![]() ![]() The prevalence of narcolepsy with cataplexy is around 0.05% in Europe and in North America, but for children epidemiological data are lacking. ![]() Brain magnetic resonance imaging basically serves to exclude a secondary form of narcolepsy, due for example to a brain tumor. ![]() The clinical diagnosis of narcolepsy must be supported by instrumental evidence, including findings from nocturnal polysomnography and in particular the multiple sleep latency test, which shows in these patients a decreased mean sleep latency and the appearance of rapid eye movement (REM) sleep within 15 min of falling asleep ( 3). Narcolepsy type 1, unlike type 2, is clearly pathophysiologically related to a severe loss of hypocretin-secreting neurons (located in the hypothalamus), most probably caused by autoimmune mechanisms induced by environmental factors in subjects with a genetic predisposition. ![]() Depending on whether or not cataplexy is present, narcolepsy is divided into two types: with (type 1) and without (type 2) cataplexy or cerebrospinal hypocretin-1 deficiency ( 2). Narcolepsy represents a lifelong and disabling neurologic disorder, whose classical main clinical features include: excessive daytime sleepiness cataplexy, that is the sudden emotion-induced loss of muscle tone sleep paralysis hypnagogic (while falling asleep) or hypnopompic (while waking) hallucinations and disturbed nocturnal sleep ( 1). At the same time, it appears necessary to screen in the individuals with autism spectrum disorder for the possible presence of evoking symptoms of narcolepsy. Basing on the literature data summarized in this paper, in the diagnostic work-up of a child with narcolepsy it is essential to evaluate also the social-communicative behavior using standardized tools in order to detect the real recurrence of clinical features suggesting an autism spectrum disorder. The finding of a connection between narcolepsy and autism spectrum disorder could boost the study of possible etiopathogenetic mechanisms shared between these two apparently so distant disorders. Till now, in literature the number of cases affected by both narcolepsy and autism spectrum disorder (seven patients) has been clearly too small to demonstrate the presence of a pathogenetic link between these two conditions, but this possible connection has not yet been adequately investigated, despite the presence of several points in common. However, narcolepsy can be associated also with introversion, sorrowfulness, feelings of inferiority, impaired affectivity modulation, emotional lability, irritability, aggressiveness, and poor attention, that have been pooled by some authors under a definition of “narcoleptic personality.” Some aspects of this “narcoleptic personality,” and in particular introversion, impaired affectivity modulation, irritability, and poor attention, partially overlap with the clinical features of the individuals with autism spectrum disorder, considering also those that are not regarded as core autism symptoms. The most frequent psychiatric disorders reported in these patients are attention deficit/hyperactivity disorder, depression, anxiety disorder, and schizophrenia. Narcolepsy in childhood-adolescence is characterized by a high occurrence of psychiatric comorbidities.
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