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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.
Apneic episodes in infancy
MedGen UID:
814310
Concept ID:
C3807980
Finding
Recurrent episodes of apnea occurring during infancy.
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.

Term Hierarchy

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

Professional guidelines

PubMed

Bryson LJ, Joss S
Arch Dis Child Educ Pract Ed 2022 Oct;107(5):383-385. Epub 2021 Jan 12 doi: 10.1136/archdischild-2020-320835. PMID: 33436404
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
Gelfer P, Tatum M
J Pediatr Health Care 2014 Sep-Oct;28(5):470-4. Epub 2014 Jun 16 doi: 10.1016/j.pedhc.2014.04.007. PMID: 24944089

Recent clinical studies

Etiology

MacFarlane PM
Pediatr Res 2024 Mar;95(4):885-886. Epub 2023 Dec 15 doi: 10.1038/s41390-023-02966-8. PMID: 38097722
Jullien S
BMC Pediatr 2021 Sep 8;21(Suppl 1):320. doi: 10.1186/s12887-021-02536-z. PMID: 34496779Free PMC Article
Straw J, Jones P
Nurs Child Young People 2017 Dec 5;29(10):24-29. doi: 10.7748/ncyp.2017.e945. PMID: 29206359
Creery D, Mikrogianakis A
Am Fam Physician 2003 Oct 1;68(7):1375-6. PMID: 14567492
Nagler J
Curr Opin Pediatr 2002 Apr;14(2):247-50. doi: 10.1097/00008480-200204000-00018. PMID: 11981299

Diagnosis

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
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
Moon RY; TASK FORCE ON SUDDEN INFANT DEATH SYNDROME
Pediatrics 2016 Nov;138(5) doi: 10.1542/peds.2016-2940. PMID: 27940805
Moon RY, Fu LY
Pediatr Rev 2007 Jun;28(6):209-14. doi: 10.1542/pir.28-6-209. PMID: 17545332
Polin RA, Brown LW
Pediatr Clin North Am 1979 May;26(2):345-54. doi: 10.1016/s0031-3955(16)33710-5. PMID: 379778

Therapy

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
Straw J, Jones P
Nurs Child Young People 2017 Dec 5;29(10):24-29. doi: 10.7748/ncyp.2017.e945. PMID: 29206359
Horne RS, Hauck FR, Moon RY
BMJ 2015 Apr 28;350:h1989. doi: 10.1136/bmj.h1989. PMID: 25921604
Moon RY, Fu LY
Pediatr Rev 2007 Jun;28(6):209-14. doi: 10.1542/pir.28-6-209. PMID: 17545332
Polin RA, Brown LW
Pediatr Clin North Am 1979 May;26(2):345-54. doi: 10.1016/s0031-3955(16)33710-5. PMID: 379778

Prognosis

Moon RY; TASK FORCE ON SUDDEN INFANT DEATH SYNDROME
Pediatrics 2016 Nov;138(5) doi: 10.1542/peds.2016-2940. PMID: 27940805
Horne RS, Hauck FR, Moon RY
BMJ 2015 Apr 28;350:h1989. doi: 10.1136/bmj.h1989. PMID: 25921604
Creery D, Mikrogianakis A
Am Fam Physician 2003 Oct 1;68(7):1375-6. PMID: 14567492
Carbone MT
N J Med 1992 Sep;89(9):684-6. PMID: 1436732
Meyer RJ
N Engl J Med 1973 Feb 8;288(6):324. doi: 10.1056/NEJM197302082880621. PMID: 4682681

Clinical prediction guides

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
Jullien S
BMC Pediatr 2021 Sep 8;21(Suppl 1):320. doi: 10.1186/s12887-021-02536-z. PMID: 34496779Free PMC Article
Hauck FR, Tanabe KO
BMJ Clin Evid 2009 Jun 5;2009 PMID: 21726486Free PMC Article
Goldwater PN
Arch Dis Child 2003 Dec;88(12):1095-100. doi: 10.1136/adc.88.12.1095. PMID: 14670779Free PMC Article
Steinschneider A
Pediatrics 1972 Oct;50(4):646-54. PMID: 4342142

Recent systematic reviews

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
Mileva-Seitz VR, Bakermans-Kranenburg MJ, Battaini C, Luijk MP
Sleep Med Rev 2017 Apr;32:4-27. Epub 2016 Mar 15 doi: 10.1016/j.smrv.2016.03.003. PMID: 27107752
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
Hauck FR, Tanabe KO
BMJ Clin Evid 2009 Jun 5;2009 PMID: 21726486Free PMC Article
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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