![]() Otherwise the clinical picture was similar to that described in childhood narcolepsy. ![]() ![]() Forty-seven (94%) had cataplexy, which started at the same time or soon after the onset of EDS. All 50 had EDS with abnormal multiple sleep latency test (sleep latency <8 min and ≥2 sleep onset REM periods). 50/54 children had received Pandemrix vaccination 0 to 242 days (median 42) before onset. ![]() Thirty-four of the 54 children were HLA-typed, and they were all positive for narcolepsy risk allele DQB1*0602/DRB1*15. Among adults ≥20 years of age the incidence rate in 2010 was 0.87/100 000, which equals that in 2002–2009. In 2010, 54 children under age 17 were diagnosed with narcolepsy (5.3/100 000 17-fold increase). The average annual incidence among subjects under 17 years of age was 0.31 (0.12–0.51) per 100 000 inhabitants. The evolution of the disease is often stable with a frequent improvement of sleepiness and cataplexy, but with age there is an aggravation of the poor quality of night sleep.Altogether 335 cases (all ages) of narcolepsy were diagnosed in Finland during 2002–2009 giving an annual incidence of 0.79 per 100 000 inhabitants (95% confidence interval 0.62–0.96). Narcolepsy can severely disable scholarly and professional performances. A good sleep hygiene is always recommended, with scheduled short naps, and regular sleep habits. Sodium oxybate is efficient for sleepiness, cataplexy and disturbed nocturnal sleep. Second-line treatments are methylphenidate, solriamfetol or amphetamines. First-line treatment of diurnal sleepiness is often with modafinil but it can be also with pitolisant or sodium oxybate. It comprises stimulants (modafinil, methylphenidate, amphetamine, pitolisant, solriamfetol), anticataplectic drugs (antidepressants) or sodium oxybate. Treatment is nowadays only symptomatic, as the loss of orexin neurons is irreversible. Rare familial cases have been reported (<2%) however the mode of inheritance is unclear. In absence of typical cataplexy, other causes of sleepiness must be considered, such as chronic insufficient sleep, idiopathic hypersomnia or narcolepsy without cataplexy, now called narcolepsy type 2. Differential diagnosisĬataplexy must be typical to be confident with the diagnosis. The presence of low hypocretin-1 levels (<110 pg/ml) in the cerebrospinal fluid can confirm the diagnosis with an excellent sensibility and specificity. Nocturnal and daytime polysomnography demonstrate an average sleep latency of under eight minutes with at least two sleep onset rapid eye movement periods (SOREMP) on multiple sleep latency tests. Diagnostic methodsĭefinitive diagnosis requires the presence of clinical symptoms, characteristic polysomnography findings and/or low hypocretin-1 levels in cerebral spinal fluid. An autoimmune origin for the disease is highly suspected, particularly environmental factors interacting with susceptibility genes (more than 98% of the patients carry the HLA-DQB1*0602 allele) however, this is unproven. The disease is due to loss or impairment of the orexin/hypocretin neurons of the lateral hypothalamus that results in decreased hypocretin-1 levels in the cerebrospinal fluid. Other, non specific, clinical signs include hypnagogic hallucinations, sleep paralysis, disturbed nocturnal sleep, and weight gain, especially in children. The average time between the age of appearance of the symptoms and the diagnosis is still very long, 10 years. The age of onset varies between 10 and 30 years old and symptoms are lifelong. Narcolepsy type 1 prevalence is estimated between 1/2,000 and 1/5,000.
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