Sleep disturbances are a common symptom of Angelman syndrome, a complex neurological genetic disorder that affects 1 in 15,000 people worldwide. Abnormal sleep patterns — including a less-than-normal need for sleep and unusual sleep-wake cycles — can negatively affect a patient’s health and daily activities, and may lead to frustration and irritability among caregivers.
What is Angelman syndrome?
Angelman syndrome is a genetic disorder that primarily affects the nervous system, and is caused by the loss of a functioning maternal copy of the UBE3A gene situated on chromosome 15. Symptoms of Angelman syndrome include delayed physical and mental growth, coordination issues, frequent laughter, seizures, short attention spans, and sleep disturbances, among others.
How common are sleep disturbances in Angelman syndrome?
About 20% to 80% of Angelman syndrome patients are estimated to have sleep disturbances such as decreased sleep, increased sleep onset latency (taking more time to fall asleep), and abnormal sleep behaviors.
Sleep disturbances generally begin in infancy, as early as when the patient is six months old. While sleep issues usually improve with age, they can continue to persist into adulthood in some cases.
What causes sleep disturbances in Angelman syndrome?
The body has an internal clock called the circadian rhythm, which controls the sleep-wake cycles. Sleep disturbances in Angelman syndrome is thought to arise from a combination of factors — biological and psychological — that affect this internal clock.
Biological factors that contribute to sleep disturbances include poor health, seizures, synaptic dysfunction, pain due to constipation or ear infections, and changes in the secretion patterns of the sleep hormone melatonin.
Psychological factors, such as relying on parents or caregivers to fall asleep or associating the bedroom with non-sleep activities, can also contribute to sleep issues in Angelman syndrome patients.
How can sleep disturbances be managed?
- Stick to appropriate sleep times as much as possible.
- Ensure very low or no light in the bedroom.
- Give the patient a warm bath with bath salts and lotions before bedtime.
- Put the patient in enclosed environments, such as tightly fitted sheets, sleeping bags, or weighted blankets.
- Ensure that the patient wears comfortable clothing such as pajamas that prevent overheating.
What medical treatments are available?
Melatonin therapy can also help improve sleep. The dosage of melatonin varies between individuals and usually works best when administered in low-light conditions between 15 minutes and two hours before the normal sleep time. The therapy’s effectiveness also varies between individuals, but it will likely help reduce the severity of sleep disturbances in all patients.
The treatment’s developer, Ovid Therapeutics, is now recruiting patients who have taken part in the STARS trial to study the long-term safety of OV101 in a Phase 2 trial (NCT03882918) called ELARA. Results of this trial are expected to be available by September 2020.
Last updated: Sept. 24, 2019
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