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Narcolepsy.pdf

related sleep disorders are suggested by a history of loud snoring, pauses in breathing during sleep, brain injury, or cardiovascular disease and by the presence of obesity, oro­ pharyngeal anatomical abnormalities, hypertension, or heart failure on physical examina­ tion. Polysomnographie studies can confirm the presence of apneic events in breathing- related sleep disorder (and their absence in hypersomnolence disorder). Circadian rhythm sleep-wake disorders. Circadian rhythm sleep-wake disorders are often characterized by daytime sleepiness. A history of an abnormal sleep-wake schedule (with shifted or irregular hours) is present in individuals with a circadian rhythm sleep- wake disorder. Parasomnias. Parasomnias rarely produce the prolonged, undisturbed nocturnal sleep or daytime sleepiness characteristic of hypersomnolence disorder. Other mental disorders. Hypersomnolence disorder must be distinguished from mental disorders that include hypersomnolence as an essential or associated feature. In particular, complaints of daytime sleepiness may occur in a major depressive episode, with atypical fea­ tures, and in the depressed phase of bipolar disorder. Assessment for other mental disorders is essential before a diagnosis of hypersomnolence disorder is considered. A diagnosis of hyper­ somnolence disorder can be made in the presence of another current or past mental disorder.

Comorbidity H)φersomnolence can be associated with depressive disorders, bipolar disorders (during a depressive episode), and major depressive disorder, with seasonal pattern. Many individu­ als with hypersomnolence disorder have symptoms of depression that may meet criteria for a depressive disorder. This presentation may be related to the psychosocial consequences of persistent increased sleep need. Individuals with hyper somnolence disorder are also at risk for substance-related disorders, particularly related to self-medication with stimulants. This general lack of specificity may contribute to very heterogeneous profiles among indi­ viduals whose symptoms meet the same diagnostic criteria for hypersomnolence disorder. Neurodegenerative conditions, such as Alzheimer's disease, Parkinson's disease, and mul­ tiple system atrophy, may also be associated with hypersomnolence.

Reiationship to internatlonai Classification of Sleep Disorders The International Classification o f Sleep Disorders, 2nd Edition (ICSD-2), differentiates nine subtypes of "hypersomnias of central origin," including recurrent hypersomnia (Kleine­ Levin syndrome).

Narcolepsy Diagnostic Criteria

A. Recurrent periods of an irrepressible need to sleep, lapsing into sleep, or napping oc­ curring within the same day. These must have been occurring at least three times per week over the past 3 months.

B. The presence of at least one of the following: 1. Episodes of cataplexy, defined as either (a) or (b), occurring at least a few times

per month: a. In individuals with long-standing disease, brief (seconds to minutes) episodes

of sudden bilateral loss of muscle tone with maintained consciousness that are precipitated by laughter or joking.

b. In children or in individuals within 6 months of onset, spontaneous grimaces or jaw-opening episodes with tongue thrusting or a global hypotonia, without any obvious emotional triggers.

2. Hypocretin deficiency, as measured using cerebrospinal fluid (CSF) hypocretin-1 immunoreactivity values (less than or equal to one-third of values obtained in healthy subjects tested using the same assay, or less than or equal to 110 pg/mL). Low CSF levels of hypocretin-1 must not be observed in the context of acute brain injury, inflammation, or infection.

3. Nocturnal sleep polysomnography showing rapid eye movement (REM) sleep la­ tency less than or equal to 15 minutes, or a multiple sleep latency test showing a mean sleep latency less than or equal to 8 minutes and two or more sleep-onset REM periods.

Specify whether: 347.00 (G47.419) Narcolepsy without cataplexy but with hypocretin deficiency: Cri­ terion B requirements of low CSF hypocretin-1 levels and positive polysomnography/ multiple sleep latency test are met, but no cataplexy is present (Criterion B1 not met). 347.01 (G47.411) N arcolepsy with cataplexy but without hypocretin deficiency: In this rare subtype (less than 5% of narcolepsy cases), Criterion B requirements of cataplexy and positive polysomnography/multiple sleep latency test are met, but CSF hypocretin-1 levels are normal (Criterion B2 not met). 347.00 (G47.419) Autosom al dom inant cerebellar ataxia, deafness, and narco­ lepsy: This subtype is caused by exon 21 DNA (cytosine-5)-methyltransferase-1 mu­ tations and is characterized by late-onset (age 30-40 years) narcolepsy (with low or intermediate CSF hypocretin-1 levels), deafness, cerebellar ataxia, and eventually de­ mentia. 347.00 (G47.419) A utosom al dom inant narcolepsy, obesity, and type 2 diabetes: Narcolepsy, obesity, and type 2 diabetes and low CSF hypocretin-1 levels have been described in rare cases and are associated with a mutation in the myelin oligodendro­ cyte glycoprotein gene. 347.10 (G47.429) N arcolepsy secondary to another medical condition: This sub­ type is for narcolepsy that develops secondary to medical conditions that cause infec­ tious (e.g., Whipple’s disease, sarcoidosis), traumatic, or tumoral destruction of hypocretin neurons. Coding note (for ICD-9-CM code 347.10 only): Code first the underlying medical con­ dition (e.g., 040.2 Whipple’s disease; 347.10 narcolepsy secondary to Whipple’s dis­ ease).

Specify current severity: IMild: Infrequent cataplexy (less than once per week), need for naps only once or twice per day, and less disturbed nocturnal sleep. M oderate: Cataplexy once daily or every few days, disturbed nocturnal sleep, and need for multiple naps daily. Severe: Drug-resistant cataplexy with multiple attacks daily, nearly constant sleepi­ ness, and disturbed noctumal sleep (i.e., movements, insomnia, and vivid dreaming).

Subtypes In narcolepsy without cataplexy but with hypocretin deficiency, unclear ''cataplexy-like" symptoms may be reported (e.g., the symptoms are not triggered by emotions and are un­ usually long lasting). In extremely rare cases, cerebrospinal fluid (CSF) levels of hypocre­ tin-1 are low, and polysomnographic/multiple sleep latency test (MSLT) results are negative: repeating the test is advised before establishing the subtype diagnosis. In narco­