The history of narcolepsy

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Narcolepsy is a neurological condition that causes severe tiredness and sleep attacks during the day (Bastianini et al., 2015). In the 1880s, the illness was classified as a clinical disorder for the first time. It is important to highlight that the disorder's fundamentals were uncovered over a long period of time. Currently, fresh information on narcolepsy is being discovered. Despite several treatment options, scientists and clinicians have failed to develop a cure for Narcolepsy (Pintwala & Peever, 2017).  Despite the fact that Narcolepsy symptoms have been there for many centuries, the traceable history of this disorder dates back to the seventeenth century through Thomas Willis, who was one of the physicians at Oxford. Interestingly, though Willis never used the term "Narcolepsy", he described a "sleepy disposition" among his patients by referring to sudden sleep that many of the patients experienced. Surprisingly, and out of curiosity, Willis would suggest that caffeine was a suitable treatment for Narcolepsy.

Later on in the 1870s, Fisher and Westphal, who were renowned doctors from Germany, would focus their studies on the Narcolepsy symptoms (Bastianini et al., 2015). Some of the symptoms they observed among their patients included hallucinations and automatic behaviors, which would make victims go on with some daily chores while still asleep. Consequently, Dr. Westphal became the first doctor to categorize Narcolepsy as one of the physical disorders. A French doctor, Gélineau would later in 1880 come up with the term "Narcolepsy" when referring to the disorder (Pintwala & Peever, 2017). In naming the condition, he combined the terms "narke" and "lepsis", which in Greek means numbness and attack, respectively. One of the criticisms of Gélineau's efforts is his failure to differentiate between weakness of body muscles and actual sleep attacks.

In the twentieth century, Dr. Loëwenfeld, a physician, would play an instrumental role of separating the pathology of sleep attacks and muscle weakness (Pintwala & Peever, 2017). Consequently, he would be credited for the term "cataplexy", as a reference to the muscle weakness. In his 1907 book, "The Border-Land of Epilepsy", Dr. William Gowers argued that Narcolepsy needed to be considered as a unique disorder, and be separated from other conditions that were known to cause extreme sleepiness during daytime (Bastianini et al., 2015). In 1957, doctors David Daly and Robert Yoss from Mayo Clinic would unite four known classical symptoms, which included cataplexy, hypnagogic hallucinations, sleep paralysis, as well as extreme daytime sleepiness. Connectedly, their work would establish definitive criteria for diagnosing narcolepsy - the narcoleptic tetrad. In 1970, an American doctor, William Dement, decided to establish the first clinic to deal with sleep disorders in San Francisco (Bastianini et al., 2015). The main objective was to study more about Narcolepsy. In this process, he noted that the disorder was transmitted through genetics, which was one of the breakthroughs in the study of Narcolepsy. In the twenty first century, the exact cause of Narcolepsy's development is still yet to be known. Several studies are still being conducted by scientists, such as finding out if there is a link between Parkinson disease and Narcolepsy, body temperatures and Narcolepsy, environmental factors and Narcolepsy, among others.

Epigenetic Causes

Scientists argue that the combination of environmental and genetic factors could be the main causes of Narcolepsy (Thorpy & Krieger, 2014). Studies have revealed that sleep abnormalities are closely rated to the loss of neurons cells in the hypothalamus. The neuron cells are known to produce chemicals referred to as the orexins, also called hypocretins, which, among other body functions, control the sleep cycle (Bastianini et al., 2015). Although it is not clear what leads to the death of this type of neurons, evidence shows that it could be due to abnormalities of body's immune system.

Further, changes observed in some genes are also associated with the development of Narcolepsy (Pintwala & Peever, 2017). HLA-DQB1 is one of the most studied genes. HLA-DQB1 is responsible for providing instructions in the process of making a protein that helps in the control of body's immune system. According to researchers, HLA-DQB1 gene forms part of the human leukocyte antigen (HLA) complex, and has different variations. One of such variations, HLA-DQB1*06:02, is linked to Narcolepsy, especially in those individual with cataplexy or people experiencing the loss of orexins (Bastianini et al., 2015). However, scientists are yet to understand how genetic changes affect the risk of Narcolepsy's development. Although there is other genetic variation linked to Narcolepsy. They only contribute a small portion of risks associated with Narcolepsy.

Symptoms and Treatment of Narcolepsy

As noted above, one of the main symptoms of Narcolepsy is experiencing excessive daytime sleepiness (EDS) (Pintwala & Peever, 2017). EDS refers to consistent sleepy feelings characterized by dozing off during daytime, and commonly at inappropriate times. A victim also experiences hypnogogic hallucinations that take place while sleeping. Such hallucinations are known to be caused by dreams that occur with REM sleep, as well as blend of individual's wakefulness. Another symptom is cataplexy, which refers to a sudden weakness of muscles in the neck, knees and face. In most cases, some individuals may only have mild weakness, such as jaw and head drop, while others go through complete collapse to the ground. The weakness episodes are often caused by strong emotions of laughter, surprise and anger, but only lasting for two or less minutes (Pintwala & Peever, 2017). As another symptom, sleep paralysis occurs when one is unable to speak or move when waking up or falling asleep. However, these episodes only last for few minutes or seconds, before one regains capacity to speak and move.

On the other hand, there is no cure for Narcolepsy, but there are varied treatment methods. The EDS for example is treated using amphetamine-like stimulants, such as modafinil, methylphenidate, and dexamphetamine (Pintwala & Peever, 2017). However, they are controlled to limit abuse and tolerance. Cataplexy is treated with antidepressants that help in suppressing REM sleep. Other drugs used to treat Narcolepsy include Clomipramine, selective norepinephrine reuptake inhibitors (SNRIs) and Selective serotonin reuptake inhibitors (SSRIs).

Annotated Bibliography

Ueki, Y., Hayashida, K., Komada, Y., Nakamura, M., Kobayashi, M., Iimori, M., & Inoue, Y.

(2014). Factors Associated with Duration Before Receiving Definitive Diagnosis of

Narcolepsy among Japanese Patients Affected with the Disorder. International

Journal of Behavioral Medicine, 21(6), 966-970.

In the study, "Factors Associated with Duration before Receiving Definitive Diagnosis of Narcolepsy among Japanese Patients Affected with the Disorder", the authors aimed at determining the main factors that are associated with the long period before one is diagnosed with Narcolepsy. According to the authors, victims of this disorder are subjected to many disadvantages and social disturbances such as job loss and underachievement before they are diagnosed. The study, which was conducted among 181 consecutive patients in Japan, used multivariate logistic regression method. The researchers used the period before diagnosis and descriptive clinical as the dependent and independent variables, respectively. The results showed that most participants spent an average of nine to ten years before being definitively diagnosed. The authors found that more than fifty percent of the victims got information about Narcolepsy from the media. The conclusion was that ignorance contributed to delay in seeking medical assistance, thus lengthening the period before being diagnosing. The article plays an instrumental role of highlighting the need for public sensitization and empowerment, which is a key component in dealing with Narcolepsy.

Sansa, G., Gavaldà, A., Gaig, C., Monreal, J., Ercilla, G., Casamitjana, R., & ... Santamaria, J.

(2016). Exploring the presence of narcolepsy in patients with schizophrenia. BMC

Psychiatry, 161-7.

The objective of this study was to determine the relationship between narcolepsy and schizophrenia. The authors used screened 366 consecutive patients who had had schizoaffective disorder and schizophrenia, in determining the presence of narcolepsy symptoms. Through the use of Epworth Sleepiness scale (ESS) and questionnaire, the results showed that narcolepsy with cataplexy was present in a number of cases, thus indicating a close connection between the two disorders.

Lecendreux, M. (2014). Pharmacological Management of Narcolepsy and Cataplexy in Pediatric

Patients. Pediatric Drugs, 16(5), 363-372.

In this study, Lecendreux focused his discussion on the etiology, epidemiology, and treatment of pediatric Narcolepsy, as well as effect of drugs and the current trends in this field (Lecendreux, 2014). Further, the author has provided recommendations for future directions. The author used literature review approach in addressing these issues. In the article, Lecendreux argues that there is need to adopt pharmacological approaches in managing Narcolepsy symptoms among children since there are no disease-modifying and curative therapies (Lecendreux, 2014). Although this is critically important, Lecendreux agrees that more evaluation in this area is required.

Synthesis

The paper has briefly described the historical background of Narcolepsy. In this introductory section, it is clear that very little information was known about this disorder. Although the earlier physicians, doctors and scientists agreed on the symptoms of Narcolepsy, the main challenge, which still is, is determining the cause of Narcolepsy development (Pintwala & Peever, 2017). However, genetic and environmental factors have widely been associated with Narcolepsy as shown above. Despite having evidence of genetic variations and their connection to Narcolepsy, researchers argue that a lot need to be done to not only understand the cause of the disorder's development, but also its relationship to various risk factors and other disorders. Under the "Symptoms and Treatment of Narcolepsy" section, the paper has highlighted four main symptoms of Narcolepsy, which include excessive daytime sleepiness (EDS), hypnogogic hallucinations, cataplexy, and sleep paralysis. As noted, there is no cure for Narcolepsy, but there are varied methods of treatment such use of amphetamine-like stimulants for EDS and antidepressants in suppressing REM sleep (Pintwala & Peever, 2017). The evaluation of three articles above shows that there is a lot to be done in terms of dealing with Narcolepsy, such as sensitization, understanding efficacy of drugs and the relationship between Narcolepsy and other disorders. Therefore, through this paper it is clear that researchers, physicians and doctors have still a lot to do in helping to understand Narcolepsy.

References

Bastianini, S., Silvani, A., Berteotti, C., Lo Martire, V., Cohen, G., Ohtsu, H., & ... Zoccoli, G.

(2015). Histamine Transmission Modulates the Phenotype of Murine Narcolepsy Caused

by Orexin Neuron Deficiency. Plos ONE, 10(10), 1-16.

Lecendreux, M. (2014). Pharmacological Management of Narcolepsy and Cataplexy in Pediatric

Patients. Pediatric Drugs, 16(5), 363-372.

Pintwala, S., & Peever, J. (2017). Circuit mechanisms of sleepiness and cataplexy in narcolepsy.

Current Opinion In Neurobiology, 4450-58.

Sansa, G., Gavaldà, A., Gaig, C., Monreal, J., Ercilla, G., Casamitjana, R., & ... Santamaria, J.

(2016). Exploring the presence of narcolepsy in patients with schizophrenia. BMC

Psychiatry, 161-7.

Thorpy, M. J., & Krieger, A. C. (2014). Delayed diagnosis of narcolepsy: characterization and

impact. Sleep Medicine, 15(5), 502-507.

Ueki, Y., Hayashida, K., Komada, Y., Nakamura, M., Kobayashi, M., Iimori, M., & Inoue, Y.

(2014). Factors Associated with Duration Before Receiving Definitive Diagnosis of

Narcolepsy among Japanese Patients Affected with the Disorder. International Journal

Of Behavioral Medicine, 21(6), 966-970.

April 19, 2023
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