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Idiopathic Hypersomnia Diagnosis

Idiopathic hypersomnia (IH) is a neurological sleep disorder characterized by chronic, excessive attacks of drowsiness during the day - excessive daytime sleepiness (EDS) - despite adequate or long sleep amounts. Other hallmark features include non-restorative sleep and extreme difficulty awakening from sleep despite sleeping for 10-11 hours per night which is typical for people with IH.

Misdiagnosis or underdiagnosis of IH is common since sleepiness is a central feature of multiple disorders, secondary symptoms of IH can be seen in other disorders, and because there is no validated biomarker for IH diagnosis. Considerations for differential diagnosis of IH include clinical features of insufficient sleep syndrome, narcolepsy type 1 and 2, delayed sleep phase syndrome, hypersomnia associated with psychiatric disorders, and hypersomnia due to medical disorders.

What are some of the key questions you ask patients to accurately diagnose their sleep disorder? What other approaches, tools, or tests do you use to diagnose idiopathic hypersomnia from other sleep disorders?

Trotti (2017) Sleep Medicine Clinics 12(3):331-344

 

  • 4yr
    Sleep is such an important part of our everyday and it is important to educate on the issues that can come up and when to seek help.
  • 4yr
    use the following scale to evaluate IH: Epworth Sleepiness Scale (ESS) , Patient Global Impression of Change (PGIc) and Idiopathic Hypersomnia Severity Scale (IHSS)—Assesses the severity of idiopathic hypersomnia symptoms, including excessive sleepiness, prolonged sleep duration, cognitive impairment, and sleep inertia
  • 4yr
    I would perform an extensive history including specific questions directed toward mental health…specifically depression and substance abuse. Sleep study, UDS, MRI of head, and CMP, CBC, and thyroid panel.
  • 4yr
    A family history or cataplexy would suggest narcolepsy; need to do complete h and p, sleep study; eppworth sleep scale and rule out depression, other mental illness; consider brain mri.
  • 4yr
    Detailed sleep history. Detailed prior medications used. Detailed current substance or ETOH use. Discuss and educate on sleep hygiene. Discuss prior sleep studies.
  • 4yr
    Detailed history of it including drug use, sleep hygiene, stressors, and other, but comorbidities. I have been an endocrine evaluation including thyroid, hormonal, electrolyte abnormalities. The sleep study and or CT or MRI
  • 4yr
    A sleep study would help with diagnosis in addition to taking a complete history.
  • 4yr
    Detailed history, meds , sleep diary ,sleep study
  • 4yr
    Differentiation of Idiopathic Hyperinsomnia from Narcolepsy is necessary, but patients with IH have no sleep onset REM, IH is not associated with cataplexy. Advent of modern sleep laboratory has aided in the diagnosing these challenging cases.
  • 4yr
    When did it start? Trouble falling or staying asleep? Mind too busy? Stress from recent life events? Pain interfering? Tried any OTCs?? Is it every night? Bedding any issue??
  • 4yr
    I ask about comorbid consitions to make sure it isn't something else but a trial of meds is often easy enough to begin as results happen quickly
  • 4yr
    To diagnose IH, I would take a detailed history and conduct a physical examination, and then order several following tests to support the clinical diagnosis, determine the cause of the condition and rule out other sleep disorders, including Epworth Sleepiness Scale, sleep diary, polysomnogram and MSLT.
  • 4yr
    IH is a clinical diagnosis and is made by No better explanation by another sleep disorder, medical or psychiatric disorder or use of drugs or medications, Would need to have the sleep study done to rule out the other causes , Though none is specific for IH but the sleep studies may show In idiopathic hypersomnia, polysomnography may show a short sleep latency, increased total sleep time, increased sleep spindles, and variable changes in sleep efficiency and sleep stage distribution and The sleep study would show more diagnostic changes of OSA Narcolepsy and Central Sleep Apnea
  • 4yr
    Need a good hx and review meds with a good exam
  • 4yr
    Can consider trail of Nuvigil !
  • 4yr
    History is key….but labs, sleep study are a must. Consult with a sleep specialist also needed depending on results of above. Review all medications they are taking including supplements. Stress, depression, substance abuse as well.
  • 4yr
    Detailed history to include sleep history, medication review to include prescription,OTC,recreational blood work up and PSG will help rule out other causes.Trial of Nuvigil will help too
  • 4yr
    As stated in the synopsis multiple other diagnoses may give a similar presentation to IH. History should therefore confirm there is no drug toxicity, alcohol, endocrine/metabolic abnormalities, severe stressors, or other neurological disorders. This work up should followed up with a sleep study.
  • 4yr
    Detailed history,sleep study and trial of Nuvigil. If it fails get consult with Sleep expert.
  • 4yr
    Take a detailed history including a sleep history to determine a specific diagnosis since many of these cases are actually manifestations of other disease processes. This is followed by a detailed exam, neurological and general. Then run lab testing including looking at metabolic issues and central issues, with MRI scanning of brain.
  • 4yr
    Sticking to a rhythm and routine is super important in this illness. Don’t let the hypersonic disturb the rhythm. Otherwise it becomes a vicious circle.
  • 4yr
    Reviewing symptoms including daytime somnolence & energy level is important
  • 4yr
    Reviewing symptoms including daytime somnolence & energy level is important
  • 4yr
    Reviewing carefully all medications and supplements is necessary
  • 4yr
    Need Assessment of sleep hygiene, complete history and physical and sleep study should be advised
  • 4yr
    really have to take a good history with questions of taking medications that can affect sleep, alcohol and caffeine use, stress, if they take naps, if their sleep is restful, how long a patient sleeps, and weakness brought on by strong emotion (suggestive of cataplexy and diagnosis of narcolepsy). I usually ask patient to fill out an Epworth. I will then do neurological exam. As far as workup, brain imaging and in lab sleep study including MSLT (which cannot be done in a home sleep test) is necessary.
  • 4yr
    History is the most important here since there are no clear tests, but a sleep study in the lab can also shed some light on this condition.
  • 4yr
    Agree with the above -- sleep hygiene assessment is the start, plus review of recent changes in stress, medications/supplements. Another aspect is the acute vs. chronic/recurrent nature of the complaint, and whether there are symptoms of cataplexy, sleep attacks, or excessive daytime sleepiness. If suspect narcolepsy, a CSF evaluation for hypocretin/orexin levels is indicated. This can drive the decision tree for any therapeutic medications in addition to sleep hygiene.
  • 4yr
    Assessment of sleep hygiene is critical, including use of iPad or cell phone during the day late evening hours or during the night.
  • 4yr
    Agree with above - history, physical, and sleep study. Review all medications and supplements.
  • 4yr
    Because no biomarkers exist, it is essential to ask specific questions that can clarity the diagnosis. Asking about sleep onset/latency, sleep hygiene, intermittent awakenings, factors that impact circadian rhythms, medications taking during day and at night, medical conditions that could impair restorive sleep and environmental factors.
    In addition, psychiatric conditions and medications need to be explored.
    Is this new or chronic symptom?
    Daytime sleepiness needs to be explored versus falling asleep while sedentary to rule out narcolepsy.
    Sleep study to rule out sleep apnea is high consideration.
    Assessing metabolic conditions such as thyroid disorders, anemia, respiratory and cardiac conditions should be ordered.
    Epstein sleepiness or other similar scales could be completed.
    Overall, this is a fairly extensive evaluation to ensure all other possibilities are explored.
  • 4yr
    Thorough history, physical,and sleep study
  • 4yr
    Thorough history, physical,and sleep study!
  • 4yr
    I would do a complete hx and PE. I would ask pt to describe his/her symptoms. Ask about medical hx, family hx. Inquire about daytime somnolence, energy level, headache, impaired concentration or function at work/school, hx of depression/ anxiety, ptsd. Would ask about sleep history: regularity, timing, what wakes pt up, daytime naps, pre- bedtime behavior: smoking, etoh, caffeine, exercise), bedroom environment, stressors, restless leg syndrome, snoring, or any other unusual Sleep behavior. Does pt feel refreshed after sleep? This can help distinguish it from narcolepsy. Would ask about all medications pt is taking including herbal meds. Also, what medications have been tried in the past? How effective? Workup including polysomnography. Treatment: emphasize importance of sleep hygiene. Would also ask pt to complete a sleep diary/log.
  • 4yr
    IH symptoms are non specific. I would also check a PSG and MST to assess for possible OSA

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