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Speech-language disorder 1(SPCH1)

MedGen UID:
152917
Concept ID:
C0750927
Mental or Behavioral Dysfunction
Synonyms: CHILDHOOD APRAXIA OF SPEECH; DEVELOPMENTAL VERBAL DYSPRAXIA; FOXP2-Related Speech and Language Disorders; SPCH1; SPEECH AND LANGUAGE DISORDER WITH OROFACIAL DYSPRAXIA
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: DVD - Developmental verbal apraxia (229703009); Developmental verbal dyspraxia (229703009)
 
Gene (location): FOXP2 (7q31.1)
OMIM®: 602081
Orphanet: ORPHA209908

Definition

Speech-language disorder-1 is an autosomal dominant disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech. Affected individuals were originally thought to have specific defects in the use of grammatical suffixation rules (Gopnik, 1990; Gopnik and Crago, 1991). The phenotype, however, is broader in nature, with virtually every aspect of grammar and language affected (Fisher et al., 1998). Vargha-Khadem et al. (1998) concluded that the disorder is characterized by abnormal development of several brain areas critical for both orofacial movements and sequential articulation, resulting in marked disruption of speech and expressive language. Relation to Specific Language Impairment Children who fail to develop expressive and/or receptive language normally, in the absence of explanatory factors such as neurologic disorders, hearing impairment, or lack of adequate opportunity, are clinically described as having specific language impairment (SLI) (Bartlett et al., 2002). SLI has a prevalence of approximately 2% (Fisher et al., 1998) to 7% (Bartlett et al., 2002) in children entering school and is associated with later difficulties in learning to read. SLI aggregates in families, and increased monozygotic versus dizygotic twin concordance rates indicate that heredity, not just shared environment, is the cause of familial clustering (summary by Bartlett et al., 2002). The majority of families segregating such disorders show complex patterns of inheritance (Fisher et al., 1998). Quantitative trait loci (QTLs) involved in specific language impairment, a phenotype that shows some overlap with SPCH1, have been mapped to chromosomes 16q (SLI1; 606711), 19q (SLI2; 606712), 13q21 (SLI3; 607134), and 7q35-q36 (SLI4; 612514). See also familial developmental dysphasia (600117). [from OMIM]

Additional description

From GHR
FOXP2-related speech and language disorder is a condition that affects the development of speech and language starting in early childhood. Affected individuals have a speech problem known as childhood apraxia of speech, which makes it difficult to produce sequences of sounds, syllables, and words. This condition results from abnormalities involving parts of the brain that plan and coordinate movements of the lips, mouth, and tongue. Children with childhood apraxia of speech typically say their first words later than other children. Their speech is often difficult to understand, although the clarity of speech improves somewhat over time. Some affected individuals also cannot cough, sneeze, or clear their throats.In addition to having problems with producing speech (expressive language), people with FOXP2-related speech and language disorder may have difficulty with understanding speech (receptive language). Some also have trouble with other language-related skills, such as reading, writing, spelling, and grammar. In some affected individuals, problems with speech and language are the only features of the condition. Others also have delayed development in other areas, including motor skills such as walking and tying shoelaces, and autism spectrum disorders, which are conditions characterized by impaired communication and social interaction.  https://ghr.nlm.nih.gov/condition/foxp2-related-speech-and-language-disorder

Clinical features

Abnormality of the basal ganglia
MedGen UID:
14035
Concept ID:
C0004782
Disease or Syndrome
Abnormality of the basal ganglia.
facial dysmorphism
MedGen UID:
120588
Concept ID:
C0266617
Congenital Abnormality
An abnormal morphology (form) of the face or its components.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpeech-language disorder 1
Follow this link to review classifications for Speech-language disorder 1 in Orphanet.

Recent clinical studies

Etiology

Varley R, Cowell PE, Dyson L, Inglis L, Roper A, Whiteside SP
Stroke 2016 Mar;47(3):822-8. Epub 2016 Jan 21 doi: 10.1161/STROKEAHA.115.011939. PMID: 26797664
Jarry C, Osiurak F, Besnard J, Baumard J, Lesourd M, Croisile B, Etcharry-Bouyx F, Chauviré V, Le Gall D
J Neuropsychol 2016 Mar;10(1):154-9. Epub 2016 Jan 13 doi: 10.1111/jnp.12097. PMID: 26765078
Chilosi AM, Lorenzini I, Fiori S, Graziosi V, Rossi G, Pasquariello R, Cipriani P, Cioni G
Brain Lang 2015 Nov;150:177-85. Epub 2015 Nov 6 doi: 10.1016/j.bandl.2015.10.002. PMID: 26552038
Smits LL, Flapper M, Sistermans N, Pijnenburg YA, Scheltens P, van der Flier WM
Dement Geriatr Cogn Disord 2014;38(1-2):55-64. Epub 2014 Mar 1 doi: 10.1159/000358168. PMID: 24603451
Mariën P, Vidts A, Van Hecke W, De Surgeloose D, De Belder F, Parizel PM, Engelborghs S, De Deyn PP, Verhoeven J
Cerebellum 2013 Apr;12(2):277-89. doi: 10.1007/s12311-012-0420-4. PMID: 23065651

Diagnosis

Varley R, Cowell PE, Dyson L, Inglis L, Roper A, Whiteside SP
Stroke 2016 Mar;47(3):822-8. Epub 2016 Jan 21 doi: 10.1161/STROKEAHA.115.011939. PMID: 26797664
Weiss PH, Ubben SD, Kaesberg S, Kalbe E, Kessler J, Liebig T, Fink GR
Brain Struct Funct 2016 Jan;221(1):563-76. Epub 2014 Oct 29 doi: 10.1007/s00429-014-0925-3. PMID: 25352157
Chilosi AM, Lorenzini I, Fiori S, Graziosi V, Rossi G, Pasquariello R, Cipriani P, Cioni G
Brain Lang 2015 Nov;150:177-85. Epub 2015 Nov 6 doi: 10.1016/j.bandl.2015.10.002. PMID: 26552038
Smits LL, Flapper M, Sistermans N, Pijnenburg YA, Scheltens P, van der Flier WM
Dement Geriatr Cogn Disord 2014;38(1-2):55-64. Epub 2014 Mar 1 doi: 10.1159/000358168. PMID: 24603451
Cera ML, Ortiz KZ, Bertolucci PH, Minett TS
Int Psychogeriatr 2013 Oct;25(10):1679-85. Epub 2013 Jun 7 doi: 10.1017/S1041610213000781. PMID: 23742823Free PMC Article

Therapy

Varley R, Cowell PE, Dyson L, Inglis L, Roper A, Whiteside SP
Stroke 2016 Mar;47(3):822-8. Epub 2016 Jan 21 doi: 10.1161/STROKEAHA.115.011939. PMID: 26797664
Pérez-Mármol JM, García-Ríos MC, Barrero-Hernandez FJ, Molina-Torres G, Brown T, Aguilar-Ferrándiz ME
Trials 2015 Nov 5;16:508. doi: 10.1186/s13063-015-1034-1. PMID: 26542104Free PMC Article
Tirelli G, Tomietto P, Quatela E, Perrino F, Nicastro L, Cattin L, Carretta R
Am J Otolaryngol 2015 Jul-Aug;36(4):590-7. Epub 2015 Mar 3 doi: 10.1016/j.amjoto.2015.02.013. PMID: 25841536
Perez-Marmol JM, Lopez-Alcalde S, Carnero-Pardo C, Canadas-De la Fuente GA, Peralta-Ramirez MI, Garcia-Rios MC
Rev Neurol 2015 Jan 16;60(2):66-74. PMID: 25583589
Sawada J, Orimoto R, Misu T, Katayama T, Aizawa H, Asanome A, Takahashi K, Saito T, Anei R, Kamada K, Miyokawa N, Takahashi T, Fujihara K, Hasebe N
Mult Scler 2014 Sep;20(10):1413-6. Epub 2014 Jul 1 doi: 10.1177/1352458514540834. PMID: 24986696

Prognosis

Polanowska KE, Pietrzyk-Krawczyk I
Neurol Neurochir Pol 2016 Nov - Dec;50(6):497-503. Epub 2016 Aug 23 doi: 10.1016/j.pjnns.2016.08.005. PMID: 27591108
Jarry C, Osiurak F, Besnard J, Baumard J, Lesourd M, Croisile B, Etcharry-Bouyx F, Chauviré V, Le Gall D
J Neuropsychol 2016 Mar;10(1):154-9. Epub 2016 Jan 13 doi: 10.1111/jnp.12097. PMID: 26765078
Weiss PH, Ubben SD, Kaesberg S, Kalbe E, Kessler J, Liebig T, Fink GR
Brain Struct Funct 2016 Jan;221(1):563-76. Epub 2014 Oct 29 doi: 10.1007/s00429-014-0925-3. PMID: 25352157
Schiffman J, Mittal V, Kline E, Mortensen EL, Michelsen N, Ekstrøm M, Millman ZB, Mednick SA, Sørensen HJ
Dev Psychopathol 2015 Nov;27(4 Pt 1):1323-30. doi: 10.1017/S0954579414001436. PMID: 26439077
Jung Y, Duffy JR, Josephs KA
Semin Neurol 2013 Sep;33(4):342-7. Epub 2013 Nov 14 doi: 10.1055/s-0033-1359317. PMID: 24234355Free PMC Article

Clinical prediction guides

Polanowska KE, Pietrzyk-Krawczyk I
Neurol Neurochir Pol 2016 Nov - Dec;50(6):497-503. Epub 2016 Aug 23 doi: 10.1016/j.pjnns.2016.08.005. PMID: 27591108
Jarry C, Osiurak F, Besnard J, Baumard J, Lesourd M, Croisile B, Etcharry-Bouyx F, Chauviré V, Le Gall D
J Neuropsychol 2016 Mar;10(1):154-9. Epub 2016 Jan 13 doi: 10.1111/jnp.12097. PMID: 26765078
Weiss PH, Ubben SD, Kaesberg S, Kalbe E, Kessler J, Liebig T, Fink GR
Brain Struct Funct 2016 Jan;221(1):563-76. Epub 2014 Oct 29 doi: 10.1007/s00429-014-0925-3. PMID: 25352157
Smits LL, Flapper M, Sistermans N, Pijnenburg YA, Scheltens P, van der Flier WM
Dement Geriatr Cogn Disord 2014;38(1-2):55-64. Epub 2014 Mar 1 doi: 10.1159/000358168. PMID: 24603451
Cera ML, Ortiz KZ, Bertolucci PH, Minett TS
Int Psychogeriatr 2013 Oct;25(10):1679-85. Epub 2013 Jun 7 doi: 10.1017/S1041610213000781. PMID: 23742823Free PMC Article

Recent systematic reviews

Gubiani MB, Pagliarin KC, Keske-Soares M
Codas 2015 Nov-Dec;27(6):610-5. doi: 10.1590/2317-1782/20152014152. PMID: 26691627
Bailey DJ, Eatchel K, Wambaugh J
Am J Speech Lang Pathol 2015 Nov;24(4):S798-814. doi: 10.1044/2015_AJSLP-14-0127. PMID: 26133692
Coleman JJ, Frymark T, Franceschini NM, Theodoros DG
Am J Speech Lang Pathol 2015 May;24(2):295-315. doi: 10.1044/2015_AJSLP-14-0028. PMID: 25836020
Murray E, McCabe P, Ballard KJ
Am J Speech Lang Pathol 2014 Aug;23(3):486-504. doi: 10.1044/2014_AJSLP-13-0035. PMID: 24686844
Dovern A, Fink GR, Weiss PH
J Neurol 2012 Jul;259(7):1269-83. Epub 2012 Jan 4 doi: 10.1007/s00415-011-6336-y. PMID: 22215235Free PMC Article

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