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Oromotor apraxia

MedGen UID:
867468
Concept ID:
C4021845
Disease or Syndrome
Synonym: Oral-motor apraxia
 
HPO: HP:0007301

Definition

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. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOromotor apraxia

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.
Intellectual disability, autosomal dominant 56
MedGen UID:
1638835
Concept ID:
C4693389
Mental or Behavioral Dysfunction

Professional guidelines

PubMed

Mackenzie C, Muir M, Allen C
Int J Lang Commun Disord 2010 Nov-Dec;45(6):617-29. doi: 10.3109/13682820903470577. PMID: 20085536

Recent clinical studies

Etiology

Pal DK, Li W, Clarke T, Lieberman P, Strug LJ
Genes Brain Behav 2010 Nov;9(8):1004-12. Epub 2010 Oct 18 doi: 10.1111/j.1601-183X.2010.00648.x. PMID: 20825490
Bellinger DC, Wypij D, Kuban KC, Rappaport LA, Hickey PR, Wernovsky G, Jonas RA, Newburger JW
Circulation 1999 Aug 3;100(5):526-32. doi: 10.1161/01.cir.100.5.526. PMID: 10430767

Diagnosis

Raca G, Baas BS, Kirmani S, Laffin JJ, Jackson CA, Strand EA, Jakielski KJ, Shriberg LD
Eur J Hum Genet 2013 Apr;21(4):455-9. Epub 2012 Aug 22 doi: 10.1038/ejhg.2012.165. PMID: 22909774Free PMC Article
Kugler SL, Bali B, Lieberman P, Strug L, Gagnon B, Murphy PL, Clarke T, Greenberg DA, Pal DK
Epilepsia 2008 Jun;49(6):1086-90. Epub 2008 Jan 31 doi: 10.1111/j.1528-1167.2007.01517.x. PMID: 18248446Free PMC Article
Deonna TW, Roulet E, Fontan D, Marcoz JP
Neuropediatrics 1993 Apr;24(2):83-7. doi: 10.1055/s-2008-1071519. PMID: 7687041

Therapy

Bellinger DC, Wypij D, Kuban KC, Rappaport LA, Hickey PR, Wernovsky G, Jonas RA, Newburger JW
Circulation 1999 Aug 3;100(5):526-32. doi: 10.1161/01.cir.100.5.526. PMID: 10430767
Awaad Y, Munoz S, Nigro M
J Child Neurol 1999 Feb;14(2):75-7. doi: 10.1177/088307389901400202. PMID: 10073426

Clinical prediction guides

Raca G, Baas BS, Kirmani S, Laffin JJ, Jackson CA, Strand EA, Jakielski KJ, Shriberg LD
Eur J Hum Genet 2013 Apr;21(4):455-9. Epub 2012 Aug 22 doi: 10.1038/ejhg.2012.165. PMID: 22909774Free PMC Article
Pal DK, Li W, Clarke T, Lieberman P, Strug LJ
Genes Brain Behav 2010 Nov;9(8):1004-12. Epub 2010 Oct 18 doi: 10.1111/j.1601-183X.2010.00648.x. PMID: 20825490
Bellinger DC, Wypij D, Kuban KC, Rappaport LA, Hickey PR, Wernovsky G, Jonas RA, Newburger JW
Circulation 1999 Aug 3;100(5):526-32. doi: 10.1161/01.cir.100.5.526. PMID: 10430767

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