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Hypersomnia

MedGen UID:
214588
Concept ID:
C0917799
Disease or Syndrome; Sign or Symptom
Synonym: Hypersomnias
SNOMED CT: Excessive sleep (77692006); Sleeps too much (77692006); Excessive sleepiness (77692006); Hypersomnia (77692006); Hypersomnia (excessive sleeping) (77692006)
 
HPO: HP:0100786
Monarch Initiative: MONDO:0005466

Definition

Excessive sleepiness or feeling of sleepiness, or difficulty staying awake despite having had adequate sleep, which persists over several days. [from HPO]

Conditions with this feature

Bamforth-Lazarus syndrome
MedGen UID:
343420
Concept ID:
C1855794
Disease or Syndrome
Bamforth-Lazarus syndrome (BAMLAZ) is a rare autosomal recessive disorder characterized by congenital hypothyroidism due to thyroid agenesis or thyroid hypoplasia, cleft palate, and spiky hair, with or without choanal atresia or bifid epiglottis (summary by Sarma et al., 2022).
Spinocerebellar ataxia, autosomal recessive 23
MedGen UID:
1667331
Concept ID:
C4750914
Disease or Syndrome
Autosomal recessive spinocerebellar ataxia-23 is a neurologic disorder characterized by epilepsy, intellectual disability, and gait ataxia (summary by Gomez-Herreros et al., 2014).
Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities
MedGen UID:
1857802
Concept ID:
C5935590
Disease or Syndrome
Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities (NEDPBA) is an autosomal recessive disorder characterized by delayed developmental milestones apparent in late infancy or early childhood, impaired intellectual development with learning difficulties, and behavioral abnormalities. Motor abnormalities, including parkinsonism and spasticity, usually develop in the third or fourth decades, although earlier onset has been reported. Some patients have seizures. There is inter- and intrafamilial variability (Kuipers et al., 2018; Al-Kasbi et al., 2021).
Neuroocular syndrome 1
MedGen UID:
1053724
Concept ID:
CN377731
Disease or Syndrome
Neuroocular syndrome-1 (NOC1) encompasses a broad spectrum of overlapping anomalies, with developmental delay or impaired intellectual development as a consistent finding. Eye abnormalities show marked variability in the type and severity of defects, and include anophthalmia, microphthalmia, and coloboma. Other common systemic features include congenital heart and kidney defects, hypotonia, failure to thrive, and microcephaly (summary by Chowdhury et al., 2021). Genetic Heterogeneity of Neuroocular Syndrome See also NOC2 (168885), caused by mutation in the DAGLA gene (614015) on chromosome 11q12.

Professional guidelines

PubMed

Arnulf I, Thomas R, Roy A, Dauvilliers Y
Sleep Med Rev 2023 Jun;69:101766. Epub 2023 Feb 25 doi: 10.1016/j.smrv.2023.101766. PMID: 36921459
Maski K, Trotti LM, Kotagal S, Robert Auger R, Rowley JA, Hashmi SD, Watson NF
J Clin Sleep Med 2021 Sep 1;17(9):1881-1893. doi: 10.5664/jcsm.9328. PMID: 34743789Free PMC Article
Golden EC, Lipford MC
Cleve Clin J Med 2018 Dec;85(12):959-969. doi: 10.3949/ccjm.85a.17086. PMID: 30526757

Recent clinical studies

Etiology

Pérez-Carbonell L, Mignot E, Leschziner G, Dauvilliers Y
Lancet 2022 Sep 24;400(10357):1033-1046. Epub 2022 Sep 14 doi: 10.1016/S0140-6736(22)01018-2. PMID: 36115367
Panula P
Handb Clin Neurol 2021;180:377-387. doi: 10.1016/B978-0-12-820107-7.00023-9. PMID: 34225942
Gandhi KD, Mansukhani MP, Silber MH, Kolla BP
Mayo Clin Proc 2021 May;96(5):1288-1301. Epub 2021 Apr 9 doi: 10.1016/j.mayocp.2020.08.033. PMID: 33840518
Johns MW
Sleep 1991 Dec;14(6):540-5. doi: 10.1093/sleep/14.6.540. PMID: 1798888
Ford DE, Kamerow DB
JAMA 1989 Sep 15;262(11):1479-84. doi: 10.1001/jama.262.11.1479. PMID: 2769898

Diagnosis

Blattner M, Maski K
Sleep Med Clin 2023 Jun;18(2):183-199. Epub 2023 Mar 8 doi: 10.1016/j.jsmc.2023.01.003. PMID: 37120161
Pérez-Carbonell L, Mignot E, Leschziner G, Dauvilliers Y
Lancet 2022 Sep 24;400(10357):1033-1046. Epub 2022 Sep 14 doi: 10.1016/S0140-6736(22)01018-2. PMID: 36115367
Trotti LM, Arnulf I
Neurotherapeutics 2021 Jan;18(1):20-31. doi: 10.1007/s13311-020-00919-1. PMID: 32901432Free PMC Article
Golden EC, Lipford MC
Cleve Clin J Med 2018 Dec;85(12):959-969. doi: 10.3949/ccjm.85a.17086. PMID: 30526757
Murphy MJ, Peterson MJ
Sleep Med Clin 2015 Mar;10(1):17-23. Epub 2014 Dec 12 doi: 10.1016/j.jsmc.2014.11.009. PMID: 26055669Free PMC Article

Therapy

Qaseem A, Owens DK, Etxeandia-Ikobaltzeta I, Tufte J, Cross JT Jr, Wilt TJ; Clinical Guidelines Committee of the American College of Physicians, Crandall CJ, Balk E, Cooney TG, Fitterman N, Hicks LA, Lin JS, Maroto M, Obley AJ, Tice JA, Yost J
Ann Intern Med 2023 Feb;176(2):239-252. Epub 2023 Jan 24 doi: 10.7326/M22-2056. PMID: 36689752
Bassetti CLA, Kallweit U, Vignatelli L, Plazzi G, Lecendreux M, Baldin E, Dolenc-Groselj L, Jennum P, Khatami R, Manconi M, Mayer G, Partinen M, Pollmächer T, Reading P, Santamaria J, Sonka K, Dauvilliers Y, Lammers GJ
J Sleep Res 2021 Dec;30(6):e13387. Epub 2021 Jun 25 doi: 10.1111/jsr.13387. PMID: 34173288
Trotti LM, Arnulf I
Neurotherapeutics 2021 Jan;18(1):20-31. doi: 10.1007/s13311-020-00919-1. PMID: 32901432Free PMC Article
Choi Y, Raymer BK
Bioorg Med Chem Lett 2019 Aug 15;29(16):2025-2033. Epub 2019 Jun 24 doi: 10.1016/j.bmcl.2019.06.043. PMID: 31307886
K Pavlova M, Latreille V
Am J Med 2019 Mar;132(3):292-299. Epub 2018 Oct 4 doi: 10.1016/j.amjmed.2018.09.021. PMID: 30292731

Prognosis

Barateau L, Pizza F, Chenini S, Peter-Derex L, Dauvilliers Y
Rev Neurol (Paris) 2023 Oct;179(7):727-740. Epub 2023 Aug 25 doi: 10.1016/j.neurol.2023.08.001. PMID: 37634997
Maski K, Trotti LM, Kotagal S, Robert Auger R, Rowley JA, Hashmi SD, Watson NF
J Clin Sleep Med 2021 Sep 1;17(9):1881-1893. doi: 10.5664/jcsm.9328. PMID: 34743789Free PMC Article
Afolabi-Brown O, Mason TBA 2nd
Paediatr Respir Rev 2018 Jan;25:9-13. Epub 2016 Dec 23 doi: 10.1016/j.prrv.2016.12.004. PMID: 28216256
Gadoth N, Oksenberg A
Brain Dev 2017 Sep;39(8):665-671. Epub 2017 Apr 20 doi: 10.1016/j.braindev.2017.04.003. PMID: 28434769
Miglis MG, Guilleminault C
Curr Neurol Neurosci Rep 2016 Jun;16(6):60. doi: 10.1007/s11910-016-0653-6. PMID: 27137943

Clinical prediction guides

Pearson O, Uglik-Marucha N, Miskowiak KW, Cairney SA, Rosenzweig I, Young AH, Stokes PRA
J Affect Disord 2023 Apr 14;327:207-216. Epub 2023 Feb 3 doi: 10.1016/j.jad.2023.01.114. PMID: 36739007
Kappelmann N, Arloth J, Georgakis MK, Czamara D, Rost N, Ligthart S, Khandaker GM, Binder EB
JAMA Psychiatry 2021 Feb 1;78(2):161-170. doi: 10.1001/jamapsychiatry.2020.3436. PMID: 33079133Free PMC Article
Ricoy J, Rodríguez-Núñez N, Álvarez-Dobaño JM, Toubes ME, Riveiro V, Valdés L
Pulmonology 2019 Jul-Aug;25(4):223-235. Epub 2018 Dec 1 doi: 10.1016/j.pulmoe.2018.10.008. PMID: 30509855
Bruni O, Ottaviano S, Guidetti V, Romoli M, Innocenzi M, Cortesi F, Giannotti F
J Sleep Res 1996 Dec;5(4):251-61. doi: 10.1111/j.1365-2869.1996.00251.x. PMID: 9065877
Johns MW
Sleep 1991 Dec;14(6):540-5. doi: 10.1093/sleep/14.6.540. PMID: 1798888

Recent systematic reviews

Pearson O, Uglik-Marucha N, Miskowiak KW, Cairney SA, Rosenzweig I, Young AH, Stokes PRA
J Affect Disord 2023 Apr 14;327:207-216. Epub 2023 Feb 3 doi: 10.1016/j.jad.2023.01.114. PMID: 36739007
De Sutter AI, Eriksson L, van Driel ML
Cochrane Database Syst Rev 2022 Jan 21;1(1):CD004976. doi: 10.1002/14651858.CD004976.pub4. PMID: 35060618Free PMC Article
Maski K, Trotti LM, Kotagal S, Robert Auger R, Rowley JA, Hashmi SD, Watson NF
J Clin Sleep Med 2021 Sep 1;17(9):1881-1893. doi: 10.5664/jcsm.9328. PMID: 34743789Free PMC Article
Bassetti CLA, Kallweit U, Vignatelli L, Plazzi G, Lecendreux M, Baldin E, Dolenc-Groselj L, Jennum P, Khatami R, Manconi M, Mayer G, Partinen M, Pollmächer T, Reading P, Santamaria J, Sonka K, Dauvilliers Y, Lammers GJ
J Sleep Res 2021 Dec;30(6):e13387. Epub 2021 Jun 25 doi: 10.1111/jsr.13387. PMID: 34173288
Hanin C, Arnulf I, Maranci JB, Lecendreux M, Levinson DF, Cohen D, Laurent-Levinson C
Acta Psychiatr Scand 2021 Jul;144(1):28-41. Epub 2021 May 5 doi: 10.1111/acps.13300. PMID: 33779983Free PMC Article

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