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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.
See: Condition Record
Intellectual disability, autosomal dominant 42

Professional guidelines

PubMed

Speech and language development and genotype-phenotype correlation in 49 individuals with KAT6A syndrome.
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
Neurodevelopmental outcome in Angelman syndrome: genotype-phenotype correlations.
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
Universal newborn hearing screening: systematic review to update the 2001 US Preventive Services Task Force Recommendation.
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

Ventilation tubes (grommets) for otitis media with effusion (OME) in children.
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
Statistical word learning in Catalan-Spanish and English-speaking children with and without developmental language disorder.
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
Speech, Language, and Oromotor Skills in Patients With Polymicrogyria.
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
Speech and language in children with Klinefelter syndrome.
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
Early intensive behavioral intervention (EIBI) for young children with autism spectrum disorders (ASD).
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

Describing communication profiles of low-risk preterm and full-term late talkers.
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
Autism severity and its relationship to disability.
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
Speech and language development and genotype-phenotype correlation in 49 individuals with KAT6A syndrome.
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
Statistical word learning in Catalan-Spanish and English-speaking children with and without developmental language disorder.
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
Classification of developmental delays.
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

Ventilation tubes (grommets) for otitis media with effusion (OME) in children.
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
Heterogeneity of autism symptoms in community-referred infants and toddlers at elevated or low familial likelihood of autism.
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
Vocabulary comprehension in adults with fragile X syndrome (FXS).
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
Early intensive behavioral intervention (EIBI) for young children with autism spectrum disorders (ASD).
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
The efficacy of treatment for children with developmental speech and language delay/disorder: a meta-analysis.
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

Statistical word learning in Catalan-Spanish and English-speaking children with and without developmental language disorder.
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
A longitudinal case study of six children with autism and specified language and non-verbal profiles.
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
Speech and language phenotype in Phelan-McDermid (22q13.3) syndrome.
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
Language impairment with a microduplication in 1q42.3q43.
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
Language profiles and literacy outcomes of children with resolving, emerging, or persisting language impairments.
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

Autism severity and its relationship to disability.
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
Statistical word learning in Catalan-Spanish and English-speaking children with and without developmental language disorder.
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
Speech and language phenotype in Phelan-McDermid (22q13.3) syndrome.
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
Language impairment with a microduplication in 1q42.3q43.
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
Speech and language in children with Klinefelter syndrome.
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

NR4A2 as a Novel Target Gene for Developmental and Epileptic Encephalopathy: A Systematic Review of Related Disorders and Therapeutic Strategies.
Gabaldon-Albero A, Mayo S, Martinez F
Int J Mol Sci 2024 May 10;25(10) doi: 10.3390/ijms25105198. PMID: 38791237Free PMC Article
Ventilation tubes (grommets) for otitis media with effusion (OME) in children.
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
Speech and language in bilateral perisylvian polymicrogyria: a systematic review.
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
Early intensive behavioral intervention (EIBI) for young children with autism spectrum disorders (ASD).
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
Universal newborn hearing screening: systematic review to update the 2001 US Preventive Services Task Force Recommendation.
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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