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Developmental delay

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

Definition

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

Professional guidelines

PubMed

Clinical Practice Guideline: Tympanostomy Tubes in Children (Update).
Rosenfeld RM, Tunkel DE, Schwartz SR, Anne S, Bishop CE, Chelius DC, Hackell J, Hunter LL, Keppel KL, Kim AH, Kim TW, Levine JM, Maksimoski MT, Moore DJ, Preciado DA, Raol NP, Vaughan WK, Walker EA, Monjur TM
Otolaryngol Head Neck Surg 2022 Feb;166(1_suppl):S1-S55. doi: 10.1177/01945998211065662. PMID: 35138954
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

Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical Report.
Rodan LH, Stoler J, Chen E, Geleske T; Council on Genetics
Pediatrics 2025 Jul 1;156(1) doi: 10.1542/peds.2025-072219. PMID: 40545261
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K, Turova L, Wolfsberger W, Kalanquin K, Williston K, Kurutsa O, Makovetska A, Hasynets Y, Mirutenko V, Vakerych M, Oleksyk TK
J Neurodev Disord 2024 Mar 27;16(1):13. doi: 10.1186/s11689-024-09528-x. PMID: 38539105Free PMC Article
Clinical phenotypes of individuals with Chung-Jansen syndrome across age groups.
Sudnawa KK, Calamia S, Geltzeiler A, Chung WK
Am J Med Genet A 2024 Mar;194(3):e63471. Epub 2023 Nov 13 doi: 10.1002/ajmg.a.63471. PMID: 37961033Free PMC Article
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.
Duncan AR, Vitobello A, Collins SC, Vancollie VE, Lelliott CJ, Rodan L, Shi J, Seman AR, Agolini E, Novelli A, Prontera P, Guillen Sacoto MJ, Santiago-Sim T, Trimouille A, Goizet C, Nizon M, Bruel AL, Philippe C, Grant PE, Wojcik MH, Stoler J, Genetti CA, van Dooren MF, Maas SM, Alders M, Faivre L, Sorlin A, Yoon G, Yalcin B, Agrawal PB
Am J Hum Genet 2020 Dec 3;107(6):1170-1177. Epub 2020 Nov 23 doi: 10.1016/j.ajhg.2020.11.001. PMID: 33232677Free PMC Article
Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.
Lin L, Zhang Y, Pan H, Wang J, Qi Y, Ma Y
Orphanet J Rare Dis 2020 Nov 11;15(1):317. doi: 10.1186/s13023-020-01599-y. PMID: 33176815Free PMC Article

Diagnosis

Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical Report.
Rodan LH, Stoler J, Chen E, Geleske T; Council on Genetics
Pediatrics 2025 Jul 1;156(1) doi: 10.1542/peds.2025-072219. PMID: 40545261
Allan-Herndon-Dudley Syndrome.
Chakraborty S, Das D
Indian J Pediatr 2025 Jun;92(6):635-636. Epub 2025 Mar 25 doi: 10.1007/s12098-025-05507-9. PMID: 40131620
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

Therapy

Further delineation of ERF-related Chitayat syndrome.
Zhu F, Zhang Y, Wang K, Zou CC
Eur J Med Genet 2025 Oct;77:105038. Epub 2025 Aug 20 doi: 10.1016/j.ejmg.2025.105038. PMID: 40840652
Immediate Skin-to-Skin Contact in Very Preterm Neonates and Early Childhood Neurodevelopment: A Randomized Clinical Trial.
Kristoffersen L, Støen R, Bergseng H, Flottorp ST, Magerøy G, Grunewaldt KH, Aker K
JAMA Netw Open 2025 Apr 1;8(4):e255467. doi: 10.1001/jamanetworkopen.2025.5467. PMID: 40238094Free PMC Article
Effect of Early Intervention on Developmental Domains and Parent-Child Interaction Among Children With Developmental Delay: A Randomized Controlled Study.
Gündoğmuş E, Bumin G, Yalçın SS
Am J Occup Ther 2024 Nov 1;78(6) doi: 10.5014/ajot.2024.050706. PMID: 39418650
Spoken language outcomes in limited language preschoolers with autism and global developmental delay: RCT of early intervention approaches.
Kasari C, Shire S, Shih W, Landa R, Levato L, Smith T
Autism Res 2023 Jun;16(6):1236-1246. Epub 2023 Apr 18 doi: 10.1002/aur.2932. PMID: 37070270Free PMC Article
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

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
Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.
Lin L, Zhang Y, Pan H, Wang J, Qi Y, Ma Y
Orphanet J Rare Dis 2020 Nov 11;15(1):317. doi: 10.1186/s13023-020-01599-y. PMID: 33176815Free PMC Article
The otolaryngologic manifestations of Sotos syndrome.
Gaudreau P, Zizak V, Gallagher TQ
Int J Pediatr Otorhinolaryngol 2013 Nov;77(11):1861-3. Epub 2013 Sep 6 doi: 10.1016/j.ijporl.2013.08.029. PMID: 24060089
Costello syndrome: an overview.
Hennekam RC
Am J Med Genet C Semin Med Genet 2003 Feb 15;117C(1):42-8. doi: 10.1002/ajmg.c.10019. PMID: 12561057

Clinical prediction guides

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K, Turova L, Wolfsberger W, Kalanquin K, Williston K, Kurutsa O, Makovetska A, Hasynets Y, Mirutenko V, Vakerych M, Oleksyk TK
J Neurodev Disord 2024 Mar 27;16(1):13. doi: 10.1186/s11689-024-09528-x. PMID: 38539105Free PMC Article
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
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.
Ziats MN, Ahmad A, Bernat JA, Fisher R, Glassford M, Hannibal MC, Jacher JE, Weiser N, Keegan CE, Lee KN, Marzulla TB, O'Connor BC, Quinonez SC, Seemann L, Turner L, Bielas S, Harris NL, Ogle JD, Innis JW, Martin DM
Pediatr Res 2020 Mar;87(4):735-739. Epub 2019 Oct 16 doi: 10.1038/s41390-019-0611-5. PMID: 31618753Free PMC Article
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

Recent systematic reviews

A systematic review and pooled analysis of penetrance estimates of copy-number variants associated with neurodevelopment.
Goh S, Thiyagarajan L, Dudding-Byth T, Pinese M, Kirk EP
Genet Med 2025 Jan;27(1):101227. Epub 2024 Jul 30 doi: 10.1016/j.gim.2024.101227. PMID: 39092588
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
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
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
Individualised prediction model of seizure recurrence and long-term outcomes after withdrawal of antiepileptic drugs in seizure-free patients: a systematic review and individual participant data meta-analysis.
Lamberink HJ, Otte WM, Geerts AT, Pavlovic M, Ramos-Lizana J, Marson AG, Overweg J, Sauma L, Specchio LM, Tennison M, Cardoso TMO, Shinnar S, Schmidt D, Geleijns K, Braun KPJ
Lancet Neurol 2017 Jul;16(7):523-531. Epub 2017 May 5 doi: 10.1016/S1474-4422(17)30114-X. PMID: 28483337

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