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Developmental delay

MedGen UID:
98410
Concept ID:
C0424605
Mental or Behavioral Dysfunction
Synonyms: Delayed development; Developmental delays
SNOMED CT: Developmental delay (248290002)

Definition

Failure to meet, or late achievement of developmental milestones. [from NCI]

Professional guidelines

PubMed

Indelicato E, Boesch S
Handb Exp Pharmacol 2023;279:227-248. doi: 10.1007/164_2022_625. PMID: 36592223
Kajdic N, Spazzapan P, Velnar T
Bosn J Basic Med Sci 2018 May 20;18(2):110-116. doi: 10.17305/bjbms.2017.2083. PMID: 28623672Free PMC Article
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH
Am J Hum Genet 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. PMID: 20466091Free PMC Article

Recent clinical studies

Etiology

Takahashi I, Obara T, Ishikuro M, Murakami K, Ueno F, Noda A, Onuma T, Shinoda G, Nishimura T, Tsuchiya KJ, Kuriyama S
JAMA Pediatr 2023 Oct 1;177(10):1039-1046. doi: 10.1001/jamapediatrics.2023.3057. PMID: 37603356Free PMC Article
Lu WP, Tsai WH, Lin LY, Hong RB, Hwang YS
Dev Neurorehabil 2019 Oct;22(7):487-495. Epub 2018 Oct 30 doi: 10.1080/17518423.2018.1537317. PMID: 30376388
Veroniki AA, Rios P, Cogo E, Straus SE, Finkelstein Y, Kealey R, Reynen E, Soobiah C, Thavorn K, Hutton B, Hemmelgarn BR, Yazdi F, D'Souza J, MacDonald H, Tricco AC
BMJ Open 2017 Jul 20;7(7):e017248. doi: 10.1136/bmjopen-2017-017248. PMID: 28729328Free PMC Article
Vitrikas K, Savard D, Bucaj M
Am Fam Physician 2017 Jul 1;96(1):36-43. PMID: 28671370
Martiniuk AL, Vujovich-Dunn C, Park M, Yu W, Lucas BR
J Dev Behav Pediatr 2017 Jan;38(1):67-78. doi: 10.1097/DBP.0000000000000376. PMID: 28009719

Diagnosis

Gupta N
Indian J Pediatr 2023 Feb;90(2):160-167. Epub 2022 Nov 28 doi: 10.1007/s12098-022-04345-3. PMID: 36441387
Choo YY, Agarwal P, How CH, Yeleswarapu SP
Singapore Med J 2019 Mar;60(3):119-123. doi: 10.11622/smedj.2019025. PMID: 30997518Free PMC Article
Lu WP, Tsai WH, Lin LY, Hong RB, Hwang YS
Dev Neurorehabil 2019 Oct;22(7):487-495. Epub 2018 Oct 30 doi: 10.1080/17518423.2018.1537317. PMID: 30376388
Vasudevan P, Suri M
Clin Med (Lond) 2017 Dec;17(6):558-561. doi: 10.7861/clinmedicine.17-6-558. PMID: 29196358Free PMC Article
Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, Abdel-Hamid H, Bader P, McCracken E, Niyazov D, Leppig K, Thiese H, Hummel M, Alexander N, Gorski J, Kussmann J, Shashi V, Johnson K, Rehder C, Ballif BC, Shaffer LG, Eichler EE
Nat Genet 2011 Aug 14;43(9):838-46. doi: 10.1038/ng.909. PMID: 21841781Free PMC Article

Therapy

Chen X, Dong T, Hu Y, De Pace R, Mattera R, Eberhardt K, Ziegler M, Pirovolakis T, Sahin M, Bonifacino JS, Ebrahimi-Fakhari D, Gray SJ
J Clin Invest 2023 May 15;133(10) doi: 10.1172/JCI164575. PMID: 36951961Free PMC Article
McGoldrick E, Stewart F, Parker R, Dalziel SR
Cochrane Database Syst Rev 2020 Dec 25;12(12):CD004454. doi: 10.1002/14651858.CD004454.pub4. PMID: 33368142Free PMC Article
Martin GI
J Perinatol 2020 Oct;40(10):1470-1476. Epub 2020 Jun 7 doi: 10.1038/s41372-020-0708-z. PMID: 32507859
Veroniki AA, Rios P, Cogo E, Straus SE, Finkelstein Y, Kealey R, Reynen E, Soobiah C, Thavorn K, Hutton B, Hemmelgarn BR, Yazdi F, D'Souza J, MacDonald H, Tricco AC
BMJ Open 2017 Jul 20;7(7):e017248. doi: 10.1136/bmjopen-2017-017248. PMID: 28729328Free PMC Article
Lucas BR, Elliott EJ, Coggan S, Pinto RZ, Jirikowic T, McCoy SW, Latimer J
BMC Pediatr 2016 Nov 29;16(1):193. doi: 10.1186/s12887-016-0731-6. PMID: 27899082Free PMC Article

Prognosis

Litt JS, Campbell DE
Clin Perinatol 2023 Mar;50(1):225-238. doi: 10.1016/j.clp.2022.11.004. PMID: 36868707
Del Rosario C, Slevin M, Molloy EJ, Quigley J, Nixon E
Arch Dis Child Educ Pract Ed 2021 Apr;106(2):108-112. Epub 2020 Aug 28 doi: 10.1136/archdischild-2020-319063. PMID: 32859738
Lueder GT, Galli M
J Pediatr Ophthalmol Strabismus 2018 Jul 1;55(4):225-228. Epub 2018 May 1 doi: 10.3928/01913913-20180213-05. PMID: 29709041
Robins DL, Casagrande K, Barton M, Chen CM, Dumont-Mathieu T, Fein D
Pediatrics 2014 Jan;133(1):37-45. Epub 2013 Dec 23 doi: 10.1542/peds.2013-1813. PMID: 24366990Free PMC Article
Mackrides PS, Ryherd SJ
Am Fam Physician 2011 Sep 1;84(5):544-9. PMID: 21888305

Clinical prediction guides

Lipman AR, Fan X, Shen Y, Chung WK
Clin Genet 2022 Oct;102(4):288-295. Epub 2022 Jun 26 doi: 10.1111/cge.14180. PMID: 35722745Free PMC Article
Del Rosario C, Slevin M, Molloy EJ, Quigley J, Nixon E
Arch Dis Child Educ Pract Ed 2021 Apr;106(2):108-112. Epub 2020 Aug 28 doi: 10.1136/archdischild-2020-319063. PMID: 32859738
Hebebrand M, Hüffmeier U, Trollmann R, Hehr U, Uebe S, Ekici AB, Kraus C, Krumbiegel M, Reis A, Thiel CT, Popp B
Orphanet J Rare Dis 2019 Feb 11;14(1):38. doi: 10.1186/s13023-019-1020-x. PMID: 30744660Free PMC Article
Lu WP, Tsai WH, Lin LY, Hong RB, Hwang YS
Dev Neurorehabil 2019 Oct;22(7):487-495. Epub 2018 Oct 30 doi: 10.1080/17518423.2018.1537317. PMID: 30376388
McIntyre S, Morgan C, Walker K, Novak I
Dev Disabil Res Rev 2011;17(2):114-29. doi: 10.1002/ddrr.1106. PMID: 23362031

Recent systematic reviews

Kessi M, Chen B, Peng J, Yan F, Yang L, Yin F
Orphanet J Rare Dis 2021 May 13;16(1):219. doi: 10.1186/s13023-021-01850-0. PMID: 33985586Free PMC Article
Finsterer J
Orphanet J Rare Dis 2019 Feb 26;14(1):57. doi: 10.1186/s13023-019-1025-5. PMID: 30808424Free PMC Article
Oh DL, Jerman P, Silvério Marques S, Koita K, Purewal Boparai SK, Burke Harris N, Bucci M
BMC Pediatr 2018 Feb 23;18(1):83. doi: 10.1186/s12887-018-1037-7. PMID: 29475430Free PMC Article
Veroniki AA, Rios P, Cogo E, Straus SE, Finkelstein Y, Kealey R, Reynen E, Soobiah C, Thavorn K, Hutton B, Hemmelgarn BR, Yazdi F, D'Souza J, MacDonald H, Tricco AC
BMJ Open 2017 Jul 20;7(7):e017248. doi: 10.1136/bmjopen-2017-017248. PMID: 28729328Free PMC Article
Lucas BR, Elliott EJ, Coggan S, Pinto RZ, Jirikowic T, McCoy SW, Latimer J
BMC Pediatr 2016 Nov 29;16(1):193. doi: 10.1186/s12887-016-0731-6. PMID: 27899082Free PMC Article

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