Benefit of Repeat Multiple Sleep Latency Testing in Confirming a Possible Narcolepsy Diagnosis

Coelho, Fernando Morgadinho Santos; Georgsson, Hlynur; Murray, Brian J.

doi:10.1097/wnp.0b013e31822734a3

Cited by 18 publications

(4 citation statements)

References 15 publications

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“…Since IH can be clinically distinguished from narcolepsy without cataplexy [5] – [7] there is still a lack of normative data and a standardized procedure to classify the complex symptoms of IH concerning fatigue, decreased alertness, sleep pressure, depressive and mental co-morbidities and variations of circadian chronotypes. Up to now little is known to what extend the disturbance of the sleep-wake rhythm in IH is based on an altered interaction of environmental factors and possible genetic factors, namely the CLOCK genes.…”

Section: Introductionmentioning

confidence: 99%

Altered Dynamics in the Circadian Oscillation of Clock Genes in Dermal Fibroblasts of Patients Suffering from Idiopathic Hypersomnia

et al. 2014

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From single cell organisms to the most complex life forms, the 24-hour circadian rhythm is important for numerous aspects of physiology and behavior such as daily periodic fluctuations in body temperature and sleep-wake cycles. Influenced by environmental cues – mainly by light input -, the central pacemaker in the thalamic suprachiasmatic nuclei (SCN) controls and regulates the internal clock mechanisms which are present in peripheral tissues. In order to correlate modifications in the molecular mechanisms of circadian rhythm with the pathophysiology of idiopathic hypersomnia, this study aimed to investigate the dynamics of the expression of circadian clock genes in dermal fibroblasts of idiopathic hypersomniacs (IH) in comparison to those of healthy controls (HC). Ten clinically and polysomnographically proven IH patients were recruited from the department of sleep medicine of the University Hospital of Muenster. Clinical diagnosis was done by two consecutive polysomnographies (PSG) and Multiple Sleep Latency Test (MSLT). Fourteen clinical healthy volunteers served as control group. Dermal fibroblasts were obtained via punch biopsy and grown in cell culture. The expression of circadian clock genes was investigated by semiquantitative Reverse Transcriptase-PCR qRT-PCR analysis, confirming periodical oscillation of expression of the core circadian clock genes BMAL1, PER1/2 and CRY1/2. The amplitude of the rhythmically expressed BMAL1, PER1 and PER2 was significantly dampened in dermal fibroblasts of IH compared to HC over two circadian periods whereas the overall expression of only the key transcriptional factor BMAL1 was significantly reduced in IH. Our study suggests for the first time an aberrant dynamics in the circadian clock in IH. These findings may serve to better understand some clinical features of the pathophysiology in sleep – wake rhythms in IH.

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Section: Introductionmentioning

confidence: 99%

Altered Dynamics in the Circadian Oscillation of Clock Genes in Dermal Fibroblasts of Patients Suffering from Idiopathic Hypersomnia

et al. 2014

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“…The second MSLT diagnostic criterion is the presence of two or more sleep-onset REM periods (SOREMPs) [American Academy of Sleep Medicine, 2005a]. The MSLT can fail to document both narcolepsy criteria and if repeated the probability to confirm the diagnosis is high enough [Coelho et al 2011]. Night sleep is disturbed by PLMS and REM sleep behavior disorder.…”

Section: Narcolepsymentioning

confidence: 99%

Diagnosis and management of central hypersomnias

Šonka

Susta

2012

Ther Adv Neurol Disord

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Central hypersomnias are diseases manifested in excessive daytime sleepiness (EDS) not caused by disturbed nocturnal sleep or misaligned circadian rhythms. Central hypersomnias includes narcolepsy with and without cataplexy, recurrent hypersomnia, idiopathic hypersomnia, with and without long sleep time, behaviorally induced insufficient sleep syndrome, hypersomnia and narcolepsy due to medical conditions, and finally hypersomnia induced by substance intake. The Epworth Sleepiness Scale is a subjective tool mostly used for EDS assessment, while the Multiple Sleep Latency Test serves as an objective diagnostic method for narcolepsy and idiopathic hypersomnias. As for symptomatic therapy of EDS, the central nervous system stimulants modafinil and methylphenidate seem to work well in most cases and in narcolepsy and Parkinson's disease; sodium oxybate also has notable therapeutic value.

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“…Because measuring hypocretin levels is too invasive and of limited use, diagnosing narcolepsy mainly relies on the Multiple Sleep Latency Test (MSLT) [23][24][25][26]. The diagnostic criteria for NT1 and NT2 are the same for the MSLT, with a mean sleep latency of ≤ 8 minutes and ≥ 2 sleep-onset rapid eye movement (SOREM) episodes, while that of idiopathic hypersomnia varies by a sleep latency of ≤ 8 minutes but with ≤ 1 SOREM episodes [4,19,24,25,[27][28][29][30][31][32].…”

Section: Introductionmentioning

confidence: 99%

Challenges in Diagnosing Narcolepsy and Idiopathic Hypersomnia

et al. 2023

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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 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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Benefit of Repeat Multiple Sleep Latency Testing in Confirming a Possible Narcolepsy Diagnosis

Abstract: We demonstrate that a repeat MSLT confirmed the diagnosis of narcolepsy in 20% of patients whose results had been nonconfirmatory on a first MSLT. This study provides support for a repeat MSLT in cases where clinical suspicion for narcolepsy is high despite an ambiguous first test.

Cited by 18 publications

References 15 publications

Altered Dynamics in the Circadian Oscillation of Clock Genes in Dermal Fibroblasts of Patients Suffering from Idiopathic Hypersomnia

Altered Dynamics in the Circadian Oscillation of Clock Genes in Dermal Fibroblasts of Patients Suffering from Idiopathic Hypersomnia

Diagnosis and management of central hypersomnias

Challenges in Diagnosing Narcolepsy and Idiopathic Hypersomnia

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