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Developmental verbal dyspraxia

Developmental verbal dyspraxia (DVD), also known as childhood apraxia of speech (CAS) and developmental apraxia of speech (DAS),[1] is a condition in which an individual has problems saying sounds, syllables and words. This is not because of muscle weakness or paralysis. The brain has problems planning to move the body parts (e.g., lips, jaw, tongue) needed for speech. The individual knows what they want to say, but their brain has difficulty coordinating the muscle movements necessary to say those words.[2]

Developmental verbal dyspraxia
Other namesSpeech and language disorder with orofacial dyspraxia

The exact cause of this disorder is usually unknown.[1] Many observations suggest a genetic cause of DVD, as many with the disorder have a family history of communication disorders.[1][3][4][5] The gene FOXP2 has been implicated in many studies of the condition, and when this is the cause, the condition is inherited in an autosomal dominant manner, however roughly 75% of these cases are de novo.[6]

There is no cure for DVD, but with appropriate, intensive intervention, people with this motor speech disorder can improve significantly.[7]

Presentation

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"Childhood apraxia of speech (CAS) is a neurological childhood (pediatric) speech sound disorder in which the precision and consistency of movements underlying speech are impaired in the absence of neuromuscular deficits (e.g., abnormal reflexes, abnormal tone). CAS may occur as a result of known neurological impairment, in association with complex neurobehavioral disorders of known or unknown origin, or as an idiopathic neurogenic speech sound disorder. The core impairment in planning and/or programming spatiotemporal parameters of movement sequences results in errors in speech sound production and prosody." American Speech-Language-Hearing Association (ASHA) Ad Hoc Committee on Apraxia of Speech in Children (2007)[7]

There are three significant features that differentiate DVD/CAS from other childhood speech sound disorders. These features are:

  • "Inconsistent errors on consonants and vowels in repeated productions of syllables and words
  • Lengthened coarticulatory transitions between sounds and syllables
  • Inappropriate prosody, especially in the realization of lexical or phrasal stress"[7]

Even though DVD/CAS is a developmental disorder, it will not simply disappear when children grow older. Children with this disorder do not follow typical patterns of language acquisition and will need treatment in order to make progress.[7]

Causes

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DVD/CAS is a motor disorder, which means that the problem is located in the brain and its signals, and not in the mouth.[8] In most cases, the cause is unknown. Possible causes include genetic syndromes and disorders.[8]

Recent research has focused on the significance of the FOXP2 gene[9][10][11][12][13] in both species and individual development.[14] Research regarding the KE family, where half the members of the extended family, over three generations, exhibited heritable developmental verbal dyspraxia, were found to have a defective copy of the FOXP2 gene.[4][15] and further studies suggest that the FOXP2 gene as well as other genetic issues could explain DVD/CAS.[9][16] including 16p11.2 microdeletion syndrome.[17][18]

New research suggests a role for the sodium channel SCN3A in the development of the perisylvian areas, which maintain key language circuits- Broca and Wernicke Area.[19] Patients with mutations in SCN3A had oral-motor speech disorders.[19]

Birth/prenatal injuries, as well as stroke, can also be causes of DVD/CAS. Furthermore, DVD/CAS can occur as a secondary characteristic to a variety of other conditions. These include autism,[1] some forms of epilepsy,[1] fragile X syndrome, galactosemia[1][20] and chromosome translocations[14][21] involving duplications or deletions.[16][22]

Diagnosis

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Developmental verbal dyspraxia can be diagnosed by a speech–language pathologist (SLP) through specific exams that measure oral mechanisms of speech. The oral mechanisms exam involves tasks such as pursing lips, blowing, licking lips, elevating the tongue, and also involves an examination of the mouth. A complete exam also involves observation of the patient eating and talking. Tests such as the Kaufman Speech Praxis test,[23] a more formal examination, are also used in diagnosis.[23] A differential diagnosis of DVD/CAS is often not possible for children under the age of two years old. Even when children are between 2–3 years, a clear diagnosis cannot always occur, because at this age, they may still be unable to focus on, or cooperate with, diagnostic testing.[24]

Management

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There is no cure for DVD/CAS, but with appropriate, intensive intervention, people with the disorder can improve significantly.[7]

DVD/CAS requires various forms of therapy which varies with the individual needs of the patient. Typically, treatment involves one-on-one therapy with a speech–language pathologist (SLP).[8] In children with DVD/CAS, consistency is a key element in treatment. Consistency in the form of communication, as well as the development and use of oral communication are extremely important in aiding a child's speech learning process.[citation needed]

Many therapy approaches are not supported by thorough evidence; however, the aspects of treatment that do seem to be agreed upon are the following:

Although these aspects of treatment are supported by much clinical documentation, they lack evidence from systematic research studies. In ASHA's position statement on DVD/CAS,[7] ASHA states there is a critical need for collaborative, interdisciplinary, and programmatic research on the neural substrates, behavioral correlates, and treatment options for DVD/CAS.

Integral stimulation

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One technique that is frequently used to treat DVD/CAS is integral stimulation. Integral stimulation is based on cognitive motor learning, focusing on the cognitive motor planning needed for the complex motor task of speech. It is often referred to as the "watch me, listen, do as I do" approach and is founded on a multi-step hierarchy of strategies for treatment. This hierarchy of strategies allows the clinician to alter treatment depending upon the needs of the child. It uses various modalities of presentation, emphasizing the auditory and visual modes. Experts suggest that extensive practice and experience with the new material is key, so hundreds of target stimuli should be elicited in a single session. Furthermore, distributed (shorter, but more frequent) and random treatment, which mix target and non-target utterances, produces greater overall learning.[citation needed]

The six steps of the hierarchy upon which integral stimulation therapy for children is loosely organized are:

  • "The child watches and listens and simultaneously produces the stimulus with the clinician.
  • The clinician models, then the child repeats the stimulus while the clinician simultaneously mouths it.
  • The clinician models and provides cues and the child repeats.
  • The clinician models and the child repeats with no cues provided.
  • The clinician elicits the stimulus without modeling, such as by asking a question, with the child responding spontaneously.
  • The child produces stimuli in less-directed situations with clinician encouragement, such as in role-play or games".

Integrated phonological approach

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Another treatment strategy that has been shown to have positive effects is an integrated phonological approach. This approach "incorporates targeted speech production practice into phonological awareness activities and uses letters and phonological cues to prompt speech production".[26] McNeill, Gillon, & Dodd studied 12 children ages 4–7 with DVD/CAS who were treated with this approach two times a week for two six-week blocks of time (separated by a six-week withdrawal block). They found positive effects for most of the children in the areas of speech production, phonological awareness, word decoding, letter knowledge, and spelling. These results show that it is clinically productive to target speech production, phonological awareness, letter knowledge, spelling, and reading all at once. This is particularly important since children with DVD/CAS often have continuous problems with reading and spelling, even if their production of speech improves.[26]

See also

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References

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  1. ^ a b c d e f Morgan AT, Vogel AP (March 2009). "A Cochrane review of treatment for childhood apraxia of speech". European Journal of Physical and Rehabilitation Medicine. 45 (1): 103–10. PMID 19156019.
  2. ^ "Childhood Apraxia of Speech" (web page). American Speech-Language-Hearing Association (ASHA) (2014).
  3. ^ Vargha-Khadem F, Watkins K, Alcock K, Fletcher P, Passingham R (January 1995). "Praxic and nonverbal cognitive deficits in a large family with a genetically transmitted speech and language disorder". Proceedings of the National Academy of Sciences of the United States of America. 92 (3): 930–3. Bibcode:1995PNAS...92..930V. doi:10.1073/pnas.92.3.930. PMC 42734. PMID 7846081.
  4. ^ a b Watkins KE, Gadian DG, Vargha-Khadem F (November 1999). "Functional and structural brain abnormalities associated with a genetic disorder of speech and language". American Journal of Human Genetics. 65 (5): 1215–21. doi:10.1086/302631. PMC 1288272. PMID 10521285.
  5. ^ Newbury DF, Monaco AP (October 2010). "Genetic advances in the study of speech and language disorders". Neuron. 68 (2): 309–20. doi:10.1016/j.neuron.2010.10.001. PMC 2977079. PMID 20955937.
  6. ^ Morgan, Angela; Fisher, Simon E.; Scheffer, Ingrid; Hildebrand, Michael (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "FOXP2-Related Speech and Language Disorders", GeneReviews®, University of Washington, Seattle, PMID 27336128, retrieved 2019-05-16
  7. ^ a b c d e f g Dauer K, Irwin S, Schippits S (August 1996). Becoming Verbal and Intelligible: A Functional Motor Programming Approach for Children with Developmental Verbal Apraxia. Harcourt Publishers Ltd. ISBN 978-0761631729.
  8. ^ a b c "Childhood Apraxia of Speech". American Speech-Language-Hearing Association (ASHA). Retrieved 7 October 2013.
  9. ^ a b Bacon C, Rappold GA (November 2012). "The distinct and overlapping phenotypic spectra of FOXP1 and FOXP2 in cognitive disorders". Human Genetics. 131 (11): 1687–98. doi:10.1007/s00439-012-1193-z. PMC 3470686. PMID 22736078.
  10. ^ Vernes SC, MacDermot KD, Monaco AP, Fisher SE (October 2009). "Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia". European Journal of Human Genetics. 17 (10): 1354–8. doi:10.1038/ejhg.2009.43. PMC 2784575. PMID 19352412.
  11. ^ Kang C, Drayna D (2011). "Genetics of speech and language disorders". Annual Review of Genomics and Human Genetics. 12: 145–64. doi:10.1146/annurev-genom-090810-183119. PMID 21663442.
  12. ^ MacDermot KD, Bonora E, Sykes N, Coupe AM, Lai CS, Vernes SC, Vargha-Khadem F, McKenzie F, Smith RL, Monaco AP, Fisher SE (June 2005). "Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits". American Journal of Human Genetics. 76 (6): 1074–80. doi:10.1086/430841. PMC 1196445. PMID 15877281.
  13. ^ Preuss TM (June 2012). "Human brain evolution: from gene discovery to phenotype discovery". Proceedings of the National Academy of Sciences of the United States of America. 109 (Suppl 1): 10709–16. Bibcode:2012PNAS..10910709P. doi:10.1073/pnas.1201894109. PMC 3386880. PMID 22723367.
  14. ^ a b White, Stephanie A.; Fisher, Simon E.; Geschwind, Daniel H.; Scharff, Constance; Holy, Timothy E. (11 October 2006). "Singing Mice, Songbirds, and More: Models for FOXP2 Function and Dysfunction in Human Speech and Language". Journal of Neuroscience. 26 (41): 10376–10379. doi:10.1523/JNEUROSCI.3379-06.2006. hdl:11858/00-001M-0000-0012-CB1F-7. ISSN 0270-6474. PMC 2683917. PMID 17035521.
  15. ^ Vargha-Khadem F, Gadian DG, Copp A, Mishkin M (February 2005). "FOXP2 and the neuroanatomy of speech and language" (PDF). Nature Reviews. Neuroscience. 6 (2): 131–8. doi:10.1038/nrn1605. PMID 15685218. S2CID 2504002. Archived from the original (PDF) on 2020-03-09. Retrieved 2013-11-27.
  16. ^ a b Newbury DF, Mari F, Sadighi Akha E, Macdermot KD, Canitano R, Monaco AP, Taylor JC, Renieri A, Fisher SE, Knight SJ (April 2013). "Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder". European Journal of Human Genetics. 21 (4): 361–5. doi:10.1038/ejhg.2012.166. PMC 3598310. PMID 22909776.
  17. ^ Raca G, Baas BS, Kirmani S, Laffin JJ, Jackson CA, Strand EA, Jakielski KJ, Shriberg LD (April 2013). "Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome". European Journal of Human Genetics. 21 (4): 455–9. doi:10.1038/ejhg.2012.165. PMC 3598318. PMID 22909774.
  18. ^ Worthey EA, Raca G, Laffin JJ, Wilk BM, Harris JM, Jakielski KJ, Dimmock DP, Strand EA, Shriberg LD (October 2013). "Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech". Journal of Neurodevelopmental Disorders. 5 (1): 29. doi:10.1186/1866-1955-5-29. PMC 3851280. PMID 24083349.
  19. ^ a b Smith RS, Kenny CJ, Ganesh V, Jang A, Borges-Monroy R, Partlow JN, et al. (September 2018). "V1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development". Neuron. 99 (5): 905–913.e7. doi:10.1016/j.neuron.2018.07.052. PMC 6226006. PMID 30146301.
  20. ^ Shriberg LD, Potter NL, Strand EA (April 2011). "Prevalence and phenotype of childhood apraxia of speech in youth with galactosemia". Journal of Speech, Language, and Hearing Research. 54 (2): 487–519. doi:10.1044/1092-4388(2010/10-0068). PMC 3070858. PMID 20966389.
  21. ^ Shriberg LD, Ballard KJ, Tomblin JB, Duffy JR, Odell KH, Williams CA (June 2006). "Speech, prosody, and voice characteristics of a mother and daughter with a 7;13 translocation affecting FOXP2". Journal of Speech, Language, and Hearing Research. 49 (3): 500–25. doi:10.1044/1092-4388(2006/038). PMID 16787893.
  22. ^ Lennon PA, Cooper ML, Peiffer DA, Gunderson KL, Patel A, Peters S, Cheung SW, Bacino CA (April 2007). "Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: clinical report and review". American Journal of Medical Genetics. Part A. 143A (8): 791–8. doi:10.1002/ajmg.a.31632. PMID 17330859. S2CID 22021740.
  23. ^ a b Newmeyer AJ, Grether S, Grasha C, White J, Akers R, Aylward C, Ishikawa K, Degrauw T (September 2007). "Fine motor function and oral-motor imitation skills in preschool-age children with speech-sound disorders". Clinical Pediatrics. 46 (7): 604–11. doi:10.1177/0009922807299545. PMID 17522288. S2CID 43885254.
  24. ^ Grigos MI, Kolenda N (January 2010). "The relationship between articulatory control and improved phonemic accuracy in childhood apraxia of speech: a longitudinal case study". Clinical Linguistics & Phonetics. 24 (1): 17–40. doi:10.3109/02699200903329793. PMC 2891028. PMID 20030551.
  25. ^ Newmeyer AJ, Aylward C, Akers R, Ishikawa K, Grether S, deGrauw T, Grasha C, White J (2009). "Results of the Sensory Profile in children with suspected childhood apraxia of speech". Physical & Occupational Therapy in Pediatrics. 29 (2): 203–18. doi:10.1080/01942630902805202. PMID 19401932. S2CID 45413362.
  26. ^ a b McNeill BC, Gillon GT, Dodd B (2009). "Effectiveness of an integrated phonological awareness approach for children with childhood apraxia of speech (CAS)" (PDF). Child Language Teaching and Therapy. 25 (3): 341–366. doi:10.1177/0265659009339823. hdl:10092/2375. S2CID 39652370.
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