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SUDDEN INFANT DEATH SYNDROME(SIDS)

MedGen UID:
52548
•Concept ID:
C0038644
•
Disease or Syndrome
Synonyms: CAV3-Related Sudden Infant Death Syndrome; SIDS; Sudden Infant Death
SNOMED CT: SIDS - sudden infant death syndrome (51178009); Sudden infant death syndrome (51178009); Unexpected sudden death of infant (51178009); Crib death (51178009); Cot death (51178009)
 
Gene (location): SCN5A (3p22.2)
 
OMIM®: 272120

Definition

Sudden infant death syndrome (SIDS) is a diagnosis of exclusion which should be made only after a thorough autopsy without identification of a specific cause of death (Mage and Donner, 2004). Weese-Mayer et al. (2007) provided a detailed review of genetic factors that have been implicated in SIDS. The authors concluded that SIDS represents more than 1 entity and has a heterogeneous etiology most likely involving several different genetically controlled metabolic pathways. [from OMIM]

Clinical features

From HPO
Sudden death
MedGen UID:
8257
•Concept ID:
C0011071
•
Pathologic Function
Rapid and unexpected death.
See: Feature record | Search on this feature
Apneic episodes in infancy
MedGen UID:
814310
•Concept ID:
C3807980
•
Finding
Recurrent episodes of apnea occurring during infancy.
See: Feature record | Search on this feature
Malignant hyperthermia
MedGen UID:
1830388
•Concept ID:
C5779784
•
Pathologic Function
Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C. Malignant hyperthermia may occur in response to either inhalational anesthetics such as halothane, to muscle relaxants such as succinylcholine, or to exercise.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSUDDEN INFANT DEATH SYNDROME

Professional guidelines

PubMed

Interventions for Tobacco Smoking Cessation in Adults, Including Pregnant Persons: US Preventive Services Task Force Recommendation Statement.
US Preventive Services Task Force, Krist AH, Davidson KW, Mangione CM, Barry MJ, Cabana M, Caughey AB, Donahue K, Doubeni CA, Epling JW Jr, Kubik M, Ogedegbe G, Pbert L, Silverstein M, Simon MA, Tseng CW, Wong JB
JAMA 2021 Jan 19;325(3):265-279. doi: 10.1001/jama.2020.25019. PMID: 33464343
Safe Sleep, Plagiocephaly, and Brachycephaly: Assessment, Risks, Treatment, and When to Refer.
Marshall JM, Shahzad F
Pediatr Ann 2020 Oct 1;49(10):e440-e447. doi: 10.3928/19382359-20200922-02. PMID: 33034660
Emerging Implications of Genetic Testing in Inherited Primary Arrhythmia Syndromes.
Asatryan B, Medeiros-Domingo A
Cardiol Rev 2019 Jan/Feb;27(1):23-33. doi: 10.1097/CRD.0000000000000203. PMID: 29528859

Recent clinical studies

Etiology

Butyrylcholinesterase is a potential biomarker for Sudden Infant Death Syndrome.
Harrington CT, Hafid NA, Waters KA
EBioMedicine 2022 Jun;80:104041. Epub 2022 May 6 doi: 10.1016/j.ebiom.2022.104041. PMID: 35533499Free PMC Article
Sudden infant death syndrome prevention.
Jullien S
BMC Pediatr 2021 Sep 8;21(Suppl 1):320. doi: 10.1186/s12887-021-02536-z. PMID: 34496779Free PMC Article
Sudden infant death syndrome: current perspectives.
Horne RSC
Intern Med J 2019 Apr;49(4):433-438. doi: 10.1111/imj.14248. PMID: 30957377
Parent-infant co-sleeping and the implications for sudden infant death syndrome.
Straw J, Jones P
Nurs Child Young People 2017 Dec 5;29(10):24-29. doi: 10.7748/ncyp.2017.e945. PMID: 29206359
Sudden infant death syndrome.
Adams SM, Ward CE, Garcia KL
Am Fam Physician 2015 Jun 1;91(11):778-83. PMID: 26034855

Diagnosis

Nonsyndromic Craniofacial Disorders.
Watson AL, Winters R
Facial Plast Surg Clin North Am 2024 Feb;32(1):127-139. Epub 2023 Aug 3 doi: 10.1016/j.fsc.2023.06.004. PMID: 37981408
Positional Plagiocephaly and Craniosynostosis.
Santiago GS, Santiago CN, Chwa ES, Purnell CA
Pediatr Ann 2023 Jan;52(1):e10-e17. Epub 2023 Jan 1 doi: 10.3928/19382359-20221114-03. PMID: 36625797
Butyrylcholinesterase is a potential biomarker for Sudden Infant Death Syndrome.
Harrington CT, Hafid NA, Waters KA
EBioMedicine 2022 Jun;80:104041. Epub 2022 May 6 doi: 10.1016/j.ebiom.2022.104041. PMID: 35533499Free PMC Article
Sudden infant death syndrome and inherited cardiac conditions.
Baruteau AE, Tester DJ, Kapplinger JD, Ackerman MJ, Behr ER
Nat Rev Cardiol 2017 Dec;14(12):715-726. Epub 2017 Sep 7 doi: 10.1038/nrcardio.2017.129. PMID: 28880023
SIDS and Other Sleep-Related Infant Deaths: Evidence Base for 2016 Updated Recommendations for a Safe Infant Sleeping Environment.
Moon RY; TASK FORCE ON SUDDEN INFANT DEATH SYNDROME
Pediatrics 2016 Nov;138(5) doi: 10.1542/peds.2016-2940. PMID: 27940805

Therapy

Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial.
Savarirayan R, Wilcox WR, Harmatz P, Phillips J 3rd, Polgreen LE, Tofts L, Ozono K, Arundel P, Irving M, Bacino CA, Basel D, Bober MB, Charrow J, Mochizuki H, Kotani Y, Saal HM, Army C, Jeha G, Qi Y, Han L, Fisheleva E, Huntsman-Labed A, Day J
Lancet Child Adolesc Health 2024 Jan;8(1):40-50. Epub 2023 Nov 18 doi: 10.1016/S2352-4642(23)00265-1. PMID: 37984383
Burden of disease attributable to second-hand smoke exposure: A systematic review.
Carreras G, Lugo A, Gallus S, Cortini B, Fernández E, López MJ, Soriano JB, López-Nicolás A, Semple S, Gorini G; TackSHS Project Investigators
Prev Med 2019 Dec;129:105833. Epub 2019 Sep 7 doi: 10.1016/j.ypmed.2019.105833. PMID: 31505203
Sudden infant death syndrome: current perspectives.
Horne RSC
Intern Med J 2019 Apr;49(4):433-438. doi: 10.1111/imj.14248. PMID: 30957377
Sudden infant death and sleep practices in the Black community.
Stiffler D, Ayres B, Fauvergue C, Cullen D
J Spec Pediatr Nurs 2018 Apr;23(2):e12213. Epub 2018 Feb 25 doi: 10.1111/jspn.12213. PMID: 29479813
Parent-infant co-sleeping and the implications for sudden infant death syndrome.
Straw J, Jones P
Nurs Child Young People 2017 Dec 5;29(10):24-29. doi: 10.7748/ncyp.2017.e945. PMID: 29206359

Prognosis

Deaths: Leading Causes for 2020.
Curtin SC, Tejada-Vera B, Bastian BA
Natl Vital Stat Rep 2023 Dec;72(13):1-115. PMID: 38085308
Sudden Unexpected Infant Deaths: 2015-2020.
Shapiro-Mendoza CK, Woodworth KR, Cottengim CR, Erck Lambert AB, Harvey EM, Monsour M, Parks SE, Barfield WD
Pediatrics 2023 Apr 1;151(4) doi: 10.1542/peds.2022-058820. PMID: 36911916Free PMC Article
Manifestation and Pathogenesis of Sudden Infant Death Syndrome: A Review.
Kaler J, Hussain A, Lee S
Crit Rev Eukaryot Gene Expr 2020;30(2):111-120. doi: 10.1615/CritRevEukaryotGeneExpr.2020033009. PMID: 32558490
SIDS and Other Sleep-Related Infant Deaths: Evidence Base for 2016 Updated Recommendations for a Safe Infant Sleeping Environment.
Moon RY; TASK FORCE ON SUDDEN INFANT DEATH SYNDROME
Pediatrics 2016 Nov;138(5) doi: 10.1542/peds.2016-2940. PMID: 27940805
Sudden infant death syndrome.
Adams SM, Ward CE, Garcia KL
Am Fam Physician 2015 Jun 1;91(11):778-83. PMID: 26034855

Clinical prediction guides

Neonatal respiratory inhibition.
Minowa H
J Matern Fetal Neonatal Med 2022 Dec;35(25):7132-7138. Epub 2021 Jun 28 doi: 10.1080/14767058.2021.1944094. PMID: 34182876
Sudden infant death syndrome prevention.
Jullien S
BMC Pediatr 2021 Sep 8;21(Suppl 1):320. doi: 10.1186/s12887-021-02536-z. PMID: 34496779Free PMC Article
Swaddling and the Risk of Sudden Infant Death Syndrome: A Meta-analysis.
Pease AS, Fleming PJ, Hauck FR, Moon RY, Horne RS, L'Hoir MP, Ponsonby AL, Blair PS
Pediatrics 2016 Jun;137(6) Epub 2016 May 9 doi: 10.1542/peds.2015-3275. PMID: 27244847
Laryngeal inflammation in the sudden infant death syndrome.
Scadding GK, Brock C, Chouiali F, Hamid Q
Curr Pediatr Rev 2014;10(4):309-13. doi: 10.2174/1573396311666150113213133. PMID: 25594528Free PMC Article
Sids.
Hauck FR, Tanabe KO
BMJ Clin Evid 2009 Jun 5;2009 PMID: 21726486Free PMC Article

Recent systematic reviews

Positioning for acute respiratory distress in hospitalised infants and children.
Bhandari AP, Nnate DA, Vasanthan L, Konstantinidis M, Thompson J
Cochrane Database Syst Rev 2022 Jun 6;6(6):CD003645. doi: 10.1002/14651858.CD003645.pub4. PMID: 35661343Free PMC Article
Burden of disease attributable to second-hand smoke exposure: A systematic review.
Carreras G, Lugo A, Gallus S, Cortini B, Fernández E, López MJ, Soriano JB, López-Nicolás A, Semple S, Gorini G; TackSHS Project Investigators
Prev Med 2019 Dec;129:105833. Epub 2019 Sep 7 doi: 10.1016/j.ypmed.2019.105833. PMID: 31505203
Short and long term health effects of parental tobacco smoking during pregnancy and lactation: a descriptive review.
Banderali G, Martelli A, Landi M, Moretti F, Betti F, Radaelli G, Lassandro C, Verduci E
J Transl Med 2015 Oct 15;13:327. doi: 10.1186/s12967-015-0690-y. PMID: 26472248Free PMC Article
Sids.
Hauck FR, Tanabe KO
BMJ Clin Evid 2009 Jun 5;2009 PMID: 21726486Free PMC Article
Swaddling: a systematic review.
van Sleuwen BE, Engelberts AC, Boere-Boonekamp MM, Kuis W, Schulpen TW, L'Hoir MP
Pediatrics 2007 Oct;120(4):e1097-106. doi: 10.1542/peds.2006-2083. PMID: 17908730

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      Clinical tests in GTR
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      OMIM records containing genes associated with phenotypes registered in MedGen
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