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

Professional guidelines

PubMed

Myoclonus: Differential diagnosis and current management.
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
Speech and language therapy approaches to managing primary progressive aphasia.
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
An evidence-based clinical guideline for the diagnosis and treatment of lumbar disc herniation with radiculopathy.
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

Psychiatric and neurological complications of long COVID.
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
Communication interventions for autism spectrum disorder in minimally verbal children.
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
Phase 2 of CATALISE: a multinational and multidisciplinary Delphi consensus study of problems with language development: Terminology.
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
A Clinical Evaluation of the Competing Sources of Input Hypothesis.
Fey ME, Leonard LB, Bredin-Oja SL, Deevy P
J Speech Lang Hear Res 2017 Jan 1;60(1):104-120. doi: 10.1044/2016_JSLHR-L-15-0448. PMID: 28114610Free PMC Article
Behavioral phenotype of individuals with Down syndrome.
Chapman RS, Hesketh LJ
Ment Retard Dev Disabil Res Rev 2000;6(2):84-95. doi: 10.1002/1098-2779(2000)6:2<84::AID-MRDD2>3.0.CO;2-P. PMID: 10899801

Diagnosis

Language intervention in bilingual children with developmental language disorder: A systematic review.
Kk Nair V, Clark GT, Siyambalapitiya S, Reuterskiöld C
Int J Lang Commun Disord 2023 Mar;58(2):576-600. Epub 2022 Nov 25 doi: 10.1111/1460-6984.12803. PMID: 36428270
Communication interventions for autism spectrum disorder in minimally verbal children.
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
Eyeblink conditioning: a non-invasive biomarker for neurodevelopmental disorders.
Reeb-Sutherland BC, Fox NA
J Autism Dev Disord 2015 Feb;45(2):376-94. doi: 10.1007/s10803-013-1905-9. PMID: 23942847
Special issue on developmental delay.
Levy Y, Ornoy A, Nevo Y
Dev Disabil Res Rev 2011;17(2):57-8. doi: 10.1002/ddrr.1100. PMID: 23362025
Autism, Asperger's syndrome and semantic-pragmatic disorder: where are the boundaries?
Bishop DV
Br J Disord Commun 1989 Aug;24(2):107-21. doi: 10.3109/13682828909011951. PMID: 2690915

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
Prevalence and Correlates of Suicide and Nonsuicidal Self-injury in Children: A Systematic Review and Meta-analysis.
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
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
Diagnosing and managing post-stroke aphasia.
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
An evidence-based clinical guideline for the diagnosis and treatment of lumbar disc herniation with radiculopathy.
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

Evaluation of a Telephone Version for the Montreal Cognitive Assessment: Establishing a Cutoff for Normative Data From a Cross-Sectional Study.
Klil-Drori S, Phillips N, Fernandez A, Solomon S, Klil-Drori AJ, Chertkow H
J Geriatr Psychiatry Neurol 2022 May;35(3):374-381. Epub 2021 Apr 16 doi: 10.1177/08919887211002640. PMID: 33858238
Pharyngeal Dystonia Mimicking Spasmodic Dysphonia.
Shi LL, Simpson CB, Hapner ER, Jinnah HA, Johns MM 3rd
J Voice 2018 Mar;32(2):234-238. Epub 2017 Jun 23 doi: 10.1016/j.jvoice.2017.05.004. PMID: 28651822Free PMC Article
Phase 2 of CATALISE: a multinational and multidisciplinary Delphi consensus study of problems with language development: Terminology.
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
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
Handedness, clumsiness and developmental language disorders.
Bishop DV
Neuropsychologia 1990;28(7):681-90. doi: 10.1016/0028-3932(90)90123-6. PMID: 2215879

Clinical prediction guides

Evaluation of a Telephone Version for the Montreal Cognitive Assessment: Establishing a Cutoff for Normative Data From a Cross-Sectional Study.
Klil-Drori S, Phillips N, Fernandez A, Solomon S, Klil-Drori AJ, Chertkow H
J Geriatr Psychiatry Neurol 2022 May;35(3):374-381. Epub 2021 Apr 16 doi: 10.1177/08919887211002640. PMID: 33858238
TRAS: Validity and sensitivity of a language assessment tool for children with ASD.
Hansén-Larson J, Bejnö H, Jägerskogh E, Eikeseth S, Klintwall L
Scand J Psychol 2021 Aug;62(4):522-528. Epub 2021 May 11 doi: 10.1111/sjop.12736. PMID: 33977525
Teaching Undergraduate Clinicians Empirically Supported Practices for Preschool Vocabulary Instruction.
Kelley ES, Hull G, Eubank A, Roettgen G
Lang Speech Hear Serv Sch 2020 Apr 7;51(2):353-370. Epub 2020 Feb 3 doi: 10.1044/2019_LSHSS-19-00061. PMID: 32013722
Neurocognitive and social-communicative function of children born very preterm at 10 years of age: Associations with microorganisms recovered from the placenta parenchyma.
Tomlinson MS, Santos HP, Stewart JR, Joseph R, Leviton A, Onderdonk AB, Kuban KCK, Heeren T, O'Shea TM, Fry RC; ELGAN Study Investigators
J Perinatol 2020 Feb;40(2):306-315. Epub 2019 Oct 17 doi: 10.1038/s41372-019-0505-8. PMID: 31624322Free PMC Article
Pharyngeal Dystonia Mimicking Spasmodic Dysphonia.
Shi LL, Simpson CB, Hapner ER, Jinnah HA, Johns MM 3rd
J Voice 2018 Mar;32(2):234-238. Epub 2017 Jun 23 doi: 10.1016/j.jvoice.2017.05.004. PMID: 28651822Free PMC Article

Recent systematic reviews

Cognitive stimulation and cognitive results in older adults: A systematic review and meta-analysis.
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
Prevalence and Correlates of Suicide and Nonsuicidal Self-injury in Children: A Systematic Review and Meta-analysis.
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
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
An evidence-based clinical guideline for the diagnosis and treatment of lumbar disc herniation with radiculopathy.
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

Supplemental Content

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