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Neonatal onset

MedGen UID:
344421
•Concept ID:
C1855106
•
Finding
Synonyms: Onset in first weeks of life; Onset in neonatal period
 
HPO: HP:0003623

Definition

Onset of signs or symptoms of disease within the first 28 days of life. [from HPO]

Professional guidelines

PubMed

Clinical chorioamnionitis at term: definition, pathogenesis, microbiology, diagnosis, and treatment.
Jung E, Romero R, Suksai M, Gotsch F, Chaemsaithong P, Erez O, Conde-Agudelo A, Gomez-Lopez N, Berry SM, Meyyazhagan A, Yoon BH
Am J Obstet Gynecol 2024 Mar;230(3S):S807-S840. Epub 2023 Mar 21 doi: 10.1016/j.ajog.2023.02.002. PMID: 38233317Free PMC Article
Treatment of seizures in the neonate: Guidelines and consensus-based recommendations-Special report from the ILAE Task Force on Neonatal Seizures.
Pressler RM, Abend NS, Auvin S, Boylan G, Brigo F, Cilio MR, De Vries LS, Elia M, Espeche A, Hahn CD, Inder T, Jette N, Kakooza-Mwesige A, Mader S, Mizrahi EM, Moshé SL, Nagarajan L, Noyman I, Nunes ML, Samia P, Shany E, Shellhaas RA, Subota A, Triki CC, Tsuchida T, Vinayan KP, Wilmshurst JM, Yozawitz EG, Hartmann H
Epilepsia 2023 Oct;64(10):2550-2570. Epub 2023 Sep 1 doi: 10.1111/epi.17745. PMID: 37655702
Neonatal Seizures: Diagnosis, Etiologies, and Management.
Ziobro J, Shellhaas RA
Semin Neurol 2020 Apr;40(2):246-256. Epub 2020 Mar 6 doi: 10.1055/s-0040-1702943. PMID: 32143234

Recent clinical studies

Etiology

Treatment of seizures in the neonate: Guidelines and consensus-based recommendations-Special report from the ILAE Task Force on Neonatal Seizures.
Pressler RM, Abend NS, Auvin S, Boylan G, Brigo F, Cilio MR, De Vries LS, Elia M, Espeche A, Hahn CD, Inder T, Jette N, Kakooza-Mwesige A, Mader S, Mizrahi EM, Moshé SL, Nagarajan L, Noyman I, Nunes ML, Samia P, Shany E, Shellhaas RA, Subota A, Triki CC, Tsuchida T, Vinayan KP, Wilmshurst JM, Yozawitz EG, Hartmann H
Epilepsia 2023 Oct;64(10):2550-2570. Epub 2023 Sep 1 doi: 10.1111/epi.17745. PMID: 37655702
Citrin Deficiency: Clinical and Nutritional Features.
Komatsu M, Tanaka N, Kimura T, Yazaki M
Nutrients 2023 May 12;15(10) doi: 10.3390/nu15102284. PMID: 37242166Free PMC Article
Neonatal Seizures: Diagnosis, Etiologies, and Management.
Ziobro J, Shellhaas RA
Semin Neurol 2020 Apr;40(2):246-256. Epub 2020 Mar 6 doi: 10.1055/s-0040-1702943. PMID: 32143234
Seizure classification, etiology, and management.
Shellhaas RA
Handb Clin Neurol 2019;162:347-361. doi: 10.1016/B978-0-444-64029-1.00017-5. PMID: 31324320
Osteopetrosis.
Stark Z, Savarirayan R
Orphanet J Rare Dis 2009 Feb 20;4:5. doi: 10.1186/1750-1172-4-5. PMID: 19232111Free PMC Article

Diagnosis

Anakinra-Associated Amyloidosis.
Alehashemi S, Dasari S, de Jesus AA, Cowen EW, Lee CR, Goldbach-Mansky R, McPhail ED
JAMA Dermatol 2022 Dec 1;158(12):1454-1457. doi: 10.1001/jamadermatol.2022.2124. PMID: 36223107
Guidelines for diagnosis and management of congenital central hypoventilation syndrome.
Trang H, Samuels M, Ceccherini I, Frerick M, Garcia-Teresa MA, Peters J, Schoeber J, Migdal M, Markstrom A, Ottonello G, Piumelli R, Estevao MH, Senecic-Cala I, Gnidovec-Strazisar B, Pfleger A, Porto-Abal R, Katz-Salamon M
Orphanet J Rare Dis 2020 Sep 21;15(1):252. doi: 10.1186/s13023-020-01460-2. PMID: 32958024Free PMC Article
Neonatal Seizures: Diagnosis, Etiologies, and Management.
Ziobro J, Shellhaas RA
Semin Neurol 2020 Apr;40(2):246-256. Epub 2020 Mar 6 doi: 10.1055/s-0040-1702943. PMID: 32143234
Neonatal hypotonia and neuromuscular conditions.
Mercuri E, Pera MC, Brogna C
Handb Clin Neurol 2019;162:435-448. doi: 10.1016/B978-0-444-64029-1.00021-7. PMID: 31324324
Seizure classification, etiology, and management.
Shellhaas RA
Handb Clin Neurol 2019;162:347-361. doi: 10.1016/B978-0-444-64029-1.00017-5. PMID: 31324320

Therapy

Treatment of seizures in the neonate: Guidelines and consensus-based recommendations-Special report from the ILAE Task Force on Neonatal Seizures.
Pressler RM, Abend NS, Auvin S, Boylan G, Brigo F, Cilio MR, De Vries LS, Elia M, Espeche A, Hahn CD, Inder T, Jette N, Kakooza-Mwesige A, Mader S, Mizrahi EM, Moshé SL, Nagarajan L, Noyman I, Nunes ML, Samia P, Shany E, Shellhaas RA, Subota A, Triki CC, Tsuchida T, Vinayan KP, Wilmshurst JM, Yozawitz EG, Hartmann H
Epilepsia 2023 Oct;64(10):2550-2570. Epub 2023 Sep 1 doi: 10.1111/epi.17745. PMID: 37655702
Anakinra as a potential treatment for COVID-19.
McCarthy MW
Drugs Today (Barc) 2023 Mar;59(3):107-112. doi: 10.1358/dot.2023.59.3.3542446. PMID: 36847621
Anakinra-Associated Amyloidosis.
Alehashemi S, Dasari S, de Jesus AA, Cowen EW, Lee CR, Goldbach-Mansky R, McPhail ED
JAMA Dermatol 2022 Dec 1;158(12):1454-1457. doi: 10.1001/jamadermatol.2022.2124. PMID: 36223107
Neonatal-Onset Urticaria and Fever.
Marsili M, Di Battista C, Chiarelli F, Breda L, Ceccherini I, Gattorno M
J Pediatr 2016 Oct;177:329-329.e1. Epub 2016 Aug 8 doi: 10.1016/j.jpeds.2016.07.004. PMID: 27514240
Current treatment recommendations and considerations for cryopyrin-associated periodic syndrome.
Koné-Paut I, Galeotti C
Expert Rev Clin Immunol 2015;11(10):1083-92. Epub 2015 Aug 27 doi: 10.1586/1744666X.2015.1077702. PMID: 26312542

Prognosis

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z, Møller RS, Bellan C, Simonati A, Lesca G, Helbig KL, Palmer EE, Mei D, Ballardini E, Van Haeringen A, Syrbe S, Leuzzi V, Cioni G, Curry CJ, Costain G, Santucci M, Chong K, Mancini GMS, Clayton-Smith J, Bigoni S, Scheffer IE, Dobyns WB, Vilsen B, Guerrini R; ATP1A2/A3-collaborators
Brain 2021 Jun 22;144(5):1435-1450. doi: 10.1093/brain/awab052. PMID: 33880529
Seizures in the neonate: A review of etiologies and outcomes.
Pisani F, Spagnoli C, Falsaperla R, Nagarajan L, Ramantani G
Seizure 2021 Feb;85:48-56. Epub 2021 Jan 4 doi: 10.1016/j.seizure.2020.12.023. PMID: 33418166
Neonatal Seizures: Diagnosis, Etiologies, and Management.
Ziobro J, Shellhaas RA
Semin Neurol 2020 Apr;40(2):246-256. Epub 2020 Mar 6 doi: 10.1055/s-0040-1702943. PMID: 32143234
Seizure classification, etiology, and management.
Shellhaas RA
Handb Clin Neurol 2019;162:347-361. doi: 10.1016/B978-0-444-64029-1.00017-5. PMID: 31324320
Infantile neurological Degos disease.
Yeo TH, Vassallo G, Judge M, Laycock N, Kelsey A, Crow YJ
Eur J Paediatr Neurol 2011 Mar;15(2):167-70. Epub 2010 Jul 24 doi: 10.1016/j.ejpn.2010.06.003. PMID: 20659809

Clinical prediction guides

Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders.
Berg AT, Thompson CH, Myers LS, Anderson E, Evans L, Kaiser AJE, Paltell K, Nili AN, DeKeyser JL, Abramova TV, Nesbitt G, Egan SM, Vanoye CG, George AL Jr
Brain 2024 Aug 1;147(8):2761-2774. doi: 10.1093/brain/awae125. PMID: 38651838Free PMC Article
The functional impact of 1,570 individual amino acid substitutions in human OTC.
Lo RS, Cromie GA, Tang M, Teng K, Owens K, Sirr A, Kutz JN, Morizono H, Caldovic L, Ah Mew N, Gropman A, Dudley AM
Am J Hum Genet 2023 May 4;110(5):863-879. doi: 10.1016/j.ajhg.2023.03.019. PMID: 37146589Free PMC Article
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z, Møller RS, Bellan C, Simonati A, Lesca G, Helbig KL, Palmer EE, Mei D, Ballardini E, Van Haeringen A, Syrbe S, Leuzzi V, Cioni G, Curry CJ, Costain G, Santucci M, Chong K, Mancini GMS, Clayton-Smith J, Bigoni S, Scheffer IE, Dobyns WB, Vilsen B, Guerrini R; ATP1A2/A3-collaborators
Brain 2021 Jun 22;144(5):1435-1450. doi: 10.1093/brain/awab052. PMID: 33880529
Cyclic pamidronate infusion for neonatal-onset osteogenesis imperfecta.
Lin CH, Chien YH, Peng SF, Tsai WY, Tung YC, Lee CT, Chien CC, Hwu WL, Lee NC
Pediatr Neonatol 2014 Aug;55(4):306-11. Epub 2014 Jan 31 doi: 10.1016/j.pedneo.2013.12.001. PMID: 24486247
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.
Grünert SC, Stucki M, Morscher RJ, Suormala T, Bürer C, Burda P, Christensen E, Ficicioglu C, Herwig J, Kölker S, Möslinger D, Pasquini E, Santer R, Schwab KO, Wilcken B, Fowler B, Yue WW, Baumgartner MR
Orphanet J Rare Dis 2012 May 29;7:31. doi: 10.1186/1750-1172-7-31. PMID: 22642865Free PMC Article

Recent systematic reviews

Genotype and phenotype features and prognostic factors of neonatal-onset pyridoxine-dependent epilepsy: A systematic review.
Fang C, Yang L, Xiao F, Yan K, Zhou W
Epilepsy Res 2024 May;202:107363. Epub 2024 Apr 17 doi: 10.1016/j.eplepsyres.2024.107363. PMID: 38636407
Treatment of seizures in the neonate: Guidelines and consensus-based recommendations-Special report from the ILAE Task Force on Neonatal Seizures.
Pressler RM, Abend NS, Auvin S, Boylan G, Brigo F, Cilio MR, De Vries LS, Elia M, Espeche A, Hahn CD, Inder T, Jette N, Kakooza-Mwesige A, Mader S, Mizrahi EM, Moshé SL, Nagarajan L, Noyman I, Nunes ML, Samia P, Shany E, Shellhaas RA, Subota A, Triki CC, Tsuchida T, Vinayan KP, Wilmshurst JM, Yozawitz EG, Hartmann H
Epilepsia 2023 Oct;64(10):2550-2570. Epub 2023 Sep 1 doi: 10.1111/epi.17745. PMID: 37655702
Sulfonylurea for improving neurological features in neonatal diabetes: A systematic review and meta-analyses.
de Gouveia Buff Passone C, Giani E, Vaivre-Douret L, Kariyawasam D, Berdugo M, Garcin L, Beltrand J, Bernardo WM, Polak M
Pediatr Diabetes 2022 Sep;23(6):675-692. Epub 2022 Jun 24 doi: 10.1111/pedi.13376. PMID: 35657808
Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.
Spagnoli C, Fusco C, Percesepe A, Leuzzi V, Pisani F
Int J Mol Sci 2021 Apr 18;22(8) doi: 10.3390/ijms22084202. PMID: 33919646Free PMC Article
The impact of ammonia levels and dialysis on outcome in 202 patients with neonatal onset urea cycle disorders.
Hediger N, Landolt MA, Diez-Fernandez C, Huemer M, Häberle J
J Inherit Metab Dis 2018 Jul;41(4):689-698. Epub 2018 Mar 8 doi: 10.1007/s10545-018-0157-4. PMID: 29520739

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