Cataplexy features in childhood narcolepsy

Serra, Leonardo; Montagna, Pasquale; Mignot, Emmanuel; Lugaresi, E; Plazzi, Giuseppe

doi:10.1002/mds.21965

Cited by 148 publications

(94 citation statements)

References 32 publications

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“…It is also notable that the large majority of the children identified in this study (76%) had onset prior to puberty. This profile contrasts with reports of children from the United States 17,18 and Europe, [19][20][21] where mean age of onset ranges from 9.4-10.3 years old in case series of children, and where the majority of children have onset at or following puberty and rarely prior to 5 years old. [18][19][20][21][22] Referral bias could explain this significantly earlier onset.…”

Section: Group Stratificationcontrasting

confidence: 86%

Presentations of Primary Hypersomnia in Chinese Children

Han

et al. 2011

Sleep

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627Childhood Narcolepsy/Hypersomnia-Han et al on the pediatric population could help address issues related to puberty, genetic predisposition, and environmental triggers, and possibly shed light on factors that might delay diagnosis. We report on findings from a pediatric cohort of patients who presented with primary hypersomnia to a sleep clinic in Beijing, China over a period of ~10 years. All were evaluated in a standard fashion and classified as narcolepsy with or without cataplexy or idiopathic hypersomnia. Our purpose was to describe age of onset and clinical features of primary hypersomnia among a mainland Chinese cohort of children, and to compare the findings to the literature. METHODS PatientsPatients were children, defined as < 18 years of age, successively presenting with hypersomnia seen over a period of ~10 years (September, 1998 to May, 2009) at People's Hospital, Beijing University, Beijing. A total of 417 children (63%) were drawn from a population of 671 adults and children with hypersomnia. The hospital has a pulmonary medicine departmentbased sleep center, which sees both children and adults, and receives referrals from all of mainland China. It is estimated that 70% of the diagnosed narcolepsy patients in mainland China are seen at this center at People's Hospitals.12 A prior report focused on the impact of a narcolepsy recognition strategy in a pediatric neurology clinic, 13 whereas this report retrospectively describes a cohort with a broader symptom profile, evaluated using a stan- INTRODUCTIONNarcolepsy-cataplexy (NC) occurs worldwide. In China, there is a population prevalence of 0.034% in patients in South China presenting to sleep centers in Hong Kong 1,2 and a prevalence of 0.014% in Korean adolescents with similar clinical and biological presentations.3-5 Studies in North America and Europe estimates are similar. As the origin and mechanisms that produce narcolepsy are not well understood, comparisons of clinical presentations in collections of several characterized patient groups can inform future studies of clinical and genetic epidemiology.Narcolepsy-cataplexy is said to present in the second to third decade of life, with 70% to 80% of patients reporting onset between 10-20 years of age. Large sample size observations from the United States, Canada, Europe, and Japan report that half of adult patients with narcolepsy report narcolepsy onset prior to 15 years old, and only exceptionally at 5 or younger.6-9 Studies in the 1980s-1990s reported a median delay > 10 years between onset and diagnosis, 10 whereas a more recent report suggests the delay can be only a few years, particularly in children.11 A focus Objective: To retrospectively describe childhood presentations of primary hypersomnia with an emphasis on narcolepsy-cataplexy in a Chinese population. Methods: A total of 417 children (< 18 years old) successively presenting with complaints of hypersomnia without anatomic cause or sleep apnea risk were evaluated using the Stanford Sleep Inventory, human leukocyte antigen (HLA) ...

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Section: Group Stratificationcontrasting

confidence: 86%

Presentations of Primary Hypersomnia in Chinese Children

Han

et al. 2011

Sleep

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“…Excessive daytime sleepiness in children can manifest as attentional problems, externalizing behaviors (such as hyperactivity), and/or emotional lability, 24,25 leading to possible misdiagnosis of primary attention deficit hyperactivity disorder or other psychopathology. Children with narcolepsy type 1 can also present with atypical cataplexy with static appearance of hypotonia, ptosis, and/or jaw slackening and dyskinetic movements 7 that may be mistaken for other neurological disorders. Last, given the epidemic of insufficient sleep among otherwise healthy adolescents, 26,27 health care providers may incorrectly ascribe daytime sleepiness to insufficient sleep syndrome and not consider central nervous system etiologies.…”

Section: Discussionmentioning

confidence: 99%

“…Children/adolescents with narcolepsy may not be able to articulate disease symptoms as well as adults and are often reliant on external sources, such as parents and teachers, to note problematic sleepiness. Furthermore, pediatric patients with narcolepsy can have atypical forms of cataplexy, including cataplectic facies and positive motor movements similar to dyskinesias, 7,8 Furthermore, health care providers and researchers tend to focus on assessments of core narcolepsy symptoms to determine treatment efficacy but it is not clear if these are the symptoms of most importance to patients for daily functioning. Study Impact: This phenomenological study provides novel data on narcolepsy disease experience that informs these gaps in the literature.…”

Section: Introductionmentioning

confidence: 99%

Listening to the Patient Voice in Narcolepsy: Diagnostic Delay, Disease Burden, and Treatment Efficacy

Maski

Steinhart

Williams

et al. 2017

Journal of Clinical Sleep Medicine

111

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Study Objectives: Describe common symptoms, comorbidities, functional limitations, and treatment responsiveness among patients with narcolepsy. Investigate the effect of pediatric onset of narcolepsy symptoms on time to diagnosis of narcolepsy and presence of comorbid depression. Methods: Cross-sectional survey of 1,699 people in the United States with self-reported diagnosis of narcolepsy. We utilized mixed-methods data analyses to report study findings. Results: Most participants reported receiving a diagnosis of narcolepsy more than 1 y after symptom onset. We found that the strongest predictor of this delayed diagnosis was pediatric onset of symptoms (odds ratio = 2.4, p < 0.0005). Depression was the most common comorbidity but we detected no association with pediatric onset of narcolepsy symptoms. Overall, participants reported that fatigue and cognitive difficulties were their most burdensome symptoms in addition to sleepiness and cataplexy. The majority of participants reported residual daytime fatigue and/or sleepiness despite treatment. Most participants reported they could not perform at work or school as well as they would like because of narcolepsy symptoms. Conclusions: This study provides unique insight into the narcolepsy disease experience. The study quantifies the problem of diagnostic delay for narcolepsy patients in the United States and highlights that symptoms are more likely to be missed if they develop before 18 y of age. These results suggest that narcolepsy awareness efforts should be aimed at parents, pediatric health care providers, school professionals, and children/adolescents themselves. Disease burden is high because of problems with fatigue, cognition, and persistence of residual symptoms despite treatment.

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“…Cataplexy, which is a unique and characteristic feature of narcolepsy, may only appear many years after the development of EDS. It has been estimated that delays between the onset of symptoms and the diagnosis of narcolepsy can range from 10-15 years [6]. Individuals with narcolepsy display a great deal of variation in their presentation and this can lead to misinterpretations of symptoms and misdiagnosis.…”

Section: Introductionmentioning

confidence: 99%

A systematic review of cognitive function and psychosocial well-being in school-age children with narcolepsy

Blackwell

Alammar

Weighall

et al. 2017

Sleep Medicine Reviews

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Shortened version of the title for use in running heads:Cognitive function and psychosocial well-being in children with narcolepsy. Conflicts of interestThe authors have no conflicts of interest to declare pertaining to this review. AcknowledgementsThe review was conducted as part of Miss Jane Blackwell's PhD that is funded by a University of Leeds Anniversary Research Scholarship. Miss Hetaf Alammar's PhD is funded by Shaqra University, Saudi Arabia. SUMMARYIn August 2010, concerns were raised about an increase in the incidence rate of narcolepsy diagnosis in children and adolescents. Narcolepsy is a chronic neurological sleep disorder characterised by excessive daytime sleepiness and attacks of muscle weakness which are often precipitated by strong emotions, known as cataplexy. We systematically examined and updated the scientific literature on the consequences of narcolepsy on cognitive function and psychosocial well-being in school-age children. Eight studies published between 2005 and 2015 were eligible for inclusion in this review. Collectively the results provide evidence to suggest that children who develop narcolepsy are at significant risk of cognitive impairment in at least one domain and emotional problems including depression, anxiety and low selfesteem. Children with narcolepsy should be monitored carefully in order to manage and reduce the impact of any impairments present. The existing literature is limited by small sample sizes, lack of appropriate controls and lack of longitudinal data. Future research should aim to address the limitations of the current work and aim to determine the underlying cause of cognitive and psychological impairments. This will enable the design of effective interventions to support children with narcolepsy so that they are able to achieve their full potential.

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Cataplexy features in childhood narcolepsy

Cited by 148 publications

References 32 publications

Presentations of Primary Hypersomnia in Chinese Children

Presentations of Primary Hypersomnia in Chinese Children

Listening to the Patient Voice in Narcolepsy: Diagnostic Delay, Disease Burden, and Treatment Efficacy

A systematic review of cognitive function and psychosocial well-being in school-age children with narcolepsy

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