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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
Mertz LG, Thaulov P, Trillingsgaard A, Christensen R, Vogel I, Hertz JM, Ostergaard JR
Res Dev Disabil 2014 Jul;35(7):1742-7. Epub 2014 Mar 19 doi: 10.1016/j.ridd.2014.02.018. PMID: 24656292
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

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
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
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

Zuccarini M, Guarini A, Gibertoni D, Suttora C, Aceti A, Corvaglia L, Bello A, Caselli MC, Sansavini A
J Commun Disord 2023 Jul-Aug;104:106336. Epub 2023 May 29 doi: 10.1016/j.jcomdis.2023.106336. PMID: 37257297
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
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
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
Cohenour TL, Gulsrud A, Kasari C
Autism Res 2023 Sep;16(9):1739-1749. Epub 2023 Jul 5 doi: 10.1002/aur.2973. PMID: 37408377Free 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
Law J, Garrett Z, Nye C
J Speech Lang Hear Res 2004 Aug;47(4):924-43. doi: 10.1044/1092-4388(2004/069). PMID: 15324296

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
Snowling MJ, Duff FJ, Nash HM, Hulme C
J Child Psychol Psychiatry 2016 Dec;57(12):1360-1369. Epub 2015 Dec 17 doi: 10.1111/jcpp.12497. PMID: 26681150Free PMC Article

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
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
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

Recent systematic reviews

Gabaldon-Albero A, Mayo S, Martinez F
Int J Mol Sci 2024 May 10;25(10) doi: 10.3390/ijms25105198. PMID: 38791237Free PMC Article
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

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