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Severe receptive language delay

MedGen UID:
504296
Concept ID:
C3532947
Mental or Behavioral Dysfunction
SNOMED CT: Severe receptive language delay (89391000119105)
 
HPO: HP:0011352

Definition

A severe delay in the acquisition of the ability to understand the speech of others. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSevere receptive language delay

Conditions with this feature

Intellectual disability, autosomal dominant 42
MedGen UID:
934741
Concept ID:
C4310774
Mental or Behavioral Dysfunction
GNB1 encephalopathy (GNB1-E) is characterized by moderate-to-severe developmental delay / intellectual disability, structural brain abnormalities, and often infantile hypotonia and seizures. Other less common findings include dystonia, reduced vision, behavior issues, growth delay, gastrointestinal (GI) problems, genitourinary (GU) abnormalities in males, and cutaneous mastocytosis.

Professional guidelines

PubMed

St John M, Amor DJ, Morgan AT
Am J Med Genet A 2022 Dec;188(12):3389-3400. Epub 2022 Jul 27 doi: 10.1002/ajmg.a.62899. PMID: 35892268
Hassan M, Patel D, LaRusso K, Koclas L, Smith-Morin Ot M, Shapiro AJ, Sant'Anna A, Altit G, Beauseigle S, Puligandla PS
J Pediatr Surg 2022 May;57(5):846-850. Epub 2022 Jan 13 doi: 10.1016/j.jpedsurg.2021.12.048. PMID: 35090718
Nelson HD, Bougatsos C, Nygren P; 2001 US Preventive Services Task Force
Pediatrics 2008 Jul;122(1):e266-76. doi: 10.1542/peds.2007-1422. PMID: 18595973

Recent clinical studies

Etiology

Ahufinger N, Ferinu L, Sanz-Torrent M, Andreu L, Evans JL
Int J Lang Commun Disord 2022 Jan;57(1):42-62. Epub 2021 Oct 6 doi: 10.1111/1460-6984.12673. PMID: 34613648Free PMC Article
Miniscalco C, Carlsson E
Clin Linguist Phon 2022 May 4;36(4-5):398-416. Epub 2021 Feb 8 doi: 10.1080/02699206.2021.1874536. PMID: 33554685
Braden RO, Boyce JO, Stutterd CA, Pope K, Goel H, Leventer RJ, Scheffer IE, Morgan AT
Neurology 2021 Apr 6;96(14):e1898-e1912. Epub 2021 Feb 15 doi: 10.1212/WNL.0000000000011698. PMID: 33589534
St John M, Ponchard C, van Reyk O, Mei C, Pigdon L, Amor DJ, Morgan AT
J Commun Disord 2019 Mar-Apr;78:84-96. Epub 2019 Feb 12 doi: 10.1016/j.jcomdis.2019.02.003. PMID: 30822601
Reichow B, Hume K, Barton EE, Boyd BA
Cochrane Database Syst Rev 2018 May 9;5(5):CD009260. doi: 10.1002/14651858.CD009260.pub3. PMID: 29742275Free PMC Article

Diagnosis

St John M, Amor DJ, Morgan AT
Am J Med Genet A 2022 Dec;188(12):3389-3400. Epub 2022 Jul 27 doi: 10.1002/ajmg.a.62899. PMID: 35892268
Ahufinger N, Ferinu L, Sanz-Torrent M, Andreu L, Evans JL
Int J Lang Commun Disord 2022 Jan;57(1):42-62. Epub 2021 Oct 6 doi: 10.1111/1460-6984.12673. PMID: 34613648Free PMC Article
Miniscalco C, Carlsson E
Clin Linguist Phon 2022 May 4;36(4-5):398-416. Epub 2021 Feb 8 doi: 10.1080/02699206.2021.1874536. PMID: 33554685
Helt M, Kelley E, Kinsbourne M, Pandey J, Boorstein H, Herbert M, Fein D
Neuropsychol Rev 2008 Dec;18(4):339-66. Epub 2008 Nov 14 doi: 10.1007/s11065-008-9075-9. PMID: 19009353
Petersen MC, Kube DA, Palmer FB
Semin Pediatr Neurol 1998 Mar;5(1):2-14. doi: 10.1016/s1071-9091(98)80012-0. PMID: 9548635

Therapy

MacKeith S, Mulvaney CA, Galbraith K, Webster KE, Connolly R, Paing A, Marom T, Daniel M, Venekamp RP, Rovers MM, Schilder AG
Cochrane Database Syst Rev 2023 Nov 15;11(11):CD015215. doi: 10.1002/14651858.CD015215.pub2. PMID: 37965944Free PMC Article
Hoffmann A, Krause SE, Wuu J, Leurgans S, Guter SJ Jr, Block SS, Salt J, Cook E Jr, Maino DM, Berry-Kravis E
J Neurodev Disord 2019 Oct 16;11(1):25. doi: 10.1186/s11689-019-9285-x. PMID: 31619160Free PMC Article
Reichow B, Hume K, Barton EE, Boyd BA
Cochrane Database Syst Rev 2018 May 9;5(5):CD009260. doi: 10.1002/14651858.CD009260.pub3. PMID: 29742275Free PMC Article
Ebbels SH, Marić N, Murphy A, Turner G
Int J Lang Commun Disord 2014 Jan-Feb;49(1):30-48. Epub 2013 Sep 11 doi: 10.1111/1460-6984.12047. PMID: 24372884
Wake M, Levickis P, Tobin S, Zens N, Law J, Gold L, Ukoumunne OC, Goldfeld S, Le HN, Skeat J, Reilly S
BMC Pediatr 2012 Jul 9;12:96. doi: 10.1186/1471-2431-12-96. PMID: 22776103Free PMC Article

Prognosis

Ahufinger N, Ferinu L, Sanz-Torrent M, Andreu L, Evans JL
Int J Lang Commun Disord 2022 Jan;57(1):42-62. Epub 2021 Oct 6 doi: 10.1111/1460-6984.12673. PMID: 34613648Free PMC Article
Miniscalco C, Carlsson E
Clin Linguist Phon 2022 May 4;36(4-5):398-416. Epub 2021 Feb 8 doi: 10.1080/02699206.2021.1874536. PMID: 33554685
Brignell A, Gu C, Holm A, Carrigg B, Sheppard DA, Amor DJ, Morgan AT
Eur J Hum Genet 2021 Apr;29(4):564-574. Epub 2020 Dec 8 doi: 10.1038/s41431-020-00761-1. PMID: 33293697Free PMC Article
Benítez-Burraco A, Fernández-Urquiza M, Jiménez-Romero S
Clin Linguist Phon 2021 Jul 3;35(7):610-635. Epub 2020 Aug 28 doi: 10.1080/02699206.2020.1812119. PMID: 32856472
Helt M, Kelley E, Kinsbourne M, Pandey J, Boorstein H, Herbert M, Fein D
Neuropsychol Rev 2008 Dec;18(4):339-66. Epub 2008 Nov 14 doi: 10.1007/s11065-008-9075-9. PMID: 19009353

Clinical prediction guides

Waizbard-Bartov E, Fein D, Lord C, Amaral DG
Autism Res 2023 Apr;16(4):685-696. Epub 2023 Feb 14 doi: 10.1002/aur.2898. PMID: 36786314Free PMC Article
Ahufinger N, Ferinu L, Sanz-Torrent M, Andreu L, Evans JL
Int J Lang Commun Disord 2022 Jan;57(1):42-62. Epub 2021 Oct 6 doi: 10.1111/1460-6984.12673. PMID: 34613648Free PMC Article
Miniscalco C, Carlsson E
Clin Linguist Phon 2022 May 4;36(4-5):398-416. Epub 2021 Feb 8 doi: 10.1080/02699206.2021.1874536. PMID: 33554685
Brignell A, Gu C, Holm A, Carrigg B, Sheppard DA, Amor DJ, Morgan AT
Eur J Hum Genet 2021 Apr;29(4):564-574. Epub 2020 Dec 8 doi: 10.1038/s41431-020-00761-1. PMID: 33293697Free PMC Article
Benítez-Burraco A, Fernández-Urquiza M, Jiménez-Romero S
Clin Linguist Phon 2021 Jul 3;35(7):610-635. Epub 2020 Aug 28 doi: 10.1080/02699206.2020.1812119. PMID: 32856472

Recent systematic reviews

MacKeith S, Mulvaney CA, Galbraith K, Webster KE, Connolly R, Paing A, Marom T, Daniel M, Venekamp RP, Rovers MM, Schilder AG
Cochrane Database Syst Rev 2023 Nov 15;11(11):CD015215. doi: 10.1002/14651858.CD015215.pub2. PMID: 37965944Free PMC Article
Braden RO, Leventer RJ, Jansen A, Scheffer IE, Morgan AT
Dev Med Child Neurol 2019 Oct;61(10):1145-1152. Epub 2019 Jan 25 doi: 10.1111/dmcn.14153. PMID: 30680716
Reichow B, Hume K, Barton EE, Boyd BA
Cochrane Database Syst Rev 2018 May 9;5(5):CD009260. doi: 10.1002/14651858.CD009260.pub3. PMID: 29742275Free PMC Article
Nelson HD, Bougatsos C, Nygren P; 2001 US Preventive Services Task Force
Pediatrics 2008 Jul;122(1):e266-76. doi: 10.1542/peds.2007-1422. PMID: 18595973
Frank DA, Augustyn M, Knight WG, Pell T, Zuckerman B
JAMA 2001 Mar 28;285(12):1613-25. doi: 10.1001/jama.285.12.1613. PMID: 11268270Free PMC Article

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