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Specific language impairment 1(SLI1)

MedGen UID:
339804
Concept ID:
C1847614
Disease or Syndrome
Synonyms: SLI1; SPECIFIC LANGUAGE IMPAIRMENT QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 16
 
Monarch Initiative: MONDO:0011710
OMIM®: 606711

Definition

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. [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.
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
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

Schneider-Thoma J, Chalkou K, Dörries C, Bighelli I, Ceraso A, Huhn M, Siafis S, Davis JM, Cipriani A, Furukawa TA, Salanti G, Leucht S
Lancet 2022 Feb 26;399(10327):824-836. doi: 10.1016/S0140-6736(21)01997-8. PMID: 35219395
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

Etiology

Zawilska JB, Kuczyńska K
J Psychiatr Res 2022 Dec;156:349-360. Epub 2022 Oct 20 doi: 10.1016/j.jpsychires.2022.10.045. PMID: 36326545Free PMC Article
Selin C, Rice ML, Jackson Y
J Speech Lang Hear Res 2022 Sep 12;65(9):3471-3490. Epub 2022 Aug 16 doi: 10.1044/2022_JSLHR-21-00578. PMID: 35973108Free PMC Article
Brignell A, Chenausky KV, Song H, Zhu J, Suo C, Morgan AT
Cochrane Database Syst Rev 2018 Nov 5;11(11):CD012324. doi: 10.1002/14651858.CD012324.pub2. PMID: 30395694Free PMC Article
Schiff R, Nuri Ben-Shushan Y, Ben-Artzi E
J Learn Disabil 2017 Mar/Apr;50(2):143-157. Epub 2016 Aug 4 doi: 10.1177/0022219415589847. PMID: 26054726
Lee AS, Gibbon FE
Cochrane Database Syst Rev 2015 Mar 25;2015(3):CD009383. doi: 10.1002/14651858.CD009383.pub2. PMID: 25805060Free PMC Article

Diagnosis

Selin C, Rice ML, Jackson Y
J Speech Lang Hear Res 2022 Sep 12;65(9):3471-3490. Epub 2022 Aug 16 doi: 10.1044/2022_JSLHR-21-00578. PMID: 35973108Free PMC Article
Ebbels SH, McCartney E, Slonims V, Dockrell JE, Norbury CF
Int J Lang Commun Disord 2019 Jan;54(1):3-19. Epub 2018 Apr 25 doi: 10.1111/1460-6984.12387. PMID: 29696726
Brignell A, Chenausky KV, Song H, Zhu J, Suo C, Morgan AT
Cochrane Database Syst Rev 2018 Nov 5;11(11):CD012324. doi: 10.1002/14651858.CD012324.pub2. PMID: 30395694Free 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
Lee AS, Gibbon FE
Cochrane Database Syst Rev 2015 Mar 25;2015(3):CD009383. doi: 10.1002/14651858.CD009383.pub2. PMID: 25805060Free PMC Article

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
Geretsegger M, Fusar-Poli L, Elefant C, Mössler KA, Vitale G, Gold C
Cochrane Database Syst Rev 2022 May 9;5(5):CD004381. doi: 10.1002/14651858.CD004381.pub4. PMID: 35532041Free 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
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

Ferruz N, Schmidt S, Höcker B
Nat Commun 2022 Jul 27;13(1):4348. doi: 10.1038/s41467-022-32007-7. PMID: 35896542Free PMC Article
Ninan K, Liyanage SK, Murphy KE, Asztalos EV, McDonald SD
JAMA Pediatr 2022 Jun 1;176(6):e220483. Epub 2022 Jun 6 doi: 10.1001/jamapediatrics.2022.0483. PMID: 35404395Free 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
Suttrup I, Warnecke T
Dysphagia 2016 Feb;31(1):24-32. Epub 2015 Nov 21 doi: 10.1007/s00455-015-9671-9. PMID: 26590572
Paradis J
J Speech Lang Hear Res 2016 Feb;59(1):171-82. doi: 10.1044/2015_JSLHR-L-15-0008. PMID: 26501845

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
Wilder A, Redmond S
Clin Linguist Phon 2021 Jan 2;35(1):43-64. Epub 2020 Apr 14 doi: 10.1080/02699206.2020.1740323. PMID: 32290714Free PMC Article
Larson C, Kaplan D, Kaushanskaya M, Weismer SE
J Speech Lang Hear Res 2020 Apr 27;63(4):1115-1127. Epub 2020 Mar 24 doi: 10.1044/2019_JSLHR-19-00210. PMID: 32209012Free PMC Article
Ladányi E, Lukács Á
J Speech Lang Hear Res 2019 Apr 15;62(4):918-931. doi: 10.1044/2018_JSLHR-L-17-0446. PMID: 30986144
Spanoudis GC, Papadopoulos TC, Spyrou S
J Learn Disabil 2019 Jan/Feb;52(1):3-14. Epub 2018 May 23 doi: 10.1177/0022219418775111. PMID: 29790413

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
Geretsegger M, Fusar-Poli L, Elefant C, Mössler KA, Vitale G, Gold C
Cochrane Database Syst Rev 2022 May 9;5(5):CD004381. doi: 10.1002/14651858.CD004381.pub4. PMID: 35532041Free 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
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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