Review of the Nexus Narcolepsy Registry revealed that nearly 60% of participants received at least one misdiagnosis before having narcolepsy identified. Psychiatric comorbidity can present a unique challenge in that both the symptoms and the treatment of psychiatric disease can lead to masking of narcolepsy symptoms. Misdiagnosis and comorbidity can contribute to the delay in diagnosis of narcolepsy. Īn investigation of 1000 patients with narcolepsy showed a median onset of symptoms at 16 years, but the median age of diagnosis of 33 years, illustrating the significant delay in diagnosis. Adults frequently achieve a lower earning potential and employment rates, increased psychiatric and medical co-morbidity, higher degrees of disability. Children and adolescents frequently suffer from poor school performance, strained family relationships, depressed feelings, impaired social life and even isolation. The burden of narcolepsy can vary with the age of onset and time to diagnosis. Onset of symptoms typically occurs in a bimodal distribution with an initial main peak at 15 years old and a lesser second peak at approximately 35 years old. Cataplexy presence as an initial symptom, however, is generally associated with a shorter time to diagnosis. Diagnosis frequently can take as long as 8–10 years to be achieved. It is estimated that about 1 in 2000 individuals are affected, but up to 50% of individuals may currently be undiagnosed. The perception of the symptoms of narcolepsy may seem wildly random, but are, in fact, synthesized by all representing REM (rapid eye movement sleep) dissociative features. Narcolepsy Type 2 lacks the clinical features of cataplexy, and if CSF hypocretin is performed, it is normal. 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).

Cataplexy is considered the most specific symptom for narcolepsy. Cataplexy are transient episodes of aberrant tone that are frequently provoked by strong emotion. Clinically, Narcolepsy Type 1 is characterized by the pentad features of EDS, sleep fragmentation, sleep-related hallucinations, sleep paralysis and cataplexy. There are two types of narcolepsy recognized: Narcolepsy Type 1 (NT1) and Narcolepsy Type 2 (NT2). In fact, EDS is considered one of the most sensitive symptoms of narcolepsy, present in 100% of patients. Narcolepsy is a disabling neurodegenerative condition characterized by severe excessive daytime sleepiness (EDS). 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. 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. Improved awareness about the diagnosis and tailored therapies improve clinical and socioeconomic outcomes by reducing time to effective treatment. 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.

Unrecognized or misdiagnosed symptoms of narcolepsy contribute to increased morbidity, disability and socioeconomic liability in these patients. Time to appropriate diagnosis frequently is at least a decade. Narcolepsy is a rare condition that affects children and adults, and commonly has an onset in childhood.

Type 2 narcolepsy treatment