Raising children in an age of ever-increasing information sharing, deriving from both academic and social media sources, can result in overlooking narcolepsy as just the by-product of “too much data” and “not enough sleep” but a closer look may be warranted.
Narcolepsy is a medical sleep condition that affects approximately 1 in 2,000 individuals with most patients presenting during early childhood or their teenage years. Narcolepsy is characterized by irregular sleep-wake cycles and can evolve over several years, sometimes complicating its diagnosis until symptoms have become more established. It is a lifelong condition that can impact your relationship with friends and family and although narcolepsy does not influence intelligence, it can affect memory and learning. In some teenage patients, its symptoms can be so severe as to interfere one’s ability to obtain a driver’s license.
Narcolepsy is caused by a loss of cells in the central nervous system that produce a sleep hormone called hypocretin. While the reason for the loss of these cells is unknown, it is suspected to be at least in part due to an autoimmune process. There are certain genetic markers that can help determine if a patient truly has this condition. However, not having one of these markers does not rule out narcolepsy completely nor does being positive for one of these markers mean you will definitively develop the condition.
Patients present universally with hypersomnia, also called excessive daytime sleepiness (EDS). This is more than simply a feeling of fatigue. Patients will often report an overwhelming urge to sleep when sitting down, reading, or watching television. EDS occurs despite adequate overnight sleep, making the tiredness during the day unusual. Narcoleptic patients also report sleep attacks, which are sudden urges to sleep that cannot be overcome. These can cause patients to fall asleep during a conversation or other activity. Patients also report sleep paralysis, or the feeling of being temporarily paralyzed just as they fall asleep or wake up. Not all patients with narcolepsy experience cataplexy, which is defined as a loss of voluntary muscle control when experiencing a strong emotion such as laughter, surprise, or anger. Surprisingly, narcoleptics will experience worsening quality of overnight sleep (dyssomnia) and have frequent nighttime awakenings. The reason why overnight sleep becomes affected is because the sleep hormone hypocretin, which is responsible for the symptoms of narcolepsy, controls sleep-wake patterns. As the disease progresses and more hypocretin cells are destroyed, sleep quality continues to suffer.
As is common for any condition, a thorough history helps suggest narcolepsy. Patients reporting EDS with or without cataplexy should be considered for a narcolepsy evaluation and symptoms should be present for at least 3-6 months. The Epworth Sleepiness Scale is the most commonly used assessment to measure EDS with scores above 10 considered “elevated” and may suggest narcolepsy.
The first step your doctor will recommend is an overnight sleep study to look for other conditions that can cause EDS, such as sleep apnea. The day following the sleep study, your doctor will order a Multiple Sleep Latency Test (“MSLT”) specifically to evaluate for primary hypersomnia and narcolepsy. The MSLT involves taking 5 twenty minute naps 2 hours apart. For a diagnosis, you must take less than 8 minutes on average across the five naps to fall asleep. In addition, at least two naps must include REM (dreaming) sleep. For cases that are not conclusive, your doctor might recommend genetic testing since certain genes have been identified in patients with narcolepsy with and without cataplexy.
Narcolepsy is treated with both lifestyle modification strategies and medications:
Patients may need additional sleep studies over time to evaluate any unexplained worsening of their symptoms or symptoms that are difficult to manage over time.
Children with narcolepsy are eligible for an IEP (Individualized Educational Plan) or 504 Accommodation Plan under “other health impairment” relating to their condition. School accommodations may include:
Older children and adolescents may find comfort in attending local support groups. Social media sites geared towards narcolepsy may provide a way for teenagers to connect with others with similar difficulties if they don’t know anyone personally with the condition. Kristina is a 15-year-old patient from Central Pennsylvania followed by Dr. Tierney. She was diagnosed with narcolepsy at age 9, and she shared with us how narcolepsy has affected her life:
“Having friends that love and care for you, watch out for you, and treat you like a normal human being is most important when living with narcolepsy. I am blessed to have all of these things in my life. Just because you have narcolepsy doesn't mean you can’t do stuff. You can still have fun and do anything you want.”
Dr. Cheryl Tierney, MD, MPH
Alexandra Lazzara and Megan Veglia are fourth year medical students and Elizabeth Miller is a first-year medical student at Penn State Hershey Medical center.
© 2021 American Sleep Association.