U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Childhood apraxia of speech(SPCH1)

MedGen UID:
152917
Concept ID:
C0750927
Mental or Behavioral Dysfunction
Synonyms: DEVELOPMENTAL VERBAL DYSPRAXIA; SPCH1; SPEECH AND LANGUAGE DISORDER WITH OROFACIAL DYSPRAXIA; Speech-language disorder 1
SNOMED CT: DVD - Developmental verbal apraxia (229703009); Developmental verbal dyspraxia (229703009)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): FOXP2 (7q31.1)
 
Monarch Initiative: MONDO:0011184
OMIM®: 602081
Orphanet: ORPHA209908

Disease characteristics

Excerpted from the GeneReview: FOXP2-Related Speech and Language Disorder
FOXP2-related speech and language disorder (FOXP2-SLD) is caused by heterozygous FOXP2 pathogenic variants (including whole- or partial-gene deletions). The core phenotype of FOXP2-SLD is childhood apraxia of speech (CAS), a disorder of speech motor programming or planning that affects the production, sequencing, timing, and stress of sounds, and the accurate sequencing of speech sounds into syllables and syllables into words. CAS also interferes nonselectively with multiple other aspects of language, including phonology, grammar, and literacy. Additional findings in FOXP2-SLD can include oral-motor dyspraxia (difficulty planning or programming oral movements on command); dysarthria; moderate-to-severe receptive and expressive language disorder; reading and spelling impairments; and fine motor difficulties. Nonverbal (performance) IQ is typically relatively preserved compared to verbal IQ; gross motor skills are normal. Autistic features or a diagnosis of autism spectrum disorder have been reported in some individuals. [from GeneReviews]
Authors:
Angela Morgan  |  Simon E Fisher  |  Ingrid Scheffer, et. al.   view full author information

Additional descriptions

From OMIM
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; see 606711) (Bartlett et al., 2002). See also familial developmental dysphasia (600117).  http://www.omim.org/entry/602081
From MedlinePlus Genetics
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 apraxia, 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 apraxia 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://medlineplus.gov/genetics/condition/foxp2-related-speech-and-language-disorder

Clinical features

From HPO
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.
Incomprehensible speech
MedGen UID:
333001
Concept ID:
C1838027
Finding
Oromotor apraxia
MedGen UID:
867468
Concept ID:
C4021845
Disease or Syndrome
Oral-motor apraxia is the inability to volitionally sequence oral movements of the speech structure for nonspeech tasks in the absence of neuromuscular deficits such as paralysis or muscle weakness. Oral-motor apraxia is diagnosed when, despite intact sensory motor function an individual is unable to use these effector systems under voluntary control.
Deficit in grammar
MedGen UID:
870509
Concept ID:
C4024956
Finding
Deficit in grammar, including syntax and morphology.
Abnormal basal ganglia morphology
MedGen UID:
1619147
Concept ID:
C4520981
Anatomical Abnormality
Abnormality of the basal ganglia.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChildhood apraxia of speech
Follow this link to review classifications for Childhood apraxia of speech in Orphanet.

Professional guidelines

PubMed

Dodd B
Folia Phoniatr Logop 2021;73(2):63-74. Epub 2020 Jan 15 doi: 10.1159/000505265. PMID: 31940655
Strand EA
Am J Speech Lang Pathol 2020 Feb 7;29(1):30-48. Epub 2019 Dec 17 doi: 10.1044/2019_AJSLP-19-0005. PMID: 31846588
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

Recent clinical studies

Etiology

Chenausky KV, Baas B, Stoeckel R, Brown T, Green JR, Runke C, Schimmenti L, Clark H
J Speech Lang Hear Res 2023 Mar 7;66(3):791-803. Epub 2023 Feb 16 doi: 10.1044/2022_JSLHR-22-00436. PMID: 36795544Free PMC Article
Bombonato C, Casalini C, Pecini C, Angelucci G, Vicari S, Podda I, Cipriani P, Chilosi AM, Menghini D
Res Dev Disabil 2022 Mar;122:104170. Epub 2022 Jan 11 doi: 10.1016/j.ridd.2021.104170. PMID: 35030467
Allison KM, Cordella C, Iuzzini-Seigel J, Green JR
J Speech Lang Hear Res 2020 Sep 15;63(9):2952-2994. Epub 2020 Aug 12 doi: 10.1044/2020_JSLHR-20-00061. PMID: 32783767Free PMC Article
Morgan AT, Murray E, Liégeois FJ
Cochrane Database Syst Rev 2018 May 30;5(5):CD006278. doi: 10.1002/14651858.CD006278.pub3. PMID: 29845607Free PMC Article
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

Diagnosis

Allison KM, Cordella C, Iuzzini-Seigel J, Green JR
J Speech Lang Hear Res 2020 Sep 15;63(9):2952-2994. Epub 2020 Aug 12 doi: 10.1044/2020_JSLHR-20-00061. PMID: 32783767Free PMC Article
Strand EA
Am J Speech Lang Pathol 2020 Feb 7;29(1):30-48. Epub 2019 Dec 17 doi: 10.1044/2019_AJSLP-19-0005. PMID: 31846588
Terband H, Namasivayam A, Maas E, van Brenk F, Mailend ML, Diepeveen S, van Lieshout P, Maassen B
J Speech Lang Hear Res 2019 Aug 29;62(8S):2999-3032. doi: 10.1044/2019_JSLHR-S-CSMC7-19-0214. PMID: 31465704
Morgan AT, Murray E, Liégeois FJ
Cochrane Database Syst Rev 2018 May 30;5(5):CD006278. doi: 10.1002/14651858.CD006278.pub3. PMID: 29845607Free PMC Article
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

Therapy

Bombonato C, Casalini C, Pecini C, Angelucci G, Vicari S, Podda I, Cipriani P, Chilosi AM, Menghini D
Res Dev Disabil 2022 Mar;122:104170. Epub 2022 Jan 11 doi: 10.1016/j.ridd.2021.104170. PMID: 35030467
Morgan AT, Murray E, Liégeois FJ
Cochrane Database Syst Rev 2018 May 30;5(5):CD006278. doi: 10.1002/14651858.CD006278.pub3. PMID: 29845607Free PMC Article
Kaipa R, Peterson AM
Int J Speech Lang Pathol 2016 Dec;18(6):507-520. Epub 2016 Mar 24 doi: 10.3109/17549507.2015.1126640. PMID: 27063688
Morgan AT, Vogel AP
Eur J Phys Rehabil Med 2009 Mar;45(1):103-10. PMID: 19156019
Morgan AT, Vogel AP
Cochrane Database Syst Rev 2008 Jul 16;(3):CD006278. doi: 10.1002/14651858.CD006278.pub2. PMID: 18646142

Prognosis

Abbiati CI, Velleman SL, Overby MS, Becerra AM, Mervis CB
Clin Linguist Phon 2023 Jun 3;37(4-6):330-344. Epub 2022 Jun 2 doi: 10.1080/02699206.2022.2080590. PMID: 35652603Free PMC Article
Beiting M
Lang Speech Hear Serv Sch 2022 Oct 6;53(4):947-968. Epub 2022 Apr 26 doi: 10.1044/2022_LSHSS-21-00162. PMID: 35472263
Randazzo M
Am J Speech Lang Pathol 2019 Nov 19;28(4):1659-1672. Epub 2019 Sep 5 doi: 10.1044/2019_AJSLP-19-0034. PMID: 31487474
Thomason A, Pankey E, Nutt B, Caffrey AR, Zarate YA
Clin Genet 2019 Dec;96(6):485-492. Epub 2019 Aug 12 doi: 10.1111/cge.13619. PMID: 31392730
Malmenholt A, Lohmander A, McAllister A
Logoped Phoniatr Vocol 2017 Jul;42(2):84-92. Epub 2016 May 31 doi: 10.1080/14015439.2016.1185147. PMID: 27241138

Clinical prediction guides

Beiting M
Lang Speech Hear Serv Sch 2022 Oct 6;53(4):947-968. Epub 2022 Apr 26 doi: 10.1044/2022_LSHSS-21-00162. PMID: 35472263
Cecilia Dos Santos Marques M, Griz S, Lira de Andrade KC, de Lemos Menezes P, Menezes DC
Int J Pediatr Otorhinolaryngol 2021 Jun;145:110742. Epub 2021 Apr 28 doi: 10.1016/j.ijporl.2021.110742. PMID: 33933988
Lenoci G, Celata C, Ricci I, Chilosi A, Barone V
Clin Linguist Phon 2021 Nov 2;35(11):1011-1035. Epub 2020 Dec 16 doi: 10.1080/02699206.2020.1853811. PMID: 33322970
Chenausky KV, Brignell A, Morgan A, Gagné D, Norton A, Tager-Flusberg H, Schlaug G, Shield A, Green JR
J Commun Disord 2020 Sep-Oct;87:106033. Epub 2020 Aug 18 doi: 10.1016/j.jcomdis.2020.106033. PMID: 32877838Free PMC Article
Morgan AT, Murray E, Liégeois FJ
Cochrane Database Syst Rev 2018 May 30;5(5):CD006278. doi: 10.1002/14651858.CD006278.pub3. PMID: 29845607Free PMC Article

Recent systematic reviews

van Tellingen M, Hurkmans J, Terband H, Jonkers R, Maassen B
Int J Speech Lang Pathol 2023 Aug;25(4):549-565. Epub 2022 Jul 28 doi: 10.1080/17549507.2022.2097310. PMID: 35900281
Morgan AT, Murray E, Liégeois FJ
Cochrane Database Syst Rev 2018 May 30;5(5):CD006278. doi: 10.1002/14651858.CD006278.pub3. PMID: 29845607Free PMC Article
Kaipa R, Peterson AM
Int J Speech Lang Pathol 2016 Dec;18(6):507-520. Epub 2016 Mar 24 doi: 10.3109/17549507.2015.1126640. PMID: 27063688
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
Morgan AT, Vogel AP
Cochrane Database Syst Rev 2008 Jul 16;(3):CD006278. doi: 10.1002/14651858.CD006278.pub2. PMID: 18646142

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...