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Advanced sleep phase syndrome 1(FASPS1)

MedGen UID:
813657
•Concept ID:
C3807327
•
Disease or Syndrome
Synonym: Familial advanced sleep phase syndrome 1
 
Gene (location): PER2 (2q37.3)
 
Monarch Initiative: MONDO:0011442
OMIM®: 604348

Definition

Advanced sleep phase syndrome is characterized by very early sleep onset and offset (summary by Jones et al., 1999). Genetic Heterogeneity of Advanced Sleep Phase Syndrome See also FASPS2 (615224), caused by mutation in the CSNK1D gene (600864) on chromosome 17q25, and FASPS3 (616882), caused by mutation in the PER3 gene (603427) on chromosome 1p36. [from OMIM]

Clinical features

From HPO
Depression
MedGen UID:
4229
•Concept ID:
C0011581
•
Mental or Behavioral Dysfunction
Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.
See: Feature record | Search on this feature
Circadian rhythm sleep disorder
MedGen UID:
167920
•Concept ID:
C0877792
•
Pathologic Function
Any abnormality of an individual's circadian rhythm that affects the timing of sleeping and being awake is referred to as a sleep-wake disorder.
See: Feature record | Search on this feature
Early chronotype
MedGen UID:
1646349
•Concept ID:
C4703587
•
Finding
A tendency towards rising very early in the morning and going to bed early in the evening.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Insomnia in neurological disorders: Prevalence, mechanisms, impact and treatment approaches.
de Bergeyck R, Geoffroy PA
Rev Neurol (Paris) 2023 Oct;179(7):767-781. Epub 2023 Aug 22 doi: 10.1016/j.neurol.2023.08.008. PMID: 37620177
Circadian Rhythm Sleep-Wake Disorders: a Contemporary Review of Neurobiology, Treatment, and Dysregulation in Neurodegenerative Disease.
Steele TA, St Louis EK, Videnovic A, Auger RR
Neurotherapeutics 2021 Jan;18(1):53-74. Epub 2021 Apr 12 doi: 10.1007/s13311-021-01031-8. PMID: 33844152Free PMC Article
British Association for Psychopharmacology consensus statement on evidence-based treatment of insomnia, parasomnias and circadian rhythm disorders: An update.
Wilson S, Anderson K, Baldwin D, Dijk DJ, Espie A, Espie C, Gringras P, Krystal A, Nutt D, Selsick H, Sharpley A
J Psychopharmacol 2019 Aug;33(8):923-947. Epub 2019 Jul 4 doi: 10.1177/0269881119855343. PMID: 31271339

Recent clinical studies

Etiology

Evaluation of Sleep Habits and Disturbances Among US Adults, 2017-2020.
Di H, Guo Y, Daghlas I, Wang L, Liu G, Pan A, Liu L, Shan Z
JAMA Netw Open 2022 Nov 1;5(11):e2240788. doi: 10.1001/jamanetworkopen.2022.40788. PMID: 36346632Free PMC Article
Disturbance of the Circadian System in Shift Work and Its Health Impact.
Boivin DB, Boudreau P, Kosmadopoulos A
J Biol Rhythms 2022 Feb;37(1):3-28. Epub 2021 Dec 30 doi: 10.1177/07487304211064218. PMID: 34969316Free PMC Article
Sleep disorders in people with type 2 diabetes and associated health outcomes: a review of the literature.
Schipper SBJ, Van Veen MM, Elders PJM, van Straten A, Van Der Werf YD, Knutson KL, Rutters F
Diabetologia 2021 Nov;64(11):2367-2377. Epub 2021 Aug 16 doi: 10.1007/s00125-021-05541-0. PMID: 34401953Free PMC Article
Negative impacts of shiftwork and long work hours.
Caruso CC
Rehabil Nurs 2014 Jan-Feb;39(1):16-25. Epub 2013 Jun 18 doi: 10.1002/rnj.107. PMID: 23780784Free PMC Article
Circadian typology: a comprehensive review.
Adan A, Archer SN, Hidalgo MP, Di Milia L, Natale V, Randler C
Chronobiol Int 2012 Nov;29(9):1153-75. Epub 2012 Sep 24 doi: 10.3109/07420528.2012.719971. PMID: 23004349

Diagnosis

The Role of Circadian Rhythms and Sleep in Anorexia Nervosa.
Wilcox H, Paz V, Saxena R, Winkelman JW, Garfield V, Dashti HS
JAMA Netw Open 2024 Jan 2;7(1):e2350358. doi: 10.1001/jamanetworkopen.2023.50358. PMID: 38175645Free PMC Article
Common Sleep Disorders Affecting Older Adults.
Jaqua EE, Hanna M, Labib W, Moore C, Matossian V
Perm J 2023 Mar 15;27(1):122-132. Epub 2022 Dec 12 doi: 10.7812/TPP/22.114. PMID: 36503403Free PMC Article
Sleep and epilepsy: A snapshot of knowledge and future research lines.
Nobili L, Frauscher B, Eriksson S, Gibbs SA, Halasz P, Lambert I, Manni R, Peter-Derex L, Proserpio P, Provini F, de Weerd A, Parrino L
J Sleep Res 2022 Aug;31(4):e13622. Epub 2022 Apr 29 doi: 10.1111/jsr.13622. PMID: 35487880Free PMC Article
Sleep disorders in people with type 2 diabetes and associated health outcomes: a review of the literature.
Schipper SBJ, Van Veen MM, Elders PJM, van Straten A, Van Der Werf YD, Knutson KL, Rutters F
Diabetologia 2021 Nov;64(11):2367-2377. Epub 2021 Aug 16 doi: 10.1007/s00125-021-05541-0. PMID: 34401953Free PMC Article
Circadian Rhythm Sleep-Wake Disorders: a Contemporary Review of Neurobiology, Treatment, and Dysregulation in Neurodegenerative Disease.
Steele TA, St Louis EK, Videnovic A, Auger RR
Neurotherapeutics 2021 Jan;18(1):53-74. Epub 2021 Apr 12 doi: 10.1007/s13311-021-01031-8. PMID: 33844152Free PMC Article

Therapy

Medicinal cannabis improves sleep in adults with insomnia: a randomised double-blind placebo-controlled crossover study.
Ried K, Tamanna T, Matthews S, Sali A
J Sleep Res 2023 Jun;32(3):e13793. Epub 2022 Dec 20 doi: 10.1111/jsr.13793. PMID: 36539991
Disturbance of the Circadian System in Shift Work and Its Health Impact.
Boivin DB, Boudreau P, Kosmadopoulos A
J Biol Rhythms 2022 Feb;37(1):3-28. Epub 2021 Dec 30 doi: 10.1177/07487304211064218. PMID: 34969316Free PMC Article
The Impact of Shift Work on Sleep, Alertness and Performance in Healthcare Workers.
Ganesan S, Magee M, Stone JE, Mulhall MD, Collins A, Howard ME, Lockley SW, Rajaratnam SMW, Sletten TL
Sci Rep 2019 Mar 15;9(1):4635. doi: 10.1038/s41598-019-40914-x. PMID: 30874565Free PMC Article
Sleep and Circadian Rhythm in Critical Illness.
Telias I, Wilcox ME
Crit Care 2019 Mar 9;23(1):82. doi: 10.1186/s13054-019-2366-0. PMID: 30850003Free PMC Article
The effect of blue-light blocking spectacle lenses on visual performance, macular health and the sleep-wake cycle: a systematic review of the literature.
Lawrenson JG, Hull CC, Downie LE
Ophthalmic Physiol Opt 2017 Nov;37(6):644-654. doi: 10.1111/opo.12406. PMID: 29044670

Prognosis

Sleep, circadian system and traumatic stress.
Agorastos A, Olff M
Eur J Psychotraumatol 2021;12(1):1956746. Epub 2021 Sep 28 doi: 10.1080/20008198.2021.1956746. PMID: 34603634Free PMC Article
Sleep Irregularity and Risk of Cardiovascular Events: The Multi-Ethnic Study of Atherosclerosis.
Huang T, Mariani S, Redline S
J Am Coll Cardiol 2020 Mar 10;75(9):991-999. doi: 10.1016/j.jacc.2019.12.054. PMID: 32138974Free PMC Article
Circadian rhythm disruption and mental health.
Walker WH 2nd, Walton JC, DeVries AC, Nelson RJ
Transl Psychiatry 2020 Jan 23;10(1):28. doi: 10.1038/s41398-020-0694-0. PMID: 32066704Free PMC Article
Investigating causal relations between sleep traits and risk of breast cancer in women: mendelian randomisation study.
Richmond RC, Anderson EL, Dashti HS, Jones SE, Lane JM, Strand LB, Brumpton B, Rutter MK, Wood AR, Straif K, Relton CL, Munafò M, Frayling TM, Martin RM, Saxena R, Weedon MN, Lawlor DA, Smith GD
BMJ 2019 Jun 26;365:l2327. doi: 10.1136/bmj.l2327. PMID: 31243001Free PMC Article
Adverse metabolic and cardiovascular consequences of circadian misalignment.
Scheer FA, Hilton MF, Mantzoros CS, Shea SA
Proc Natl Acad Sci U S A 2009 Mar 17;106(11):4453-8. Epub 2009 Mar 2 doi: 10.1073/pnas.0808180106. PMID: 19255424Free PMC Article

Clinical prediction guides

Uncovering the Novel Role of NR1D1 in Regulating BNIP3-Mediated Mitophagy in Ulcerative Colitis.
Chen Y, Li J, Li S, Cheng Y, Fu X, Li J, Zhu L
Int J Mol Sci 2023 Sep 18;24(18) doi: 10.3390/ijms241814222. PMID: 37762536Free PMC Article
Sleep, circadian system and traumatic stress.
Agorastos A, Olff M
Eur J Psychotraumatol 2021;12(1):1956746. Epub 2021 Sep 28 doi: 10.1080/20008198.2021.1956746. PMID: 34603634Free PMC Article
Sleep disorders in people with type 2 diabetes and associated health outcomes: a review of the literature.
Schipper SBJ, Van Veen MM, Elders PJM, van Straten A, Van Der Werf YD, Knutson KL, Rutters F
Diabetologia 2021 Nov;64(11):2367-2377. Epub 2021 Aug 16 doi: 10.1007/s00125-021-05541-0. PMID: 34401953Free PMC Article
Rhythms of life: circadian disruption and brain disorders across the lifespan.
Logan RW, McClung CA
Nat Rev Neurosci 2019 Jan;20(1):49-65. doi: 10.1038/s41583-018-0088-y. PMID: 30459365Free PMC Article
Irregular sleep/wake patterns are associated with poorer academic performance and delayed circadian and sleep/wake timing.
Phillips AJK, Clerx WM, O'Brien CS, Sano A, Barger LK, Picard RW, Lockley SW, Klerman EB, Czeisler CA
Sci Rep 2017 Jun 12;7(1):3216. doi: 10.1038/s41598-017-03171-4. PMID: 28607474Free PMC Article

Recent systematic reviews

Sleep disturbances during the COVID-19 pandemic: A systematic review, meta-analysis, and meta-regression.
Jahrami HA, Alhaj OA, Humood AM, Alenezi AF, Fekih-Romdhane F, AlRasheed MM, Saif ZQ, Bragazzi NL, Pandi-Perumal SR, BaHammam AS, Vitiello MV
Sleep Med Rev 2022 Apr;62:101591. Epub 2022 Jan 22 doi: 10.1016/j.smrv.2022.101591. PMID: 35131664Free PMC Article
Effects of a Short Daytime Nap on the Cognitive Performance: A Systematic Review and Meta-Analysis.
Dutheil F, Danini B, Bagheri R, Fantini ML, Pereira B, Moustafa F, Trousselard M, Navel V
Int J Environ Res Public Health 2021 Sep 28;18(19) doi: 10.3390/ijerph181910212. PMID: 34639511Free PMC Article
Migraine and sleep disorders: a systematic review.
Tiseo C, Vacca A, Felbush A, Filimonova T, Gai A, Glazyrina T, Hubalek IA, Marchenko Y, Overeem LH, Piroso S, Tkachev A, Martelletti P, Sacco S; European Headache Federation School of Advanced Studies (EHF-SAS)
J Headache Pain 2020 Oct 27;21(1):126. doi: 10.1186/s10194-020-01192-5. PMID: 33109076Free PMC Article
Shift Work and Poor Mental Health: A Meta-Analysis of Longitudinal Studies.
Torquati L, Mielke GI, Brown WJ, Burton NW, Kolbe-Alexander TL
Am J Public Health 2019 Nov;109(11):e13-e20. Epub 2019 Sep 19 doi: 10.2105/AJPH.2019.305278. PMID: 31536404Free PMC Article
The effect of blue-light blocking spectacle lenses on visual performance, macular health and the sleep-wake cycle: a systematic review of the literature.
Lawrenson JG, Hull CC, Downie LE
Ophthalmic Physiol Opt 2017 Nov;37(6):644-654. doi: 10.1111/opo.12406. PMID: 29044670

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