Developmental verbal dyspraxia explained

Developmental verbal dyspraxia
Synonyms:Speech and language disorder with orofacial 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]

The exact cause of this disorder is usually unknown. Many observations suggest a genetic cause of DVD, as many with the disorder have a family history of communication disorders.[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.

There is no cure for DVD, but with appropriate, intensive intervention, people with this motor speech disorder can improve significantly.[6]

Presentation

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

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.[6]

Causes

DVD/CAS is a motor disorder, which means that the problem is located in the brain and its signals, and not in the mouth.[7] In most cases, the cause is unknown. Possible causes include genetic syndromes and disorders.[7]

Recent research has focused on the significance of the FOXP2 gene[8] [9] [10] [11] [12] in both species and individual development.[13] 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] [14] and further studies suggest that the FOXP2 gene as well as other genetic issues could explain DVD/CAS.[8] [15] including 16p11.2 microdeletion syndrome.[16] [17]

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.[18] Patients with mutations in SCN3A had oral-motor speech disorders.

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] [19] and chromosome translocations[13] [20] involving duplications or deletions.[15] [21]

Diagnosis

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,[22] a more formal examination, are also used in diagnosis.[22] 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.[23]

Management

There is no cure for DVD/CAS, but with appropriate, intensive intervention, people with the disorder can improve significantly.[6]

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).[7] 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.

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,[6] 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

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.

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

Integrated phonological approach

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".[25] 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.[25]

See also

Notes and References

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  2. Web site: 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 . 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 . January 1995 . 7846081 . 42734 . 10.1073/pnas.92.3.930 . 1995PNAS...92..930V . free .
  4. Watkins KE, Gadian DG, Vargha-Khadem F . Functional and structural brain abnormalities associated with a genetic disorder of speech and language . American Journal of Human Genetics . 65 . 5 . 1215–21 . November 1999 . 10521285 . 1288272 . 10.1086/302631 .
  5. Newbury DF, Monaco AP . Genetic advances in the study of speech and language disorders . Neuron . 68 . 2 . 309–20 . October 2010 . 20955937 . 2977079 . 10.1016/j.neuron.2010.10.001 .
  6. Book: Becoming Verbal and Intelligible: A Functional Motor Programming Approach for Children with Developmental Verbal Apraxia . Kathleen . Dauer . Sandra . Irwin . Sandra . Schippits . August 1996 . vanc . Harcourt Publishers Ltd . 978-0761631729.
  7. Web site: Childhood Apraxia of Speech . American Speech-Language-Hearing Association (ASHA). 7 October 2013 .
  8. Bacon C, Rappold GA . The distinct and overlapping phenotypic spectra of FOXP1 and FOXP2 in cognitive disorders . Human Genetics . 131 . 11 . 1687–98 . November 2012 . 22736078 . 3470686 . 10.1007/s00439-012-1193-z .
  9. Vernes SC, MacDermot KD, Monaco AP, Fisher SE . Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia . European Journal of Human Genetics . 17 . 10 . 1354–8 . October 2009 . 19352412 . 2784575 . 10.1038/ejhg.2009.43 .
  10. Kang C, Drayna D . Genetics of speech and language disorders . Annual Review of Genomics and Human Genetics . 12 . 145–64 . 2011 . 21663442 . 10.1146/annurev-genom-090810-183119 .
  11. MacDermot KD, Bonora E, Sykes N, Coupe AM, Lai CS, Vernes SC, Vargha-Khadem F, McKenzie F, Smith RL, Monaco AP, Fisher SE . Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits . American Journal of Human Genetics . 76 . 6 . 1074–80 . June 2005 . 15877281 . 1196445 . 10.1086/430841 .
  12. Preuss TM . Human brain evolution: from gene discovery to phenotype discovery . Proceedings of the National Academy of Sciences of the United States of America . 109 . 10709–16 . June 2012 . Suppl 1 . 22723367 . 3386880 . 10.1073/pnas.1201894109 . 2012PNAS..10910709P . free .
  13. White . Stephanie A. . Stephanie A. White. Fisher . Simon E. . Geschwind . Daniel H. . Scharff . Constance . Holy . Timothy E. . Singing Mice, Songbirds, and More: Models for FOXP2 Function and Dysfunction in Human Speech and Language . Journal of Neuroscience . 11 October 2006 . 26 . 41 . 10376–10379 . 2683917 . 10.1523/JNEUROSCI.3379-06.2006 . 17035521 . en . 0270-6474. 11858/00-001M-0000-0012-CB1F-7 . free .
  14. Vargha-Khadem F, Gadian DG, Copp A, Mishkin M . FOXP2 and the neuroanatomy of speech and language . Nature Reviews. Neuroscience . 6 . 2 . 131–8 . February 2005 . 15685218 . 10.1038/nrn1605 . 2504002 . 2013-11-27 . 2020-03-09 . https://web.archive.org/web/20200309170326/http://isites.harvard.edu/fs/docs/icb.topic1169974.files/FOXP2%20review%20Vargha%20Khadem.pdf . dead .
  15. Newbury DF, Mari F, Sadighi Akha E, Macdermot KD, Canitano R, Monaco AP, Taylor JC, Renieri A, Fisher SE, Knight SJ . 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 . April 2013 . 22909776 . 3598310 . 10.1038/ejhg.2012.166 .
  16. Raca G, Baas BS, Kirmani S, Laffin JJ, Jackson CA, Strand EA, Jakielski KJ, Shriberg LD . Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome . European Journal of Human Genetics . 21 . 4 . 455–9 . April 2013 . 22909774 . 3598318 . 10.1038/ejhg.2012.165 .
  17. Worthey EA, Raca G, Laffin JJ, Wilk BM, Harris JM, Jakielski KJ, Dimmock DP, Strand EA, Shriberg LD . Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech . Journal of Neurodevelopmental Disorders . 5 . 1 . 29 . October 2013 . 24083349 . 3851280 . 10.1186/1866-1955-5-29 . free .
  18. Smith RS, Kenny CJ, Ganesh V, Jang A, Borges-Monroy R, Partlow JN, Hill RS, Shin T, Chen AY, Doan RN, Anttonen AK, Ignatius J, Medne L, Bönnemann CG, Hecht JL, Salonen O, Barkovich AJ, Poduri A, Wilke M, de Wit MC, Mancini GM, Sztriha L, Im K, Amrom D, Andermann E, Paetau R, Lehesjoki AE, Walsh CA, Lehtinen MK . 6 . V1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development . Neuron . 99 . 5 . 905–913.e7 . September 2018 . 30146301 . 6226006 . 10.1016/j.neuron.2018.07.052 .
  19. Shriberg LD, Potter NL, Strand EA . Prevalence and phenotype of childhood apraxia of speech in youth with galactosemia . Journal of Speech, Language, and Hearing Research . 54 . 2 . 487–519 . April 2011 . 20966389 . 3070858 . 10.1044/1092-4388(2010/10-0068) .
  20. Shriberg LD, Ballard KJ, Tomblin JB, Duffy JR, Odell KH, Williams CA . 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 . June 2006 . 16787893 . 10.1044/1092-4388(2006/038) .
  21. Lennon PA, Cooper ML, Peiffer DA, Gunderson KL, Patel A, Peters S, Cheung SW, Bacino CA . 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 . April 2007 . 17330859 . 10.1002/ajmg.a.31632 . 22021740 .
  22. Newmeyer AJ, Grether S, Grasha C, White J, Akers R, Aylward C, Ishikawa K, Degrauw T . Fine motor function and oral-motor imitation skills in preschool-age children with speech-sound disorders . Clinical Pediatrics . 46 . 7 . 604–11 . September 2007 . 17522288 . 10.1177/0009922807299545 . 43885254 .
  23. Grigos MI, Kolenda N . 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 . January 2010 . 20030551 . 2891028 . 10.3109/02699200903329793 .
  24. Newmeyer AJ, Aylward C, Akers R, Ishikawa K, Grether S, deGrauw T, Grasha C, White J . Results of the Sensory Profile in children with suspected childhood apraxia of speech . Physical & Occupational Therapy in Pediatrics . 29 . 2 . 203–18 . 2009 . 19401932 . 10.1080/01942630902805202 . 45413362 .
  25. McNeill BC, Gillon GT, Dodd B . Effectiveness of an integrated phonological awareness approach for children with childhood apraxia of speech (CAS). Child Language Teaching and Therapy . 25. 3. 2009. 341–366. 10.1177/0265659009339823. 10092/2375. 39652370. free.

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