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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

International Consensus Guideline on Small for Gestational Age: Etiology and Management From Infancy to Early Adulthood.
Hokken-Koelega ACS, van der Steen M, Boguszewski MCS, Cianfarani S, Dahlgren J, Horikawa R, Mericq V, Rapaport R, Alherbish A, Braslavsky D, Charmandari E, Chernausek SD, Cutfield WS, Dauber A, Deeb A, Goedegebuure WJ, Hofman PL, Isganatis E, Jorge AA, Kanaka-Gantenbein C, Kashimada K, Khadilkar V, Luo XP, Mathai S, Nakano Y, Yau M
Endocr Rev 2023 May 8;44(3):539-565. doi: 10.1210/endrev/bnad002. PMID: 36635911Free PMC Article
Craniosynostosis - Recognition, clinical characteristics, and treatment.
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
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
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

Screen Time at Age 1 Year and Communication and Problem-Solving Developmental Delay at 2 and 4 Years.
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
The Beneficial Effects of Massage on Motor Development and Sensory Processing in Young Children with Developmental Delay: A Randomized Control Trial Study.
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
Comparative safety of antiepileptic drugs for neurological development in children exposed during pregnancy and breast feeding: a systematic review and network meta-analysis.
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
Developmental Delay: When and How to Screen.
Vitrikas K, Savard D, Bucaj M
Am Fam Physician 2017 Jul 1;96(1):36-43. PMID: 28671370
Plagiocephaly and Developmental Delay: A Systematic Review.
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

Deciphering Intellectual Disability.
Gupta N
Indian J Pediatr 2023 Feb;90(2):160-167. Epub 2022 Nov 28 doi: 10.1007/s12098-022-04345-3. PMID: 36441387
Developmental delay: identification and management at primary care level.
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
A clinical approach to developmental delay and intellectual disability.
Vasudevan P, Suri M
Clin Med (Lond) 2017 Dec;17(6):558-561. doi: 10.7861/clinmedicine.17-6-558. PMID: 29196358Free PMC Article
Seizure patterns in childhood.
Wolf SM, McGoldrick PE
Pediatr Ann 2015 Feb;44(2):e24-9. doi: 10.3928/00904481-20150203-08. PMID: 25658215
A copy number variation morbidity map of developmental delay.
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

Antenatal corticosteroids for accelerating fetal lung maturation for women at risk of preterm birth.
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
Marijuana: the effects on pregnancy, the fetus, and the newborn.
Martin GI
J Perinatol 2020 Oct;40(10):1470-1476. Epub 2020 Jun 7 doi: 10.1038/s41372-020-0708-z. PMID: 32507859
Treadmill interventions in children under six years of age at risk of neuromotor delay.
Valentín-Gudiol M, Mattern-Baxter K, Girabent-Farrés M, Bagur-Calafat C, Hadders-Algra M, Angulo-Barroso RM
Cochrane Database Syst Rev 2017 Jul 29;7(7):CD009242. doi: 10.1002/14651858.CD009242.pub3. PMID: 28755534Free PMC Article
Comparative safety of antiepileptic drugs for neurological development in children exposed during pregnancy and breast feeding: a systematic review and network meta-analysis.
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
Interventions to improve gross motor performance in children with neurodevelopmental disorders: a meta-analysis.
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

High-Risk Infant Follow-Up After NICU Discharge: Current Care Models and Future Considerations.
Litt JS, Campbell DE
Clin Perinatol 2023 Mar;50(1):225-238. doi: 10.1016/j.clp.2022.11.004. PMID: 36868707
How to use the Bayley Scales of Infant and Toddler Development.
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
Validation of the modified checklist for Autism in toddlers, revised with follow-up (M-CHAT-R/F).
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
Cobalamin status in children.
Bjørke-Monsen AL, Ueland PM
J Inherit Metab Dis 2011 Feb;34(1):111-9. Epub 2010 May 27 doi: 10.1007/s10545-010-9119-1. PMID: 20508991
Increased nuchal translucency with normal karyotype.
Souka AP, Von Kaisenberg CS, Hyett JA, Sonek JD, Nicolaides KH
Am J Obstet Gynecol 2005 Apr;192(4):1005-21. doi: 10.1016/j.ajog.2004.12.093. PMID: 15846173

Clinical prediction guides

Clinical and genetic characterization of CACNA1A-related disease.
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
How to use the Bayley Scales of Infant and Toddler Development.
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
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.
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
Newborn screening for Krabbe disease in New York State: the first eight years' experience.
Orsini JJ, Kay DM, Saavedra-Matiz CA, Wenger DA, Duffner PK, Erbe RW, Biski C, Martin M, Krein LM, Nichols M, Kurtzberg J, Escolar ML, Adams DJ, Arnold GL, Iglesias A, Galvin-Parton P, Kronn DF, Kwon JM, Levy PA, Pellegrino JE, Shur N, Wasserstein MP, Caggana M; New York State Krabbe Disease Consortium
Genet Med 2016 Mar;18(3):239-48. Epub 2016 Jan 21 doi: 10.1038/gim.2015.211. PMID: 26795590
Cerebral palsy--don't delay.
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

Calcium channelopathies and intellectual disability: a systematic review.
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
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM
J Inherit Metab Dis 2021 Jan;44(1):178-192. Epub 2020 Dec 1 doi: 10.1002/jimd.12332. PMID: 33200442
Congenital myasthenic syndromes.
Finsterer J
Orphanet J Rare Dis 2019 Feb 26;14(1):57. doi: 10.1186/s13023-019-1025-5. PMID: 30808424Free PMC Article
Interventions to improve gross motor performance in children with neurodevelopmental disorders: a meta-analysis.
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
Comprehensive evaluation of the child with intellectual disability or global developmental delays.
Moeschler JB, Shevell M; Committee on Genetics
Pediatrics 2014 Sep;134(3):e903-18. doi: 10.1542/peds.2014-1839. PMID: 25157020Free PMC Article

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