Sleep-Wake Disorders

Match each clinical presentation to the most accurate sleep-wake disorder diagnosis.

A 68-year-old retired mechanic is brought to the clinic by his wife due to excessive daytime sleepiness and frequent nighttime awakenings over the past two months. His wife reports that he sleeps restlessly and has episodes where he completely stops breathing for about 20 seconds at a time. The patient has a history of a myocardial infarction four years ago, type 2 diabetes mellitus, and hypertension. His current medications include metformin, low-dose aspirin, and amlodipine. Vital signs are temperature 37.0°C (98.6°F), blood pressure 118/76 mmHg, heart rate 92/min, and respiratory rate 18/min. BMI is $26 \text{ kg/m}^2$. Physical examination reveals a laterally displaced point of maximal impulse, a faint third heart sound (S3), and trace bilateral lower extremity pitting edema. A polysomnography study demonstrates recurrent episodes of apnea without associated chest or abdominal wall movement, occurring between periods of a crescendo-decrescendo breathing pattern. Which of the following is the most appropriate initial step in the management of this patient's sleep disorder?

A 38-year-old woman comes to the clinic reporting persistent daytime fatigue and sleepiness for the past 14 months. She works as a software engineer and frequently dozes off at her desk during the mid-afternoon, occasionally making embarrassing errors in her code. She goes to bed at 10:30 PM and wakes up at 6:30 AM daily, feeling relatively refreshed initially, but severe sleepiness returns by midday. She reports that occasionally, right before drifting off to sleep at night, she hears unfamiliar voices calling her name in the room, though she lives alone. She has no episodes of sudden muscle weakness when laughing or angry. Her medical history is unremarkable, and she takes no medications. Physical examination is within normal limits. An overnight polysomnogram (PSG) reveals a total sleep time of 7.9 hours, an apnea-hypopnea index of 1.5 events/hour, and a rapid eye movement (REM) sleep latency of 10 minutes. The next day, a multiple sleep latency test (MSLT) demonstrates a mean sleep latency of 5.5 minutes and 1 sleep-onset REM period (SOREMP). Which of the following is the most appropriate next step in the management of this patient?

A 20-year-old man presents to the university health clinic complaining of excessive daytime sleepiness that has progressively worsened over the past 8 months. He reports struggling to stay awake during lectures and has fallen asleep several times while eating meals. The patient also describes episodes where he suddenly loses muscle tone in his knees when he hears a funny joke, causing him to occasionally fall to the floor. He remains fully awake and aware of his surroundings during these brief events. Additionally, he mentions seeing vivid, frightening shadows in his room just before he falls asleep at night. He has no past medical history, does not use illicit drugs, and takes no medications. Vital signs and physical examination are unremarkable. Which of the following is the most likely diagnosis?

Match each clinical presentation with the most likely sleep-wake disorder diagnosis.

A 45-year-old woman presents to the clinic with a 6-month history of difficulty falling asleep and staying asleep. She states that her sleep problems began after a stressful period at work but have persisted despite the stress resolving. She reports daytime fatigue that is noticeably affecting her job performance. She has no other medical conditions and takes no medications. Arrange the following steps in the most appropriate chronological sequence for the standard clinical management of this patient's condition.

Evaluated in the sleep clinic is a young adult university student reporting a two-year history of debilitating daytime hypersomnolence. The patient frequently falls asleep during interactive seminars despite maintaining a self-reported 8-hour nightly sleep schedule. In addition, the patient describes recent episodes where hearing a funny joke causes transient buckling of the knees and jaw drooping, with preserved consciousness throughout the event. Suspecting a specific central disorder of hypersomnolence, the clinician plans a comprehensive evaluation and treatment strategy. Arrange the following diagnostic and therapeutic steps in the most appropriate, guideline-directed chronological sequence for the management of this patient.

A 42-year-old high school teacher presents for evaluation of a 7-month history of difficulty initiating sleep and frequent, prolonged nocturnal awakenings. The patient reports spending over 9 hours in bed each night in a desperate attempt to feel rested, but estimates achieving only 4 to 5 hours of total sleep. The resulting severe daytime fatigue has begun to impair her teaching performance and daily functioning. She denies snoring, witnessed apneic events, or an urge to move her legs at rest. Physical examination, neurologic assessment, and routine laboratory studies are unremarkable.

Arrange the following clinical interventions in the most appropriate chronological sequence for the evidence-based, stepped-care management of this patient's condition, proceeding from initial assessment to subsequent escalations for refractory symptoms.

A 52-year-old woman comes to the primary care clinic for evaluation of sleep disturbance and leg discomfort over the past 3 months. She describes a deep, "crawling" sensation in her calves and thighs that begins almost exclusively when she lies down in bed or relaxes on the couch in the evening. The sensation is accompanied by an irresistible urge to move her legs, and she must pace the hallway for several minutes to find temporary relief. She has no symptoms during the day and sits calmly throughout the examination. Her medical history is significant for bipolar I disorder, hyperlipidemia, and uterine leiomyomas causing heavy menstrual bleeding. Current medications include lithium, lurasidone, and atorvastatin. Vital signs are normal. Neurological examination shows no resting tremor, rigidity, or focal deficits. Laboratory testing reveals a hemoglobin of $11.2 \text{ g/dL}$, mean corpuscular volume of $76 \text{ fL}$, and serum ferritin of $18 \text{ ng/mL}$ (Normal: $15-200 \text{ ng/mL}$). Which of the following is the most appropriate next step in the management of this patient's sleep-related symptoms?

A 31-year-old man comes to the clinic accompanied by his husband due to daytime sleep attacks and episodes of sudden muscle weakness. Over the last 5 months, he has been sleeping 9 to 10 hours per night but still struggles to stay awake during his work as a financial analyst. He reports that when he laughs heartily at a joke, his knees buckle and he occasionally drops his briefcase, though he remains fully conscious. Last month, while falling asleep, he saw a terrifying shadowy figure in his room and was unable to move his limbs for approximately a minute. His medical history is notable for a manic episode at age 22, leading to a diagnosis of bipolar I disorder. He was previously taking valproate but discontinued it a year ago due to weight gain. He is currently taking only tranylcypromine, which was prescribed 2 months ago for an acute depressive episode. Vital signs are within normal limits. Physical examination is unremarkable. Laboratory studies show a thyroid-stimulating hormone (TSH) level of 7.2 µU/mL (normal: 0.5-5.0 µU/mL) and a free thyroxine (T4) level of 1.2 ng/dL (normal: 0.9-1.7 ng/dL).

Which of the following is the most appropriate pharmacotherapy for this patient's sleep-related symptoms?

A 58-year-old man presents to the clinic for evaluation of progressive fatigue and poor concentration over the past 6 months. He states that he sleeps 8 hours each night but frequently awakens feeling unrefreshed and with a diffuse morning headache. His wife reports that he snores loudly and occasionally appears to stop breathing for short periods, often waking up with a sudden gasp. He consumes 2 to 3 alcoholic beverages nightly. His medical history includes type 2 diabetes mellitus and hypertension. Current medications are metformin and lisinopril. BMI is $34 \text{ kg/m}^2$. Blood pressure is $152/94 \text{ mmHg}$, pulse is $78 \text{/min}$, and respirations are $14 \text{/min}$. Cardiopulmonary examination reveals clear lungs bilaterally, regular heart rhythm without murmurs, and no jugular venous distention. Laboratory studies show a normal serum thyroid-stimulating hormone concentration. Which of the following is the most appropriate next step in management?

An otherwise healthy 22-year-old college student seeks medical advice because of irrepressible daytime sleepiness that has been present for the last six months. She consistently falls asleep during her morning lectures and on the bus commute, despite maintaining a regular schedule of eight hours of sleep per night. She notes that her nighttime sleep is frequently fragmented. When asked about other symptoms, she describes several alarming episodes where her knees suddenly buckled and she experienced transient facial weakness specifically when laughing at a friend's joke, forcing her to sit down immediately. Additionally, she reports occasionally seeing a frightening, shadowy figure in her room just as she is drifting off to sleep. Her medical history is unremarkable, and she takes no medications or illicit substances. Vital signs and physical examination are within normal limits. Which of the following is most likely to be found during further evaluation of this patient?

A 68-year-old man is brought to the clinic by his husband. For the past 8 months, the patient has experienced episodes of shouting, thrashing, and kicking during sleep, typically occurring in the early morning hours. During a recent episode, he accidentally struck his husband in the face. When awakened from these events, the patient reports vivid, action-packed dreams in which he is defending himself from intruders. He has no history of head trauma, seizures, or psychiatric illness. Current medications include a daily multivitamin. Vital signs are within normal limits, and the physical examination, including a detailed neurologic assessment, reveals no abnormalities.

Arrange the following steps in the most appropriate chronological sequence for the diagnostic evaluation and longitudinal management of this patient.

A 31-year-old woman, gravida 2, para 1, at 28 weeks gestation is evaluated in the outpatient clinic for severe insomnia. Over the past month, she has been unable to fall asleep because of an uncomfortable, aching sensation deep within her calves. She states, "I feel an overwhelming urge to move my legs to make the feeling stop." These symptoms occur exclusively when she lies down to rest at night and improve significantly when she gets out of bed and paces around the house. Her medical history includes generalized anxiety disorder, which has been stable on sertraline for the past two years. Her prenatal course has been uncomplicated, and vital signs are normal. Neurological examination reveals normal muscle strength, tone, and deep tendon reflexes in the lower extremities. Which of the following is the most appropriate initial step in the evaluation or management of this patient's sleep complaint?

Match each polysomnography (PSG) or Multiple Sleep Latency Test (MSLT) finding to the most appropriate sleep-wake disorder diagnosis.

An occupational health physician is evaluating a 49-year-old male warehouse manager due to unintended sleep episodes at work over the past 7 months. The patient states, 'No matter how early I go to bed, I wake up with a morning headache and feel exhausted.' His bed partner recently moved to a separate bedroom due to his disruptive, loud snoring and intermittent gasping sounds during the night. Medical history is notable for essential hypertension and bipolar II disorder, which has been stable on lamotrigine for five years. Current medications include lisinopril and lamotrigine. His body mass index is $36 \text{ kg/m}^2$. Vital signs are within normal limits. Physical examination reveals a crowded oropharynx and 1+ bilateral pitting edema in the lower extremities. Laboratory studies reveal a normal thyroid-stimulating hormone level of $1.9 \text{ \mu U/mL}$ and a normal free T4 level. The patient expresses concern because a previous physician mentioned a 'borderline low thyroid hormone' level years ago. Which of the following is the most appropriate next step in the management of this patient?

A 26-year-old woman is evaluated in the sleep clinic for a 1-year history of irresistible daytime sleep attacks. She reports frequently falling asleep during meetings and while driving. Additionally, she experiences vivid, frightening hallucinations just as she is falling asleep, and transient periods of bilateral leg weakness triggered by sudden laughter. She takes no medications and her physical examination is unremarkable. Arrange the following steps in the most appropriate chronological sequence for the diagnostic evaluation and step-wise pharmacological management of this patient.

A 5-year-old boy is brought to the pediatric clinic by his parents due to distressing nighttime episodes that have occurred once or twice a week for the past 3 months. Typically, about 90 to 120 minutes after falling asleep, the child abruptly sits up in bed, screams loudly, and breathes heavily. His parents state that he appears terrified, is dripping with sweat, and thrashes his arms defensively. When they attempt to comfort him, he stares blankly, does not recognize them, and violently resists their attempts to console him. The episodes last 5 to 10 minutes, after which he lies down and peacefully sleeps through the rest of the night. In the morning, he has no memory of the events and acts completely normal. His past medical history is unremarkable, and he is meeting all developmental milestones. The parents are exhausted and extremely worried about a potential underlying psychological or neurological problem. Which of the following is the most appropriate next step in management?