Narcolepsy in pediatric age – Experience of a tertiary pediatric hospital

Abstract

Narcolepsy, a chronic disorder of the sleep–wake cycle of multifactorial etiology, is characterized by excessive daytime sleepiness, often associated with cataplexy, hypnagogic/hypnopompic hallucinations and sleep paralysis. Both early clinical suspicion and therapeutic approach are essential for promotion of cognitive development and social integration of these children. The authors present a descriptive retrospective study of a series of eight children in whom symptoms first started between 6.8 and 10.5 years of age. Diagnostic delay ranged from 4 months to 2 years. One child had H1N1 flu vaccination eight months before the clinical onset. The first multiple sleep latency test was positive in 6 of 8 cases. All cases were treated with methylphenidate, and venlafaxine was associated in 4 of them. In one case the initial therapy was exclusively behavioral. In all cases, symptomatic improvement, better school performance and social integration were achieved after therapeutic adjustment.

Narcolepsy - when diagnosis doesn't meet all the criteria – case report

“…[10] He had HLA-DRB1*1501/DQB1*0602, which is present in 75-90% of the Caucasian patients with narcolepsy with cataplexy. [4] In our case, all clinical criteria for NT1 were present except low CSF hcrt1 levels.…”

“…[1,3] HLA-DRB1*1501 is also frequently found in association with HLA DQB1*0602 in Caucasian's narcolepsy with cataplexy patients, increasing the likelihood of severe EDS. [4,5] As environmental factors, some studies point to the 2009 H1N1 pandemic vaccine and disease, antibodies to streptococcal infections, and more recently the SARS-CoV-2 vaccine as a trigger for the development of narcolepsy in predisposed individuals. [6] Cataplexy is a key diagnostic marker for NT1 and is characterized by transient episodes of an absent tone, often provoked by emotional input such as laughter, joking, pleasant surprise or anger [7].…”

“…Brain tumors or traumatic injuries, central nervous system infections, genetic syndromes and hereditary metabolic diseases are the most frequent causes that need to be ruled out. [2,4,8] Multiple sleep latency test (MSLT) and polysomnography are mandatory exams for narcolepsy diagnosis. Hallmarks for diagnosis in MSLT are a short median sleep latency (less than 8 minutes) and the presence of at least two of sleep onset rapid eye movement periods (SOREM).…”

Academic and socio-professional trajectories in narcolepsy type 1: the NARCOSCOL-NARCOVITAE multicentric study

“…8,14,15 Interestingly, academic performance has been found to improve after appropriate treatment. 16,17 Data retrieved from adult patients are in line with these pediatric studies, even if some research provides a more nuanced perspective by suggesting that, despite academic difficulties, the graduation rate might not be significantly impaired. Three studies reported no difference in educational level in adults with narcolepsy as compared to healthy controls or the general population, 14,18,19 whereas significant impairment was reported in patients with childhood and adolescent-onset narcolepsy.…”

Pediatric Narcolepsy: A Brief Report

“…Although in the case described above the diagnosis of this rare disease was made early, thanks to the knowledge, experience, and cooperation of all interested parties, that is, general pediatrician, specialist doctors, parents, and the patient himself, it is not always the case and it can take months or also years before the disease is diagnosed among these young patients. 4-6 It is obvious from the findings described above that EDS is usually the first and the only symptom to be clinically apparent, especially in the case of children since cataplexy and other REM sleep phenomena may develop with some delay in children. 7 Therefore, it is essential to perform relevant tests such as OPSG and MSLT, although MSLT is not validated for preschool children and not used for younger children.…”