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Specific language impairment 5(SLI5)

MedGen UID:
815813
Concept ID:
C3809483
Disease or Syndrome
Synonym: SLI5
 
Gene (location): TM4SF20 (2q36.3)
 
Monarch Initiative: MONDO:0014184
OMIM®: 615432

Definition

Specific language impairment-5 (SLI5) is characterized by a delay in early speech acquisition and is usually associated with cerebral white matter abnormalities on brain MRI. Some individuals may show disorders in communication, consistent with autism spectrum disorder, or global developmental delay, although others ultimately show normal cognitive function. Penetrance is incomplete and expressivity is variable. This type of disorder is observed most commonly among individuals of East Asian descent (summary by Wiszniewski et al., 2013). 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.
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.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Autistic behavior
MedGen UID:
163547
Concept ID:
C0856975
Mental or Behavioral Dysfunction
Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
Hyperintensity of cerebral white matter on MRI
MedGen UID:
811125
Concept ID:
C2938912
Pathologic Function
A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter.

Professional guidelines

PubMed

L'Hotta AJ, Randolph SB, Reader B, Lipsey K, King AA
CA Cancer J Clin 2023 Sep-Oct;73(5):524-545. Epub 2023 May 9 doi: 10.3322/caac.21783. PMID: 37158423Free PMC Article
Spreen LA, Dittmar EN, Quirk KC, Smith MA
Pharmacotherapy 2022 May;42(5):411-427. Epub 2022 Mar 25 doi: 10.1002/phar.2676. PMID: 35302671Free PMC Article
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

Recent clinical studies

Etiology

Löwe B, Levenson J, Depping M, Hüsing P, Kohlmann S, Lehmann M, Shedden-Mora M, Toussaint A, Uhlenbusch N, Weigel A
Psychol Med 2022 Mar;52(4):632-648. Epub 2021 Nov 15 doi: 10.1017/S0033291721004177. PMID: 34776017Free PMC Article
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
Balou M, Herzberg EG, Kamelhar D, Molfenter SM
Clin Interv Aging 2019;14:283-288. Epub 2019 Feb 11 doi: 10.2147/CIA.S194723. PMID: 30804667Free PMC Article
Sachdev PS, Blacker D, Blazer DG, Ganguli M, Jeste DV, Paulsen JS, Petersen RC
Nat Rev Neurol 2014 Nov;10(11):634-42. Epub 2014 Sep 30 doi: 10.1038/nrneurol.2014.181. PMID: 25266297
Marshall CR, Messaoud-Galusi S
Br J Dev Psychol 2010 Mar;28(Pt 1):1-4. doi: 10.1348/026151009x485162. PMID: 20306622

Diagnosis

Löwe B, Levenson J, Depping M, Hüsing P, Kohlmann S, Lehmann M, Shedden-Mora M, Toussaint A, Uhlenbusch N, Weigel A
Psychol Med 2022 Mar;52(4):632-648. Epub 2021 Nov 15 doi: 10.1017/S0033291721004177. PMID: 34776017Free PMC Article
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
Mottron L, Bzdok D
Mol Psychiatry 2020 Dec;25(12):3178-3185. Epub 2020 Apr 30 doi: 10.1038/s41380-020-0748-y. PMID: 32355335Free PMC Article
Sachdev PS, Blacker D, Blazer DG, Ganguli M, Jeste DV, Paulsen JS, Petersen RC
Nat Rev Neurol 2014 Nov;10(11):634-42. Epub 2014 Sep 30 doi: 10.1038/nrneurol.2014.181. PMID: 25266297
Kirby A, Sugden D, Purcell C
Arch Dis Child 2014 Mar;99(3):292-6. Epub 2013 Nov 19 doi: 10.1136/archdischild-2012-303569. PMID: 24255567

Therapy

Thompson B, Waterhouse M, English DR, McLeod DS, Armstrong BK, Baxter C, Duarte Romero B, Ebeling PR, Hartel G, Kimlin MG, Rahman ST, van der Pols JC, Venn AJ, Webb PM, Whiteman DC, Neale RE
BMJ 2023 Jun 28;381:e075230. doi: 10.1136/bmj-2023-075230. PMID: 37380191Free PMC Article
Hirota T, King BH
JAMA 2023 Jan 10;329(2):157-168. doi: 10.1001/jama.2022.23661. PMID: 36625807
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
Walker ER, McGee RE, Druss BG
JAMA Psychiatry 2015 Apr;72(4):334-41. doi: 10.1001/jamapsychiatry.2014.2502. PMID: 25671328Free PMC Article

Prognosis

Löwe B, Levenson J, Depping M, Hüsing P, Kohlmann S, Lehmann M, Shedden-Mora M, Toussaint A, Uhlenbusch N, Weigel A
Psychol Med 2022 Mar;52(4):632-648. Epub 2021 Nov 15 doi: 10.1017/S0033291721004177. PMID: 34776017Free PMC Article
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
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
Snijders Blok L, Hiatt SM, Bowling KM, Prokop JW, Engel KL, Cochran JN, Bebin EM, Bijlsma EK, Ruivenkamp CAL, Terhal P, Simon MEH, Smith R, Hurst JA; DDD study, McLaughlin H, Person R, Crunk A, Wangler MF, Streff H, Symonds JD, Zuberi SM, Elliott KS, Sanders VR, Masunga A, Hopkin RJ, Dubbs HA, Ortiz-Gonzalez XR, Pfundt R, Brunner HG, Fisher SE, Kleefstra T, Cooper GM
Hum Genet 2018 May;137(5):375-388. Epub 2018 May 8 doi: 10.1007/s00439-018-1887-y. PMID: 29740699Free 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

Li B, Deng S, Zhuo B, Sang B, Chen J, Zhang M, Tian G, Zhang L, Du Y, Zheng P, Yue G, Meng Z
JAMA Netw Open 2024 Jan 2;7(1):e2352580. doi: 10.1001/jamanetworkopen.2023.52580. PMID: 38252438Free PMC Article
Levassort H, Boucquemont J, Alencar de Pinho N, Lambert O, Helmer C, Metzger M, Teillet L, Frimat L, Combe C, Fouque D, Laville M, Jacquelinet C, Liabeuf S, Stengel B, Massy ZA, Pépin M; CKD-REIN Study Collaborators
Nephrol Dial Transplant 2024 Apr 26;39(5):848-859. doi: 10.1093/ndt/gfad244. PMID: 37950574Free PMC Article
Gonzalez R, Rojas M, Ardila A
Int J Lang Commun Disord 2020 Nov;55(6):875-883. Epub 2020 Jul 31 doi: 10.1111/1460-6984.12566. PMID: 32735061
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
Balou M, Herzberg EG, Kamelhar D, Molfenter SM
Clin Interv Aging 2019;14:283-288. Epub 2019 Feb 11 doi: 10.2147/CIA.S194723. PMID: 30804667Free PMC Article

Recent systematic reviews

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
Le Glaz A, Haralambous Y, Kim-Dufor DH, Lenca P, Billot R, Ryan TC, Marsh J, DeVylder J, Walter M, Berrouiguet S, Lemey C
J Med Internet Res 2021 May 4;23(5):e15708. doi: 10.2196/15708. PMID: 33944788Free PMC Article
van Dis EAM, van Veen SC, Hagenaars MA, Batelaan NM, Bockting CLH, van den Heuvel RM, Cuijpers P, Engelhard IM
JAMA Psychiatry 2020 Mar 1;77(3):265-273. doi: 10.1001/jamapsychiatry.2019.3986. PMID: 31758858Free 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

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