no w in the daytime, the individu al will have trouble staying
awake during the day and will complain of sleepiness. Because the circadian period is not
aligned to the external 24-hour environment, symptoms will depend on when an individ-
ual tries to sleep in relation to the circadian rhythm of sleep propensity.
Associated Features Supporting Diagnosis
Non-24-hour sleep-wake type is most common among blind or visually impaired individ-
uals who have decreased light perception. In si ghted individuals, there is often a history of
delayed sleep phase and of decreased exposure to light and structured social and physical
activity. Sighted individuals with non-24-h our sleep-wake type also demonstrate in- | dsm5.pdf |
061d56cffb46-1 | activity. Sighted individuals with non-24-h our sleep-wake type also demonstrate in-
creased sleep duration.
Prevalence
Prevalence of non-24-hour sleep-wake type in the general population is unclear, but the
disorder appears rare in sighte d individuals. The prevalence in blind individuals is esti-
mated to be 50%.
Development and Course
Course of non-24-hour sleep-wake type is per sistent, with intermittent remission and ex-
acerbations due to changes in work and social schedules throughout the lifespan. Age at
onset is variable, depending on the onset of visual impairment. In sighted individuals, be-
cause of the overlap with delayed sleep phase type, non-24-hour sleep-wake type may de-
velop in adolescence or early adulthood. Remi ssion and relapse of symptoms in blind and
sighted individuals largely depend on adhere nce to treatments designed to control sleep
and wake structure and light exposure.
Clinical expression may vary across the lif espan depending on social, school, and work
obligations. In adolescents and adults, irre gular sleep-wake schedules and exposure to
light or lack of light at critical times of the day can exacerbate the effects of sleep loss and
disrupt circadian entrainment. Consequently , symptoms of insomnia, daytime sleepiness,
and school, professional, and interpersonal functioning may worsen.
Risk and Prognostic Factors
Environmental. In sighted individuals, decreased expo sure or sensitivit y to light and so-
cial and physical activity cues may contribute to a free-running circadian rhythm. With the | dsm5.pdf |
df4e06b31af4-0 | Circadian Rhythm Sleep-Wake Disorders 397
high frequency of mental disorders involving social isol ation and cases of non-24-hour
sleep-wake type developing after a change in sl eep habits (e.g., night shift work, job loss),
behavioral factors in combination with physi ological tendency may precipitate and per-
petuate this disorder in sighte d individuals. Hospitalized indi viduals with neurological and
psychiatric disorders can become insensitive to social cues, predisposing them to the de-
velopment of non-24-hour sleep-wake type.
Genetic and physiological. Blindness is a risk factor for non-24-hour sleep-wake type.
Non-24-hour sleep-wake type has been as sociated with traumatic brain injury.
Diagnostic Markers
Diagnosis is confirmed by history and sleep di ary or actigraphy for an extended period.
Sequential measurement of phase markers (e.g ., melatonin) can help determine circadian
phase in both sighted and blind individuals.
Functional Consequences of
Non-24-Hour Sleep-Wake Type
Complaints of insomnia (sleep onset and sleep maintenance), excessive sleepiness, or both
are prominent. The unpredictability of sleep an d wake times (typically a daily delay drift)
results in an inability to attend school or maintain a steady job and may increase potential
for social isolation.
Differential Diagnosis
Circadian rhythm sleep-wake disorders. In sighted individuals, non-24-hour sleep-wake
type should be differentiated from delayed sl eep phase type, as individuals with delayed
sleep phase type may display a similar progressive delay in sleep period for several days.
Depressive disorders. Depressive symptoms and depressive disorders may result in
similar circadian dysregulation and symptoms.
Comorbidity | dsm5.pdf |
df4e06b31af4-1 | similar circadian dysregulation and symptoms.
Comorbidity
Blindness is often comorbid with non-24-hour sleep-wake type, as are depressive and bi-
polar disorders with social isolation.
Shift Work Type
Diagnostic Features
Diagnosis is primarily based on a history of th e individual working outside of the normal
8:00 A.M. to 6:00 P.M. daytime window (particularly at ni ght) on a regularly scheduled (i.e.,
non-overtime) basis. Symptoms of excessive sleepiness at work, and impaired sleep at
home, on a persistent basis are prominent. Pres ence of both sets of symptoms are usually
required for a diagnosis of shift work type. Ty pically, when the individual reverts to a day-
work routine, symptoms resolve. Although the etiology is slightly different, individuals
who travel across many time zones on a very frequent basis may experience effects similar
to those experienced by individuals with shift work type who work rotating shifts.
Prevalence
The prevalence of shift work ty pe is unclear, but the disorder is estimated to affect 5%–10%
of the night worker population (16%–20% of the workforce). Prevalence rises with advance-
ment into middle-age and beyond (Drake et al. 2004). | dsm5.pdf |
bb26def4e27f-0 | 398 Sleep-Wake Disorders
Development and Course
Shift work type can appear in individuals of any age but is more prevalent in individuals
older than 50 years and typically worsens with the passage of time if the disruptive work
hours persist. Although older adults may sh ow similar rates of circadian phase adjust-
ment to a change in routine as do younger adults, they appear to experience significantly
more sleep disruption as a consequence of the circadian phase shift.
Risk and Prognostic Factors
Temperamental. Predisposing factors include a morn ing-type disposition, a need for
long (i.e., more than 8 hours) sleep duration s in order to feel well rested, and strong com-
peting social and domestic needs (e.g., parents of young children). Individuals who are able
to commit to a nocturnal lifestyle, with fe w competing day-oriented demands, appear at
lower risk for shift work type.
Genetic and physiological. Because shift workers are more likely than day workers to
be obese, obstructive sleep apnea may be present and may exacerbate the symptoms.
Diagnostic Markers
A history and sleep diary or actigraphy may be useful in diagnosis, as discussed earlier for
delayed sleep phase type.
Functional Consequences of Shift Work Type
Individuals with shift work type not only ma y perform poorly at work but also appear to
be at risk for accidents both at work and on the drive home. They may also be at risk for
poor mental health (e.g., alcohol use diso rder, substance use diso rder, depression) and
physical health (e.g., gastrointestinal disorder s, cardiovascular dise ase, diabetes, cancer).
Individuals with a history of bipolar disorder are particularly vulnerable to shift work
type–related episodes of mania resulting from missed nights of sleep. Shift work type of- | dsm5.pdf |
bb26def4e27f-1 | type–related episodes of mania resulting from missed nights of sleep. Shift work type of-
ten results in interpersonal problems.
Differential Diagnosis
Normative variations in sleep with shift work. The diagnosis of shift work type, as op-
posed to the “normal” difficulties of shift wo rk, must depend to some extent on the sever-
ity of symptoms and/or level of distress experienced by the individual. Presence of shift
work type symptoms even when the individual is able to live on a da y-oriented routine for
several weeks at a time may suggest the presence of other sleep disord ers, such as sleep ap-
nea, insomnia, and narcolepsy, which should be ruled out.
Comorbidity
Shift work type has been associated with in creased alcohol use disorder, other substance
use disorders, and depression. A variety of physical health disorders (e.g., gastrointestinal
disorders, cardiovascular disease, diabetes, ca ncer) have been found to be associated with
prolonged exposure to shift work.
Relationship to Internat ional Classification of
Sleep Disorders
The International Classification of Sleep Disorders, 2nd Edition (ICSD-2), differentiates nine
circadian rhythm sleep disord ers, including jet lag type. | dsm5.pdf |
8c5bfa65374c-0 | Non–Rapid Eye Movement Sleep Arousal Disorders 399
Parasomnias
Parasomnias are disorders characterized by abnormal behavioral, experiential, or physio-
logical events occurring in association with sleep, specific sleep stages, or sleep-wake tran-
sitions. The most common parasomnia s—non–rapid eye movement (NREM) sleep
arousal disorders and rapid eye movement (REM) sleep behavi or disorder—represent ad-
mixtures of wakefulness and NREM sleep an d wakefulness and REM sleep, respectively.
These conditions serve as a reminder that sleep and wakefulness are not mutually exclu-
sive and that sleep is not necessarily a global, whole-brain phenomenon.
Non–Rapid Eye Movement
Sleep Arousal Disorders
Diagnostic Criteria
A. Recurrent episodes of incomplete awakeni ng from sleep, usually occurring during the
first third of the major sleep episode, accompanied by either one of the following:
1.Sleepwalking: Repeated episodes of rising from bed during sleep and walking
about. While sleepwalking, the individual has a blank, staring face; is relatively un-
responsive to the efforts of others to communicate with him or her; and can be
awakened only with great difficulty.
2.Sleep terrors: Recurrent episodes of abrupt terror arousals from sleep, usually be-
ginning with a panicky scream. There is intense fear and signs of autonomic
arousal, such as mydriasis, tachycardia, rapid breathing, and sweating, during
each episode. There is relative unresponsiveness to efforts of others to comfort the
individual during the episodes.
B. No or little (e.g., only a single visual scene) dream imagery is recalled.
C. Amnesia for the episodes is present. | dsm5.pdf |
8c5bfa65374c-1 | C. Amnesia for the episodes is present.
D. The episodes cause clinically significant di stress or impairment in social, occupational,
or other important areas of functioning.
E. The disturbance is not attributable to the physiological effects of a substance (e.g., a
drug of abuse, a medication).
F. Coexisting mental and medical disorders do not explain the episodes of sleepwalking
or sleep terrors.
Coding note: For ICD-9-CM, code 307.46 for all subtypes. For ICD-10-CM, code is based
on subtype.
Specify whether:
307.46 (F51.3) Sleepwalking type
Specify if:
With sleep-related eating
With sleep-related sexual behavior (sexsomnia)
307.46 (F51.4) Sleep terror type | dsm5.pdf |
a10bbcf0f82f-0 | 400 Sleep-Wake Disorders
Diagnostic Features
The essential feature of non– rapid eye movement (NREM) sleep arousal disorders is the
repeated occurrence of incomple te arousals, usually beginning during the first third of the
major sleep episode (Criterion A), that typica lly are brief, lasting 1–10 minutes, but may be
protracted, lasting up to 1 hour. The maximum duration of an event is unknown. The eyes
are typically open during these events. Many individuals exhibit both subtypes of arousals
on different occasions, which underscores the unitary underlying pathophysiology. The
subtypes reflect varying degrees of simult aneous occurrence of wakefulness and NREM
sleep, resulting in complex behaviors arising from sleep with varying degrees of conscious
awareness, motor activity, and autonomic activation.
The essential feature of sleepwalking is repeated episodes of complex motor behavior
initiated during sleep, including rising from bed and walking about (Criterion A1). Sleep-
walking episodes begin during any stage of NREM sleep, most commonly during slow-
wave sleep and therefore most often occurring during the firs t third of the night. During
episodes, the individual has reduced alertness and responsiveness, a blank stare, and rel-
ative unresponsiveness to communication with others or effo rts by others to awaken the
individual. If awakened during the episode (or on awakening the following morning), the
individual has limited recall for the episode. Af ter the episode, there may initially be a brief
period of confusion or difficult y orienting, followed by full recovery of cognitive function
and appropriate behavior.
The essential feature of sleep terrors is the repeated occurrenc e of precipitous awaken-
ings from sleep, usually beginning with a pani cky scream or cry (Criterion A2). Sleep ter- | dsm5.pdf |
a10bbcf0f82f-1 | rors usually begin during the first third of the major sleep episode and last 1–10 minutes,
but they may last considerably longer, partic ularly in children. The episodes are accom-
panied by impressive autonomic arousal and behavioral manifestations of intense fear.
During an episode, the individual is difficult to awaken or comfort. If the individual awak-
ens after the sleep terror, little or none of th e dream, or only fragmentary, single images,
are recalled. During a typical episode of sleep terrors, the individual abruptly sits up in
bed screaming or crying, with a frightened ex pression and autonomic signs of intense anx-
iety (e.g., tachycardia, rapid breathing, sweating, dilati on of the pupils). The individual
may be inconsolable and is usually unresponsive to the efforts of others to awaken or com-
fort him or her. Slee p terrors are also called “night terrors” or “pavor nocturnus.”
Associated Features Supporting Diagnosis
Sleepwalking episodes can include a wide va riety of behaviors. Episodes may begin with
confusion: the individual may simply sit up in bed, look about, or pick at the blanket or
sheet. This behavior then becomes progress ively complex. The in dividual may actually
leave the bed and walk into closets, out of th e room, and even out of buildings. Individuals
may use the bathroom, eat, talk, or engage in more complex behaviors. Running and fran-
tic attempts to escape some apparent threat can also occur. Most behaviors during sleep-
walking episodes are routine and of low complexity. However, cases of unlocking doors
and even operating machinery (driving an au tomobile) have been reported. Sleepwalking
can also include inappropriate behavior (e.g., commonly, urinating in a closet or waste- | dsm5.pdf |
a10bbcf0f82f-2 | basket). Most episodes l ast for several minutes to a half hour but may be more protracted.
Inasmuch as sleep is a state of relative analgesia, painful injuries sustained during sleep-
walking may not be appreciated until awakening after the fact.
There are two “specialized” fo rms of sleepwalking: sleep-related eating behavior and | dsm5.pdf |
d347aa735a14-0 | walking may not be appreciated until awakening after the fact.
There are two “specialized” fo rms of sleepwalking: sleep-related eating behavior and
sleep-related sexual behavior (sexsomn ia or sleep sex). Individuals with sleep-related eating
experience unwanted recurrent episodes of eating with varying degrees of amnesia, rang-
ing from no awareness to full awareness with out the ability to not eat. During these epi-
sodes, inappropriate foods may be ingested. In dividuals with sleep-re lated eating disorder
may find evidence of their eating only the next morning. In sexsomnia, varying degrees of | dsm5.pdf |
2dd3486dcb01-0 | Non–Rapid Eye Movement Sleep Arousal Disorders 401
sexual activity (e.g., masturbation, fondling, groping, sexual intercourse) occur as complex
behaviors arising from sleep wi thout conscious awareness. Th is condition is more common
in males and may result in serious interper sonal relationship problems or medicolegal
consequences.
During a typical episode of sleep terrors, th ere is often a sense of overwhelming dread,
with a compulsion to escape. Although fragmentary vivid dream images may occur, a story-
like dream sequence (as in nightmares) is not reported. Most commonly, the individual does
not awaken fully, but returns to sleep and has amnesia for the episode on awakening the next
morning. Usually only one episode will occur on any one night. Occasionally several episodes
may occur at intervals throughout the night. Th ese events rarely arise during daytime naps.
Prevalence
Isolated or infrequent NREM sleep arousal disorders are ve ry common in the general pop-
ulation. From 10% to 30% of children have had at least one episode of sleepwalking, and
2%–3% sleepwalk often. The prevalence of slee pwalking disorder, marked by repeated ep-
isodes and impairment or dist ress, is much lower, probably in the range of 1%–5%. The
prevalence of sleepwalking episodes (not sleepwalking disorder) is 1.0%–7.0% among
adults, with weekly to monthly episodes o ccurring in 0.5%–0.7%. The lifetime prevalence
of sleepwalking in adults is 29.2%, with a p ast-year prevalence of sleepwalking of 3.6%.
The prevalence of sleep terrors in the general population is unknown. The prevalence | dsm5.pdf |
2dd3486dcb01-1 | The prevalence of sleep terrors in the general population is unknown. The prevalence
of sleep terror episodes (as op posed to sleep terror disorder, in which there is recurrence
and distress or impairment) is approximately 36.9 % at 18 months of age, 19.7% at 30 months
of age, and 2.2% in adults.
Development and Course
NREM sleep arousal disorders occur most co mmonly in childhood and diminish in fre-
quency with increasing age. The onset of sl eepwalking in adults with no prior history of
sleepwalking as children should prompt a search for specific etiologies, such as obstruc-
tive sleep apnea, nocturnal seiz ures, or effect of medication.
Risk and Prognostic Factors
Environmental. Sedative use, sleep deprivation, sl eep-wake schedule disruptions, fa-
tigue, and physical or emotional stress increa se the likelihood of ep isodes. Fever and sleep
deprivation can produce an increased freq uency of NREM sleep arousal disorders.
Genetic and physiological. A family history for sleepwalking or sleep terrors may oc-
cur in up to 80% of individuals who sleepwal k. The risk for sleepwalking is further in-
creased (to as much as 60% of offspring) when both parents have a history of the disorder.
Individuals with sleep terrors frequently ha ve a positive family history of either sleep
terrors or sleepwalking, with as high as a 10-fo ld increase in the prevalence of the disorder
among first-degree biological relatives. Slee p terrors are much more common in monozy-
gotic twins as compared with dizygotic twins. The exact mode of inheritance is unknown.
Gender-Related Diagnostic Issues | dsm5.pdf |
2dd3486dcb01-2 | Gender-Related Diagnostic Issues
Violent or sexual activity during sleepwalking episodes is more likely to occur in adults.
Eating during sleepwalking epis odes is more commonly seen in females. Sleepwalking oc-
curs more often in females during childhood but more often in males during adulthood.
Older children and adults provide a more de tailed recollection of fearful images asso-
ciated with sleep terrors than do younger ch ildren, who are more likely to have complete
amnesia or report only a vague sense of fear. Among children, sleep terrors are more com-
mon in males than in females. Among adults, the sex ratio is even. | dsm5.pdf |
033995875931-0 | 402 Sleep-Wake Disorders
Diagnostic Markers
NREM sleep arousal disorders arise from an y stage of NREM sleep but most commonly
from deep NREM sleep (slow-wave sleep). They are most likely to appear in the first third
of the night and do not commonly occur duri ng daytime naps. During the episode, the
polysomnogram may be obscured with movement artifact. In the absence of such artifact,
the electroencephalogram typically shows theta or alpha frequency activity during the ep-
isode, indicating partial or incomplete arousal.
Polysomnography in conjunctio n with audiovisual monitoring can be used to document
episodes of sleepwalking. In the absence of ac tually capturing an event during a polysomno-
graphic recording, there are no polysomnogra phic features that can serve as a marker for
sleepwalking. Sleep deprivation may increase the likelihood of capturing an event. As a group,
individuals who sleepwalk show instability of de ep NREM sleep, but th e overlap in findings
with individuals who do not sleepwalk is great en ough to preclude use of this indicator in es-
tablishing a diagnosis. Unlike arousals from RE M sleep associated with nightmares, in which
there is an increase in heart rate and respiratio n prior to the arousal, the NREM sleep arousals
of sleep terrors begin precipitou sly from sleep, without anticipatory autonomic changes. The
arousals are associated with impressive autono mic activity, with doubling or tripling of
the heart rate. The pathophysiology is poorly unde rstood, but there appears to be instability in
the deeper stages of NREM sleep. Absent capturing an event during a formal sleep study,
there are no reliable polysomnographic indicators of the tendency to experience sleep terrors.
Functional Consequences of | dsm5.pdf |
033995875931-1 | Functional Consequences of
Non-REM Sleep Arousal Disorders
For the diagnosis of a NREM sl eep arousal disorder to be ma de, the individual or house-
hold members must experience clinically signi ficant distress or impairment, although pa-
rasomnia symptoms may occur occasionally in nonclinical populations and would be
subthreshold for the diagnosis. Embarrassment concerning the episodes can impair social
relationships. Social isolation or occupational difficulties ca n result. The determination of a
“disorder” depends on a number of factors, which may vary on an individual basis and
will depend on the frequency of events, potential for violence or injurious behaviors, em-
barrassment, or disruption/distr ess of other household member s. Severity determination
is best made based on the nature or consequenc e of the behaviors rather than simply on fre-
quency. Uncommonly, NREM sleep arousal disorders may result in serious injury to the
individual or to someone trying to console the individual. Inju ries to others are confined to
those in close proximity; individuals are not “sought out.” Typically, sleepwalking in both
children and adults is not associated with si gnificant mental disorders. For individuals
with sleep-related eating behaviors, unknowingly preparing or eati ng food during the
sleep period may create problems such as poor diabetes control, weight gain, injury (cuts
and burns), or consequences of eating dangerous or toxic in edibles. NREM sleep arousal
disorders may rarely result in violent or injurious behaviors with forensic implications.
Differential Diagnosis
Nightmare disorder. In contrast to individuals with NREM sleep arousal disorders, in-
dividuals with nightmar e disorder typically awaken eas ily and completely, report vivid
storylike dreams accompanying the episodes, and tend to have episodes later in the night. | dsm5.pdf |
Subsets and Splits