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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
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
Congenital central hypoventilation syndrome: An overview of etiopathogenesis, associated pathologies, clinical presentation, and management.
Zaidi S, Gandhi J, Vatsia S, Smith NL, Khan SA
Auton Neurosci 2018 Mar;210:1-9. Epub 2017 Nov 13 doi: 10.1016/j.autneu.2017.11.003. PMID: 29249648

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
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
Sudden infant death syndrome: an update and new perspectives of etiology.
Rubens D, Sarnat HB
Handb Clin Neurol 2013;112:867-74. doi: 10.1016/B978-0-444-52910-7.00008-8. PMID: 23622296

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
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
Death Scene Investigation and Autopsy Practices in Sudden Unexpected Infant Deaths.
Erck Lambert AB, Parks SE, Camperlengo L, Cottengim C, Anderson RL, Covington TM, Shapiro-Mendoza CK
J Pediatr 2016 Jul;174:84-90.e1. Epub 2016 Apr 22 doi: 10.1016/j.jpeds.2016.03.057. PMID: 27113380Free PMC Article

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
Neurological repercussions of neonatal nicotine exposure: A review.
Xavier J, Singh S, Kumari P, Ravichandiran V
Int J Dev Neurosci 2022 Feb;82(1):3-18. Epub 2021 Dec 30 doi: 10.1002/jdn.10163. PMID: 34913189
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
Cot Death: History of an Iatrogenic Disaster.
Obladen M
Neonatology 2018;113(2):162-169. Epub 2017 Dec 15 doi: 10.1159/000481880. PMID: 29241201
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

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
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
SIDS and Other Sleep-Related Infant Deaths: Updated 2016 Recommendations for a Safe Infant Sleeping Environment.
TASK FORCE ON SUDDEN INFANT DEATH SYNDROME
Pediatrics 2016 Nov;138(5) Epub 2016 Oct 24 doi: 10.1542/peds.2016-2938. PMID: 27940804
Sudden infant death syndrome.
Adams SM, Ward CE, Garcia KL
Am Fam Physician 2015 Jun 1;91(11):778-83. PMID: 26034855
Sudden unexpected death in infancy: aetiology, pathophysiology, epidemiology and prevention in 2015.
Fleming PJ, Blair PS, Pease A
Arch Dis Child 2015 Oct;100(10):984-8. Epub 2015 Feb 19 doi: 10.1136/archdischild-2014-306424. PMID: 25699563

Clinical prediction guides

Prenatal and postnatal factors associated with sudden infant death syndrome: an umbrella review of meta-analyses.
Kim TH, Lee H, Woo S, Lee H, Park J, Fond G, Boyer L, Hahn JW, Kang J, Yon DK
World J Pediatr 2024 May;20(5):451-460. Epub 2024 Apr 29 doi: 10.1007/s12519-024-00806-1. PMID: 38684567
Aberrant colon metabolome and the sudden infant death syndrome.
Terry J, Dyer RA
Pediatr Res 2024 Feb;95(3):634-640. Epub 2023 Oct 13 doi: 10.1038/s41390-023-02847-0. PMID: 37833530
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
Death Scene Investigation and Autopsy Practices in Sudden Unexpected Infant Deaths.
Erck Lambert AB, Parks SE, Camperlengo L, Cottengim C, Anderson RL, Covington TM, Shapiro-Mendoza CK
J Pediatr 2016 Jul;174:84-90.e1. Epub 2016 Apr 22 doi: 10.1016/j.jpeds.2016.03.057. PMID: 27113380Free PMC Article

Recent systematic reviews

Prenatal and postnatal factors associated with sudden infant death syndrome: an umbrella review of meta-analyses.
Kim TH, Lee H, Woo S, Lee H, Park J, Fond G, Boyer L, Hahn JW, Kang J, Yon DK
World J Pediatr 2024 May;20(5):451-460. Epub 2024 Apr 29 doi: 10.1007/s12519-024-00806-1. PMID: 38684567
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
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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      Related medical variations
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      Related information in GTR
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      Clinical tests in GTR
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      Related Medical Subject Headings
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      Related records in OMIM
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      OMIM records containing genes associated with phenotypes registered in MedGen
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