Circadian Rhythm Disorders

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Circadian Rhythm Disorders: Basics - Rhythm & Blues

  • Master Clock: Suprachiasmatic Nucleus (SCN) in anterior hypothalamus.
    • Receives crucial light input via Retinohypothalamic Tract (RHT).
    • Light is the most potent zeitgeber (time-giver).
  • Key Hormones & Rhythms:
    • Melatonin: From pineal gland; ↑ levels promote sleep; light suppresses its release.
    • Cortisol: From adrenal cortex; ↑ levels promote wakefulness; peaks in early morning.
    • Core Body Temperature: Follows a circadian pattern, typically lowest in early morning, rises during day.
  • Entrainment: Process of synchronizing the internal biological clock to external environmental cues, primarily the light-dark cycle.

⭐ The Suprachiasmatic Nucleus (SCN) in the anterior hypothalamus is the principal circadian pacemaker, receiving direct input from the retina via the retinohypothalamic tract.

Circadian Rhythm Regulation Pathway

Circadian Rhythm Disorders: Types - Outta Sync Squad

  • Delayed Sleep-Wake Phase Disorder (DSWPD)
    • Timing: 'Night owls'; sleep onset/offset delayed >2h.
    • Prevalence: Adolescents.
    • Associations: Genetic (hPER3, CRY1).
  • Advanced Sleep-Wake Phase Disorder (ASWPD)
    • Timing: 'Morning larks'; sleep onset/offset advanced >2h.
    • Prevalence: Older adults.
    • Associations: Genetic (hPER2, CK1δ).
  • Irregular Sleep-Wake Rhythm Disorder (ISWRD)
    • Timing: Disorganized; ≥3 sleep episodes/24h.
    • Associations: Neurodegenerative (Alzheimer's), institutionalization.
  • Non-24-Hour Sleep-Wake Rhythm Disorder (N24SWD)
    • Timing: Free-running, cycle typically >24h; progressive daily delay.
    • Prevalence: Common in totally blind individuals.
    • Associations: Lack of light entrainment.

⭐ Over 50% of totally blind individuals experience Non-24-Hour Sleep-Wake Rhythm Disorder due to lack of photic entrainment.

📌 Mnemonic: Delay All Internal Naps (DSWPD, ASWPD, ISWRD, N24SWD).

Circadian Rhythm Disorders: Extrinsic & Dx - Travel & Toil Troubles

  • Jet Lag Disorder:
    • Mismatch: internal clock vs. new time zone (rapid trans-meridian travel).
    • Symptoms: Insomnia, excessive daytime sleepiness (EDS), GI upset.
    • Eastward travel (phase advance) harder than westward (phase delay). 📌 "East is a beast, West is best".
  • Shift Work Disorder (SWD):
    • Insomnia/EDS due to work schedule conflicting with habitual sleep times.
    • Affects 10-40% of shift workers.

Circadian Rhythms and Body Functions

Diagnosis of CRSDs:

  • Clinical Interview: Detailed sleep-wake history.
  • Sleep Diaries: Subjective record for ≥2 weeks.
  • Actigraphy: Objective rest-activity patterns.

    ⭐ Actigraphy is a valuable objective tool for assessing sleep-wake patterns over several weeks in suspected CRSDs.

  • Questionnaires: E.g., Morningness-Eveningness Questionnaire (MEQ), Munich ChronoType Questionnaire (MCTQ).

Circadian Rhythm Disorders: Treatment - Timing is Everything

  • Goal: Align internal clock with desired sleep-wake cycle. Key is TIMING.
  • Light Therapy (Phototherapy):
    • 2,500-10,000 lux bright light.
    • Morning light: Advances phase (e.g., DSWPD).
    • Evening light: Delays phase (e.g., ASWPD).
  • Melatonin:
    • DSWPD: 0.5-5 mg, 1-5 hours before desired bedtime.
    • N24SWD: Daily at fixed time.
    • Jet Lag: Timed by travel direction.
  • 📌 BAM: Bright light in AM for DSWPD (Advance); Melatonin in PM.
  • Chronotherapy:
    • Progressive shift of sleep schedule (e.g., DSWPD: delay bedtime 1-3 hrs/day).
    • ⚠️ High adherence needed.
  • Behavioral: Strict sleep hygiene, scheduled sleep, meals, exercise.
  • Pharmacotherapy (Adjunctive): Hypnotics (short-term), Modafinil (Shift Work Disorder).

⭐ For Delayed Sleep-Wake Phase Disorder (DSWPD), appropriately timed evening melatonin (e.g., 0.5-1 mg, 3-5 hours before desired sleep onset) and morning bright light exposure are first-line treatments.

Light-eye-body axis and circadian rhythm

High‑Yield Points - ⚡ Biggest Takeaways

  • DSWPD ("Night owls"): Delayed sleep phase. Treat: evening melatonin, morning light.
  • ASWPD ("Morning larks"): Advanced sleep phase. Treat: morning melatonin, evening light.
  • N24SWD: Common in totally blind individuals; tasimelteon is specific.
  • Jet Lag Disorder: After travel across ≥2 time zones; melatonin at target bedtime.
  • Shift Work Disorder: Due to night/rotating shifts; modafinil for alertness.
  • ISWRD: Disorganized sleep, seen in dementia (e.g., Alzheimer's).
  • Key tools: Sleep diary, actigraphy for diagnosis; melatonin, light therapy for management_._

Practice Questions: Circadian Rhythm Disorders

Test your understanding with these related questions

A 32-year-old man comes to the physician complaining of excessive sleepiness for the past several months. He reports falling asleep while dealing with customers and had a near accident when he fell asleep while driving. The patient reports that he occasionally hears voices while falling asleep and finds himself "temporarily frozen" and unable to move upon awakening. Which of the following is the most appropriate treatment for this patient?

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Flashcards: Circadian Rhythm Disorders

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A reduction of airflow by at least 30% for 10 seconds or more is termed _____

TAP TO REVEAL ANSWER

A reduction of airflow by at least 30% for 10 seconds or more is termed _____

hypopnea

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