Narcolepsy in Southern Chinese patients: clinical characteristics, HLA typing and seasonality of birth

Wing, Yun Kwok; Chen, L; Fong, SW; Ng, Margaret H.L.; Ho, Crover Kwok Wah; Cheng, Suk‐Hang; Tang, Nelson L.S.; Li, A M

doi:10.1136/jnnp.2007.143420

Cited by 27 publications

(17 citation statements)

References 40 publications

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“…This is in comparison to adults, who may have greater compensatory mechanisms (e.g., drinking caffeinated beverages). In a study conducted in South China, N+C was found to have a bimodal distribution, with the first peak at age 11 coinciding with that found in our review, and the second peak at age 39 95 . However, in the N-C group only one peak at about age nine years was found 95 .…”

Section: Resultssupporting

confidence: 85%

Narcolepsy With or Without Cataplexy In The Pediatric Population: A Systematic Review

Nazir¹,

Bennett

Sedky

2018

JSDR

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Study Objectives: Narcolepsy diagnosis has been associated with a long lag time between the onset of the disorder and the diagnosis itself among patients with the disorder. This article reviews the childhood epidemiology of idiopathic narcolepsy, including its prevalence, subtypes, and disease progression.Methods: A literature review was conducted to include both published and unpublished data on pediatric narcolepsy. All English language articles were included through April, 2015.Results: Time from symptom onset to diagnosis for children is approximately three years. The prevalence of cataplexy appears to be lower in children compared to adults, suggesting a later onset of cataplexy. The presence of cataplexy, however, was unrelated to demographic factors and laboratory findings.Conclusion: There is a substantial lag-time between initial symptom presentation and diagnosis in children with narcolepsy. A less quintessential presentation of narcolepsy might occur in children relative to adults, making diagnosis more challenging. Continued improvements in narcolepsy education for both pediatricians and parents might facilitate earlier identification and diagnosis of the disease, thus leading to improved outcome.

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Section: Resultssupporting

confidence: 85%

Narcolepsy With or Without Cataplexy In The Pediatric Population: A Systematic Review

Nazir¹,

Bennett

Sedky

2018

JSDR

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“…21,22 We observed a peak in symptom presentation during the age period of 10-15 years with diminishing frequency with age and a second slight increase in presentation between the ages of 35 and 40 years. We did not observe a gender difference in the bimodal character of age at which symptoms presented, and therefore could not explain its contribution to the observed gender difference in time to diagnosis.…”

Section: Menmentioning

confidence: 67%

The Impact of Gender on Timeliness of Narcolepsy Diagnosis

Won

Mahmoudi

Qin

et al. 2014

Journal of Clinical Sleep Medicine

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the Yale Center of Sleep Medicine. All patients completed polysomnography (PSG) and multiple sleep latency test (MSLT), and a structured interview by an independent sleep specialist. Patients were administered a standardized 8-page questionnaire within 4 weeks of their narcolepsy diagnosis. Sixteen patients did not complete the questionnaire or had missing data, and were excluded. The study was approved by the Yale Institutional Review Board. QuestionnaireThe standardized questionnaire, in addition to other sleep disorder symptoms, sleep history and habits, current medications, and social, psychological, psychiatric, surgical, and Study Objectives: To examine the impact of gender in narcoleptic patients on timeliness of diagnosis, symptomology, and health and lifestyle impairment Methods: This is a cross-sectional study of 109 consecutive patients (68 women) with newly diagnosed narcolepsy with and without cataplexy, from a University sleep disorders center. Consecutive patients were administered an 8-page questionnaire at the time of their diagnosis regarding sleep habits, medications, and medical conditions, lifestyle impairments, as well as details regarding narcolepsy-related symptoms. Results: Men and women presented with remarkably similar narcolepsy related symptoms, yet women were more likely to be delayed in diagnosis; 85% of men were likely to be diagnosed by 16 years after symptom onset, compared to 28 years in women. More women were likely to remain undiagnosed at any given time point after symptom onset (hazard ratio for diagnosis of men compared to women 1.53; 95% CI 1.01-2.32; p = 0.04). Men and women reported similar degree of subjective sleepiness as measured by the Epworth Sleepiness Scale (mean 16.2 ± 4.5; p = 0.18), though women demonstrated signifi cantly more severe objective sleepiness on multiple sleep latency testing (MSLT) (mean sleep latency in women = 5.4 min (± 4.1), in men 7.4 min (± 3.5); p = 0.03). Despite being more objectively sleepy, women were less likely to report lifestyle impairments in the areas of personal relationships (71% men, 44% women, p = 0.01) and physical activity (36% men, 16% women, p = 0.02), but were also more likely to self-medicate with caffeine (63.4% men, 82.4% women; p = 0.03). Conclusions: Narcolepsy impacts men and women's health and lifestyle differently, and may cause delays diagnosis for women. Keywords: Narcolepsy, gender, sex, sleep, hypersomnia, diagnosis, women S C I E N T I F I C I N V E S T I G A T I O N SS leep disorders affect women and men differently. This is well described, for example, in sleep disordered breathing, insomnia, and restless leg syndrome. In these common sleep disorders, there are notable sex differences in disease prevalence, manifestation, health effects, and social consequences, 1-9 as well as sex-related discrepancies in diagnosis and health care delivery. 10 There is some evidence from animal models and genetic studies to suggest sex differences in the susceptibility and manifestation of narcolepsy.11-13 However, sex d...

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“…As most local Chinese patients were reluctant to undergo lumbar punctures, there were limited data available on CSF hypocretin-1. 3 In our previous family study, we identified a group of relatives with narcoleptic spectrum (unaffected) who had one or more SOREMPs on MSLT but did not fulfil the diagnostic criteria of narcolepsy. 3,14,15 Another group of relatives who were diagnosed with narcolepsy (affected) were included into the 2 narcoleptic groups.…”

Section: Study Design and Subject Recruitmentmentioning

confidence: 99%

“…Those cases who had clinical follow-up assessments of NPSG and MSLT were included in the second part of the study. All the subjects had signed relevant informed consents of the respective studies, 3,14,15 which were approved by the institutional ethics committee.…”

Section: Study Design and Subject Recruitmentmentioning

confidence: 99%

“…However, CSF hypocretin remains a less ideal option in clinical practice, as lumbar puncture is an invasive procedure that entails a degree of risk and potential side effects (e.g., headache), and the majority of patients in some Asian countries are reluctant to undergo this diagnostic testing. 3 Thus, multiple sleep latency test (MSLT) remains essential for making a diagnosis of narcolepsy. Mean sleep latency (MSL) ≤ 8 minutes and the presence of two or more sleep onset REM periods (SOREMPs) on daytime MSLT and nocturnal polysomnography (NPSG) are considered diagnostic for narcolepsy according to the International Classifi cation of Sleep Disorders, third edition (ICSD-3).…”

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confidence: 99%

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Altered Sleep Stage Transitions of REM Sleep: A Novel and Stable Biomarker of Narcolepsy

Liu

Lam

et al. 2015

Journal of Clinical Sleep Medicine

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EDS, such as obstructive sleep apnea syndrome (OSAS), 5,6 behaviorally induced insuffi cient sleep syndrome (BIISS), 7 and sleep interruption, 8 can also show similar diagnostic features of narcolepsy on MSLT. It was found that 3.9% to 17% of the general population had multiple SOREMPs, 9,10 and 3.6% could meet the MSLT diagnostic criteria of narcolepsy.11 In other words, the MSLT criteria of ICSD-3 would likely give rise to a high false positive rate in diagnosing narcolepsy. BRIEF SUMMARYCurrent Knowledge/Study Rationale: Recent data suggested that altered sleep stage transition of REM sleep might be able to differentiate narcolepsy from other hypersomnias, but its longitudinal stability and association with HLA typing are unclear. Study Impact: Altered sleep stage transition from stage non-N2/N3 to stage R has good sensitivity and specifi city in diagnosing narcolepsy especially with the help of additional sleep variables in the decision tree analysis, which suggests its clinical utility in the differential diagnosis of hypersomnias. The longitudinal stability and association with HLA DBQ1*0602 further demonstrates that altered sleep stage transition is a trait marker of the instability of NREM-REM sleep regulation in narcolepsy.Objectives: To determine the diagnostic values, longitudinal stability, and HLA association of the sleep stage transitions in narcolepsy. Methods: To compare the baseline differences in the sleep stage transition to REM sleep among 35 patients with type 1 narcolepsy, 39 patients with type 2 narcolepsy, 26 unaffected relatives, and 159 non-narcoleptic sleep patient controls, followed by a reassessment at a mean duration of 37.4 months. Results:The highest prevalence of altered transition from stage non-N2/N3 to stage R in multiple sleep latency test (MSLT) and nocturnal polysomnography (NPSG) was found in patients with type 1 narcolepsy (92.0% and 57.1%), followed by patients with type 2 narcolepsy (69.4% and 12.8%), unaffected relatives (46.2% and 0%), and controls (39.3% and 1.3%). Individual sleep variables had varied sensitivity and specifi city in diagnosing narcolepsy. By incorporating a combination of sleep variables, the decision tree analysis improved the sensitivity to 94.3% and 82.1% and enhanced specifi city to 82.4% and 83% for the diagnosis of type 1 and type 2 narcolepsy, respectively. There was a signifi cant association of DBQ1*0602 with the altered sleep stage transition (OR = 16.0, 95% CI: 1.7-149.8, p = 0.015).

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Narcolepsy in Southern Chinese patients: clinical characteristics, HLA typing and seasonality of birth

Abstract: In our Southern Chinese narcolepsy series, bi-modal peak pattern of age of onset, excess winter birth and tight association of HLA DQB1*0602 with cataplectic narcolepsy were found.

Cited by 27 publications

References 40 publications

Narcolepsy With or Without Cataplexy In The Pediatric Population: A Systematic Review

Narcolepsy With or Without Cataplexy In The Pediatric Population: A Systematic Review

The Impact of Gender on Timeliness of Narcolepsy Diagnosis

Altered Sleep Stage Transitions of REM Sleep: A Novel and Stable Biomarker of Narcolepsy

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