Huong Pham, MD

Sleep and Sleep Disorders Outline

The purpose of this lecture and presentation is to expose you to the basics of Sleep Medicine. Per the
USMLE content outline, you should focus on normal sleep, changes with age, neuroanatomy of sleep,
and the sleep disorders listed below. You should be familiar with performing a sleep-focused history and
physical exam that I hope will be helpful to you on your clinical rotations and in your future practice.

I. Prevalence
a. Adults: 30-75% and continues to increase; 71% of adults sleep less than 7 hours a night
b. Children: 76% of parents reported sleep issues in their children; children sleep up to 90
min less than expected
II. Importance of Sleep
a. Function
i. Decreased caloric use
ii. Reserve brain energy
iii. Glymphatic
iv. Immune function
v. Restores cognitive function
vi. Plasticity
b. Sleep deprivation consequences
i. Adults
1. Increased obesity/weight gain, diabetes, hypertension, coronary heart
disease, stroke, cancers (breast, CRC, prostate), mortality, decreased
immunity.
2. Increased depression and pain
3. Impaired performance, increased errors and accidents
ii. Children:
1. Similar metabolic and vascular risk factors
2. Decreased attention, learning, memory, emotional regulation, quality
of life
3. Increased behavioral issues, depression, self-harm, suicidal ideation
and attempts
4. Increased accidents and injuries
III. Normal Sleep
a. Recommended duration
i. Adults: 7-9 hours
 ii. Children: table below includes nocturnal sleep and daytime naps

b. Sleep stages

i.

c. Changes with age

i. Stages: in general, with age, there is decrease in total sleep time, wake time
after sleep onset, and N3.
1. Infancy and childhood: Increased N3 and REM sleep.
2. Adolescence: N3 starts to decrease.
3. Adulthood: Further decrease in N3, some patients will have none.
4. Elderly: Increase in N1, N2 sleep, greater increase in wake time after
sleep onset, increased sleep onset latency, and increased frequency
and duration of nocturnal awakenings.
ii. Cycles
1. Adults: every 90 min
2. Infants (<1 yo): every 50 min
IV. Neurophysiology of sleep
a. Brain regions
i. Wake and sleep
1. Forebrain: NREM (VLPO) and wake
2. Upper midbrain and mid-pontine region: part of ascending arousal
system/reticular formation, facilitates wake
 3. Pons: REM
4. Thalamus: different regions may promote wake- or sleep-like states
5. Lower brainstem: can generate rudimentary behavioral waking,
NREM, and REM-like states.
ii. Circadian rhythm:
1. SCN: Light  retina  SCN  stimulates arousal networks
2. Pineal gland  melatonin
b. Neurotransmitters

V. Physiologic Changes with sleep

a. Cardiovascular: fluctuations in heart rhythm, BP, coronary artery blood flow
b. Respiratory: changes in ventilator response and muscle activation and
voluntary/behavioral signals
c. Endocrine
i. Controlled by sleep homeostasis (S) and circadian rhythm (C) and modulated by
behavior and/or environment and affects multiple organ systems and functions
d. Appetite
i. Ghrelin (hunger) increases with sleep deprivation
ii. Leptin (satiety) decreases with sleep deprivation
VI. Evaluation
a. History
i. Witness
ii. Chief sleep complaints:
Onset/course
Precipitating/predisposing factors
Duration
Frequency
Severity
Timing during the sleep period
iii. Sleep Habits:
Bedtime on weekdays
Bedtime on weekends
Wake time on weekdays
Wake time on weekends:
Time it takes to fall asleep/activities during trying to sleep
Awakenings during the night/frequency/cause
Time it takes to fall back asleep/activities
iv. Respiratory
Loudness of snoring
Witnessed apneas
Choking or gasping
Arousals
v. Sleep-Related Movements:
Periodic leg movements
Restless legs symptoms
vi. Parasomnia:
Sleepwalking
Sleeptalking
Dream-Enacting Behavior
Bruxism
vii. GU Systems:
Nocturia
Impaired sexual functioning
viii. Narcoleptic Symptoms:
Cataplexy
Hallucinations
Sleep paralysis
Automatic behaviors
ix. Morning Symptoms:
Dry mouth
Refreshed
 Morning headaches
Nasal congestion
x. Daytime Functioning:
Sleepiness and ESS (normal < 10)
Falling asleep while driving
Any accidents caused by sleepiness
Memory problem
Difficulty concentrating
Fatigue: no
Irritability: no
Trouble at with work/school
Naps
xi. Pediatrics
Own bed/bedroom
Child resist going to bed
Difficult to wake
Head banging/rocking
School performance
Hyperactivity
xii. Sleep diary
xiii. Comorbid medical and psychiatric conditions
xiv. Family history of sleep disorders
xv. Substance use
xvi. Stressors
xvii. Medications
b. Exam
i. Facial structure
ii. Nasal passage patency
iii. Neck circumference
iv. Oropharyngeal exam
c. Diagnostic testing
i. Polysomonogram
ii. Mean sleep latency test
iii. Actigraphy
VII. Sleep Disorders
a. Insomnia
i. Difficulty with sleep initiation, maintenance, early awakening, nonrestorative
sleep
ii. Resistance to going to bed on appropriate schedule, difficulty sleeping without
parent/caregiver intervention
iii. Despite adequate time and opportunity for sleep
iv. Results in daytime impairment
v. Increased risk in women, older age (>65 yo), and comorbid psychiatric disorders
vi. Types
1. Short < 3 months
2. Chronic > 3 months at least 3/week
3. Other
vii. Causes
1. Psychophysiological
2. Idiopathic, paradoxical
3. Inadequate sleep hygiene
4. Behavioral insomnia of childhood
5. Secondary to medical condition
6. Drug/substance
viii. Treatment
1. Sleep hygiene
2. Cognitive behavioral therapy*
3. Medications
a. Melatonin
b. Hypnotic medications
c. Non-benzodiazepine hypnotics
Less potential for abuse, tolerance, withdrawal
d. Melatonin-receptor agonists
e. Low-dose antidepressants
With comorbid depression
f. Anticonvulsants
g. OTC sleep aids, anti-histamines
b. OSA
i. Symptoms
1. Sleepiness, nonrestorative sleep, insomnia symptoms
2. Respiratory symptoms during sleep including snoring, gasping,
choking, apneas
3. Due to partial or incomplete airway obstruction leading to arousals
ii. Cause
1. Increased risk with obesity/large neck circumference, medical
conditions, family history, medications
 iii. Diagnosis by PSG
iv. Treatment
1. Adult
a. CPAP, BiPAP
b. Oral appliance
c. Nasal expiratory positive airway pressure
d. Surgical intervention
e. Conservative measures
i. Weight loss
ii. Positional therapy
2. Children
a. Tonsillectomy and adenoidectomy
b. Other surgical interventions
c. Rapid maxillary expander
d. PAP
e. Conservative measures
c. Central Sleep Apnea
i. Symptoms: similar to OSA
ii. Cause
1. Absent respiratory drive and change in CO2 response
2. Associated with atrial fibrillation, congestive heart failure,
neurological disorder, renal failure
3. In children, must consider Chiari malformation
iii. Diagnosis by PSG
iv. Treatment: underlying cause, PAP
d. Movement Disorders
i. RLS
1. URGE symptoms for diagnosis
2. Higher prevalence in older adults and women
3. 50% with strong family history
4. Higher prevalence in older adults and women
5. 50% with strong family history
6. Associated with low ferritin, neuropathy
7. Diagnosis by clinical history/URGE criteria
8. Evaluate with iron, ferritin, TIBC levels and examine for underlying
neuropathy
9. Treatment
a. Iron supplementation if low
b. Dopamine agonists
i. Risk for augmentation
c. Anticonvulsants
 d. Opioids
e. Benzodiazepines
ii. PLMS
1. Diagnosed by PSG
a. Adults: PLMI > 15
b. Children: PLMI > 5
2. May be due to underlying sleep disorder, medications
3. PLM disorder (PLMD) is not common
e. Parasomnias
i. Abnormal sleep-related movements, behaviors, emotions, perceptions,
dreaming, and automatic nervous system functioning and are disorders of
incomplete arousals from deep sleep
ii. NREM
1. Confusional arousal
2. Sleepwalking
3. Sleep terrors
a. Onset 4-12 years
b. Strong family history
c. Sleep deprivation is major trigger
d. Cry/scream, autonomic system and behavioral manifestations
of intense fear, difficult to console
4. Treatment
a. Safety
b. Sufficient sleep
c. Can consider benzodiazepines
d. Scheduled awakenings
iii. REM
1. Nightmare disorder
a. Onset 3-6 years
b. Occur during the second half of the night out of REM sleep
c. Has memory of event and dream
d. Consolable
e. Treatment includes reassurance and CBT
2. REM- sleep behavior disorder
a. Common in men > 50 yo
b. Abnormal loss of inhibited muscle tone during REM sleep
c. Acting out of dreams
d. Can involve screaming, punching, and kicking
e. Vivid dreams
f. In older patients, may precede underlying neurodegenerative
disorder (alpha synucleuopathies) and in younger patients,
narcolepsy
 g. Treatment
i. Safe environment
ii. Clonazepam
iii. Melatonin
f. Central Disorders of Hypersomnelence
i. Narcolepsy
1. Typically diagnosed < 25 yo
2. Due to autoimmune loss of neurons that create hypocretin/orexin
3. Modulates and increase muscle tone during wake
4. Decrease CSF hypocretin-1 levels (in type 1)
5. Positive HLA DQ1B*0602
6. Excessive daytime sleepiness daily for three months
7. Associated with sleep paralysis, hypnagogic/hypnopompic
hallucinations, automatic behavior, fragmented sleep
8. Naps are refreshing
9. Cataplexy: sudden and transient episode of muscle tone loss triggered
by emotion (laughing, anger)
10. Type 1- with cataplexy
11. Type 2- without cataplexy
ii. Idiopathic hypersomnia
1. Excessive daytime sleepiness daily for three months
2. Naps are not refreshing
3. Usually chronic course
4. Associated with autonomic dysfunction
iii. Diagnosis- MSLT
1. Narcolepsy
a. Short mean sleep onset latency (<8 min) and at least 2 sleep
onset REM periods
2. Idiopathic hypersomnia
a. Short mean sleep onset latency (<8 min) with <2 sleep onset
REM periods
iv. Treatment
1. Conservative
a. Sleep hygiene
b. Ensure sufficient sleep
c. Schedule naps
2. Medications
a. Alerting medications
i. Amphetamines and methylphenidate
ii. Modafinil, armodafinil
b. For cataplexy
i. Sodium oxybate
 ii. Selegiline
iii. Antidepressants
g. Circadian Rhythm disorders: Sleep disturbances due to misalignment between internal
circadian rhythm and environment
i. Types
1. Delayed sleep phase
a. Most common
b. Late sleep and wake times
i. Major cause of insomnia in adolescents
ii. Delay in melatonin secretion, changes in core body
temperature, and sleep/wake cycle
iii. May cause absence or tardiness in school, falling asleep
in class
iv. Diagnose by history, sleep diary, and/or actigraphy
v.
c. Treatment
i. Sleep hygiene
ii. Light therapy in the morning
iii. Chronotherapy (delaying sleep/wake until reach
conventional schedule)
iv. Melatonin
2. Advanced sleep phase
a. Elderly
b. Earlier than desired sleep onset and awakening
3. Jet lag
a. Rapid change in time zones
4. Shift work disorder