Familial advanced sleep phase syndrome

Familial Advanced Sleep Phase Syndrome

Familial Advanced Sleep Phase Syndrome (FASPS) is a rare circadian rhythm sleep disorder characterized by a significantly advanced sleep-wake cycle. Individuals with FASPS tend to fall asleep and wake up much earlier than the general population. This condition is hereditary and is often linked to genetic mutations.

Symptoms

Individuals with FASPS typically experience the following symptoms:

• Advanced sleep onset: Falling asleep in the early evening, often between 6 PM and 9 PM.
• Early morning awakening: Waking up very early in the morning, usually between 2 AM and 5 AM.
• Normal sleep duration: Despite the shifted schedule, the total duration of sleep is usually normal.
• Daytime functioning: Individuals may feel well-rested and function normally during the day, although social and occupational activities may be affected due to the unusual sleep schedule.

Causes

FASPS is primarily caused by genetic mutations that affect the body's internal clock, or circadian rhythm. The most well-known genetic mutation associated with FASPS occurs in the PER2 gene, which plays a crucial role in regulating circadian rhythms. Mutations in the CSNK1D gene have also been implicated.

Diagnosis

Diagnosis of FASPS involves a combination of:

• Sleep history: Detailed documentation of sleep patterns over several weeks.
• Actigraphy: Use of a wrist-worn device to monitor sleep-wake cycles.
• Genetic Testing: Identification of mutations in genes associated with circadian rhythm regulation.
• Polysomnography: Overnight sleep study to rule out other sleep disorders.

Treatment

There is no cure for FASPS, but treatment options focus on managing symptoms and improving quality of life:

• Chronotherapy: Gradually delaying sleep time to align with a more conventional schedule.
• Light therapy: Exposure to bright light in the evening to help delay sleep onset.
• Melatonin: Use of melatonin supplements to adjust the sleep-wake cycle.
• Behavioral therapy: Cognitive-behavioral strategies to cope with the social and occupational impacts of FASPS.

Prognosis

FASPS is a lifelong condition, but with appropriate management, individuals can lead normal, healthy lives. The main challenge is aligning personal and professional activities with the advanced sleep schedule.

Research

Ongoing research aims to better understand the genetic basis of FASPS and develop more effective treatments. Studies are exploring the role of other genes in circadian rhythm regulation and the potential for pharmacological interventions.

See Also

• Circadian Rhythm Sleep Disorders
• Delayed Sleep Phase Disorder
• Non-24-Hour Sleep-Wake Disorder