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Classification of Sleep disorders 長庚醫院精神科黃玉書醫師 1

Sleep Medicine • Sleep Medicine is a young field and its nosology is far from fixed. • The first attempt to classify sleep disorders had its origin in a workshop at the 1972 annual meeting of the Association for the Psychophysiological Study of Sleep (APSS), resulting in the establishment of a Nosology Committee in 1976. 2

Sleep Medicine • In 1979, a 137 page classification of sleep disorders (THE DIAGNOSTIC CLASSIFICATION OF SLEEP AND AROUSAL DISORDERS) sponsored by the Association of Professional Sleep Disorders Centers and the APSS was published in the newly formed journal Sleep. • Classification of Sleep and Arousal Disorders: 1979 • A. DIMS: Disorders of initiating and maintaining sleep (insomnias) • B. DOES: Disorders of excessive somnolence • C. Disorders of the sleep-wake schedule • D. Dysfunctions associated with sleep, sleep stages or partial arousals (parasomnias) • 3

Sleep Medicine • THE INTERNATIONAL CLASSIFICATION OF SLEEP DISORDERS (ICSD) : By 1985 it had become apparent that knowledge had progressed to the point that a new classification was needed. The American Sleep Disorders Association (ASDA), in collaboration with European Sleep Research Society, the Japanese Society of Sleep Research and the Latin American Sleep Society, commissioned a new nosology that was published in 1990 . • ICSD: The classification comprised 84 disorders and utilize a somewhat different grouping of topics based on pathophysiological concepts . 4

Sleep Medicine : ICSD • DYSSOMNIAS • Intrinsic sleep disorders • Extrinsic sleep disorders • Circadian rhythm • PARASOMNIAS • Arousal disorders • Sleep-wake transition disorders • Parasomnias usually associated with REM sleep • Other parasomnias • Sleep disorders associated with other medical or psychiatric disorders • Associated with mental disorders • Associated with neurological disorders • Associated with other medical disorders • Proposed sleep disorders • 5

Sleep Medicine • In 2002 the American Academy of Sleep Medicine, set up a committee to revise once again the classification of sleep disorders. • Under the direction of Dr Peter Hauri, the committee has proposed a more pragmatic classification, based on current clinical concepts of the grouping of sleep disorders. • The goals of ICSD-2 are: 1. To describe all currently recognized sleep and arousal disorders, and to base the description on scientific and clinical evidence. 2. To present the sleep and arousal disorders in an overall structure that is rational and scientifically valid 3. To render the sleep and arousal disorders as compatible with ICD-9 and ICD-10 as possible. • Based on the thought express above, ICSD-2 sorts the sleep disorders into the following eight categories: 6

ICSD-2 ( 2005) • I. Insomnias • II. Sleep Related Breathing Disorders • III. Hypersomnias of Central Origin Not Due to a Circadian Rhythm, Sleep Disorder, Sleep Related Breathing Disorder, or Other Cause of Disturbed Nocturnal Sleep. • IV. Circadian Rhythm Sleep Disorders • V. Parasomnias • VI. Sleep Related Movement Disorders • VII. Isolated Symptoms, Apparently Normal Variants, and Unresolved Issues. • VIII. Other Sleep Diorders. 7

OVERVIEW OF SLEEP DISORDERS : ICSD-2 8

Insomnias 10

失眠的認識及治療長庚醫院精神科黃玉書醫師 11

睡眠時間（到底要睡多久） • 國外研究：一般人睡眠時間5-9小時 • 體質因素，因人而異：如愛迪生及愛因斯坦 • 會不會影響第二天的身心狀況及生活功能 12

Insomnias • Insomnia is a symptom of perceived reduction in the quantity or quality of sleep and is not a single clinical entity. • However, certain causes of chronic insomnia are believed to be due to intrinsic disturbances of brain function. 13

Insomnia (原發性失眠) : DSM-IV • 失眠定義：主要分成入睡因難或無法持續睡眠或睡眠為非回復性的( nonrestorative),一週至少發生三次，且長達一個月而影響正常生活。 14

General Criteria for Insomnia : ICSD-2 ( 2005) • A. A complaint for difficulty initiating sleep, difficulty maintaining sleep, or waking up too early or sleep that is chronically nonrestorative or poor in quality. In children, the sleep difficulty is often reported by the caretaker and may consist of observed bedtime resistance or inability to sleep independently. • B. The above sleep difficulty occurs despite adequate opportunity and circumstances for sleep. • C. At least one of the following forms of daytime impairment related to the nighttime sleep difficulty is reported by the patient: • i. Fatigue or malaise • ii. Attention, concentration, or memory impairment • iii. Social or vocational dysfunction or poor school performance • iv. Mood disturbance or irritability • v. Daytime sleepiness • vi. Motivation, energy, or initiative reduction • vii. Proneness for errors or accidents at work or while driving • viii. Tension, headaches, or gastrointestinal symptoms in response to sleep loss 15 • ix. Concerns or worries about sleep

Insomnia : ICSD-2 • 1. Adjustment Insomnia (Acute Insomnia) • 2. Psychophysiological Insomnia • 3. Paradoxical Insomnia • 4. Idiopathic Insomnia • 5. Insomnia Due to Mental Disorder • 6. Inadequate Sleep Hygiene • 7. Behavioral Insomnia of Childhood • 8. Insomnia Due to Drug or Substance • 9. Insomnia Due to Medical Condition • 10. Insomnia Not Due to Substance or Known Physiological Condition, Unspecified (Nonorganic Insomnia, NOS) • 11. Physiological (Organic) Insomnia, Unspecified 16

Adjustment Insomnia (Acute Insomnia) • Alternate Names :Acute insomnia, transient insomnia, short-term insomnia, stress related insomnia, transient psychophysiological insomnia, adjustment disorder. • Diagnostic Criteria: • A. The patients symptoms meet the criteria for insomnia. • B. The sleep disturbance is temporally associated with an identifiable stressor that is psychological, psychosocial, interpersonal, environmental, or physical nature. • C. The sleep disturbance is expected to resolve when the acute stressor resolves or when the individual adapts to the stressor. • D. The sleep disturbance lasts for less than three months. • E. The sleep disturbance is not better explained by another current sleep disorder, medical or neurological disorder, mental disorder, medication use, or substance use disorder. 17

Psychophysiological Insomnia • Alternate Names : Learned insomnia, conditioned insomnia, functionally autonomous insomnia, chronic insomnia, primary insomnia, chronic somatized tension, internal arousal without psychopathology. • Diagnostic Criteria : • A. The patient’s symptoms meet the criteria for insomnia • B. The insomnia is present for at least one month. • C. The patient has evidence of conditioned sleep difficulty and/or heightened arousal in bed as indicated by one or more of the following: • i. Excessive focus on and heightened anxiety about sleep • ii. Difficulty falling asleep in bed at the desired bedtime or during planned naps, but no difficulty falling asleep during other monotonous activities when not intending to sleep • iii. Ability to sleep better away from home than at home • iv. Mental arousal in bed characterized either by intrusive thoughts or a perceived inability to volitionally cease sleep-preventing mental activity • v. Heightened somatic tension in bed reflected by a perceived inability to relax the body sufficiently to allow the onset of sleep • D. The sleep disturbance is not better explained by another sleep disorder, medical or neurological disorder, mental disorder, medication use, or substance use disorder. 18

Paradoxical Insomnia • Alternate Names: Sleep state misperception, subjective insomnia, pseudo-insomnia, subjective complaint of sleep initiation and maintenance difficulty without objective findings, insomnia without objective findings, sleep hypochondriasis, subjective sleep complaint. • Diagnostic Criteria : • A. The patient’s symptoms meet the criteria for insomnia. • B. The insomnia is present for at least one month. • C. One or more of the following criteria apply: • i. The patient reports a chronic pattern of little or no sleep most nights with rare nights during which relatively normal amounts of sleep are obtained. • ii. Sleep-log data during one or more weeks of monitoring show an average sleep time well below published age-adjusted normative values, often with no sleep at all indicated for several nights per week; typically there is an absence of daytime naps following such nights • iii. The patients show a consistent marked mismatch between objective findings from polysomnography or actigraphy and subjective sleep estimates derived either from self-report or a sleep diary • D. At least one of the following is observed: • i. The patients reports constant or near constant awareness of environmental stimuli throughout most nights • ii. The patient reports a pattern of conscious thoughts or rumination throughout most nights while maintaining a recumbent posture • E. The daytime impairment reported is consistent with that reported by other insomnia subtypes, but it is much less severe than expected given the extreme level of sleep deprivation reported; there is no report of intrusive daytime sleep episodes, disorientation, or serious mishaps due to marked loss of alertness or vigilance, even following reportedly sleepless nights. • F. The reported sleep disturbance is not better explained by another sleep disorder, medical or neurological disorder, mental disorder, medication use, or substance use disorder. 19

Idiopathic Insomnia • Alternate Names :Childhood-onset insomnia, life-long insomnia, insomnia first evident during infancy or childhood. • Diagnostic Criteria : • A. The patient’s symptoms meet the criteria for insomnia. • B. The course of the disorder is chronic, as indicated by each of the following: • i. Onset during infancy or childhood • ii. No identifiable precipitant or cause • iii. Persistent course with no periods of sustained remission • C. The sleep disturbance is not better explained by another sleep disorder, medical or neurological disorder, mental disorder, medication use, or substance use disorder. 20

Insomnia Due to Mental Disorder • Alternate Names : Insomnia related to psychopathology, psychiatric insomnia; insomnia due to depression, insomnia due to anxiety disorder. • Diagnostic Criteria • A. The patient’s symptoms meet the criteria for insomnia. • B. The insomnia is present at least one month. • C. A mental disorder has been diagnosed according to standard criteria (i.e., formal criteria as provided in the Diagnostic and Statistical Manual of Mental Disorders- see Appendix B). • D. The insomnia is temporally associated with the mental disorder, however, in some cases, insomnia may appear a few days or weeks before the emergence of the underlying mental disorder. • E. The insomnia is more prominent than that typically associated with the mental disorders, as indicated by causing marked distress or constituting an independent focus of treatment. • F. The sleep disturbance is not better explained by another sleep disorder, medical or neurological disorder, medication use, or substance use disorder. 21

Inadequate Sleep Hygiene • Alternate Names : Poor sleep hygiene, sleep hygiene abuse, bad sleep habits, irregular sleep habits, excessive napping, sleep incompatible behaviors . • Diagnostic Criteria : • A. The patient’s symptoms meet the criteria for insomnia. • B. The insomnia is present for at least one month • C. Inadequate sleep hygiene practices are evident as indicated by the presence of at least one of the following: • i. Improper sleep scheduling consisting of frequent daytime napping, selecting highly variable bedtimes or rising times, or spending excessive amounts of time in bed • ii. Routine use of products containing alcohol, nicotine, or caffeine especially in the period preceding bedtime • iii. Engagement in mentally stimulating physically activating, or emotionally upsetting activities to close to bedtime • iv. Frequent use of the bed for activities other than sleep (e.g., television watching, reading studying, snacking, thinking, planning) • v. Failure to maintain a comfortable sleeping environment • The sleep disturbance is not better explained by another sleep disorder, medical or neurological disorder, mental disorder, medication use, or substance use disorder. 22

Behavioral Insomnia Of Childhood • Alternate Names: Childhood insomnia, limit-setting sleep disorder, sleep-onset association disorder. • Diagnostic Criteria : • A. A child’s symptoms meet the criteria for insomnia based upon reports of parents or other adult caregivers. • B. The child shows a pattern consistent with either the sleep-onset association or limit-setting type of insomnia described below. • i. Sleep-onset association type includes each of the following: • 1. Falling asleep in an extended process that requires special conditions. • 2. Sleep-onset associations are highly problematic or demanding. • 3. In the absence of the associated conditions, sleep onset is significantly delayed or sleep is otherwise disrupted. • 4. Nighttime awakenings require caregiver intervention for the child to return to sleep. • ii. Limit-setting type includes each of the following: • 1. The individual has difficulty initiating or maintaining sleep. • 2. The individual stalls or refuses to go to bed at an appropriate time or refuses to return t o bed following a nighttime awakening. • 3. The caregiver demonstrates insufficient or inappropriate limit setting to establish appropriate sleeping behavior in the child. • The sleep disturbance is not better explained by another sleep disorder, medical or neurological disorder, mental disorder, or medication use. 23

Insomnia Due To Drug Or Substance Alternate Names : Substance-induced sleep disorder, alcohol-dependent sleep disorder, alcohol-dependency insomnia, stimulant-dependent sleep disorder, drug-induced sleep disorder, substance abuse, insomnia related to drug abuse, rebound insomnia, medication side effect, medication reaction, food reaction insomnia, toxin-induced sleep disorder. Diagnostic Criteria : A. The patient’s symptoms meet the criteria for insomnia. B. The insomnia is present for at least one month. C.One of the following applies: i. There is current ongoing dependence on or abuse of a drug or substance known to have sleep disruptive properties either during periods of use or intoxication or during periods of withdrawal ii. The patient has current ongoing use of or exposure to a medication, food, or toxin known to have sleep-disruptive properties in susceptible individuals D.The insomnia is temporally associated with the substance exposure, use or abuse, or acute withdrawal. E.The sleep disturbance is not better explained by another sleep disorder, medical or neurological disorder, or mental disorder. 24

Insomnia Due to Medical Condition Alternate Names : Sleep disorder due to a general medical condition, medically based insomnia, organic insomnia, insomnia due to a known organic condition. Diagnostic Criteria : A. The patient’s symptoms meet the criteria for insomnia. B. The insomnia is present for at least one month. C. The patient has a coexisting medical or physiologic condition known to disrupt sleep. D. Insomnia is clearly associated with the medical or physiologic condition. The insomnia began near the time of onset or with significant progression of the medical or physiologic condition and waxes and wanes with fluctuations in the severity of this condition. The sleep disturbance is not better explained by another sleep disorder, mental disorder, medication use, or substance use disorder. 25

Insomnia Not Due to Substance or Known Physiologic Condition, Unspecified (NonOrganic Insomnia, NOS) • This diagnosis is used for forms of insomnia that cannot be classified elsewhere but are suspected to be related to an underlying mental disorder, psychological factors, or sleep-disruptive practices. In some cases, this diagnosis may be assigned on a temporary basis when an insomnia diagnosis seems appropriate but further evaluation is required to determine the specific mental condition or psychological and behavioral factors responsible for the reported sleep difficulty. In other cases, this diagnosis may be assigned when psychological or behavioral factors appear to contribute to the insomnia but the patient’s symptoms fail to meet criteria for one of the other insomnia diagnoses. 26

Physiologic (Organic) Insomnia, Unspecified • This diagnosis is used for forms of insomnia that cannot be classified elsewhere but are suspected to be related to an underlying medical disorder, physiological state, or substance used or exposure. In some cases, this diagnosis may be assigned on a temporary basis when an insomnia diagnosis seems appropriate but further evaluation is required to determine the specific medical condition or toxin exposure responsible for the reported sleep difficulty. This diagnosis can also be assigned when substance abuse or dependence-related insomnia is suspected but is yet to be confirmed. In other cases, this diagnosis may be assigned when an endogenous physiologic disorder or condition appears to contribute to the insomnia but the patient’s symptoms fail to meet the criteria for one of the other insomnia diagnoses. 27

Insomnia (失眠) • 失眠的種類：入睡困難：佔 5 % ( 台灣 ) 睡眠中斷：佔 3.4 % ( 台灣 ) 清晨早醒：佔 9.3 % ( 台灣 ) 暫時性失眠:( 數天) 短期性失眠: (數週) 慢性失眠: (大於一個月) 28

失眠的原因 • 30-35%：為精神科方面的問題（以憂鬱症及焦慮症較多） • 15-25%：原發性失眠 • 10-15%：酒精、藥物引起 • 5-10%：身體疾病引起的失眠 • 15-20%：與睡眠有關的異常現象，如睡眠呼吸中止症、夜間肌痙攣 29

失眠的後果 ‧生理：身體疲乏、肌肉緊繃、酸痛、四肢無力 ‧精神：躁動、心煩、易怒，對任何事都不感興趣，精神不集中，記憶力變差 ‧生活社會功能受影響，影響工作表現 ‧醫療資源消耗 ‧增加發生憂鬱症的機率 ‧增加發生心血管問題的危險 30

Physiological Changes in Insomnia Patients Body temperature Daytime sleep latency EMG , EEG α , EEG β Heart rate Corticosteroid Sympathetic activity Adrenaline Parasympathetic activity V O2 Skin resistance Phasic vasoconstriction 31

失眠的處理 • 睡眠衛生學 • 認知行為治療 – Muscle relaxation (肌肉放鬆法) – Stimulus control (刺激控制法) – 睡眠限制治療法 – Cognitive therapy (認知治療) • 藥物治療 • 另類療法 32

Lab study • Sleep Lab ( PSG) for insomnia ? 33

Sleep-related breathing disorders • This category includes disorder of sleepiness caused by dysfunction of the upper airway or respiratory control mechanisms. • Obstructive sleep apnea, obstructive sleep hypopnea and upper airway resistance syndromes are a spectrum of disorders characterized by hypotonia of upper airway muscles during sleep, resulting in varying degrees of reduce airflow with resultant hypoxemia and recurrent arousals. • These disorders are highly prevalent increasing in incidence with age and body mass index. • 35

Sleep-related breathing disorders • Central sleep apnea syndrome is a rarer form of sleep-disordered breathing in which dysfunction of respiratory control results in recurrent apneas with open airway. Causes include left ventricular failure (in which central apneas are a poor prognostic sign) and sleeping at high altitudes. • Central alveolar hypoventilation syndrome includes conditions of reduced respiratory drive during sleep related to neuromuscular diseases or brainstem dysfunction, and results in nocturnal hypoxemia and hypercapnia. • Other respiratory disorders with sleep-related symptoms include asthma, in which attacks of bronchopasm may occur in the early hours of the morning, and chronic obstructive pulmonary disease with nocturnal hypoxemia. 36

Hypersomnias not related to respiratory issues • Certain disorders of excessive daytime somnolence are believed to be caused by intrinsic brain dysfunction. • Narcolepsy, recognized for over a century, consist of excessive daytime sleepiness usually associated with weakness of muscles with emotion (known as cataplexy) and the premature occurrence of rapid eye movement (REM) sleep. In most instances this appears to be due to dysfunction of the hypocretin (orexin) neurotransmitter system. 38

Hypersomnias not related to respiratory issues • Idiophatic hypersomnia is a similar but less well defined disorder, with hypersomnolence but no cataplexy and no disturbance in the timing of REM sleep. • Recurrent hypersomnia is a very rare disorder with periods of sleep lasting days to weeks, often associated with behavioral disturbances ( KLS). 39

Hypersomnias not related to respiratory issues • Insufficient sleep syndrome is a major societal problem in which voluntary sleep deprivation can result in impairment of alertness and cognitive abilities. • Medications and illicit drug use can cause excessive daytime sleepiness. • Hypersomnia may also be due to medical conditions, such as Parkinson’s disease and dementias. 40

猝睡症（Narcolepsy） Psychiatrist: Yu-Shu Huang Department of Child Psychiatry 41

Daytime sleepiness with and without cataplexy in Chinese-Taiwanese. Yu-shu Huang MD1, Mehdi Tafti PhD2, Christian Guilleminault MD BiolD3 1-Sleep Disorders Clinic, Chang-Gung University Hospital, Taipei, Taiwan 2-Center for Integrative Genomics University of Lausanne, Switzerland 3-Stanford University Sleep Medicine Program, Stanford, CA, USA Abstract We evaluated 35 Chinese- Taiwaneses successively referred between 2002 and 2004 for excessive daytime sleepiness with presence or absence of cataplexy and no association with other sleep disorders. Subjects had in depth investigation including polysomnography, repeat multiple sleep latency test (MSLT), and HLA typing. Three patients without cataplexy also had CSF hypocretin measurements. As in other ethnies, DQB1-0602 was associated with cataplexy in over 90% of Chinese-Taiwanese cases. Absence of cataplexy and < 2 sleep onset REM periods (SOREMP) was seen in only 2 subjects, but presence of ≥2 SOREMP did not dissociate DQB1-0602 positive and negative or cataplexy positive and negative subjects. As a group, narcoleptics with cataplexy had a higher number of SOREMPs and the mean sleep latency was much shorter in narcoleptics with cataplexy than in the non cataplectic patients independently of number of SOREMPs. Our study indicates that Chinese Taiwanese with cataplexy presents with similar HLA findings as Black and Caucasian, but presence of two or more SOREMPs in Chinese Taiwanese patients is not a good diagnostic tool to identify “Narcolepsy”. When cataplexy is not present description of polysomnographic and HLA findings may be a better approach than using a label with little scientific 43 significance: It would allows collecting better patients’ phenotype.

• Canine narcolepsy was first reported in the early 1970s • The term narcolepsy was first coined by Glinean in 1880 to designate a pathologic condition characterized by irresistible episodes of sleep of short duration recurring at close intervals. ( Gelinean, 1880 Gaz Hop Paris). • See video: canine narcolepsy 44

Narcolepsy Narcolepsy is a disorder of unknown etiology, which is characterized by excessive sleepiness that typically is associated with cataplexy and other REM sleep phenomena such as sleep paralysis and hypnagogic hallucinations. ( original definition) 45

Narcolepsy Symptoms • Excessive sleepiness and sleep attacks • Cataplexy – Muscle weakness precipitated by emotion • Hypnagogic hallucinations – Dreamlike perceptions at sleep onset • Sleep paralysis – Inability to move at sleep onset or upon awakening • Disturbed nocturnal sleep ( Guilleminault , 1975 in narcolepsy simposium and 1994; Mitler et al, 1990) (International Classification of Sleep Disorders, 1990) 46

The definition is being revised : • In most cases with cataplexy and in fewer cases without cataplexy, a deficiency in the neuropeptide hypocretin (Hcrt) system is involved. A tight association with the HLA DQB1* O602 is also found only in cases with cataplexy. (International: 2005); (S. Nishino et al. , 2000); (E. Mignot et al., 2002; Am J Hum Gnet 2001; Neurology 1998; Sleep 1997); (T. Kanbayashi et al., 2002) 47

Prevalence: (0.02% to 0.18%in US) (narcolepsy with cataplexy) • In Finland:0.026%. ( Hublin et al.,1996) • Great Britain, France , Czech Republic and US: 0.013% to 0.067 % . ( Dauvilliers et al., 2003 ; Mignot, 1998) African Americans: 0.02% . ( Solomon, 1945) • Japan:0.16% and 0.18%(did not use PSG to confirm the diagnosis). ( Honda et al., 1979) • Israel: as low as 0.002%. ( Lavie and Peled, 1987) • Southern Chinese (Hong Kong): 0.034% . ( Yun-Kwok Wing et al., 2002) 49

The prevalence of narcolepsy without cataplexy: • Unknown cases of narcolepsy without cataplexy represent 10% to 50% of the narcoleptic population. (45.5% in Chang Gung hospital) . ( Rosen et al., 2003) • Adult population: 1% to 3% may have unexplained sleepiness and SoREM during MSLT. • Higher Prevalence in adolescents or young adults : Because of voluntary chronic sleep deprivation. ( ICSD-2) 50

Assessing Sleepiness • Observation – Facial expression, posture, yawning • Subjective – Stanford Sleepiness Scale (SSS) – Epworth Sleepiness Scale (ESS) • Objective – Multiple Sleep Latency Test (MSLT) – Maintenance of Wakefulness Test (MWT) – Pupillography – PSG – 24-hour monitoring( video) Carskadon et al, 1986 52

嗜睡量表 : ESS (Epworth sleepiness scale ) (12) • 靜靜坐著閱讀，是否會睡著？ • 白天看電視時，是否會睡著？ • 在公共場合中，靜靜的坐著是否會睡著？ • 連續坐一個小時的公車或汽車是否會睡著？ • 下午躺下休息時，是否會睡著？ • 坐著跟人談話是否會睡著？ • 在午餐後，雖未喝酒，靜靜坐著是否會睡著？ • 當您開著車，在等紅綠燈時是否會睡著？ 53

PSG Criteria and Findings • Short sleep latency • Sleep-onset REM period occurs in about 50% of narcoleptics • Increased frequency of arousals • Increased amounts of Stage 1 sleep • If cataplexy is absent, narcolepsy is difficult to diagnose in the presence of sleep fragmentation from other sleep disorders 54

MSLT Criteria for Narcolepsy • Mean sleep latency of less than 8 minutes • 2 or more sleep-onset REM periods (SOREMPs) • No other sleep disorder that accounts for the findings • MSLT should be performed following sufficiend nocturnal sleep (minimum 6 hours). (ICSD-II) 55

Clinical Features: (see video) Excessive daytime sleepiness • Is usually the first symptom to manifest. (100%) • Narcoleptic pts characteristically wake up feeling refreshed, and there is a refractory period of 1 to several hours before the next episode occurs. 57

Clinical Features: Cataplexy (see video) • Most often occurs with in a year of onset • Recurrent, brief episodes of muscle weakness triggered by laughter or at least two of the following: anger, surprise, elation, amusement • One or more of the following symptoms: knees buckling, weakness in legs, jaw, head and neck, complete fall with no injury • At least 5 episodes over lifetime 58

Clinical Features: Cataplexy • Most episodes are bilateral • Consciousness is maintained, at least at the beginning of the episodes • Most episodes last less than 2 minutes( a few seconds to several minutes). • Twitches and jerks may occur, particularly in face (as p’t is trying to fight the episode). • Cataplexy may vary in pattern, frequency and severity. 59

Associated Features: • Hypnagogic hallucinations: Are vival perceptual experience typically occurring at sleep onset Include visual, tactile, kinetic, and auditory phenomena. Recurrent hypnagogic hallucinations are experience by 40% to 80% of patients with narcolepsy with cataplexy. 60

Associated Features: • Sleep paralysis A transient, generalized inability to move or to speak during the transition between sleep and wakefulness. Sleep paralysis is experienced by 40% to 80% of narcoleptic patients. 61

Associated Features: • Nocturnal sleep disruption: Occurs in approximately 50% of narcoleptics. Most typically sleep-maintenance rather than sleep-onset insomnia. 62

Associated Features: • Memory lapses: Especially during automatic behavior without awareness of sleepiness. It may show inappropriate activity and poor adjustment to abrupt environmental demands. 63

Associated Features: • REM sleep behavior disorder (RBD): It can be either an isolated polysomnographic finding (REM sleep without atonia) or a clinically significant complaint. 64

Associated Features: • Narcolepsy with cataplexy is often associated with increased BMI, obesity (especially when untreated), and predispose the individual to developing OSA. 65

Narcolepsy Symptoms • Many of the symptoms of narcolepsy can occur in any person who is severe sleep deprived, only cataplexy is unique to narcolepsy. 66

Pathophysiology • Electrophysiology – Sleep-onset REM periods, fragmented sleep, polyphasic 24-hour sleep-wake cycles • Neurochemistry – Cholinergic and aminergic dysfunction • Neuroanatomy – Postulated pontine and limbic abnormalities • Genetic – HLA association in humans – Genetic transmission in canines 67

Genetic and familial aspects of narcolepsy 68

DNA sequence in narcoleptic patients. THE SUSCEPTIBILITY GENE FOR NARCOLEPSY IS : HLA DQB1-0602 RATHER THAN DR2. In all narcolepsy the active DQA1*0102/ DQB1*0602 heterodimer is necessary for disease predisposition . (E. Mignet: Tissue Antigens 1997) 70

CANINE NARCOLEPSY IS AN AUTOSOMAL RECESSIVE DISORDER • Autosomal recessive forms of canine narcolepsy are due to mutations in the hypocretin receptor type 2 gene. • (Hungs et al.,2001; Lin et al., 1999) 71

Hypocretin deficiency in human Narcolepsy HUMAN NARCOLEPTICS HAVE REDUCED LEVELS OF Hcert-1 IN THEIR CEREBRO- SPINAL FLUID. • Nishino et al., 2000 72

Functions potentially interested by Hypocretin containing neurons: FEEDING BLOOD PRESSURE REGULATION NEURO-ENDOCRINE REGULATION THERMOREGULATION SLEEP-WAKING CYCLE (effect on arousal) Peyron et al., 1998 73

Human Narcolepsy is: HETEROGENEOUS MULTIGENIC ENVORONMENTALLY INFLUENCED 74

治療和處理：Multi-dimensional Treatment 1.goal : 減輕症狀，維持社會職業功能，提升生活品質。 (慢性疾病） 2.Behavioral : ( slep hygiene)良好睡眠衛生：8小時，維持良好睡眠品質 ;有計畫在白天分段小睡（如1天3~4次，每次10到 20分）. 3. Supportive therapy: 病人和家屬的衛教與支持 ; work enviroment（如嚴防開車和工作發生意外）;組成病患團體互相支持 ( narcolepsy association). 4. 藥物治療： 75

Circadian rhythm sleep disorders • This group of conditions includes both intrinsic and environmental disorders in which the timing of sleep within the 24-h circadian cycle becomes disturbed. 78

Circadian rhythm sleep disorders • Delayed sleep phase syndrome is a pathological exaggeration of the normal tendency of teenagers to go to bed later and wake later than first-decade children or adults. This may result in school or college failure or inability to succeed in the workplace. • Advanced sleep phase syndrome is a rarer condition with initiation of sleep early in evening and thus waking earlier than desired. It is usually seen sporadically in the elderly, but a familial form of the disorder has been described. 79

Circadian rhythm sleep disorders • Non-24-h sleep-wake disorder occurs when the biological clock fails to entrain to the 24-h geosynchronous cycle, resulting in the sleep period slowly rotating around the clock. This may be seen in blind patients with inadequate light stimulation of the hypothalamic suprachiasmatic nuclei. • Shift work sleep disorder occurs specially in shift workers who rotate shifts, with frequent changes in work times between day, evening and night. Insomnia and other physical and psychological disturbances are common. • Jet leg syndrome occurs with air travel across time zones from east to west or the reverse. Several days are needed for the biological clock to adopt to such alterations and travelers develop insomnia, excessive sleepiness and mood and somatic symptoms. 80

Parasomnias • Parasomnias are undesirable physical phenomena that occur predominantly during sleep. • Arousal disorders, comprising sleep-walking, sleep terrors and confusional arousals, are a spectrum of conditions in which a sudden arousal from slow-wave sleep is associated with abnormal behavior due to the patient’s inability to make a rapid transition to complete wakefulness. They are common in childhood but can persist or even develop in adulthood, and may be associated with potentially injurious behavior. 82

Parasomnias • Parasomnias usually associated with REM sleep include nightmares, which are frightening dreams during REM sleep resulting in wakening. • Sleep paralysis,occurign at sleep onset or on wakening, is an inability to move from seconds to minutes. It is believed to be due to the muscle atonia of REM sleep developing inappropriately, and may occur both as a normal phenomenon and in patients with narcolepsy. • REM sleep behavior disorder occurs when the normal muscle atonia of REM sleep is lost, allowing the enactment of dreams. Patients flail their arms, kick and vocalize, frequently resulting in injuries to themselves or their bed partners. The conditions occurs predominantly in older men, and is often associated with neurodegenerative diseases, especially Parkinsonian syndromes. 83

Parasomnias • Other parasomnias (not state-related) include sleep enuresis, the continued occurrence of bedwetting in children beyond the age when it normally ceases. • Parasomnias related to a known psychiatric disorder include nocturnal panic attacks and nightmares in post- traumatic stress disorder. • Parasomnias related to medical conditions include confusional behavior at night in patients with dementia. 84

Sleep-related movement disorders • Restless legs syndrome, is characterized by an overwhelming urge to move the legs while sitting or lying and relief by movement. It is a very common cause of insomnia, It is often familial and appears to be due to central dopaminergic dysfunction. • Periodic limb movements disorder is usually associated with rhythmic kicking of the legs during sleep. But PLM may also accompany other sleep disorders and may occasionally alone be a cause of insomnia or hypersomnina. 86

Sleep-related movement disorders • Rhythmic movement disorder can occur during any stage of sleep, but is commonest during drowsiness. It consist of large rhythmic movements, usually of the axial musculature, and includes the conditions previously known as body rocking and head banging. • Bruxism (tooth grinding) may occur during any stage of sleep and can result in jaw pain and damage to teeth. 87

Isolated symptoms, apparently normal variants and unresolved issues • The category of “isolated symptoms, apparently normal variants, and unresolved issues” lists concerns that may appropriately come to the attention of a sleep clinician, without necessarily indicating sleep pathology. • This category includes a number of miscellaneous entities whose clinical significance is uncertain. • Other entries in this category span the borderline between normal and pathological. 89

Isolated symptoms, apparently normal variants and unresolved issues • such as excessively long sleep without daytime hypersomnolence. • Sleep starts, also known as hypnic jerks, are sudden muscle contractions at sleep onset that are noted at times by most people, but can occasionally cause initial insomnia. • Primary snoring is also included in this section. 90

Other sleep disorders • If a sleep disorder is not specifically listed in ICSD-2, use the appropriate “other” diagnoses. • This category includes sleep-related epilepsy, headaches, gastroesophageal reflux disease and laryngospasm. • These conditions can occur predominantly or exclusively during sleep. • 92

Other sleep disorders • Similarly, a sleep disorder may clearly belong to one of the eight disorders categories (e.g., parasomnia), but cannot be diagnosed as any specific disorder within the category because it does not satisfy all the listed diagnostic criteria. Use the appropriate “other” diagnoses. • However if it cannot be classified because not enough information has been collected to know if all the diagnostic criteria have been met, the “unspecified” or “NOS” (not otherwise specified) would be the appropriate diagnosis. 93

ICSD-2 • ICSD-2 classifies sleep disorders in both adult and pediatric patients. • In three sleep disorders, however, the pediatric presentation or diagnostic criteria are so unique as to warrant a specific pediatric designation: behavioral insomnia of childhood; obstructive sleep apnea, pediatric; and primary sleep apnea of infancy. 95

ICSD-2 • Many sleep disorders are multifactorial. • For example, a case of insomnia maybe related to a delayed sleep phase syndrome, inadequate sleep hygiene, and depression. There is no code for “multifactorial,” but the identified elements are coded separately. Thus the sample above would carry three diagnoses. 96

Thank you for your attention. 99

Microsoft PowerPoint - Classification of Sleep disorders-1 ...

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