U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Mild developmental delay

MedGen UID:
338529
•Concept ID:
C1848735
•
Finding
Synonym: Developmental delay, mild

Professional guidelines

PubMed

Intrahepatic portosystemic shunts, from prenatal diagnosis to postnatal outcome: a retrospective study.
Steg Saban O, Weissbach T, Achiron R, Pekar Zlotin M, Haberman Y, Anis Heusler A, Kassif E, Weiss B
Arch Dis Child 2023 Nov;108(11):910-915. Epub 2023 Jul 20 doi: 10.1136/archdischild-2023-325424. PMID: 37474281
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Deng R, Medico-Salsench E, Nikoncuk A, Ramakrishnan R, Lanko K, Kühn NA, van der Linde HC, Lor-Zade S, Albuainain F, Shi Y, Yousefi S, Capo I, van den Herik EM, van Slegtenhorst M, van Minkelen R, Geeven G, Mulder MT, Ruijter GJG, Lütjohann D, Jacobs EH, Houlden H, Pagnamenta AT, Metcalfe K, Jackson A, Banka S, De Simone L, Schwaede A, Kuntz N, Palculict TB, Abbas S, Umair M, AlMuhaizea M, Colak D, AlQudairy H, Alsagob M, Pereira C, Trunzo R, Karageorgou V, Bertoli-Avella AM, Bauer P, Bouman A, Hoefsloot LH, van Ham TJ, Issa M, Zaki MS, Gleeson JG, Willemsen R, Kaya N, Arold ST, Maroofian R, Sanderson LE, Barakat TS
Acta Neuropathol 2023 Aug;146(2):353-368. Epub 2023 Apr 29 doi: 10.1007/s00401-023-02579-9. PMID: 37119330Free PMC Article
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Whalen S, Heide S, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Schrier Vergano SA, Kenney A, Hove H, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Baris Feldman H, Campeau PM, Muenke M, Wade PA, Lachlan K
Genet Med 2020 Feb;22(2):389-397. Epub 2019 Aug 7 doi: 10.1038/s41436-019-0612-0. PMID: 31388190Free PMC Article

Recent clinical studies

Etiology

Clinical and molecular characterization of patients with YWHAG-related epilepsy.
Cetica V, Pisano T, Lesca G, Marafi D, Licchetta L, Riccardi F, Mei D, Chung HB, Bayat A, Balasubramanian M, Lowenstein DH, Endzinienė M, Alotaibi M, Villeneuve N, Jacobs J, Isidor B, Solazzi R, den Hollander NS, Marjanovic D, Rougeot-Jung C, Jung J, Lesieur-Sebellin M, Accogli A, Salpietro V, Saadi NW, Panagiotakaki E, Foiadelli T, Redon S, Tsai MH, Bisulli F, Hammer TB, Lupski JR, Parrini E, Guerrini R; YWHAG Study Group
Epilepsia 2024 May;65(5):1439-1450. Epub 2024 Mar 16 doi: 10.1111/epi.17939. PMID: 38491959
Possible Catch-Up Developmental Trajectories for Children with Mild Developmental Delay Caused by NAA15 Pathogenic Variants.
Tian Y, Xie H, Yang S, Shangguan S, Wang J, Jin C, Zhang Y, Cui X, Lyu Y, Chen X, Wang L
Genes (Basel) 2022 Mar 18;13(3) doi: 10.3390/genes13030536. PMID: 35328089Free PMC Article
Lessons learned from 40 novel PIGA patients and a review of the literature.
Bayat A, Knaus A, Pendziwiat M, Afenjar A, Barakat TS, Bosch F, Callewaert B, Calvas P, Ceulemans B, Chassaing N, Depienne C, Endziniene M, Ferreira CR, Moura de Souza CF, Freihuber C, Ganesan S, Gataullina S, Guerrini R, Guerrot AM, Hansen L, Jezela-Stanek A, Karsenty C, Kievit A, Kooy FR, Korff CM, Kragh Hansen J, Larsen M, Layet V, Lesca G, McBride KL, Meuwissen M, Mignot C, Montomoli M, Moore H, Naudion S, Nava C, Nougues MC, Parrini E, Pastore M, Schelhaas JH, Skinner S, Szczałuba K, Thomas A, Thomassen M, Tranebjaerg L, van Slegtenhorst M, Wolfe LA, Lal D, Gardella E, Bomme Ousager L, Brünger T, Helbig I, Krawitz P, Møller RS
Epilepsia 2020 Jun;61(6):1142-1155. Epub 2020 May 26 doi: 10.1111/epi.16545. PMID: 32452540
Leopard syndrome.
Sarkozy A, Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. PMID: 18505544Free PMC Article
Craniofrontonasal dysplasia.
Kapusta L, Brunner HG, Hamel BC
Eur J Pediatr 1992 Nov;151(11):837-41. doi: 10.1007/BF01957936. PMID: 1468459

Diagnosis

A new neurodevelopmental disorder linked to heterozygous variants in UNC79.
Bayat A, Liu Z, Luo S, Fenger CD, Højte AF, Isidor B, Cogne B, Larson A, Zanus C, Faletra F, Keren B, Musante L, Gourfinkel-An I, Perrine C, Demily C, Lesca G, Liao W, Ren D
Genet Med 2023 Sep;25(9):100894. Epub 2023 May 11 doi: 10.1016/j.gim.2023.100894. PMID: 37183800
Noonan syndrome: improving recognition and diagnosis.
Zenker M, Edouard T, Blair JC, Cappa M
Arch Dis Child 2022 Dec;107(12):1073-1078. Epub 2022 Mar 4 doi: 10.1136/archdischild-2021-322858. PMID: 35246453Free PMC Article
KBG syndrome presenting with brachydactyly type E.
Libianto R, Wu KH, Devery S, Eisman JA, Center JR
Bone 2019 Jun;123:18-22. Epub 2019 Mar 12 doi: 10.1016/j.bone.2019.03.012. PMID: 30877071
Leopard syndrome.
Sarkozy A, Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. PMID: 18505544Free PMC Article
Craniofrontonasal dysplasia.
Kapusta L, Brunner HG, Hamel BC
Eur J Pediatr 1992 Nov;151(11):837-41. doi: 10.1007/BF01957936. PMID: 1468459

Therapy

Growth in girls with Turner syndrome.
Isojima T, Yokoya S
Front Endocrinol (Lausanne) 2022;13:1068128. Epub 2023 Jan 12 doi: 10.3389/fendo.2022.1068128. PMID: 36714599Free PMC Article
A Study of the Possibility of Detecting Pediatric Mild Developmental Delay Through a Serious Game: A Randomized Cluster Trial in Cambodia.
Kim HH, Kwon HW, Kao S, Sohn HS, Kim J, Choi Y, Kim D, Kang M, Park YR
Stud Health Technol Inform 2020 Jun 16;270:736-740. doi: 10.3233/SHTI200258. PMID: 32570480
Insulin for the treatment of women with gestational diabetes.
Brown J, Grzeskowiak L, Williamson K, Downie MR, Crowther CA
Cochrane Database Syst Rev 2017 Nov 5;11(11):CD012037. doi: 10.1002/14651858.CD012037.pub2. PMID: 29103210Free PMC Article
Early prediction of typical outcome and mild developmental delay for prioritisation of service delivery for very preterm and very low birthweight infants: a study protocol.
Caesar R, Boyd RN, Colditz P, Cioni G, Ware RS, Salthouse K, Doherty J, Jackson M, Matthews L, Hurley T, Morosini A, Thomas C, Camadoo L, Baer E; PREMTiME Study Group
BMJ Open 2016 Jul 4;6(7):e010726. doi: 10.1136/bmjopen-2015-010726. PMID: 27377633Free PMC Article
Pollutants in breast milk.
Rogan WJ
Arch Pediatr Adolesc Med 1996 Sep;150(9):981-90. doi: 10.1001/archpedi.1996.02170340095018. PMID: 8790132

Prognosis

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.
Cuinat S, Nizon M, Isidor B, Stegmann A, van Jaarsveld RH, van Gassen KL, van der Smagt JJ, Volker-Touw CML, Holwerda SJB, Terhal PA, Schuhmann S, Vasileiou G, Khalifa M, Nugud AA, Yasaei H, Ousager LB, Brasch-Andersen C, Deb W, Besnard T, Simon MEH, Amsterdam KH, Verbeek NE, Matalon D, Dykzeul N, White S, Spiteri E, Devriendt K, Boogaerts A, Willemsen M, Brunner HG, Sinnema M, De Vries BBA, Gerkes EH, Pfundt R, Izumi K, Krantz ID, Xu ZL, Murrell JR, Valenzuela I, Cusco I, Rovira-Moreno E, Yang Y, Bizaoui V, Patat O, Faivre L, Tran-Mau-Them F, Vitobello A, Denommé-Pichon AS, Philippe C, Bezieau S, Cogné B
Genet Med 2022 Aug;24(8):1774-1780. Epub 2022 May 14 doi: 10.1016/j.gim.2022.04.011. PMID: 35567594
Lessons learned from 40 novel PIGA patients and a review of the literature.
Bayat A, Knaus A, Pendziwiat M, Afenjar A, Barakat TS, Bosch F, Callewaert B, Calvas P, Ceulemans B, Chassaing N, Depienne C, Endziniene M, Ferreira CR, Moura de Souza CF, Freihuber C, Ganesan S, Gataullina S, Guerrini R, Guerrot AM, Hansen L, Jezela-Stanek A, Karsenty C, Kievit A, Kooy FR, Korff CM, Kragh Hansen J, Larsen M, Layet V, Lesca G, McBride KL, Meuwissen M, Mignot C, Montomoli M, Moore H, Naudion S, Nava C, Nougues MC, Parrini E, Pastore M, Schelhaas JH, Skinner S, Szczałuba K, Thomas A, Thomassen M, Tranebjaerg L, van Slegtenhorst M, Wolfe LA, Lal D, Gardella E, Bomme Ousager L, Brünger T, Helbig I, Krawitz P, Møller RS
Epilepsia 2020 Jun;61(6):1142-1155. Epub 2020 May 26 doi: 10.1111/epi.16545. PMID: 32452540
Holoprosencephaly: a survey of the entity, with embryology and fetal imaging.
Winter TC, Kennedy AM, Woodward PJ
Radiographics 2015 Jan-Feb;35(1):275-90. doi: 10.1148/rg.351140040. PMID: 25590404
Leopard syndrome.
Sarkozy A, Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. PMID: 18505544Free PMC Article
Craniofrontonasal dysplasia.
Kapusta L, Brunner HG, Hamel BC
Eur J Pediatr 1992 Nov;151(11):837-41. doi: 10.1007/BF01957936. PMID: 1468459

Clinical prediction guides

Growth in girls with Turner syndrome.
Isojima T, Yokoya S
Front Endocrinol (Lausanne) 2022;13:1068128. Epub 2023 Jan 12 doi: 10.3389/fendo.2022.1068128. PMID: 36714599Free PMC Article
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.
Cuinat S, Nizon M, Isidor B, Stegmann A, van Jaarsveld RH, van Gassen KL, van der Smagt JJ, Volker-Touw CML, Holwerda SJB, Terhal PA, Schuhmann S, Vasileiou G, Khalifa M, Nugud AA, Yasaei H, Ousager LB, Brasch-Andersen C, Deb W, Besnard T, Simon MEH, Amsterdam KH, Verbeek NE, Matalon D, Dykzeul N, White S, Spiteri E, Devriendt K, Boogaerts A, Willemsen M, Brunner HG, Sinnema M, De Vries BBA, Gerkes EH, Pfundt R, Izumi K, Krantz ID, Xu ZL, Murrell JR, Valenzuela I, Cusco I, Rovira-Moreno E, Yang Y, Bizaoui V, Patat O, Faivre L, Tran-Mau-Them F, Vitobello A, Denommé-Pichon AS, Philippe C, Bezieau S, Cogné B
Genet Med 2022 Aug;24(8):1774-1780. Epub 2022 May 14 doi: 10.1016/j.gim.2022.04.011. PMID: 35567594
Possible Catch-Up Developmental Trajectories for Children with Mild Developmental Delay Caused by NAA15 Pathogenic Variants.
Tian Y, Xie H, Yang S, Shangguan S, Wang J, Jin C, Zhang Y, Cui X, Lyu Y, Chen X, Wang L
Genes (Basel) 2022 Mar 18;13(3) doi: 10.3390/genes13030536. PMID: 35328089Free PMC Article
Holoprosencephaly: a survey of the entity, with embryology and fetal imaging.
Winter TC, Kennedy AM, Woodward PJ
Radiographics 2015 Jan-Feb;35(1):275-90. doi: 10.1148/rg.351140040. PMID: 25590404
Craniofrontonasal dysplasia.
Kapusta L, Brunner HG, Hamel BC
Eur J Pediatr 1992 Nov;151(11):837-41. doi: 10.1007/BF01957936. PMID: 1468459

Recent systematic reviews

Insulin for the treatment of women with gestational diabetes.
Brown J, Grzeskowiak L, Williamson K, Downie MR, Crowther CA
Cochrane Database Syst Rev 2017 Nov 5;11(11):CD012037. doi: 10.1002/14651858.CD012037.pub2. PMID: 29103210Free PMC Article
Predictors of seizure outcomes in children with tuberous sclerosis complex and intractable epilepsy undergoing resective epilepsy surgery: an individual participant data meta-analysis.
Fallah A, Guyatt GH, Snead OC 3rd, Ebrahim S, Ibrahim GM, Mansouri A, Reddy D, Walter SD, Kulkarni AV, Bhandari M, Banfield L, Bhatnagar N, Liang S, Teutonico F, Liao J, Rutka JT
PLoS One 2013;8(2):e53565. Epub 2013 Feb 6 doi: 10.1371/journal.pone.0053565. PMID: 23405072Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...