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Sleep-wake cycle disturbance

MedGen UID:
371548
Concept ID:
C1833362
Finding
 
HPO: HP:0006979

Definition

Any abnormal alteration of an individuals cricadian rhythm that affects the timing of sleeping and being awake. [from HPO]

Conditions with this feature

Angelman syndrome
MedGen UID:
58144
Concept ID:
C0162635
Disease or Syndrome
Angelman syndrome (AS) is characterized by severe developmental delay or intellectual disability, severe speech impairment, gait ataxia and/or tremulousness of the limbs, and a unique behavior with an inappropriate happy demeanor that includes frequent laughing, smiling, and excitability. Microcephaly and seizures are also common. Developmental delays are first noted at around age six months; however, the unique clinical features of AS do not become manifest until after age one year, and it can take several years before the correct clinical diagnosis is obvious.
Smith-Lemli-Opitz syndrome
MedGen UID:
61231
Concept ID:
C0175694
Disease or Syndrome
Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple anomaly syndrome caused by an abnormality in cholesterol metabolism resulting from deficiency of the enzyme 7-dehydrocholesterol (7-DHC) reductase. It is characterized by prenatal and postnatal growth retardation, microcephaly, moderate to severe intellectual disability, and multiple major and minor malformations. The malformations include distinctive facial features, cleft palate, cardiac defects, underdeveloped external genitalia in males, postaxial polydactyly, and 2-3 syndactyly of the toes. The clinical spectrum is wide and individuals have been described with normal development and only minor malformations.
Alzheimer disease, type 4
MedGen UID:
376072
Concept ID:
C1847200
Disease or Syndrome
Alzheimer disease (AD) is characterized by dementia that typically begins with subtle and poorly recognized failure of memory and slowly becomes more severe and, eventually, incapacitating. Other common findings include confusion, poor judgment, language disturbance, agitation, withdrawal, and hallucinations. Occasionally, seizures, Parkinsonian features, increased muscle tone, myoclonus, incontinence, and mutism occur. Death usually results from general inanition, malnutrition, and pneumonia. The typical clinical duration of the disease is eight to ten years, with a range from one to 25 years. Approximately 25% of all AD is familial (i.e., =2 persons in a family have AD) of which approximately 95% is late onset (age >60-65 years) and 5% is early onset (age <65 years).
Familial advanced sleep phase syndrome 1
MedGen UID:
813657
Concept ID:
C3807327
Disease or Syndrome
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.
Mental retardation, X-linked, syndromic 33
MedGen UID:
895979
Concept ID:
C4225418
Disease or Syndrome
X-linked syndromic mental retardation-33 is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and characteristic facial features (summary by O'Rawe et al., 2015).

Recent clinical studies

Etiology

Hatta K, Kishi Y, Wada K, Takeuchi T, Ito S, Kurata A, Murakami K, Sugita M, Usui C, Nakamura H; DELIRIA-J Group.
J Clin Psychiatry 2017 Sep/Oct;78(8):e970-e979. doi: 10.4088/JCP.16m11194. PMID: 28767209
Kyeong S, Choi SH, Eun Shin J, Lee WS, Yang KH, Chung TS, Kim JJ
Psychiatry Res Neuroimaging 2017 Jun 30;264:10-12. Epub 2017 Apr 4 doi: 10.1016/j.pscychresns.2017.03.017. PMID: 28390292
Bush SH, Lacaze-Masmonteil N, McNamara-Kilian MT, MacDonald AR, Tierney S, Momoli F, Agar M, Currow DC, Lawlor PG
Trials 2016 Aug 11;17:399. doi: 10.1186/s13063-016-1525-8. PMID: 27515515Free PMC Article
Holcomb EM, Towns S, Kamper JE, Barnett SD, Sherer M, Evans C, Nakase-Richardson R
J Head Trauma Rehabil 2016 Mar-Apr;31(2):108-16. doi: 10.1097/HTR.0000000000000206. PMID: 26709584
Yesavage JA, Taylor JL, Kraemer H, Noda A, Friedman L, Tinklenberg JR
Int Psychogeriatr 2002 Mar;14(1):73-81. PMID: 12094910

Diagnosis

Hatta K, Kishi Y, Wada K, Takeuchi T, Ito S, Kurata A, Murakami K, Sugita M, Usui C, Nakamura H; DELIRIA-J Group.
J Clin Psychiatry 2017 Sep/Oct;78(8):e970-e979. doi: 10.4088/JCP.16m11194. PMID: 28767209
Bush SH, Lacaze-Masmonteil N, McNamara-Kilian MT, MacDonald AR, Tierney S, Momoli F, Agar M, Currow DC, Lawlor PG
Trials 2016 Aug 11;17:399. doi: 10.1186/s13063-016-1525-8. PMID: 27515515Free PMC Article
Gardani M, Morfiri E, Thomson A, O'Neill B, McMillan TM
Arch Phys Med Rehabil 2015 Sep;96(9):1691-7.e3. Epub 2015 May 21 doi: 10.1016/j.apmr.2015.05.006. PMID: 26003285
Yesavage JA, Taylor JL, Kraemer H, Noda A, Friedman L, Tinklenberg JR
Int Psychogeriatr 2002 Mar;14(1):73-81. PMID: 12094910
Kokkoris CP, Weitzman ED, Pollak CP, Spielman AJ, Czeisler CA, Bradlow H
Sleep 1978 Winter;1(2):177-90. PMID: 756061

Therapy

Hatta K, Kishi Y, Wada K, Takeuchi T, Ito S, Kurata A, Murakami K, Sugita M, Usui C, Nakamura H; DELIRIA-J Group.
J Clin Psychiatry 2017 Sep/Oct;78(8):e970-e979. doi: 10.4088/JCP.16m11194. PMID: 28767209
Bush SH, Lacaze-Masmonteil N, McNamara-Kilian MT, MacDonald AR, Tierney S, Momoli F, Agar M, Currow DC, Lawlor PG
Trials 2016 Aug 11;17:399. doi: 10.1186/s13063-016-1525-8. PMID: 27515515Free PMC Article
Smolensky MH, Sackett-Lundeen LL, Portaluppi F
Chronobiol Int 2015;32(8):1029-48. Epub 2015 Sep 16 doi: 10.3109/07420528.2015.1072002. PMID: 26374931
Beard H, Luck AJ, Hassiotis S, King B, Trim PJ, Snel MF, Hopwood JJ, Hemsley KM
Mol Genet Metab 2015 May;115(1):33-40. Epub 2015 Mar 12 doi: 10.1016/j.ymgme.2015.03.002. PMID: 25795516
Grover S, Malhotra S, Bharadwaj R, Bn S, Kumar S
Int J Psychiatry Med 2009;39(2):179-87. doi: 10.2190/PM.39.2.f. PMID: 19860076

Prognosis

Holcomb EM, Towns S, Kamper JE, Barnett SD, Sherer M, Evans C, Nakase-Richardson R
J Head Trauma Rehabil 2016 Mar-Apr;31(2):108-16. doi: 10.1097/HTR.0000000000000206. PMID: 26709584
Leonard M, Adamis D, Saunders J, Trzepacz P, Meagher D
Palliat Support Care 2015 Apr;13(2):187-96. Epub 2013 Nov 4 doi: 10.1017/S147895151300093X. PMID: 24183238
Nakase-Richardson R, Sherer M, Barnett SD, Yablon SA, Evans CC, Kretzmer T, Schwartz DJ, Modarres M
Arch Phys Med Rehabil 2013 May;94(5):875-82. Epub 2013 Jan 4 doi: 10.1016/j.apmr.2013.01.001. PMID: 23296143
Leentjens AF, Schieveld JN, Leonard M, Lousberg R, Verhey FR, Meagher DJ
J Psychosom Res 2008 Feb;64(2):219-23. doi: 10.1016/j.jpsychores.2007.11.003. PMID: 18222136
Yesavage JA, Taylor JL, Kraemer H, Noda A, Friedman L, Tinklenberg JR
Int Psychogeriatr 2002 Mar;14(1):73-81. PMID: 12094910

Clinical prediction guides

Hatta K, Kishi Y, Wada K, Takeuchi T, Ito S, Kurata A, Murakami K, Sugita M, Usui C, Nakamura H; DELIRIA-J Group.
J Clin Psychiatry 2017 Sep/Oct;78(8):e970-e979. doi: 10.4088/JCP.16m11194. PMID: 28767209
Holcomb EM, Towns S, Kamper JE, Barnett SD, Sherer M, Evans C, Nakase-Richardson R
J Head Trauma Rehabil 2016 Mar-Apr;31(2):108-16. doi: 10.1097/HTR.0000000000000206. PMID: 26709584
Smolensky MH, Sackett-Lundeen LL, Portaluppi F
Chronobiol Int 2015;32(8):1029-48. Epub 2015 Sep 16 doi: 10.3109/07420528.2015.1072002. PMID: 26374931
Noguera A, Carvajal A, Alonso-Babarro A, Chisholm G, Bruera E, Centeno C
J Pain Symptom Manage 2014 Jan;47(1):189-97. Epub 2013 Jun 21 doi: 10.1016/j.jpainsymman.2013.02.020. PMID: 23796583
Yesavage JA, Taylor JL, Kraemer H, Noda A, Friedman L, Tinklenberg JR
Int Psychogeriatr 2002 Mar;14(1):73-81. PMID: 12094910

Recent systematic reviews

Grover S, Malhotra S, Bharadwaj R, Bn S, Kumar S
Int J Psychiatry Med 2009;39(2):179-87. doi: 10.2190/PM.39.2.f. PMID: 19860076

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