Transcript Diapositiva 1 - PneumoTrieste

Disturbi
neurologici nel
sonno che lo
pneumologo deve
conoscere
Luigi Ferini-Strambi
Centro di Medicina del
Sonno
Università Vita-Salute San
Raffaele, Milano
Le tre donne, Pablo Picasso
Pablo Picasso
INSONNIE
IPERSONNIE
Gustav Klimt
Danae, Gustav Klimt
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..
Narcolepsy/Cataplexy Prevalence
Estimates Differ Between Ethnic Groups
0.59%
% of population
0,60
Low estimate
High estimate
0,50
0,40
0,30
0.16%
0,20
0,10
0.026% 0.035%
0.002%
0
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
How Long is it Before
Narcolepsy is Diagnosed?
Total Onset vs Total Diagnosis
Number of respondents
400
Onset (N=992)
Diagnosis (N=1029)
300
200
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.
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.
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.
% of patients with trigger
Cataplexy: Emotional Triggers
100
80
87%
73%
68%
60
65.6%
58.1%
54%
50%
40
20
0
Adapted from Anic-Labat et al. Sleep 1999;22:77.
22%
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.
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.
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.
ICSD-2 Diagnostic Criteria
for Narcolepsy with Cataplexy
A.
Complaint of EDS for at least 3 months
B.
Typical cataplexy: sudden and transient episodes of loss
of muscle tone triggered by emotions including laughter;
consciousness preserved
C.
No medical or mental disorder accounts for the
symptoms
D.
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.
ICSD-2 Diagnostic Criteria
Narcolepsy without Cataplexy
A.
Complaint of EDS for at least 3 months
B.
No (typical) cataplexy
C.
No medical or mental disorder accounts for the
symptoms
D.
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.
Ecole d’Avignone
AUMENTATA
ATTIVITA’
MOTORIA NEL
SONNO
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
PLM Disorder
•
Movimenti ripetitivi e stereotipati
degli arti durante il sonno
• Più frequenti nel sonno 2 NREM
• = Frammentazione del sonno
• = Sia insonnia che ipersonnia
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
Increase of heart rate in relation to
periodic leg movement (PLM)
RLS and periodic limb movements
In RLS, PLMs induce a repetitive rise in blood pressure and heart rate
Pennestri MH, et al. Neurology 2007;68:1213–1218.
Siddiqui F, et al. Clin Neurophysiol 2007;118:1923–1930.
Multivariate odds ratios: hypertension
adjusted for other variables
Age
OR 4.37 (3.11–6.13)
Male gender
OR 1.26 (0.90–1.77)
Body mass index
OR 1.96 (1.41–2.71)
PLMI mean
5–15
>15–30
>30
OR 1.50 (1.03–2.19)
OR 1.48 (0.94–2.35)
OR 2.26 (1.28–3.99)
PLMI mean >5
OR 1.59 (1.14–2.21)
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.
NFLE: clinical profile
• Age at onset 10-12 yrs
• clusters of 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, stereotypic and intraindividually
repetitive
• absence of ictal or interictal EEG
abnormalities (rare frontal foci)
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
REM SLEEP BEHAVIOR DISORDER
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)