Narcolep…… ZZZZZZ

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Posted by Ayushi Desai, MSIV, Drexel University College of Medicine

Fatigue. I imagine it ranks highly among the most unifying experiences shared by Americans in this day and age. Amidst torturously busy schedules, sleep deprivation, taxes, and the unyielding restraints of a day comprised of only 24 hours, I can blame no one for being tired, just, ALL the time.

Sometimes I wonder whether those of us who are affected by this obnoxious, unremitting daily fatigue secretly have undiagnosed narcolepsy.

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Let’s be serious — how many of us can really sit through some performance in a dark theater without catching even a few Zs? And aren’t we all jealous of kindergarteners, whose workday includes a mandatory scheduled nap?

I’m embellishing, of course, but I may not be too far off. As we delve further into the study of sleep, we are starting to realize that narcolepsy is, indeed, hopelessly underdiagnosed.

Down to the basics, narcolepsy is a sleep disorder characterized by the early intrusion of REM in the sleep cycle, which eventually translates into excessive daytime fatigue and resultant episodes of irrepressible need to sleep.

How this happens is slightly complicated and represents an unfortunately vicious cycle:

In a nutshell, restful sleep occurs during stages 3 and 4 — at this time brain waves are slow, and we are allowed to recuperate in so-called “deep sleep.”  In contrast, brain waves seen on polysomnography during the REM stage are fast and essentially the same as those seen when someone is awake with their eyes closed… Which means that in REM, our brains act as if we are awake. It becomes easier, then, to imagine how (8 hours or not) a night spent predominantly in REM equates to extremely poor sleep quality. This poor sleep quality in a narcoleptic leads to the aforementioned characteristic excessive daytime fatigue, and suddenly, we have a person who is almost involuntarily taking REM naps and doing other sorts of REM things throughout the day, everyday.

These other REM things? During REM, we have “awake” brains, we have dreams, and our bodies lose all muscle tone (USUALLY rendering us completely unable to move). Those suffering from narcolepsy manifest the latter two during the day and undergo peculiar experiences: CataplexyHypnaGOgic Hallucinations (vivid dream-like hallucinations experienced while GOing to sleep), and the ever-terrifying Sleep Paralysis.

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Sleep Paralysis (yikes)

As we can imagine, these key sleep pathologies are likely a source of significant embarrassment and suboptimal quality of life in sufferers of narcolepsy.

So how do we treat it? The most important aspect is, of course, in diagnosing it! Which means recognizing when a patient might have it — a ballgame in which it seems we have been falling behind. Unless the disease process is frank and severe, it may be difficult for a narcoleptic patient to recognize the characteristic “buzzword” signs and symptoms (or even that there may actually be something underlying their round-the-clock tiredness). So perhaps it might be prudent to consider the diagnosis of narcolepsy in a person experiencing chronic daily fatigue, with the first step being simply to ask if our perpetually half-awake patient sometimes experiences symptoms that sound somewhat like cataplexy, hypnagogic hallucinations, or sleep paralysis. We can throw in an Epworth Sleepiness Scale to get a baseline of how terribly the tiredness affects activities of daily living, and after that, sleep studies are the way to go.

Besides the obvious, though, traditional treatments are aimed largely at helping to improve symptoms (as we’ve not yet struck the gold in finding a cure). CNS stimulants such as methylphenidate (Ritalin), amphetamine (Adderall), modafinil (Provigil), and armodafinil (Nuvigil) have achieved moderate success in eliminating the chronic fatigue. We’ve even used tricyclic antidepressants (clomipramine/imipramine) and other medications with anticholinergic side effects to alleviate cataplexy. However, I am most intrigued by the eventual advent of an orexin-receptor agonist. While we aren’t yet quite sure how exactly narcolepsy develops, it is widely believed that the neurotransmitter orexin (aka hypocretin) is deficient in narcoleptics. It is hypothesized that finding a way to upregulate the production of orexin in narcoleptic patients may lead to disease remission without all the nasty side effects of medications.

So… are most of us realistically secret narcolepsy victims? Probably not. But here’s a link to the Epworth Sleepiness Scale in case you want to assess how well you’ve fared in the fight against fatigue.

Based on my results, I’ve likely been asleep during this entire blogging experience.

Restless Leg Syndrome and early death?

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A recent study in Neurology got a lot of press recently when it suggested that men with restless leg syndrome (RLS) are at a 40% higher risk of death from all causes than similar men  without the condition.  Dr. Xiang Gao, and his colleagues at Harvard, followed 18,000 men over 8 years and found evidence of increased mortality in men with RLS, even when controlling for other risk factors.

RLS typically causes discomfort in the legs and feet during the night.  This discomfort is often relieved by moving the legs, rubbing the feet, or walking around.  It often can impact sufferers’ ability to fall asleep and stay asleep.  In severe cases, it can affect the arms and can also occur during the day.

There has not been any convincing evidence that it is otherwise dangerous, however.  In fact, several previous studies looking at the condition did not show a link to early death.

Because RLS is shown to cause sleep fragmentation and insomnia, it could be argued that the increased mortality risk seen in this study is a result of generally poor sleep, and not RLS per se.  Therefore, these results should be interpreted with extreme caution.

This study, if nothing else, indicates the need for further research on this elusive disorder.

Why it happens and what it means are still generally unknown.

It can profoundly impact sleep quality and therefore quality of life.

There are some who do not believe RLS is a legitimate disorder. Those who live with the disorder would disagree.

RLS can be quite debilitating.  However, many treatment options exist for RLS and many of the symptoms can be improved.

If you think you may have RLS, seeing a neurologist or a sleep specialist is often the best step.

Neuromuscular respiratory failure

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Each lung is composed of >300 million tiny membrane bound sacs of air sacs (alveoli) which if spread out would cover a piece of ground roughly the size of a tennis court.  The purpose of this giant membrane is to exchange oxygen from the air for carbon dioxide from the blood stream.

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If the lungs become congested (or filled with fluid) from infection (pneumonia) or heart failure, it becomes harder to extract oxygen from the air:

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Treatment includes adding extra oxygen to the air to make this process more efficient.

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However, gas exchange across the alveoli can only occur if fresh air is brought into the lungs, and stale air is moved out, a process known as ventilation.  The diaphragm and muscles of the chest wall act like a giant bellows to make this happen:

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These muscles can become weak in nerve or muscle diseases such as Guillain-Barré syndrome, polio, amyotrophic lateral sclerosis (ALS), Duchenne Muscular Dystrophy and myasthenia gravis.

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These patients are evaluated by pulmonary function testing, which will usually show a low forced vital capacity, low cough flow, and in advanced cases, elevated end-tidal carbon dioxide level.

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Patients with this type of ventilatory failure do not need extra oxygen, their lungs can extract oxygen from air normally, they need mechanical assistance moving air across their lungs:

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Early neuromuscular respiratory muscle weakness causes nocturnal hypoventilation.  This is because the weakened diaphragm is even more inefficient when laying supine in bed with the stomach contents pressing up on it.

Nocturnal hypoventilation presents with daytime sleepiness, early morning headaches, fatigue, and impaired cognition.

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Click here to take an on-line test, and find out how sleepy you are during the day.  If you score 10 or higher, you might have a problem!

Nocturnal hypoventilation is best treated using a non-invasive respirator at night, either with a face or nose mask:

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Other patients use a negative pressure respirator vest, or cuirass, which requires the patient to wear an upper body shell  attached to a pump which actively controls the respiratory cycle:

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Neuromuscular respiratory failure also leads to an ineffective cough, which in turn predisposes patients to aspiration, retention of secretions, or pneumonia.  Affected patients need to learn to use the cough assist machine when they get a minor respiratory tract infection to help them clear their secretions and prevent pneumonia:

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More severe neuromuscular ventilatory failure leads to rapid shallow breathing, accessory respiratory muscle use, thoracoabdominal paradox (inward motion of the abdomen during inspiration), and ultimately high blood levels of carbon dioxide.

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Thoracoabdominal paradox – Normal (upper) abdomen moves outward with inspiration (diaphragm contraction). NM weakness (lower) abdomen moves in when patient inspires using accessory muscles.

In these cases, respiratory support is needed day and night.

Some patients can continue to use non invasive respiratory support, sleeping with a face or nose mask, and using a mouth piece intermittently during the day:

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Others cannot tolerate noninvasive ventilation or have anatomic abnormalities that preclude fitting of noninvasive ventilators.  Some disease, such as advanced ALS and Duchenne muscular dystrophy, affect the upper airway muscles as well as the diaphragm, impairing swallowing and compromising airway protection from aspiration.  These patients can chose to be managed with invasive respiratory support using a tracheotomy and conventional ventilator.

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Click here and and here to find out more about the management of neuromuscular respiratory failure.

Another reason to take snoring seriously! Sleep apnea linked to strokes.

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Sleep apnea, the disorder that causes a person to stop breathing suddenly while sleeping, is already known to increase the risk of high blood pressure, heart failure, and daytime sleepiness.

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A new study suggests that the sleep disorder is also linked with small brain lesions and a symptomless form of stroke, known as silent stroke.

In the study, 56 men and women ( aged 44 to 75 years) who’d had a recent stroke or TIA underwent overnight polysomnograms.  91% had sleep apnea.

Furthermore, having more than five episodes of sleep apnea in a night was linked with having multiple extra “silent strokes” on their brain imaging studies.

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Silent strokes don’t cause any symptoms as they occur, so a person typically doesn’t know he or she has suffered one, but they can eventually lead to memory loss and difficulties with walking, as their effects accumulate over the years.”

Yet another reason to take the on-line sleepiness test, and if your score is >10 see a sleep specialist and/or get an overnight polysomnogram in a certified sleep laboratory.

Should “mild” sleep apnea be treated?

Have you had a sleep study and were told it showed “mild” sleep apnea, but treatment wasn’t necessary?  This very issue is often debated within the sleep community.  The presumption among some practitioners and patients is that the perceived “burden” of CPAP probably outweighs the benefit of treatment.

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Sleep specialists are well aware that even patient’s with mild sleep apnea, usually defined by an apnea index of less than 15, can have a benefit from treatment with CPAP.  A recent study gives evidence for this.

Published in the journal, Thorax, the MOSAIC randomized trial sought to determine the effect of CPAP treatment on patient’s with mild OSA.  The determined effect was based on questionnaires regarding daytime sleepiness and function, as well as a variety of physiologic parameters, including blood pressure, blood sugar control, and cholesterol that signify vascular risk.

At 6 months, the patient’s were reassessed.  Even with a median CPAP usage of only about 2.5 hours per night, there was a significant improvement in daytime sleepiness scores.  There was no detected effect on vascular risk.  An obvious limitation of the study is that followup was only at 6 months, when the average usage of CPAP was still suboptimal.

Nevertheless, this study brings up a number of important points:

  • First, CPAP works!  The prospect of wearing a mask on your face to sleep may sound daunting.  With an experienced sleep specialist helping out, most patients can make get through those first few weeks.  They can actually learn to love it for the simple reason that it can make you feel better.  There are literally hundreds of different types of masks and one can usually be found that’s comfortable for you.  As this study shows, even patients with “mild” OSA can get a benefit from using it.
  • Second, health benefits from using CPAP are real.  Though the effect of CPAP on blood pressure, cardiovascular, and cerebrovascular  risk in mild OSA is modest, the risk reduction in people with moderate to severe OSA is very significant.

The important point here is that if you have symptoms of sleep apnea, such as excessive daytime sleepiness or snoring, and your sleep study shows only “mild” disease, treatment can work. 

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Find out more:

Sleep disorders in general,

Monmouth’s Sleep Lab,

Monmouth Neuroscience Institute’s Comprehensive Sleep Medicine Program.

Is sleep apnea making my child’s ADD/ADHD worse?

The short answer? Maybe!

Obstructive sleep apnea (OSA) is a fairly common, yet under-diagnosed condition in which the upper airway collapses during sleep. This leads to “microarousals” during sleep that prevents a good night’s rest.

The disorder is seen in both adults and children:

In adults, it usually manifests as daytime sleepiness.

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In kids and adolescents, the symptoms are sometimes more subtle.  They can take the form of lack of focus in school, a perception of hyperactivity, or learning difficulties.  One recent study showed clear negative effects of OSA on behavior regulation and some aspects of attention and executive functioning. Furthermore, another study showed that urban schoolchildren with aggressive behaviors have symptoms of OSA at a significantly higher frequency than others.

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If any of these symptoms sound familiar, you’re right! They overlap quite a bit with some of the symptoms of ADD/ADHD.

There’s no clear evidence that OSA causes ADD/ADHD. However, the manifestations of OSA can sometimes mimic that of ADD/ADHD. Additionally, in patients already diagnosed with ADD/ADHD, there is convincing evidence that OSA worsens symptoms of inattention and behavioral issues.

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Most importantly, treatment of the OSA seems to have a favorable impact on behavioral issues.

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So, what should you do?

Kids (or adults) with the diagnosis or suspicion of ADD/ADHD who also complain of excessive sleepiness during the day, snore loudly, or whose parents see them have pauses in breathing at night should be evaluated by a sleep specialist. It’s possible that further testing with a sleep study would then be warranted. Again, OSA does not cause ADD/ADHD — but it does seem that treatment can improve behaviors.

Post provided courtesy of Matthew J. Davis, MD

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Find out more:

Sleep disorders in general,

NY Times Sunday Review article on this same subject.

Monmouth’s Sleep Lab,

Monmouth Neuroscience Institute’s Comprehensive Sleep Medicine Program.