The hypersomnia patient is unable to stay alert all day, in fact he may encounter situations of sudden sleep which he cannot escape (eg he may fall asleep during a conversation, during a meal or even while driving) can also have a very hard time waking up in the morning.
It can be difficult for a sick person to stay awake during school or working hours, which makes it difficult – if not impossible for the narcoleptic – to practice some professions where it is necessary to keep concentration high for long periods.
What causes narcolepsy?
Narcolepsy is a disease whose underlying cause is not yet known.
Recent research has shown that several neurotransmitters are involved.
The most important of these is hypocretin (also known as orexin), which in narcoleptics has been shown to be reduced in the cerebrospinal fluid, up to the complete disappearance in 90% of subjects suffering from narcolepsy with cataplexy.
A reduction in hypothalamic neurons secreting this compound was also highlighted in autopsy studies of affected subjects.
Only 1% of cases of narcolepsy are known. The risk of finding narcolepsy among first-degree relatives is 1% – 2%, therefore 30 – 40 times higher than the general population.
This means that genetic factors play a fundamental role in this pathology.
Characteristics of sleep attacks:
- they can last from 15 to 60 minutes each;
- they may occur several times a day;
- they usually occur after eating, but they can occur at any time, such as while driving, talking to someone, or during other situations where there is little movement;
- in some subjects, the intensity of the seizure is characterized by a discrete temporal progressivity that allows them to consciously interrupt their actions and retreat to a suitable place before collapsing to sleep.
Sometimes the person may have dream hallucinations before bedtime or during a seizure.
When you wake up, you feel refreshed even after a brief seizure.
Narcolepsy can also be associated with a temporary and sudden muscle weakness called cataplexy, which is usually caused by strong emotions.
This can be associated with emotional reactions such as anger or laughter and resembles seizures and may involve:
- sudden loss of muscle tone;
- temporary inability to use muscles (sleep paralysis): this condition occurs immediately after awakening or with incipient sleepiness.
Symptoms of narcolepsy
- sudden sleep attacks, one or more times a day;
- excessive daytime sleepiness (the narcoleptic feels a strong urge to fall asleep every 2 hours);
- cataplexy (loss of strength caused by strong emotions such as laughter, embarrassment, anger until it falls to the ground);
- sleep paralysis (the narcoleptic is completely paralyzed before falling asleep or immediately after waking up, by staying completely conscious);
- hypnagogic hallucinations (the narcoleptic daydreams that often interact with reality).
If you are in doubt that your neurological disorder is narcolepsy, the first symptomatology that occurs is excessive daytime sleepiness; you can manifest cataplexy within 1-4 years from the onset of drowsiness, but it can take up to 40-60 years.
There is a rapid and atypical start of REM sleep within 15-20 minutes after you have fallen asleep, you can have daytime seizures every 90-120 minutes, with 5-15 minutes nap where you then remember having dreamed and even feeling sufficiently rested, on the whole you still have a good resistance to sleep between one rest period and the next.
How is narcolepsy diagnosed?
For a correct diagnosis of narcolepsy, it is not enough just to assess the clinical symptoms, it is important to resort to a sleep center for an accurate instrumental diagnosis.
To make a diagnosis of narcolepsy, it is necessary for the subject to complain of almost daily hypersomnia for at least 3 months, which may be associated, when present, with a history of cataplexy.
History findings must be confirmed by performing Multiple Sleep Latency Test MSLT.
MSLT is a day test in which the patient is asked to try to fall asleep 4-5 times during the day.
Each session can last up to 35 minutes and is interrupted with a 2 hour break.
Found during MSLT of an average latency to fall asleep in less than 8 minutes and the onset of REM sleep in at least 2 of the sessions is considered indicative of the disease.
A nocturnal polysomnography, usually performed the night before MSLT, may show early onset REM sleep after falling asleep.
Alternatively, the anamnestic data can be confirmed with a dose of CSF hypocretin-1, which should be ≤110 ng / l.
How Many People Suffer From Narcolepsy?
Narcolepsy does not appear to have a familiarity factor, in fact only 1% of cases have a familial predisposition and appear between 15 and 25 years.
Narcolepsy is likely to be underdiagnosed worldwide; it is found in 0.2-2 cases per. 1000 inhabitants, and only 10-15% of the narcoleptics show all the symptoms, moreover, 85-100% of the narcoleptic patients present the same histocompatibility antigens (ie they have a similar predisposing genetic structure).
Is the use of narcolepsy medication recommended?
Only symptomatic drugs are recommended for narcolepsy with cataplexy, however, it is drugs that alleviate / relieve one or more symptoms of malaise, but which do not cure what triggers this neurological disorder.
Therapy for narcolepsy
The most effective non-drug treatment is based on short restorative naps (a few minutes up to a maximum of 1 hour), which allow the body to resist a few hours, after which sleepiness reappears.
These short sleep phases can range from 6-7 a day. Adults can help themselves with the use of caffeine, which should definitely be avoided in children.
Drug treatment involves taking one of the following drugs depending on each case:
- Sodium oxybate.
Modafinil activates alertness; in adults, it is taken as tablets distributed over the morning to control daytime sleepiness.
It is strongly recommended not to take Modafinil in the early hours of the afternoon as it may interfere with sleep the following night.
There are not many data regarding the study of Modafinil in children, some show effects of taking the same dose as adults, while others only need half the dose.
In general, the side effects are mild and can be: headache, anxiety, nervousness and rhinitis.
Sodium oxybate has sedative and anesthetic properties, greatly induces deep sleep, is taken in syrup before bedtime, and a second dose should be taken after approx. 3 hours.
The greatest effectiveness in combating daytime sleepiness is the association of sodium oxybate at night with modafinil during the day.
The side effects of sodium oxybate are:
- weight loss;
- confusion on awakening;
The above drugs are not a definitive cure: they only cure the symptoms but not the underlying disorder.
However, some recommended behaviors seem to reduce the onset of sleep attacks:
- eat fruits and vegetables during the day and avoid heavy meals before important activities;
- planning a short nap (10 to 15 minutes) after meals, if possible;
- planning a nap to control daytime sleep and reduce the number of unexpected and sudden sleep attacks.
In the presence of this disease, it is necessary to inform teachers and supervisors about the condition of those affected by narcolepsy, so as not to punish them for being “lazy” at school or at work.
Narcolepsy is a chronic, lifelong disease.
It is not a life-threatening or dangerous disease in itself, but it can be if the episodes occur while driving a car, operating machinery or similar activities.
In this regard, it is important that narcolepsy is controlled with sleep therapy to limit the risk of any complications, which are:
- injuries and accidents: if the attacks occur during the activities described above;
- reduction of reliability in the workplace;
- reduction of social activities;
- side effects of drugs used to treat the disease.
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