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Deficit in grammar

MedGen UID:
870509
Concept ID:
C4024956
Finding
Synonym: Grammar-specific speech disorder
 
HPO: HP:0006977

Definition

Deficit in grammar, including syntax and morphology. [from HPO]

Term Hierarchy

Conditions with this feature

Childhood apraxia of speech
MedGen UID:
152917
Concept ID:
C0750927
Mental or Behavioral Dysfunction
All FOXP2-related speech and language disorders, regardless of the underlying genetic alteration, have a core phenotype: childhood apraxia of speech (CAS), a disorder of speech motor programming or planning that affects the production, sequencing, timing, and stress of sounds, syllables, and words. All individuals with CAS – whether caused by an alteration of FOXP2 or of an unknown cause – have difficulties in automatically and accurately sequencing speech sounds into syllables, syllables into words, and words into sentences with the correct prosody. Additional findings in FOXP2-related speech and language disorders can include oral motor dyspraxia (difficulty planning or programming oral movements on command); dysarthria (a neuromuscular-based speech disorder that may affect nasal resonance, voice quality, prosody, and breath support for speech); moderate to severe receptive and expressive language disorder; and reading and spelling impairments. The underlying genetic cause of FOXP2-related speech and language disorders is either disruption of FOXP2 only (referred to in this GeneReview as FOXP2-only-related speech and language disorder) or large copy number variants (i.e., contiguous gene deletions), structural variants (i.e., chromosome translocation or inversion), or maternal uniparental disomy of chromosome 7 (UPD7) involving FOXP2 (here referred to as FOXP2-plus-related speech and language disorders). The genetic alteration determines if only speech and language problems are present (FOXP2-only-related speech and language disorder) or if more global developmental and behavioral issues are likely to be present as well (FOXP2-plus-related speech and language disorder). In FOXP2-only-related disorders, nonverbal (performance) IQ is typically more preserved compared to verbal IQ. Fine motor skills may be impaired (e.g., buttoning clothes, tying shoelaces), yet gross motor skills are normal. Autistic features and dysmorphic findings have been reported in a few affected individuals. In FOXP2-plus-related disorders oral motor deficits, global developmental delay, and autism spectrum disorder are common.

Professional guidelines

PubMed

Chung WK, Herrera FF; Simon's Searchlight Foundation
Cold Spring Harb Mol Case Stud 2023 Dec;9(4) Epub 2024 Jan 10 doi: 10.1101/mcs.a006316. PMID: 38050025Free PMC Article
Leonard LB, Deevy P
Am J Speech Lang Pathol 2017 Aug 15;26(3):1030-1041. doi: 10.1044/2017_AJSLP-16-0095. PMID: 28586829Free PMC Article
Rabinovici GD, Miller BL
CNS Drugs 2010 May;24(5):375-98. doi: 10.2165/11533100-000000000-00000. PMID: 20369906Free PMC Article

Recent clinical studies

Etiology

Walker EA, Harrison M, Baumann R, Moeller MP, Sorensen E, Oleson JJ, McCreery RW
J Speech Lang Hear Res 2023 Sep 13;66(9):3550-3573. Epub 2023 Aug 17 doi: 10.1044/2023_JSLHR-23-00084. PMID: 37591235Free PMC Article
Samra K, MacDougall AM, Bouzigues A, Bocchetta M, Cash DM, Greaves CV, Convery RS, van Swieten JC, Jiskoot L, Seelaar H, Moreno F, Sanchez-Valle R, Laforce R, Graff C, Masellis M, Tartaglia MC, Rowe JB, Borroni B, Finger E, Synofzik M, Galimberti D, Vandenberghe R, de Mendonça A, Butler CR, Gerhard A, Ducharme S, Le Ber I, Tiraboschi P, Santana I, Pasquier F, Levin J, Otto M, Sorbi S, Rohrer JD, Russell LL; Genetic FTD Initiative (GENFI)
J Neurol Sci 2023 Aug 15;451:120711. Epub 2023 Jun 10 doi: 10.1016/j.jns.2023.120711. PMID: 37348248
Calet N, Martín-Peregrina MÁ, Jiménez-Fernández G, Martínez-Castilla P
Int J Lang Commun Disord 2021 Jul;56(4):784-796. Epub 2021 May 18 doi: 10.1111/1460-6984.12627. PMID: 34003546
Cope TE, Wilson B, Robson H, Drinkall R, Dean L, Grube M, Jones PS, Patterson K, Griffiths TD, Rowe JB, Petkov CI
Neuropsychologia 2017 Sep;104:201-213. Epub 2017 Aug 24 doi: 10.1016/j.neuropsychologia.2017.08.022. PMID: 28843341Free PMC Article
Gordon RL, Jacobs MS, Schuele CM, McAuley JD
Ann N Y Acad Sci 2015 Mar;1337:16-25. doi: 10.1111/nyas.12683. PMID: 25773612Free PMC Article

Diagnosis

Walker EA, Harrison M, Baumann R, Moeller MP, Sorensen E, Oleson JJ, McCreery RW
J Speech Lang Hear Res 2023 Sep 13;66(9):3550-3573. Epub 2023 Aug 17 doi: 10.1044/2023_JSLHR-23-00084. PMID: 37591235Free PMC Article
Geraudie A, Battista P, García AM, Allen IE, Miller ZA, Gorno-Tempini ML, Montembeault M
Neurosci Biobehav Rev 2021 Dec;131:1076-1095. Epub 2021 Oct 19 doi: 10.1016/j.neubiorev.2021.10.015. PMID: 34673112
Calet N, Martín-Peregrina MÁ, Jiménez-Fernández G, Martínez-Castilla P
Int J Lang Commun Disord 2021 Jul;56(4):784-796. Epub 2021 May 18 doi: 10.1111/1460-6984.12627. PMID: 34003546
Starowicz-Filip A, Chrobak AA, Moskała M, Krzyżewski RM, Kwinta B, Kwiatkowski S, Milczarek O, Rajtar-Zembaty A, Przewoźnik D
Psychiatr Pol 2017 Aug 29;51(4):661-671. doi: 10.12740/PP/68547. PMID: 28987056
Rudov A, Rocchi MB, Accorsi A, Spada G, Procopio AD, Olivieri F, Rippo MR, Albertini MC
Epigenetics 2013 Oct;8(10):1023-9. Epub 2013 Aug 15 doi: 10.4161/epi.26026. PMID: 23949389Free PMC Article

Therapy

Choinski M, Stanczyk M, Szymaszek A
Sci Rep 2023 Aug 28;13(1):14053. doi: 10.1038/s41598-023-41045-0. PMID: 37640772Free PMC Article
van Witteloostuijn M, Boersma P, Wijnen F, Rispens J
Res Dev Disabil 2017 Nov;70:126-137. Epub 2017 Sep 18 doi: 10.1016/j.ridd.2017.09.006. PMID: 28934698
Połczyńska M, Japardi K, Curtiss S, Moody T, Benjamin C, Cho A, Vigil C, Kuhn T, Jones M, Bookheimer S
Neuroimage Clin 2017;15:415-427. Epub 2017 May 26 doi: 10.1016/j.nicl.2017.05.021. PMID: 28616382Free PMC Article
Lê K, Coelho C, Mozeiko J, Grafman J
J Speech Lang Hear Res 2011 Feb;54(1):118-26. Epub 2010 Aug 18 doi: 10.1044/1092-4388(2010/09-0022). PMID: 20719868
Horan WP, Green MF, Knowlton BJ, Wynn JK, Mintz J, Nuechterlein KH
Neuropsychology 2008 Sep;22(5):606-17. doi: 10.1037/a0012602. PMID: 18763880Free PMC Article

Prognosis

Gerken L, Plante E, Goffman L
J Speech Lang Hear Res 2021 Mar 17;64(3):922-934. Epub 2021 Feb 16 doi: 10.1044/2020_JSLHR-20-00548. PMID: 33592156Free PMC Article
Martínez-Ferreiro S, Ishkhanyan B, Rosell-Clarí V, Boye K
Clin Linguist Phon 2019;33(6):497-517. Epub 2018 Dec 11 doi: 10.1080/02699206.2018.1551935. PMID: 30526143
Gordon RL, Jacobs MS, Schuele CM, McAuley JD
Ann N Y Acad Sci 2015 Mar;1337:16-25. doi: 10.1111/nyas.12683. PMID: 25773612Free PMC Article
Mesulam MM, Rogalski EJ, Wieneke C, Hurley RS, Geula C, Bigio EH, Thompson CK, Weintraub S
Nat Rev Neurol 2014 Oct;10(10):554-69. Epub 2014 Sep 2 doi: 10.1038/nrneurol.2014.159. PMID: 25179257Free PMC Article
Rabinovici GD, Miller BL
CNS Drugs 2010 May;24(5):375-98. doi: 10.2165/11533100-000000000-00000. PMID: 20369906Free PMC Article

Clinical prediction guides

Połczyńska M, Japardi K, Curtiss S, Moody T, Benjamin C, Cho A, Vigil C, Kuhn T, Jones M, Bookheimer S
Neuroimage Clin 2017;15:415-427. Epub 2017 May 26 doi: 10.1016/j.nicl.2017.05.021. PMID: 28616382Free PMC Article
Gordon RL, Jacobs MS, Schuele CM, McAuley JD
Ann N Y Acad Sci 2015 Mar;1337:16-25. doi: 10.1111/nyas.12683. PMID: 25773612Free PMC Article
Rabinovici GD, Miller BL
CNS Drugs 2010 May;24(5):375-98. doi: 10.2165/11533100-000000000-00000. PMID: 20369906Free PMC Article
Ramus F, Szenkovits G
Q J Exp Psychol (Hove) 2008 Jan;61(1):129-41. doi: 10.1080/17470210701508822. PMID: 18038344
Kruger J, Dunning D
J Pers Soc Psychol 1999 Dec;77(6):1121-34. doi: 10.1037//0022-3514.77.6.1121. PMID: 10626367

Recent systematic reviews

Geraudie A, Battista P, García AM, Allen IE, Miller ZA, Gorno-Tempini ML, Montembeault M
Neurosci Biobehav Rev 2021 Dec;131:1076-1095. Epub 2021 Oct 19 doi: 10.1016/j.neubiorev.2021.10.015. PMID: 34673112

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