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Deficit in nonword repetition

MedGen UID:
871222
Concept ID:
C4025702
Finding
HPO: HP:0002526

Definition

Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDeficit in nonword repetition

Conditions with this feature

Specific language impairment 2
MedGen UID:
338273
Concept ID:
C1847605
Disease or Syndrome
Specific language impairment (SLI) is diagnosed in children who exhibit significant language deficits despite adequate educational opportunity and normal nonverbal intelligence. SLI2 represents a locus influencing language-related traits on chromosome 19q (SLI Consortium, 2002, SLI Consortium, 2004). For a phenotypic description and a discussion of genetic heterogeneity of specific language impairment, see SLI1 (602081).
Specific language impairment 1
MedGen UID:
339804
Concept ID:
C1847614
Disease or Syndrome
Specific language impairment (SLI) is a common developmental disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors (summary by Newbury et al., 2009). Genetic Heterogeneity of Specific Language Impairment Multiple loci for specific language impairment have been mapped, including SLI1 on chromosome 16q; SLI2 (606712) on chromosome 19q; SLI3 (607134) on chromosome 13q21; SLI4 (612514) on chromosome 7q35-36; and SLI5 (615432), caused by mutation in the TM4SF20 gene (615404) on chromosome 2q36.

Professional guidelines

PubMed

Bislick L
Am J Speech Lang Pathol 2020 Nov 12;29(4):2109-2130. Epub 2020 Sep 30 doi: 10.1044/2020_AJSLP-19-00116. PMID: 32997520

Recent clinical studies

Etiology

Hinkley LBN, Thompson M, Miller ZA, Borghesani V, Mizuiri D, Shwe W, Licata A, Ninomiya S, Lauricella M, Mandelli ML, Miller BL, Houde J, Gorno-Tempini ML, Nagarajan SS
Hum Brain Mapp 2023 Oct 1;44(14):4833-4847. Epub 2023 Jul 30 doi: 10.1002/hbm.26408. PMID: 37516916Free PMC Article
Matuszkiewicz M, Gałkowski T
J Speech Lang Hear Res 2021 Mar 17;64(3):935-948. Epub 2021 Feb 23 doi: 10.1044/2020_JSLHR-19-00423. PMID: 33621124
Peter B, Albert A, Panagiotides H, Gray S
Clin Linguist Phon 2021 Apr 3;35(4):340-367. Epub 2020 Jan 20 doi: 10.1080/02699206.2019.1705916. PMID: 31959003
Sasisekaran J, Basu S, Weathers EJ
J Commun Disord 2019 Sep-Oct;81:105916. Epub 2019 Jun 18 doi: 10.1016/j.jcomdis.2019.105916. PMID: 31325632
Archibald LM, Gathercole SE
Psychon Bull Rev 2007 Oct;14(5):919-24. doi: 10.3758/bf03194122. PMID: 18087960

Diagnosis

Kasperek A, Kingma A, de Aguiar V
J Speech Lang Hear Res 2023 Nov 9;66(11):4464-4480. Epub 2023 Sep 29 doi: 10.1044/2023_JSLHR-22-00706. PMID: 37774742
Hinkley LBN, Thompson M, Miller ZA, Borghesani V, Mizuiri D, Shwe W, Licata A, Ninomiya S, Lauricella M, Mandelli ML, Miller BL, Houde J, Gorno-Tempini ML, Nagarajan SS
Hum Brain Mapp 2023 Oct 1;44(14):4833-4847. Epub 2023 Jul 30 doi: 10.1002/hbm.26408. PMID: 37516916Free PMC Article
Redmond SM
J Speech Lang Hear Res 2016 Feb;59(1):133-42. doi: 10.1044/2015_JSLHR-L-15-0038. PMID: 26502026Free PMC Article
Coady JA, Evans JL
Int J Lang Commun Disord 2008 Jan-Feb;43(1):1-40. doi: 10.1080/13682820601116485. PMID: 18176883Free PMC Article
Archibald LM, Gathercole SE
Psychon Bull Rev 2007 Oct;14(5):919-24. doi: 10.3758/bf03194122. PMID: 18087960

Therapy

Toth M, Sambeth A, Blokland A
Hum Psychopharmacol 2022 Mar;37(2):e2819. Epub 2021 Sep 17 doi: 10.1002/hup.2819. PMID: 34533841Free PMC Article
Bedoin N, Besombes AM, Escande E, Dumont A, Lalitte P, Tillmann B
Ann Phys Rehabil Med 2018 Nov;61(6):365-371. Epub 2017 May 11 doi: 10.1016/j.rehab.2017.03.004. PMID: 28506442
Henderson LM, Warmington M
Res Dev Disabil 2017 Jan;60:198-210. Epub 2016 Nov 14 doi: 10.1016/j.ridd.2016.11.002. PMID: 27856107
Redmond SM, Thompson HL, Goldstein S
J Speech Lang Hear Res 2011 Feb;54(1):99-117. Epub 2010 Aug 18 doi: 10.1044/1092-4388(2010/10-0010). PMID: 20719871Free PMC Article
Joly-Pottuz B, Mercier M, Leynaud A, Habib M
Neuropsychol Rehabil 2008 Aug;18(4):402-29. doi: 10.1080/09602010701529341. PMID: 18576269

Prognosis

Cheung RW, Hartley C, Monaghan P
J Speech Lang Hear Res 2022 Aug 17;65(8):2978-2995. Epub 2022 Aug 3 doi: 10.1044/2022_JSLHR-21-00610. PMID: 35921663Free PMC Article
Pisoni DB, Kronenberger WG
Cochlear Implants Int 2021 Jul;22(4):223-236. Epub 2021 Mar 5 doi: 10.1080/14670100.2021.1884433. PMID: 33673795Free PMC Article
Jokel A, Armstrong E, Gabis L, Segal O
Folia Phoniatr Logop 2021;73(3):222-232. Epub 2020 Aug 21 doi: 10.1159/000505744. PMID: 32829327
Sundström S, Löfkvist U, Lyxell B, Samuelsson C
Clin Linguist Phon 2018;32(10):950-971. Epub 2018 May 3 doi: 10.1080/02699206.2018.1469671. PMID: 29723069
Farukh A, Vulchanova M
Dyslexia 2014 May;20(2):146-66. Epub 2014 Mar 24 doi: 10.1002/dys.1474. PMID: 24664499Free PMC Article

Clinical prediction guides

Kasperek A, Kingma A, de Aguiar V
J Speech Lang Hear Res 2023 Nov 9;66(11):4464-4480. Epub 2023 Sep 29 doi: 10.1044/2023_JSLHR-22-00706. PMID: 37774742
Cheung RW, Hartley C, Monaghan P
J Speech Lang Hear Res 2022 Aug 17;65(8):2978-2995. Epub 2022 Aug 3 doi: 10.1044/2022_JSLHR-21-00610. PMID: 35921663Free PMC Article
Matuszkiewicz M, Gałkowski T
J Speech Lang Hear Res 2021 Mar 17;64(3):935-948. Epub 2021 Feb 23 doi: 10.1044/2020_JSLHR-19-00423. PMID: 33621124
Jokel A, Armstrong E, Gabis L, Segal O
Folia Phoniatr Logop 2021;73(3):222-232. Epub 2020 Aug 21 doi: 10.1159/000505744. PMID: 32829327
Sasisekaran J, Basu S, Weathers EJ
J Commun Disord 2019 Sep-Oct;81:105916. Epub 2019 Jun 18 doi: 10.1016/j.jcomdis.2019.105916. PMID: 31325632

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