I now have comprehensive material from Kaplan & Sadock's Synopsis of Psychiatry. Let me compile the full 10-mark MD exam answer.
Sleep-Wake Disorders - MD Examination Answer (10 Marks)
INTRODUCTION
Sleep-wake disorders are a group of conditions characterized by disturbances in the quantity, quality, timing, or architecture of sleep, resulting in significant distress or functional impairment. Sleep has three essential characteristics: (1) it is required for proper brain function - its failure impairs cognition and mood regulation; (2) it is not a single process - multiple distinct sleep types exist, each with unique functional importance; (3) it is not passive - high-degree brain activation and metabolism occur during sleep. Sleep disorders carry a direct cost of ~$16 billion annually in the US, with indirect costs exceeding $100 billion.
NORMAL SLEEP PHYSIOLOGY
Sleep is divided into NREM and REM stages. The table below summarizes electrophysiologic criteria:
| Stage | EEG | EOG | EMG |
|---|
| Wakefulness | Low-voltage mixed frequency; alpha (8-13 cps) with eyes closed | Eye movements, blinks | High tonic activity |
| Stage 1 (NREM) | Low-voltage, theta (3-7 cps), vertex sharp waves | Slow eye movements | Slightly decreased tonic activity |
| Stage 2 (NREM) | Sleep spindles (12-14 cps), K-complexes | None | Low tonic activity |
| Stage 3 (NREM) | High-amplitude (>=75 microV) slow waves, 20-50% of epoch | None | Low tonic activity |
| Stage 4 (NREM) | High-amplitude slow waves >50% of epoch | None | Low tonic activity |
| REM sleep | Low-voltage mixed frequency; sawtooth waves | Rapid eye movements | Tonic atonia with phasic twitches |
A normal sleep cycle lasts ~90 minutes, with 4-6 cycles per night. Deep NREM (stages 3 and 4 = slow-wave sleep) predominates early in the night; REM periods lengthen toward morning.
CLASSIFICATION (DSM-5 / ICSD-3)
DSM-5 classifies sleep-wake disorders into:
- Insomnia Disorder
- Hypersomnolence Disorder
- Narcolepsy
- Sleep-Related Breathing Disorders (Obstructive Sleep Apnea, Central Sleep Apnea, Sleep-Related Hypoventilation)
- Circadian Rhythm Sleep-Wake Disorders
- Parasomnias (NREM-related and REM-related)
- Sleep-Related Movement Disorders
I. INSOMNIA DISORDER
Definition: Difficulty initiating sleep, maintaining sleep, or early morning awakening with inability to return to sleep - sufficient to impair daytime functioning.
Subtypes:
- Psychophysiologic insomnia - conditioned arousal; patient "tries too hard" to sleep
- Paradoxical insomnia - sleep-state misperception; patient overestimates wake time
- Idiopathic insomnia - lifelong; begins in childhood
- Insomnia due to mental disorder - most common type; 35% have a psychiatric diagnosis (MDD most frequent)
- Inadequate sleep hygiene - behaviors not conducive to good sleep (caffeine, irregular schedules, daytime napping)
- Behavioral insomnia of childhood - depends on specific stimulation for sleep initiation
- Insomnia comorbid with medical condition - pain (synergy between pain and sleep loss), GERD, COPD, neurodegenerative disorders
- Insomnia due to drug/substance - SSRIs, antiparkinsonian drugs, stimulants, rebound insomnia from alcohol/sedatives
Key point: Insomnia is an independent risk factor for suicide in MDD. In bipolar disorder, sleep deprivation can precipitate mania.
Treatment:
- Pharmacologic: Benzodiazepines (short-term), non-benzodiazepine BzRA (zolpidem, zaleplon, eszopiclone), melatonin receptor agonist (ramelteon), orexin antagonist (suvorexant), low-dose doxepin. Eszopiclone, zolpidem-MR, and ramelteon are FDA-approved for long-term use.
- Non-pharmacologic (first-line): Cognitive Behavioral Therapy for Insomnia (CBT-I) - includes stimulus control, sleep restriction, relaxation techniques (progressive muscle relaxation, abdominal breathing, guided imagery, biofeedback), sleep hygiene education, and cognitive therapy.
- AASM recommends: suvorexant, eszopiclone, zaleplon, zolpidem, triazolam, temazepam, ramelteon, doxepin. Recommends against trazodone, diphenhydramine, melatonin, valerian.
II. HYPERSOMNOLENCE DISORDER
Definition: Excessive sleepiness (hypersomnia) not due to disrupted sleep or circadian dysfunction; likely results from fundamental neurologic sleep-regulation dysfunction.
Features: Daytime drowsiness, reduced attention, prolonged night sleep, difficulty waking. Serious, potentially life-threatening (driving accidents).
Treatment: CNS stimulants (modafinil, methylphenidate); good sleep hygiene; scheduled naps.
III. NARCOLEPSY
Core tetrad:
- Excessive daytime sleepiness (EDS) - overwhelming, irresistible sleep attacks
- Cataplexy - sudden loss of bilateral muscle tone with maintained consciousness, precipitated by strong emotions (especially laughter). Ranges from knee buckling to total paralysis lasting seconds to minutes.
- Hypnagogic/hypnopompic hallucinations - vivid hallucinations at sleep onset or awakening
- Sleep paralysis - transient inability to move at sleep onset or awakening
Types:
- Type 1 (with cataplexy): Low or absent CSF hypocretin-1 (orexin); HLA-DQB1*06:02 strongly associated; likely autoimmune destruction of orexin neurons in hypothalamus
- Type 2 (without cataplexy): Normal CSF hypocretin; less association with HLA
Diagnosis: Multiple Sleep Latency Test (MSLT) - mean sleep latency <8 minutes with >=2 sleep-onset REM periods (SOREMPs). Polysomnography done night before to rule out other causes.
Differential: Cataplexy confused with seizures or neurologic movement disorders. Disorders causing secondary cataplexy: hypothalamic tumors, sarcoidosis, multiple sclerosis, Niemann-Pick type C, paraneoplastic syndrome.
Treatment:
- EDS: Sodium oxybate (most effective), modafinil/armodafinil (first-line), methylphenidate, amphetamines, pitolisant
- Cataplexy: Sodium oxybate, venlafaxine, clomipramine, fluoxetine (REM-suppressants)
- Sleep paralysis and hallucinations: Sodium oxybate, REM-suppressants
IV. SLEEP-RELATED BREATHING DISORDERS
A. Obstructive Sleep Apnea (OSA)
Repeated upper airway collapse during sleep causing apnea/hypopnea episodes >=10 seconds, oxygen desaturation, arousals.
Polysomnographic features: Cessation of oral/nasal airflow while abdominal/chest effort continues; oxygen desaturation; bradycardia, arrhythmias (PVCs); EEG arousal ("breakthrough"). Diagnosed by Apnea-Hypopnea Index (AHI): mild 5-15, moderate 15-30, severe >30 events/hour.
Treatment: Weight loss, CPAP (gold standard), dental appliance, surgery (uvulopalatopharyngoplasty). Comorbidities: hypertension, heart failure, stroke, diabetes, depression.
B. Central Sleep Apnea
Lack of respiratory effort (no chest/abdominal movement). Associated with heart failure, opioids, high altitude, brainstem lesions.
C. Sleep-Related Hypoventilation
Subtypes include Obesity Hypoventilation Syndrome, Congenital Central Alveolar Hypoventilation, Idiopathic Central Alveolar Hypoventilation.
V. CIRCADIAN RHYTHM SLEEP-WAKE DISORDERS
Pathophysiology: Misalignment between the endogenous circadian clock (suprachiasmatic nucleus, SCN) and the desired/conventional sleep-wake schedule. SCN fires with ~24-hour period; normally re-entrained by bright light, social cues, activity, stimulants.
Types (DSM-5):
| Type | Feature |
|---|
| Delayed Sleep-Wake Phase | Sleep onset and wake times are delayed (night owls); common in adolescents |
| Advanced Sleep-Wake Phase | Sleep onset and wake times are earlier (familial form known); common in elderly |
| Irregular Sleep-Wake Rhythm | Disorganized, fragmented sleep pattern; associated with neurodegenerative disorders |
| Non-24-hour Sleep-Wake Rhythm | Progressive daily drift to later sleep onset; most common in blind individuals |
| Shift Work Disorder | Misalignment due to occupational schedule; associated with cardiovascular disease, GI disease, psychiatric disorders |
| Jet Lag Disorder | Transient; due to rapid time-zone crossing (ICSD includes; DSM-5 does not) |
Treatment: Light therapy (properly timed), melatonin, chronotherapy (progressive delay of sleep time), modafinil (for shift work). Duration criteria: >=3 months (except jet lag).
VI. PARASOMNIAS
Undesirable physical events or experiences during entry into, during, or on arousal from sleep.
A. NREM-Related Parasomnias (arise from Slow-Wave Sleep)
1. Sleepwalking (Somnambulism)
- Complex motor behavior during sleep with absent consciousness; patient may leave bed, walk around, perform activities
- Occurs in first third of night from stages 3-4 NREM
- Amnesia for episode; no purposeful action
- Precipitated by: sleep deprivation, fever, CNS depressant withdrawal, stress
- Treatment: Safety measures (lock doors/windows), low-dose benzodiazepines if frequent/dangerous
2. Sleep Terrors (Pavor Nocturnus)
- Sudden arousal with intense fear, piercing scream, autonomic activation (tachycardia, diaphoresis)
- Patient is unresponsive, confused; amnesia for episode
- Unlike nightmares, few or no recalled dream images
- Arise from slow-wave sleep; associated with psychiatric comorbidity in adults (trauma, PTSD)
3. Confusional Arousals
- Milder form; partial awakening from NREM; patient is confused but returns to sleep; common in young children
- These three (confusional arousals, sleepwalking, sleep terrors) lie on a continuum
4. Sleep-Related Eating Disorder
- Classified as "sleepwalking with sleep-related eating" in DSM-5
- Recurrent episodes of eating while partially asleep; may consume unusual foods; unaware; weight gain; hazardous food preparation
B. REM-Related Parasomnias (arise from REM Sleep)
1. Nightmare Disorder
- Frightening, elaborate dreams from REM sleep; full recall on awakening (unlike sleep terrors)
- Common in children ages 3-6; can persist after trauma (PTSD-related nightmares may be literal replays)
- Medications causing nightmares: L-DOPA, beta-blockers; REM-rebound after REM-suppressant withdrawal
2. REM Sleep Behavior Disorder (RBD)
- Loss of normal REM atonia; patient "acts out" vivid dreams; complex, often violent motor behavior
- Strong association with neurodegenerative disorders (Parkinson disease, Lewy body dementia, MSA) - may precede neurodegeneration by decades
- Treatment: Clonazepam, melatonin; safety precautions
3. Recurrent Isolated Sleep Paralysis
- Transient inability to perform voluntary movements at sleep onset or awakening; full consciousness maintained; lasts seconds to minutes; may be accompanied by hypnagogic hallucinations
VII. SLEEP-RELATED MOVEMENT DISORDERS
1. Restless Legs Syndrome (RLS / Willis-Ekbom Disease)
- Uncomfortable, irresistible urge to move the legs, worse at rest, in the evening/night, relieved by movement
- Four essential criteria: urge to move, worsened at rest, worsened in evening, relieved by movement
- Associated with iron deficiency (check serum ferritin), pregnancy, renal disease, peripheral neuropathy, folate deficiency
- Treatment: Dopamine agonists (pramipexole, ropinirole) - first-line; iron supplementation if low ferritin; gabapentin/pregabalin; benzodiazepines
2. Periodic Limb Movement Disorder (PLMD)
- Previously nocturnal myoclonus; brief stereotypic repetitive leg movements in NREM sleep
- Extension of big toe; partial flexion of ankle, knee, hip; duration 0.5-5 sec; occur every 20-40 sec
- Associated with aging, folate deficiency, renal disease, anemia, antidepressant use
- Treatment: Dopamine agonists; benzodiazepines
3. Sleep-Related Bruxism
- Grinding/clenching teeth during sleep; dental wear, jaw pain, headache; occurs during any sleep stage, most common in stage 2 and REM
- Worsened by stress; occurs secondary to sleep-related breathing disorders, psychostimulants, SSRIs
- Treatment: Occlusal splints (dental guards); relaxation; treat underlying OSA if present
4. Sleep-Related Leg Cramps
- Painful calf muscle contractions during sleep; associated with metabolic disorders, electrolyte imbalances, diabetes, pregnancy
INVESTIGATIONS
Polysomnography (PSG) indications:
- Diagnosis of sleep-related breathing disorders
- PAP titration and treatment assessment
- Sleep-related violent behaviors
- Differentiating narcolepsy from other hypersomnolence disorders
- Differentiating parasomnias from nocturnal seizures
- Atypical parasomnias; neuromuscular disorders; PLMD
Multiple Sleep Latency Test (MSLT): Next-day after PSG; mean sleep latency <8 min; SOREMPs >=2 diagnostic of narcolepsy.
Actigraphy: Wrist-worn accelerometry; useful for circadian rhythm disorders; monitors sleep-wake patterns over 1-2 weeks.
SUMMARY TABLE: KEY COMPARISONS
| Feature | Sleep Terrors | Nightmares | RBD |
|---|
| Sleep stage | NREM (stages 3-4) | REM | REM |
| Time of night | First third | Last third | Last third |
| Memory recall | None (amnesia) | Full recall | Variable |
| Motor activity | Partial (sits up, screams) | Minimal | Complex, violent |
| Autonomic arousal | Intense | Moderate | Present |
| Association | Trauma, stress | PTSD, L-DOPA, beta-blockers | Parkinsonism, Lewy body disease |
CONCLUSION
Sleep-wake disorders represent a broad spectrum from primary disorders of sleep initiation/maintenance (insomnia), excessive sleepiness (narcolepsy, hypersomnia), abnormal behaviors during sleep (parasomnias), to movement disorders emerging from sleep. Their proper diagnosis requires understanding of sleep architecture, targeted history-taking (including bed partner's observations), and investigations such as polysomnography and MSLT. Treatment is disorder-specific, ranging from CBT-I and CPAP for insomnia and OSA respectively, to dopamine agonists for RLS and sodium oxybate for narcolepsy.
Source: Kaplan and Sadock's Synopsis of Psychiatry, 12th Edition (DSM-5 aligned); sleep stage classification from Rechtschaffen & Kales criteria.