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Specific language impairment 2(SLI2)

MedGen UID:
338273
Concept ID:
C1847605
Disease or Syndrome
Synonyms: SLI2; SPECIFIC LANGUAGE IMPAIRMENT QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 19
 
Monarch Initiative: MONDO:0011711
OMIM®: 606712

Definition

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). [from OMIM]

Clinical features

From HPO
Language disorder
MedGen UID:
44069
Concept ID:
C0023015
Mental or Behavioral Dysfunction
Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations.
Expressive language delay
MedGen UID:
141568
Concept ID:
C0454641
Disease or Syndrome
A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.
Deficit in phonologic short-term memory
MedGen UID:
339803
Concept ID:
C1847609
Finding
Impaired ability to repeat non-word sounds. The test for nonword repetition involves the repetition of nonsensical words of increasing length and complexity and is regarded as a measure of phonological (speech sound) processing and short-term memory
Deficit in nonword repetition
MedGen UID:
871222
Concept ID:
C4025702
Finding
Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory.

Professional guidelines

PubMed

Riva A, D'Onofrio G, Ferlazzo E, Pascarella A, Pasini E, Franceschetti S, Panzica F, Canafoglia L, Vignoli A, Coppola A, Badioni V, Beccaria F, Labate A, Gambardella A, Romeo A, Capovilla G, Michelucci R, Striano P, Belcastro V
Epilepsia Open 2024 Apr;9(2):486-500. Epub 2024 Feb 9 doi: 10.1002/epi4.12917. PMID: 38334331Free PMC Article
Volkmer A, Rogalski E, Henry M, Taylor-Rubin C, Ruggero L, Khayum R, Kindell J, Gorno-Tempini ML, Warren JD, Rohrer JD
Pract Neurol 2020 Apr;20(2):154-161. Epub 2019 Jul 29 doi: 10.1136/practneurol-2018-001921. PMID: 31358572Free PMC Article
Kreiner DS, Hwang SW, Easa JE, Resnick DK, Baisden JL, Bess S, Cho CH, DePalma MJ, Dougherty P 2nd, Fernand R, Ghiselli G, Hanna AS, Lamer T, Lisi AJ, Mazanec DJ, Meagher RJ, Nucci RC, Patel RD, Sembrano JN, Sharma AK, Summers JT, Taleghani CK, Tontz WL Jr, Toton JF; North American Spine Society
Spine J 2014 Jan;14(1):180-91. Epub 2013 Nov 14 doi: 10.1016/j.spinee.2013.08.003. PMID: 24239490

Recent clinical studies

Therapy

Hirota T, King BH
JAMA 2023 Jan 10;329(2):157-168. doi: 10.1001/jama.2022.23661. PMID: 36625807
Liu RT, Walsh RFL, Sheehan AE, Cheek SM, Sanzari CM
JAMA Psychiatry 2022 Jul 1;79(7):718-726. doi: 10.1001/jamapsychiatry.2022.1256. PMID: 35612875Free PMC Article
Pearce M, Garcia L, Abbas A, Strain T, Schuch FB, Golubic R, Kelly P, Khan S, Utukuri M, Laird Y, Mok A, Smith A, Tainio M, Brage S, Woodcock J
JAMA Psychiatry 2022 Jun 1;79(6):550-559. doi: 10.1001/jamapsychiatry.2022.0609. PMID: 35416941Free PMC Article
Sheppard SM, Sebastian R
Expert Rev Neurother 2021 Feb;21(2):221-234. Epub 2020 Dec 10 doi: 10.1080/14737175.2020.1855976. PMID: 33231117Free PMC Article
Kreiner DS, Hwang SW, Easa JE, Resnick DK, Baisden JL, Bess S, Cho CH, DePalma MJ, Dougherty P 2nd, Fernand R, Ghiselli G, Hanna AS, Lamer T, Lisi AJ, Mazanec DJ, Meagher RJ, Nucci RC, Patel RD, Sembrano JN, Sharma AK, Summers JT, Taleghani CK, Tontz WL Jr, Toton JF; North American Spine Society
Spine J 2014 Jan;14(1):180-91. Epub 2013 Nov 14 doi: 10.1016/j.spinee.2013.08.003. PMID: 24239490

Prognosis

Haber PS, Riordan BC, Winter DT, Barrett L, Saunders J, Hides L, Gullo M, Manning V, Day CA, Bonomo Y, Burns L, Assan R, Curry K, Mooney-Somers J, Demirkol A, Monds L, McDonough M, Baillie AJ, Clark P, Ritter A, Quinn C, Cunningham J, Lintzeris N, Rombouts S, Savic M, Norman A, Reid S, Hutchinson D, Zheng C, Iese Y, Black N, Draper B, Ridley N, Gowing L, Stapinski L, Taye B, Lancaster K, Stjepanović D, Kay-Lambkin F, Jamshidi N, Lubman D, Pastor A, White N, Wilson S, Jaworski AL, Memedovic S, Logge W, Mills K, Seear K, Freeburn B, Lea T, Withall A, Marel C, Boffa J, Roxburgh A, Purcell-Khodr G, Doyle M, Conigrave K, Teesson M, Butler K, Connor J, Morley KC
Med J Aust 2021 Oct 4;215 Suppl 7:S3-S32. doi: 10.5694/mja2.51254. PMID: 34601742
Bogaerts L, Siegelman N, Frost R
Perspect Psychol Sci 2021 Mar;16(2):319-337. Epub 2020 Nov 2 doi: 10.1177/1745691620953082. PMID: 33136519Free PMC Article
Fawcett EJ, Fairbrother N, Cox ML, White IR, Fawcett JM
J Clin Psychiatry 2019 Jul 23;80(4) doi: 10.4088/JCP.18r12527. PMID: 31347796Free PMC Article
Bishop DVM, Snowling MJ, Thompson PA, Greenhalgh T; and the CATALISE-2 consortium
J Child Psychol Psychiatry 2017 Oct;58(10):1068-1080. Epub 2017 Mar 30 doi: 10.1111/jcpp.12721. PMID: 28369935Free PMC Article
Walker ER, McGee RE, Druss BG
JAMA Psychiatry 2015 Apr;72(4):334-41. doi: 10.1001/jamapsychiatry.2014.2502. PMID: 25671328Free PMC Article

Clinical prediction guides

Cermak CA, Arshinoff S, Ribeiro de Oliveira L, Tendera A, Beal DS, Brian J, Anagnostou E, Sanjeevan T
J Autism Dev Disord 2022 Feb;52(2):725-737. Epub 2021 Mar 25 doi: 10.1007/s10803-021-04975-0. PMID: 33765302
Baraldi MA, Avanzino L, Pelosin E, Domaneschi F, Di Paola S, Lagravinese G
Brain Cogn 2021 Jun;150:105706. Epub 2021 Mar 21 doi: 10.1016/j.bandc.2021.105706. PMID: 33761383
Bogaerts L, Siegelman N, Frost R
Perspect Psychol Sci 2021 Mar;16(2):319-337. Epub 2020 Nov 2 doi: 10.1177/1745691620953082. PMID: 33136519Free PMC Article
Moyle J, Stokes SF, Klee T
Dev Disabil Res Rev 2011;17(2):160-9. doi: 10.1002/ddrr.1110. PMID: 23362035
Martins IP
Clin Neurosci 1997;4(2):73-7. PMID: 9059756

Recent systematic reviews

Gómez-Soria I, Iguacel I, Aguilar-Latorre A, Peralta-Marrupe P, Latorre E, Zaldívar JNC, Calatayud E
Arch Gerontol Geriatr 2023 Jan;104:104807. Epub 2022 Sep 6 doi: 10.1016/j.archger.2022.104807. PMID: 36116285
Liu RT, Walsh RFL, Sheehan AE, Cheek SM, Sanzari CM
JAMA Psychiatry 2022 Jul 1;79(7):718-726. doi: 10.1001/jamapsychiatry.2022.1256. PMID: 35612875Free PMC Article
Pearce M, Garcia L, Abbas A, Strain T, Schuch FB, Golubic R, Kelly P, Khan S, Utukuri M, Laird Y, Mok A, Smith A, Tainio M, Brage S, Woodcock J
JAMA Psychiatry 2022 Jun 1;79(6):550-559. doi: 10.1001/jamapsychiatry.2022.0609. PMID: 35416941Free PMC Article
Walker ER, McGee RE, Druss BG
JAMA Psychiatry 2015 Apr;72(4):334-41. doi: 10.1001/jamapsychiatry.2014.2502. PMID: 25671328Free PMC Article
Kreiner DS, Hwang SW, Easa JE, Resnick DK, Baisden JL, Bess S, Cho CH, DePalma MJ, Dougherty P 2nd, Fernand R, Ghiselli G, Hanna AS, Lamer T, Lisi AJ, Mazanec DJ, Meagher RJ, Nucci RC, Patel RD, Sembrano JN, Sharma AK, Summers JT, Taleghani CK, Tontz WL Jr, Toton JF; North American Spine Society
Spine J 2014 Jan;14(1):180-91. Epub 2013 Nov 14 doi: 10.1016/j.spinee.2013.08.003. PMID: 24239490

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