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      Challenges in Diagnosing Narcolepsy and Idiopathic Hypersomnia

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      https://www.riss.kr/link?id=A108531219

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      다국어 초록 (Multilingual Abstract)

      Narcolepsy and idiopathic hypersomnia are central disorders of hypersomnolence accompanied by excessive daytime sleepiness, which are not caused by nocturnal sleep disturbance, sleep deficiency, or circadian rhythm sleep disorders. Several studies have questioned the repeatability of the Multiple Sleep Latency Test (MSLT) in type 2 narcolepsy (NT2) patients. After two or more repeated MSLTs, the diagnosis of type 1 narcolepsy (NT1) is maintained in more than 90% of cases, while only half of the NT2 patients retain their original diagnosis. The diagnosis of NT2 may shift to idiopathic hypersomnia based on the MSLT results, making the differential diagnosis of NT2 and idiopathic hypersomnia particularly challenging. Therefore, this study suggests the need for new tests in addition to the MSLT for diagnostic consistency in NT2 and idiopathic hypersomnia.
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      Narcolepsy and idiopathic hypersomnia are central disorders of hypersomnolence accompanied by excessive daytime sleepiness, which are not caused by nocturnal sleep disturbance, sleep deficiency, or circadian rhythm sleep disorders. Several studies hav...

      Narcolepsy and idiopathic hypersomnia are central disorders of hypersomnolence accompanied by excessive daytime sleepiness, which are not caused by nocturnal sleep disturbance, sleep deficiency, or circadian rhythm sleep disorders. Several studies have questioned the repeatability of the Multiple Sleep Latency Test (MSLT) in type 2 narcolepsy (NT2) patients. After two or more repeated MSLTs, the diagnosis of type 1 narcolepsy (NT1) is maintained in more than 90% of cases, while only half of the NT2 patients retain their original diagnosis. The diagnosis of NT2 may shift to idiopathic hypersomnia based on the MSLT results, making the differential diagnosis of NT2 and idiopathic hypersomnia particularly challenging. Therefore, this study suggests the need for new tests in addition to the MSLT for diagnostic consistency in NT2 and idiopathic hypersomnia.

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      참고문헌 (Reference)

      1 한선정 ; 주은연 ; 조재욱 ; 홍승봉, "기면증 환자의 진단에서 반복적 다중수면잠복기검사의 유용성" 대한수면연구학회 5 (5): 39-42, 2008

      2 성민재 ; 최수정 ; 홍승봉 ; 주은연, "기면병 환자에서 다중수면잠복기검사의 검사-재검사 신뢰도 검증" 대한수면연구학회 17 (17): 175-180, 2020

      3 Pizza F, "Validation of multiple sleep latency test for the diagnosis of pediatric narcolepsy type 1" 93 : e1034-e1044, 2019

      4 Bassetti C, "The narcoleptic borderland : a multimodal diagnostic approach including cerebrospinal fluid levels of hypocretin-1(orexin A)" 4 : 7-12, 2003

      5 Chen L, "The familial risk and HLA susceptibility among narcolepsy patients in Hong Kong Chinese" 30 : 851-858, 2007

      6 Ruoff C, "The MSLT is repeatable in narcolepsy type 1 but not narcolepsy type 2 : a retrospective patient study" 14 : 65-74, 2018

      7 Lopez R, "Test–retest reliability of the multiple sleep latency test in central disorders of hypersomnolence" 40 : zsx164-, 2017

      8 Kwon Y, "Test-retest reliability of two consecutive mean sleep latency tests in patients with hypersomnia" 15 : 337-339, 2017

      9 Trotti LM, "Test-retest reliability of the multiple sleep latency test in narcolepsy without cataplexy and idiopathic hypersomnia" 9 : 789-795, 2013

      10 Zwyghuizen-Doorenbos A, "Test-retest reliability of the MSLT" 11 : 562-565, 1988

      1 한선정 ; 주은연 ; 조재욱 ; 홍승봉, "기면증 환자의 진단에서 반복적 다중수면잠복기검사의 유용성" 대한수면연구학회 5 (5): 39-42, 2008

      2 성민재 ; 최수정 ; 홍승봉 ; 주은연, "기면병 환자에서 다중수면잠복기검사의 검사-재검사 신뢰도 검증" 대한수면연구학회 17 (17): 175-180, 2020

      3 Pizza F, "Validation of multiple sleep latency test for the diagnosis of pediatric narcolepsy type 1" 93 : e1034-e1044, 2019

      4 Bassetti C, "The narcoleptic borderland : a multimodal diagnostic approach including cerebrospinal fluid levels of hypocretin-1(orexin A)" 4 : 7-12, 2003

      5 Chen L, "The familial risk and HLA susceptibility among narcolepsy patients in Hong Kong Chinese" 30 : 851-858, 2007

      6 Ruoff C, "The MSLT is repeatable in narcolepsy type 1 but not narcolepsy type 2 : a retrospective patient study" 14 : 65-74, 2018

      7 Lopez R, "Test–retest reliability of the multiple sleep latency test in central disorders of hypersomnolence" 40 : zsx164-, 2017

      8 Kwon Y, "Test-retest reliability of two consecutive mean sleep latency tests in patients with hypersomnia" 15 : 337-339, 2017

      9 Trotti LM, "Test-retest reliability of the multiple sleep latency test in narcolepsy without cataplexy and idiopathic hypersomnia" 9 : 789-795, 2013

      10 Zwyghuizen-Doorenbos A, "Test-retest reliability of the MSLT" 11 : 562-565, 1988

      11 Drake CL, "Scoring reliability of the multiple sleep latency test in a clinical population" 23 : 911-913, 2000

      12 Büchele F, "Remitting narcolepsy? Longitudinal observations in a hypocretin-deficient cohort" 41 : zsy118-, 2018

      13 Nakamura M, "Relationship between clinical characteristics of narcolepsy and CSF orexin-A levels" 20 (20): 45-49, 2011

      14 Andlauer O, "Predictors of hypocretin(orexin)deficiency in narcolepsy without cataplexy" 35 : 1247-1255, 2012

      15 Andlauer O, "Nocturnal rapid eye movement sleep latency for identifying patients with narcolepsy/hypocretin deficiency" 70 : 891-902, 2013

      16 Bassetti CLA, "Narcolepsy—clinical spectrum, aetiopathophysiology, diagnosis and treatment" 15 : 519-539, 2019

      17 Baumann CR, "Narcolepsy: pathophysiology, diagnosis, and treatment" Springer Science & Business Media 2011

      18 Zhang M, "Narcolepsy with cataplexy : does age at diagnosis change the clinical picture?" 26 : 1092-1102, 2020

      19 Dauvilliers Y, "Narcolepsy with cataplexy" 369 : 499-511, 2007

      20 Goldbart A, "Narcolepsy and predictors of positive MSLTs in the Wisconsin Sleep Cohort" 37 : 1043-1051, 2014

      21 Roth B, "Narcolepsy and hypersomnia" Karger 1980

      22 Huang YS, "Multiple sleep latency test in narcolepsy type 1 and narcolepsy type 2 : a 5-year follow-up study" 27 : e12700-, 2018

      23 Dietmann A, "Multiple sleep latency test and polysomnography in patients with central disorders of hypersomnolence" 79 : 6-10, 2021

      24 Roehrs TA, "MSLT in primary insomnia : stability and relation to nocturnal sleep" 34 : 1647-1652, 2011

      25 Chen L, "Interrater and intrarater reliability in multiple sleep latency test" 25 : 218-221, 2008

      26 American Academy of Sleep Medicine, "International classification of sleep disorders (ICSD-3)" American Academy of Sleep Medicine 2014

      27 Anderson KN, "Idiopathic hypersomnia : a study of 77 cases" 30 : 1274-1281, 2007

      28 Mignot E, "Excessive daytime sleepiness : population and etiology versus nosology" 12 : 87-94, 2008

      29 Pizza F, "Different sleep onset criteria at the multiple sleep latency test(MSLT) : an additional marker to differentiate central nervous system(CNS)hypersomnias" 20 (20): 250-256, 2011

      30 Hong-Shik Chun ; Sung-Min Kim ; Tae-Won Kim ; Yoo Hyun Um ; Jong-Hyun Jeong ; Ho-Jun Seo ; Seung-Chul Hong, "Different Course of Narcolepsy Diagnosed by Multiple Sleep Latency Test: A Single Center Experience" 대한수면학회 13 (13): 153-157, 2022

      31 Amira SA, "Diagnosis of narcolepsy using the multiple sleep latency test : analysis of current laboratory criteria" 8 : 325-331, 1985

      32 Huang YS, "Daytime sleepiness with and without cataplexy in Chinese-Taiwanese patients" 7 : 454-457, 2006

      33 Pizza F, "Daytime continuous polysomnography predicts MSLT results in hypersomnias of central origin" 22 : 32-40, 2013

      34 Baumann CR, "Challenges in diagnosing narcolepsy without cataplexy : a consensus statement" 37 : 1035-1042, 2014

      35 Dauvilliers Y, "Cataplexy--clinical aspects, pathophysiology and management strategy" 10 : 386-395, 2014

      36 Dauvilliers Y, "CSF hypocretin-1 levels in narcolepsy, Kleine-Levin syndrome, and other hypersomnias and neurological conditions" 74 : 1667-1673, 2003

      37 Heier MS, "CSF hypocretin-1 levels and clinical profiles in narcolepsy and idiopathic CNS hypersomnia in Norway" 30 : 969-973, 2007

      38 Coelho FM, "Benefit of repeat multiple sleep latency testing in confirming a possible narcolepsy diagnosis" 28 : 412-414, 2011

      39 Lavault S, "Benefit and risk of modafinil in idiopathic hypersomnia vs. narcolepsy with cataplexy" 12 : 550-556, 2011

      40 Bonnet MH, "ACNS clinical controversy : MSLT and MWT have limited clinical utility" 23 : 50-58, 2006

      41 Hong SC, "A study of the diagnostic utility of HLA typing, CSF hypocretin-1 measurements, and MSLT testing for the diagnosis of narcolepsy in 163 Korean patients with unexplained excessive daytime sleepiness" 29 : 1429-1438, 2006

      42 Almeneessier AS, "A 10-year longitudinal observational study of cataplexy in a cohort of narcolepsy type 1 patients" 11 : 231-239, 2019

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