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Disturbi neurologici nel sonno che lo pneumologo deve conoscere

This article provides essential information on neurological sleep disorders that pneumologists should be familiar with. Topics covered include narcolepsy prevalence, clinical symptoms, and diagnostic criteria. The content is sourced from reputable studies and medical experts in the field.

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Disturbi neurologici nel sonno che lo pneumologo deve conoscere

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  1. Disturbi neurologici nel sonno che lo pneumologo deve conoscere Luigi Ferini-Strambi Centro di Medicina del Sonno Università Vita-Salute San Raffaele, Milano

  2. INSONNIE Le tre donne, Pablo Picasso Pablo Picasso

  3. IPERSONNIE Gustav Klimt Danae, Gustav Klimt

  4. Narcolepsy: Epidemiology • Men affected somewhat more often than women • Age at onset • From childhood to the early fifties • Mean age at onset: 24 years • Two peaks: • A major one at approximately 15 years of age • A secondary one at approximately 36 years of age • Clinical presentation and natural history of narcolepsy-cataplexy similar across ethnic groups Dauvilliers et al. Neurology 2001;57:2029-2033; Okun et al. Sleep 2002;25:27-35..

  5. Narcolepsy/Cataplexy Prevalence Estimates Differ Between Ethnic Groups 0.59% Low estimate High estimate % of population 0.16% 0.035% 0.026% 0.002% Western Europe/ North America Japan Israel Hublin et al. Ann Neurol 1994;35:709. Silber et al. Sleep 2002;25:197. Honda. Sleep Res 1979;8:191. Tashiro et al. J Sleep Res 1992;1:228. Wilner et al. Hum Immunol 1988;21:15. Ohayon et al. Neurology 2002; 58:1926. Zeman et al. BMJ 2004; 329:724

  6. Onset (N=992) Diagnosis (N=1029) How Long is it Before Narcolepsy is Diagnosed? Total Onset vs Total Diagnosis 400 300 200 Number of respondents 100 0 0-4 5-9 10-14 15-19 20-24 25-29 30-34 35-39 40-44 45-49 50-54 55-59 60-64 65-69 70-74 Age (years) Courtesy of M. Thorpy, MD.

  7. Narcolepsy:Constellation of Symptoms • Excessive daytime sleepiness • Cataplexy and other REM phenomena • Hypnagogic/hypnopompic hallucinations • Sleep paralysis • Fragmented sleep • Automatic behaviors Guilleminault. Narcolepsy syndrome. In: Principles and Practice of Sleep Medicine. 1994.

  8. Cataplexy:Clinical Presentations • Ptosis • Sagging jaw • Hypophonic/slurred speech • Nodding head • Arm or leg weakness (knee buckling) • Generalized weakness/paralysis • Ventilatory muscles spared • Muscle twitching Anic-Labat et al. Sleep 1999;22:77.

  9. Cataplexy: Emotional Triggers % of patients with trigger 100 87% 73% 80 68% 65.6% 58.1% 54% 60 50% 40 22% 20 0 Sex Anger Stress Joking Surprise Laughter Excitation Startlement Adapted from Anic-Labat et al. Sleep 1999;22:77.

  10. Hallucinations • Vivid, dreamlike hallucinations that occur during transitions between wakefulness and sleep • Hypnagogic at sleep onset (most common) • Hypnopompic at awakening • Multisensory • May accompany sleep paralysis • Some awareness of surroundings is preserved • Frightening/disconcerting Guilleminault and Anagnos. Narcolepsy. In: Principles and Practice of Sleep Medicine, 3rd ed. 2000.

  11. Sleep Paralysis • Inability to move for a few seconds or minutes • Occurs at sleep onset or upon awakening • Ends spontaneously or after mild sensory stimulation (“shake out of it”) • Medically stable; ventilation, ocular muscles, and awareness preserved; limited vocalization • May accompany hypnagogic/hypnopompic hallucinations • Frightening/disconcerting Overeem et al. J Clin Neurophysiol 2001;18:78; Hishikawa and Shimizu. Adv Neurol 1995;67:245.

  12. Fragmented Nocturnal Sleep • Severe disruption of nocturnal sleep may occur in up to 90% of patients with narcolepsy • Frequent awakenings • Fragmented circadian rhythms • Early onset REM periods • Sleep intruding into usual waking hours Guilleminault. Narcolepsy syndrome. In: Principles and Practice of Sleep Medicine. 1994; Bassetti and Aldrich. Neurol Clin 1996;14:545.

  13. ICSD-2 Diagnostic Criteria for Narcolepsy with Cataplexy • Complaint of EDS for at least 3 months • Typical cataplexy: sudden and transient episodes of loss of muscle tone triggered by emotions including laughter; consciousness preserved • No medical or mental disorder accounts for the symptoms • MSLT findings: mean sleep latency <8 min, 2 SOREMPs; or CSF hypocretin-1 level 110 pg/ml (internationally standardised value) Minimal criteria: A + B + C ICSD-2 = International Classification of Sleep Disorders (revised 2004); EDS = excessive daytime sleepiness; MSLT = Multiple Sleep Latency Test; SOREMP = sleep-onset REM period; CSF = Cerebrospinal Fluid.

  14. ICSD-2 Diagnostic Criteria Narcolepsy without Cataplexy • Complaint of EDS for at least 3 months • No (typical) cataplexy • No medical or mental disorder accounts for the symptoms • MSLT findings: mean sleep latency <8 min, 2 SOREMPs; or CSF hypocretin-1 level 110 pg/ml (internationally standardised value) Minimal criteria: A + B + C + D ICSD-2 = International Classification of Sleep Disorders (revised 2004); EDS = excessive daytime sleepiness; MSLT = Multiple Sleep Latency Test; SOREMP = sleep-onset REM period; CSF = Cerebrospinal Fluid.

  15. Ecole d’Avignone AUMENTATA ATTIVITA’ MOTORIA NEL SONNO

  16. Circa la metà dei pazienti OSA presenta irrequietezza motoria durante il sonno • ASDA. The International Classification of Sleep Disorders, Revised: Diagnostic and Coding Manual. Rochester, Minnesota; 1997: 52-8. • Kales A, et al. J Chron Dis 1985; 38: 419-25. • Maislin G, et al. Sleep 1995; 18: 158-66. • Coversdale S, et al. Aust N Z J Med 1980; 10: 284-8 • Kryger M, Roth T, Dement W. Principle and Practice of Sleep Medicine. WB Saunders Philadelphia 2010

  17. PLM Disorder Movimenti ripetitivi e stereotipati degli arti durante il sonno Più frequenti nel sonno 2 NREM = Frammentazione del sonno = Sia insonnia che ipersonnia

  18. PLM Disorder-Stadiazione Assente: PLM Index inferiore a 5 Lieve: PLM Index tra 5 e 25 Moderato: PLM Index tra 25 e 50 Grave: PLM Index superiore a 50

  19. Increase of heart rate in relation to periodic leg movement (PLM)

  20. RLS and periodic limb movements Pennestri MH, et al. Neurology 2007;68:1213–1218.Siddiqui F, et al. Clin Neurophysiol 2007;118:1923–1930. In RLS, PLMs induce a repetitive rise in blood pressure and heart rate

  21. Multivariate odds ratios: hypertension adjusted for other variables Subjects and family members (n=861) were recruited from an advertisement describing RLS and provided clinical data. Age gender, body mass index and mean periodic leg movements of sleep (PLMs) were examined as predictors of hypertensive status Billars L, et al. Sleep 2007;30(Abstract Supplement)A297. Abstract #0869.

  22. NFLE: clinical profile • Age at onset 10-12 yrs • clustersof nocturnal short (< 60 s) motor seizures (NREM), sometimes prolonged • dystonic-dyskinetic movements with tonic posture, complex motor activities (wandering, pelvic thrusting) or simple repetitive gestures • abrupt, stereotypicand intraindividually repetitive • absenceof ictal or interictal EEG abnormalities (rare frontal foci)

  23. Rem Sleep Behavior Disorder (RBD) • 1986 – 5 patients – Mahowald et al. • RBD is characterized by the intermittent loss of Rem sleep electromyographic (EMG) atonia and by the appearance of elaborate motor activity associated with dream mentation

  24. REM SLEEP BEHAVIOR DISORDER

  25. Some clinical-PSG aspects of RBD (Ferini-Strambi et al, 2005) • M/F: 9/1 • Age of onset: 52.6  16 yrs • Age at presentation: 59.3  15 yrs • Rarely children and adolescent onset • Altered dream process or enacting behaviors92% • PLMS 63% (legs/arms) •  % SWS for age (84%)(% st 3-4 NREM = 25 6)

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