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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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Clinical practice guideline and expert consensus recommendations for rehabilitation among children with cancer: A systematic review.
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
Buprenorphine initiation strategies for opioid use disorder and pain management: A systematic review.
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
New Australian guidelines for the treatment of alcohol problems: an overview of recommendations.
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

Somatic symptom disorder: a scoping review on the empirical evidence of a new 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
New Australian guidelines for the treatment of alcohol problems: an overview of recommendations.
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
An intensive swallowing exercise protocol for improving swallowing physiology in older adults with radiographically confirmed dysphagia.
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
Classifying neurocognitive disorders: the DSM-5 approach.
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
Developmental disorders of language and literacy: special issue.
Marshall CR, Messaoud-Galusi S
Br J Dev Psychol 2010 Mar;28(Pt 1):1-4. doi: 10.1348/026151009x485162. PMID: 20306622

Diagnosis

Somatic symptom disorder: a scoping review on the empirical evidence of a new 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
New Australian guidelines for the treatment of alcohol problems: an overview of recommendations.
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
Autism spectrum heterogeneity: fact or artifact?
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
Classifying neurocognitive disorders: the DSM-5 approach.
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
Diagnosing developmental coordination disorders.
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

Autism Spectrum Disorder: A Review.
Hirota T, King BH
JAMA 2023 Jan 10;329(2):157-168. doi: 10.1001/jama.2022.23661. PMID: 36625807
Physiotherapy for pain and disability in adults with complex regional pain syndrome (CRPS) types I and II.
Smart KM, Ferraro MC, Wand BM, O'Connell NE
Cochrane Database Syst Rev 2022 May 17;5(5):CD010853. doi: 10.1002/14651858.CD010853.pub3. PMID: 35579382Free PMC Article
Music therapy for autistic people.
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
Association Between Physical Activity and Risk of Depression: A Systematic Review and Meta-analysis.
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
Mortality in mental disorders and global disease burden implications: a systematic review and meta-analysis.
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

Somatic symptom disorder: a scoping review on the empirical evidence of a new 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
New Australian guidelines for the treatment of alcohol problems: an overview of recommendations.
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
The Prevalence of Anxiety Disorders During Pregnancy and the Postpartum Period: A Multivariate Bayesian Meta-Analysis.
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
Mortality in mental disorders and global disease burden implications: a systematic review and meta-analysis.
Walker ER, McGee RE, Druss BG
JAMA Psychiatry 2015 Apr;72(4):334-41. doi: 10.1001/jamapsychiatry.2014.2502. PMID: 25671328Free PMC Article
Developmental dyscalculia.
Shalev RS
J Child Neurol 2004 Oct;19(10):765-71. doi: 10.1177/08830738040190100601. PMID: 15559892

Clinical prediction guides

Effect of Acupuncture vs Sham Acupuncture on Patients With Poststroke Motor Aphasia: A Randomized Clinical Trial.
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
Spontaneous productions of infinitive clauses by English-speaking children with and without specific language impairment.
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
The Prevalence of Anxiety Disorders During Pregnancy and the Postpartum Period: A Multivariate Bayesian Meta-Analysis.
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
An intensive swallowing exercise protocol for improving swallowing physiology in older adults with radiographically confirmed dysphagia.
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
The effect of exercise training in adults with multiple sclerosis with severe mobility disability: A systematic review and future research directions.
Edwards T, Pilutti LA
Mult Scler Relat Disord 2017 Aug;16:31-39. Epub 2017 Jun 12 doi: 10.1016/j.msard.2017.06.003. PMID: 28755682

Recent systematic reviews

Physiotherapy for pain and disability in adults with complex regional pain syndrome (CRPS) types I and II.
Smart KM, Ferraro MC, Wand BM, O'Connell NE
Cochrane Database Syst Rev 2022 May 17;5(5):CD010853. doi: 10.1002/14651858.CD010853.pub3. PMID: 35579382Free PMC Article
Music therapy for autistic people.
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
Association Between Physical Activity and Risk of Depression: A Systematic Review and Meta-analysis.
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
Machine Learning and Natural Language Processing in Mental Health: Systematic Review.
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
Mortality in mental disorders and global disease burden implications: a systematic review and meta-analysis.
Walker ER, McGee RE, Druss BG
JAMA Psychiatry 2015 Apr;72(4):334-41. doi: 10.1001/jamapsychiatry.2014.2502. PMID: 25671328Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

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    Related information

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      Related medical variations
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      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
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