Abstract
Narcolepsy is a rare condition that affects children and adults, and commonly has an onset in childhood. Time to appropriate diagnosis frequently is at least a decade. Unrecognized or misdiagnosed symptoms of narcolepsy contribute to increased morbidity, disability and socioeconomic liability in these patients. Delays in diagnosis may be related to variability in presentation in childhood, lack of familiarity with symptoms or appropriate diagnostic testing or misdiagnosis with accidental introduction of treatment that may modify or mask narcolepsy features. Improved awareness about the diagnosis and tailored therapies improve clinical and socioeconomic outcomes by reducing time to effective treatment. Application of effective treatment results in long-term benefits by improving clinical outcomes, potentially enabling improved education, increased employment opportunity, and improved work productivity and quality of life. This review provides a comprehensive stepwise approach to improve knowledge and comfort for recognition of symptoms, diagnostic strategies and management considerations of narcolepsy in children and adults.
Highlights
Narcolepsy is a disabling neurodegenerative condition characterized by severe excessive daytime sleepiness (EDS)
It is critical to re-evaluate for symptoms of cataplexy at every visit for individuals who have excessive daytime sleepiness, even those who may have been diagnosed with another sleep disorder, such as sleep apnea, to ensure that the diagnosis of narcolepsy is not missed
It is important to note that an abrupt withdrawal of selective serotonin reuptake inhibitors (SSRI) or serotonin norepinephrine reuptake inhibitors (SNRI) can lead to rebound cataplexy, which is not seen with sodium oxybate [46]
Summary
Narcolepsy is a disabling neurodegenerative condition characterized by severe excessive daytime sleepiness (EDS). EDS is considered one of the most sensitive symptoms of narcolepsy, present in 100% of patients. Narcolepsy Type 1 is characterized by the pentad features of EDS, sleep fragmentation, sleep-related hallucinations, sleep paralysis and cataplexy. Cataplexy is considered the most specific symptom for narcolepsy [2]. A patient may be defined as Narcolepsy. Type 1, even if there is the absence of cataplexy, but there is evidence of hypocretin (orexin) deficiency in the cerebrospinal fluid (CSF). Narcolepsy Type 2 lacks the clinical features of cataplexy, and if CSF hypocretin is performed, it is normal. The perception of the symptoms of narcolepsy may seem wildly random, but are, synthesized by all representing REM (rapid eye movement sleep) dissociative features
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