Primary Hypersomnia Clinical Presentation
- Author: Adrian Preda, MD; Chief Editor: Iqbal Ahmed, MBBS, FRCPsych(UK) more...
The diagnostic criteria of idiopathic hypersomnia in ICSD-2, in addition to the clinical criteria, which are similar to DSM-5 criteria, include 1 or more of the following polysomnographic features :
A sleep period that is normal or prolonged in duration
A sleep latency of less than 10 minutes
Normal REM sleep latency
A sleep latency of less than 10 minutes on the Multiple Sleep Latency Test
Fewer than 2 sleep-onset REM periods
The most typical referral is for the polysymptomatic form of primary hypersomnia and is characterized by the following[5, 21] :
Excessive daytime sleepiness leading to prolonged naps that are not refreshing
Nocturnal sleep of long duration (as much as 12h or more)
These patients do not feel refreshed following naps and, therefore, fight sleepiness as long as they are able. Patients are difficult to awaken from sleep or naps.
Some patients complain of headaches, fainting episodes, orthostatic hypotension, and peripheral vascular complaints of Raynaud phenomenon. Rarely, hypnagogic hallucinations and sleep paralysis may be observed. During long periods of drowsiness, patients might develop automatic behavior, during which they act in a semicontrolled fashion. (During automatic behavior episodes, these patients may endanger themselves through risk of injury.)
In patients with the recurrent form (i.e., Kleine-Levine syndrome), hypersomnia occurs for days to weeks several times a year. In between, patients do not have excessive daytime sleepiness. Some patients may develop symptoms of irritability, hypersexuality, hyperphagia, impulsive behavior, depersonalization, hallucinations, depression, and disorientation.
The patient may appear overtired or even fall asleep in the physician’s office. The rest of the physical examination, however, will not reveal any particular features suggesting a diagnosis of hypersomnolence.
The physical examination goal is to exclude alternate diagnoses. A diagnosis of obstructive sleep apnea rather than hypersomnolence should be considered for a patient presenting with hypersomnia associated with central obesity, micrognathia or retrognathia, macroglossia, crowded oropharynx, nasal obstruction, and tonsillar enlargement.
An underlying rheumatologic disease, such as active rheumatoid arthritis or osteoarthritis, may cause daytime hyperoxia and sleepiness associated with poor nighttime sleep due to pain. Prior head trauma sequela or a current brain tumor can leave their specific mark on the neurologic examination.
Specific findings may suggest a degenerative neurologic condition (e.g., Parkinson or Huntington disease), endocrine dysfunction (e.g., hypothyroidism), viral and bacterial infections (e.g., hypersomnia secondary to viral encephalitis), pulmonary disease with secondary sleep-related breathing difficulties (e.g., chronic bronchitis) or musculoskeletal disorders (e.g., rheumatoid arthritis, fibromyalgia).
An overweight patient with primary hypersomnia should be assessed for underlying endocrine problems and sleep apnea.
If psychomotor retardation or agitation is noted, mental disorders with secondary sleep disturbance need to be ruled out before making a diagnosis of hypersomnolence.
Mental status examination
Major depressive disorder commonly presents with decreased energy and tiredness and atypical depression presents with hypersomnia. Similarly, speech that is soft in quality, with a decreased rate of production and an increased latency of answers, might indicate excessive tiredness, but it may also indicate depression.
Mood might be “down," tired,” or even “depressed,” with mood congruent and a decreased range of affect. If this is the case, the meaning of the words needs to be carefully qualified. Is it that the patient has depression (ie, major depressive disorder) or is it that he/she feels down as a reaction to oversleeping and decreased ability to function?
Thought processes should be coherent and goal directed. While suicidal ideation is not typical for hypersomnolence, because of the overlap between sleeping and affective disorders, standard questioning about the presence of suicidal and homicidal ideation is recommended.
Insight and judgment are most times good. Mild cognitive changes in the domains of attention, concentration and short-term memory are occasionally present, but most often the cognitive examination should not reveal any significant deficits.
On the neurologic examination, patients with Klein-Levin syndrome may present with a number of nonspecific findings including nystagmus, dysarthria, and generalized hyperreflexia.
For secondary Kleine-Levin syndrome, patients tend to be older and have more frequent and longer episodes, but they present with clinical symptoms and treatment responses similar to those of primary cases.
American Psychiatric Association. Primary hypersomnia. Diagnostic and Statistical Manual of Mental Disorders. Text Revision (DSM-IV-TR). 4th Edition. Washington, DC: American Psychiatric Association; 2000. 604-9.
American Academy of Sleep Medicine. The international classification of sleep disorders: diagnostic - coding manual. 2nd ed. Westchester, IL: American Academy of Sleep Medicine; 2005.
Dement W, Rechtschaffen A, Gulevich G. The nature of the narcoleptic sleep attack. Neurology. 1966 Jan. 16(1):18-33. [Medline].
Roth B, Nevsimalova S, Rechtschaffen A. Hypersomnia with "sleep drunkenness". Arch Gen Psychiatry. 1972 May. 26(5):456-62. [Medline].
Roehrs T, Zorick F, Sicklesteel J. Excessive daytime sleepiness associated with insufficient sleep. Sleep. 1983. 6(4):319-25. [Medline].
Billiard M. Diagnosis of narcolepsy and idiopathic hypersomnia. An update based on the International classification of sleep disorders, 2nd edition. Sleep Med Rev. 2007 Oct. 11(5):377-88. [Medline].
Bassetti C, Pelayo R, Guilleminault C. Idiopathic Hypersomnia. Kryger MH, Roth T, Dement WC. Principles and Practices of Sleep Medicine. 4th Edition. Philadelphia, PA: Elsevier; 2005. 791-800.
Roth T. Introduction: narcolepsy and excessive daytime sleepiness: from the bench to the bedside. J Clin Psychiatry. 2007. 68 Suppl 13:4. [Medline].
Guilleminault C. Disorders of excessive sleepiness. Ann Clin Res. 1985. 17(5):209-19. [Medline].
Roth B. Narcolepsy and hypersomnia: review and classification of 642 personally observed cases. Schweiz Arch Neurol Neurochir Psychiatr. 1976. 119(1):31-41. [Medline].
Arnulf I, Zeitzer JM, File J, et al. Kleine-Levin syndrome: a systematic review of 186 cases in the literature. Brain. 2005 Dec. 128(Pt 12):2763-76. [Medline].
Billiard M, Guilleminault C, Dement WC. A menstruation-linked periodic hypersomnia: Kleine-Levin syndrome or new clinical entity?. Neurology. 1975. 25:436-443. [Medline].
Montplaisir J, Poirier G. HLA in disorders of excessive sleepiness without cataplexy in Canada. Honda Y, Juti T. HLA in Narcolepsy. Berlin, Germany: Springer-Verlag; 1988. 186-190.
Guilleminault C, Faull KF, Miles L. Posttraumatic excessive daytime sleepiness: a review of 20 patients. Neurology. 1983 Dec. 33(12):1584-9. [Medline].
Montplaisir J, de Champlain J, Young SN. Narcolepsy and idiopathic hypersomnia: biogenic amines and related compounds in CSF. Neurology. 1982 Nov. 32(11):1299-302. [Medline].
Kanbayashi T, Kodama T, Kondo H, Satoh S, Inoue Y, Chiba S, et al. CSF histamine contents in narcolepsy, idiopathic hypersomnia and obstructive sleep apnea syndrome. Sleep. 2009 Feb 1. 32(2):181-7. [Medline]. [Full Text].
Nishino S, Kanbayashi T. Symptomatic narcolepsy, cataplexy and hypersomnia, and their implications in the hypothalamic hypocretin/orexin system. Sleep Med Rev. 2005 Aug. 9(4):269-310. [Medline].
Yamanaka A, Tsujino N, Funahashi H, Honda K, Guan JL, Wang QP, et al. Orexins activate histaminergic neurons via the orexin 2 receptor. Biochem Biophys Res Commun. 2002. 290:1237-45. [Medline]. [Full Text].
Ohayon MM, Dauvilliers Y, Reynolds CF 3rd. Operational Definitions and Algorithms for Excessive Sleepiness in the General Population: Implications for DSM-5 Nosology. Arch Gen Psychiatry. 2012 Jan. 69(1):71-9. [Medline].
Guilleminault C, Faull KF. Sleepiness in nonnarcoleptic, non-sleep apneic EDS patients: the idiopathic CNS hypersomnolence. Sleep. 1982. 5 Suppl 2:S175-81. [Medline].
Bassetti C, Gugger M, Bischof M. The narcoleptic borderland: a multimodal diagnostic approach including cerebrospinal fluid levels of hypocretin-1 (orexin A). Sleep Med. 2003 Jan. 4(1):7-12. [Medline].
Ohayon MM. From wakefulness to excessive sleepiness: what we know and still need to know. Sleep Med Rev. 2008 Apr. 12(2):129-41. [Medline].
Sangal RB; Mitler MM; Sangal JM. Subjective sleepiness ratings (Epworth sleepiness scale) do not reflect the same parameter of sleepiness as objective sleepiness (maintenance of wakefulness test) in patients with narcolepsy. Clin Neurophysiol. Dec 1999. (110)12:2131-5. [Medline].
Sangal RB, Sangal JM, Belisle C. Subjective and objective indices of sleepiness (ESS and MWT) are not equally useful in patients with sleep apnea. Clin Electroencephalogr. 1999 Apr. 30(2):73-5. [Medline].
Rechtschaffen A, Roth B. Nocturnal sleep of hypersomniacs. Act Nerv Super (Praha). 1969. 11(3):229-33. [Medline].
Anderson KN, Pilsworth S, Sharples LD, Smith IE, Shneerson JM. Idiopathic hypersomnia: a study of 77 cases. Sleep. 2007 Oct 1. 30(10):1274-81. [Medline].
[Guideline] Morgenthaler TI, Kapur VK, Brown T, Swick TJ, Alessi C, Aurora RN, et al. Practice parameters for the treatment of narcolepsy and other hypersomnias of central origin. Sleep. 2007 Dec 1. 30(12):1705-11. [Medline].
Ballon JS, Feifel D. A systematic review of modafinil: Potential clinical uses and mechanisms of action. J Clin Psychiatry. 2006 Apr. 67(4):554-66. [Medline].
Valentino RM, Foldvary-Schaefer N. Modafinil in the treatment of excessive daytime sleepiness. Cleve Clin J Med. 2007 Aug. 74(8):561-6, 568-71. [Medline].
Schwartz JR. Modafinil: new indications for wake promotion. Expert Opin Pharmacother. 2005 Jan. 6(1):115-29. [Medline].
Poppe M, Friebel D, Reuner U, Todt H, Koch R, Heubner G. The Kleine-Levin syndrome - effects of treatment with lithium. Neuropediatrics. 2003. 34:113-9. [Medline].