Kleine-Levin Syndrome

Def: recurrent episodes of hypersomnia with cognitive and/or behavioral changesVery rare, prevalence 1-5 per millionMale predominanceResolves in median 13-14 yrs, may persist for decades EpisodesHallmark: discrete attacks of hypersomnolence with abrupt onset over a few hrsLast days to weeksPt appears sleepy, confused, apathetic or dream-likeSleep up to 22 hrs/24 hrsVery hard to wake, near end… Continue reading →

Idiopathic Hypersomnia

Rare chronic CNS d/o with clinical overlap with narcolepsy~10x less common than narcolepsyPoorly defined, may be a heterogeneous group of d/oOnset at any age, most often adolescence or early adulthood Clinical featuresMarked EDS is the core featureLong sleep duration, typically ≥10 hrs for main sleep periodLong unrefreshing naps, usually ≥1 hrSleep inertia (sleep drunkenness): marked… Continue reading →

Narcolepsy Type 2

Def: chronic neurological dz sharing PSG and many clinical features with NT1Cataplexy absent, CSF hypocretin-1 not proven lowClinical presentation similar to NT1 but without cataplexyAge of onset and sex distribution mirror NT1 PathophysiologyUnclear~45% HLA-DQB1*06:02 positive Dx criteria (ICSD-3, all required) Differential dx TreatmentSimilar to NT1, minus cataplexy txUS: sodium oxybate, low-sodium oxybate, pitolisant and solriamfetol… Continue reading →

Narcolepsy Type 1

Def: chronic neurological dz caused by extensive loss of hypothalamic orexin (hypocretin) A and B neurons Cardinal features Other featuresDisturbed nighttime sleep with increased N1Brief naps of minutes are usually refreshingComorbid sleep d/o: RBD, OSA, PLMSDepression and anxiety, cause unclear: QoL impact or neurochemical changes Epidemiology: Prevalence 1 per 2000-4000 (0.025-0.05%) worldwideBimodal onset: peak ~15… Continue reading →

Restless Legs Syndrome (RLS)

RLS is a neurological d/o that is often undiagnosed and untreated despite being commonAlso called Willis-Ekbom diseaseCauses both sleep initiation and sleep maintenance problems Dx criteria (all required) Supportive criteria: Family hx of RLS in 1st-degree relatives, Response to dopaminergic drugs, Presence of PLMS PLMS and PLMD: PLMS occur in up to 90% of RLS… Continue reading →

Nocturnal Hypoventilation

Def: insufficient minute ventilation during sleep, reduced breathing with reduced gas exchangeBMI ≥30, awake PaCO2 ≥45 mmHg, other causes excludedCauses prolonged nocturnal O2 desaturation and elevated CO2Increased risk of pulmonary HTN and consequent HF AASM scoring (either):a. PaCO2 or surrogate >55 mmHg for ≥10 minb. PaCO2 rise ≥10 mmHg vs awake supine to >50 mmHg… Continue reading →

Central Sleep Apnea (CSA)

Def: Recurrent cessation or reduction of airflow during sleep due to absent or reduced respiratory effortCaused by loss of central drive from the brainstem, not airway obstruction Associated conditions Cheyne-Stokes Respiration (CSR): CSA is of particular clinical relevance in HF. Crescendo-decrescendo pattern, vigorous effort gradually dwindles until breathing stops TreatmentFocus on improving or removing underlying… Continue reading →

Upper Airway Resistance Syndrome (UARS)

Def: Increased upper airway resistance during sleep causing repeated respiratory effort-related arousals (RERAs)At sleep onset, dilator muscle tone falls and upper airway narrowsSignificant rise in airflow resistance increases inspiratory effort until pt arouses from sleepNo apneas, hypopneas or desaturations as seen in OSA, pts keep breathing and do not desaturateRepeated arousals fragment sleep and cause… Continue reading →

Obstructive Sleep Apnea

Def: Recurrent episodes of complete (apnea) or partial (hypopnea) upper airway collapse during sleep, despite ongoing respiratory effort, Leads to intermittent hypoxia, sleep fragmentation and arousalsMost common type of SDB of medical concernOSA + excessive daytime sleepiness = OSA syndromeAffects up to 10% of middle-aged men and 3% of middle-aged women Severity: Mild OSA: AHI… Continue reading →