Narcolepsy type 1 features across the life span: age impact on clinical and polysomnographic phenotype

Lividini, Althea; Pizza, Fabio; Filardi, Marco; Vandi, Stefano; Ingravallo, Francesca; Antelmi, Elena; Bruni, Oliviero; Cosentino, Filomena Irene Ilaria; Ferri, Raffaele; Guarnieri, Biancamaria; Marelli, Sara; Ferini‐Strambi, Luigi; Romigi, Andrea; Bonanni, Enrica; Maestri, Michelangelo; Terzaghi, Michele; Manni, Raffaele; Plazzi, Giuseppe

doi:10.5664/jcsm.9198

Cited by 15 publications

(6 citation statements)

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“… 54 We reported here the association between diagnostic delay and poor nighttime sleep. We recently found that disturbed nocturnal sleep is associated with aging, 52 disease severity, and objective daytime sleepiness in NT1. 55 Our results also suggest that higher daytime REM sleep propensity (ie, shorter mean REM latency of MSLT) and longer duration of irresistible daytime sleep can shorten the diagnostic delays.…”

Section: Discussionmentioning

confidence: 99%

“…We think that the decrease in nocturnal total sleep time and sleep efficiency may be consequences of the diagnostic delay rather than causes, ie, patients with longer diagnostic delay are more likely to have poorer nocturnal sleep because of the deterioration of disease and aging. 52 Although disrupted nighttime sleep is a key symptom of narcolepsy, it has received less attention than EDS and cataplexy, and its exact pathophysiology is still unknown. 53 In fact, currently most narcolepsy medications (except for Sodium Oxybate) cannot consolidate the patient’s nocturnal sleep, in spite of the improvement of EDS and cataplexy.…”

Section: Discussionmentioning

confidence: 99%

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Idling for Decades: A European Study on Risk Factors Associated with the Delay Before a Narcolepsy Diagnosis

Zhang¹,

Dauvilliers²,

Plazzi³

et al. 2022

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Purpose Narcolepsy type-1 (NT1) is a rare chronic neurological sleep disorder with excessive daytime sleepiness (EDS) as usual first and cataplexy as pathognomonic symptom. Shortening the NT1 diagnostic delay is the key to reduce disease burden and related low quality of life. Here we investigated the changes of diagnostic delay over the diagnostic years (1990–2018) and the factors associated with the delay in Europe. Patients and Methods We analyzed 580 NT1 patients (male: 325, female: 255) from 12 European countries using the European Narcolepsy Network database. We combined machine learning and linear mixed-effect regression to identify factors associated with the delay. Results The mean age at EDS onset and diagnosis of our patients was 20.9±11.8 (mean ± standard deviation) and 30.5±14.9 years old, respectively. Their mean and median diagnostic delay was 9.7±11.5 and 5.3 (interquartile range: 1.7−13.2 years) years, respectively. We did not find significant differences in the diagnostic delay over years in either the whole dataset or in individual countries, although the delay showed significant differences in various countries. The number of patients with short (≤2-year) and long (≥13-year) diagnostic delay equally increased over decades, suggesting that subgroups of NT1 patients with variable disease progression may co-exist. Younger age at cataplexy onset, longer interval between EDS and cataplexy onsets, lower cataplexy frequency, shorter duration of irresistible daytime sleep, lower daytime REM sleep propensity, and being female are associated with longer diagnostic delay. Conclusion Our findings contrast the results of previous studies reporting shorter delay over time which is confounded by calendar year, because they characterized the changes in diagnostic delay over the symptom onset year. Our study indicates that new strategies such as increasing media attention/awareness and developing new biomarkers are needed to better detect EDS, cataplexy, and changes of nocturnal sleep in narcolepsy, in order to shorten the diagnostic interval.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Idling for Decades: A European Study on Risk Factors Associated with the Delay Before a Narcolepsy Diagnosis

Zhang¹,

Dauvilliers²,

Plazzi³

et al. 2022

NSS

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“…Narcolepsy is a rare chronic condition, and disease burden is worsened by diagnostic delay, emphasizing the need to recognize the unusual clinical and neuropsychiatric symptoms associated with NT1. 10 Indeed, all patients in our case series met the diagnostic criteria for NT1 and presented with some peculiar behavioral and motor manifestations that have been included as red flags for early NT1 recognition by a recent consensus. 11 Patient 1 showed the worst clinical course, with inadequate therapy response leading to a severe limitation in daily activities.…”

Section: Discussionmentioning

confidence: 76%

Child Neurology: A Case Series of Heterogeneous Neuropsychiatric Symptoms and Outcome in Very Early-Onset Narcolepsy Type 1

et al. 2022

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Narcolepsy type 1 is a central disorder of hypersomnolence characterized by excessive daytime sleepiness, cataplexy (i.e., sudden loss of muscle tone during wakefulness triggered by emotions), and rapid eye movement sleep-related manifestations that can present with a peculiar phenotype when arising at a pediatric age. Several features of childhood-onset narcolepsy type 1 are also common in neuropsychiatric conditions; discrete neuropsychiatric comorbidity has also been demonstrated.Here we report on three children with very early narcolepsy type 1. All three patients had psychiatric features at time of symptom onset coupled with peculiar motor disturbances. The course of narcolepsy symptoms also paralleled neuropsychiatric symptoms, suggesting a possible intrinsic link between sleep and psychological features.Multidisciplinary management is mandatory for pediatric narcolepsy type 1 since prompt disease management addressing neuropsychiatric symptoms could lead to better clinical outcomes and quality of life.

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“…Patients in our systematic review were all diagnosed before the age of 20 years but underwent PSG between 12.4 and 40.5 years of age. The study population is therefore heterogenous with respect to age, and different sleep disorders are prevalent in different age groups just as one sleep disorder may change across the life span (Lividini et al, 2021 ). Importantly, PSG was scored in relation to age (Berry et al, 2012 ).…”

Section: Discussionmentioning

confidence: 99%

Systematic Review: Sleep Disorders Based on Objective Data in Children and Adolescents Treated for a Brain Tumor

et al. 2022

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BackgroundTumors of the central nervous system (CNS) are the most common solid childhood malignancy. Over the last decades, treatment developments have strongly contributed to the improved overall 5-year survival rate, which is now approaching 75%. However, children now face significant long-term morbidity with late-effects including sleep disorders that may have detrimental impact on everyday functioning and quality of life. The aims of this study were to (1) describe the symptoms that lead to polysomnographic evaluation; (2) describe the nature of sleep disorders diagnosed in survivors of childhood CNS tumor using polysomnography (PSG); and (3) explore the association between tumor location and diagnosed sleep disorder.MethodsAn extensive literature search following the Preferred Reporting Items for Systematic Review and Meta-Analysis guidelines (PRISMA) was conducted. Inclusion criteria were children and adolescents diagnosed with a CNS tumor age <20 years having a PSG performed after end of tumor treatment. The primary outcome was sleep disorder confirmed by PSG.ResultsOf the 1,658 studies identified, 11 met the inclusion criteria. All the included articles were appraised for quality and included in the analysis. Analyses indicated that sleep disorders commonly occur among childhood CNS tumor survivors. Symptoms prior to referral for PSG were excessive daytime sleepiness (EDS), fatigue, irregular breathing during sleep and snoring. The most common sleep disorders diagnosed were sleep-related breathing disorders (i.e., obstructive sleep apnea) and central disorders of hypersomnolence (i.e., narcolepsy).ConclusionOur findings point to the potential benefit of systematically registering sleep disorder symptoms among CNS tumor patients together with tumor type and treatment information, so that at-risk patients can be identified early. Moreover, future rigorous and larger scale controlled observational studies that include possible modifiable confounders of sleep disorders such as fatigue and obesity are warranted.Clinical Trial Registrationhttps://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42021243866, identifier [CRD42021243866].

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Narcolepsy type 1 features across the life span: age impact on clinical and polysomnographic phenotype

Cited by 15 publications

References 50 publications

Idling for Decades: A European Study on Risk Factors Associated with the Delay Before a Narcolepsy Diagnosis

Idling for Decades: A European Study on Risk Factors Associated with the Delay Before a Narcolepsy Diagnosis

Child Neurology: A Case Series of Heterogeneous Neuropsychiatric Symptoms and Outcome in Very Early-Onset Narcolepsy Type 1

Systematic Review: Sleep Disorders Based on Objective Data in Children and Adolescents Treated for a Brain Tumor

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