Speech and language disorders in velo-cardio-facial syndrome

Velo-Cardio-Facial Syndrome: A Model for Understanding Microdeletion Disorders

Volumn , Issue , 2005, Pages 181-199

  Golding Kushner, Karen J ^a  

^a Velo cardio facial syndrome Educational Foundation   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 33645072829     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1017/CBO9780511544101.011     Document Type: Chapter

References (57)

1. Arvystas, M. & Shprintzen, R. (1984) Craniofacial morphology in velo-cardio-facial syndrome. J. Craniofacial Genet. Dev. Biol., 4, 39-45.
2. Bearden, C., Woodin, M., Wang, P. et al. (2001) The neurocognitive phenotype of the 22q11.2 deletion syndrome: selective deficit in visual-spatial memory. J. Clin. Exp. Neuropsych., 23, 447-64.
3. Carneol, S., Marks, S. & Weik, L. (1999) The speech-language pathologist: key role in the diagnosis of velocardiofacial syndrome. Am. J. Speech Lang. Pathol., 8, 23-32.
4. Chong, Z., Jawan, B., Poon, Y. et al. (1997) Unsuspected difficult intubation caused by a laryngeal web. Br. J Anaesthes., 79, 396-97.
5. D’Antonio, L., Scherer, N., Miller, L. et al. (2001) Analysis of speech characteristics in children with velocardiofacial syndrome (VCFS) and children with phenotypic overlap without VCFS. Cleft Pal-Craniofacial J., 39, 455-67.
6. Digilio, M., Pacifico, C., Tieri, L. et al. (1999) Audiological findings in patients with microdeletion 22q11 (di George/velocardiofacial syndrome). Br. J. Audiol., 33, 329-33.
7. Drevensek, S., Purcell, A., van Doom., et al. (2002) Velo-cardio-facial syndrome: communication features and surgical outcomes. Annual meeting of the Velocardiofacial Syndrome Educational Foundation, Brisbane, Australia.
8. Eliez, S., Palacio-Espasa, F., Spira, A. et al. (2000a) Young children with velo-cardio-facial syndrome (CATCH-22): psychological and language phenotypes. Eur. Child Adolesc. Psychiatry, 9, 109-15.
9. Eliez, S., Schmitt, E., White, C. et al. (2000b) Children and adolescents with velocardiofacial syndrome: a volumetric MRI study. Am. J. Psychiatry, 157, 409-15.
10. Eliez, S., Antonarakis, S., Morris, M. et al. (2001a) Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome. Arch. Gen. Psychiatry, 58, 64-8.
11. Eliez, S., Blasey, C., Menon, V. et al. (2001b) Functional brain imaging study of mathematical reasoning abilities in velocardiofacial syndrome (del22q11.2). Genet. Med., 3, 49-55.
12. Glander, K. (1990) A comparison of the craniofacial characteristics of two syndromes associated with Pierre Robin sequence. Unpublished orthodontic thesis, Department of Dentistry, Montefiore Medical Center and the Albert Einstein College of Medicine, Bronx, NY.
13. Glaser, B., Mumme, D., Blasey, C. et al. (2002) Language skills in children with velocardiofacial syndrome (deletion 22q11.2). J. Pediatr., 140, 753-8.
14. Golding-Kushner, K. (1981) Articulation and velopharyngeal insufficiency; A rational for pre-surgical speech therapy. Fourth International Congress of Cleft Palate and Craniofacial Anomalies, Acapulco, Mexico.
15. Golding-Kushner, K. (1991) Craniofacial Morphology and Velopharyngeal Function in Four Syndromes of Clefting. Unpublished doctoral dissertation, The Graduate School and University Center, New York.
16. Golding-Kushner, K. (1993) Pharyngeal flaps in patients with velo-cardio-facial syndrome. Society for Ear, Nose, and Throat Advances in Children. Pittsburgh, PA.
17. Golding-Kushner, K. (1995) Treatment of articulation and resonance disorders associated with cleft palate and VPI. In Shprintzen, R. J. & Bardach, J., eds. Cleft Palate Speech Management: a Multidisciplinary Approach. St. Louis: C.V. Mosby, pp. 327-51.
18. Golding-Kushner, K. (2001) Therapy Techniques for Cleft Palate Speech and VPI. San Diego, CA: Singular Publishing Group.
19. Golding-Kushner, K. & Shprintzen, R. (1998) To sign or not to sign? VCFSEF Newsletter, November.
20. Golding-Kushner, K., Weller, G. & Shprintzen, R. (1985) Velo-cardio-facial syndrome: language and psychological profiles. J. Craniofacial Genet. Dev. Biol., 5, 259-66.
21. Golding-Kushner, K., Argamaso, R. V. & Mitnick, R. (1994) Pharyngeal flaps in patients with velo-cardio-facial syndrome. American Cleft Palate-Craniofacial Association. Toronto, Canada.
22. Greenberg, I. & Fifer, R. (2000) Evidence that the association between hypernasality and 22q11 deletion syndrome still goes undetected. Am. J. Speech Lang. Pathol., 9, 197-201.
23. Hall, C. & Golding-Kushner, K. J. (1989) Long-term follow-up of 500 patients after palate repair performed prior to 18 months of age. Sixth International Congress on Cleft Palate and Related Craniofacial Anomalies. Jerusalem, Israel.
24. Havkin, N., Tatum, S. & Shprintzen, R. (2000) Velopharyngeal insufficiency and articulation impairment in velo-cardio-facial syndrome: the influence of adenoids on phonemic development. Int. J. Ped. Otolaryngol., 54, 103-10.
25. Henningsson, G. & Isberg, A. (1986) Velopharyngeal movements in patients alternating between oral and glottal articulation: a clinical and cineradiographical study. Cleft Palate J., 23, 1-9.
26. Henry, J., Amelsvoort, T., Morris, R. et al. (2002) An investigation of the neuropsychological profile in adults with velo-cardio-facial syndrome (VCFS). Neuropsychologia, 40, 471-8.
27. Karnell, M. (1994) Videoendoscopy: from Velopharynx to Larynx. San Diego, CA: Singular Publishing Group.
28. Kates, W., Burnette, C., Jabs, E. et al. (2001) Regional cortical white matter reductions in velocardiofacial syndrome: a volumetric MRI analysis. Biol. Psychiatry, 49, 677-84.
29. Kok, L. & Solman, R. (1995) Velocardiofacial syndrome: learning difficulties and intervention. J. Med. Genet., 32, 612-18.
30. Kuehn, D. & Moller, K. (2000) The state of the art: speech and language issues in the cleft palate population. Cleft Pal-Craniofacial J., 37, 348.
31. Landsman, D. (2001) Educating the Child with Velo-Cardio-Facial Syndrome: A Handbook for Parents and Professionals. http://vcfsef.org/vcfs_education.html.
32. Mortelliti, A., Tatum, S., Havkin, N. et al. (2005) Posterior displacement of the tonsils can cause chronic cough and symptoms typically associated with reflux. Int. J. Ped. Otorhinolaryngol (in press).
33. Moss, E., Batshaw, M., Solot, C. et al. (1999) Psychoeducational profile of the 22q11.2 microdeletion: a complex pattern. J. Pediatr., 134, 193-8.
34. Murphy, K. C., Jones, R., Griffiths, E. et al. (1998) Chromosome 22q11 deletions: an under-recognized cause of idiopathic learning disability. Br. J. Psychiatry, 172, 180-3.
35. Nayak, J. & Sell, D. (1998) Communication disorders in VCFS: A clinical audit. Fourth Annual Meeting of the Velocardiofacial Syndrome Educational Foundation, Boston, MA.
36. Peterson-Falzon, S., Hardin-Jones, M. & Karnell, M. (2001) Cleft Palate Speech. St. Louis, MO: Mosby.
37. Riolo, M., Moyers, R., McNamara, J. et al. (1974) Atlas of Cranial Growth. University of Michigan Center for Human Growth and Development. Ann Arbor, MI:
38. Ruscello, D. (1982) A selected review of palatal training procedures. Cleft Palate J., 18, 181-93.
39. Scherer, N. (2002) Language impairments and school success VCFSEF News, 8, 4.
40. Scherer, N. & D’Antonio L. (1998) To sign or not to sign? VCFSEF Newsletter, November.
41. Scherer, N., D’Antonio, L. & Kalbfleish, J. (1999) Early speech and language development in children with velocardiofacial syndrome. Am. J. Med. Genet., 88, 714-23.
42. Scherer, N., D’Antonio, L. & Rodgers, J. (2001) Profiles of communication disorder in children with velocardiofacial syndrome: comparison to children with Down syndrome. Genet. Med., 3, 72-8.
43. Shprintzen, R. (1993) Genetics, syndrome delineation, and communicative impairment. In Minifie, F., ed., Introduction to Communication Sciences and Disorders. San Diego, CA:, Singular Publishing Group, pp. 439-80.
44. Shprintzen, R. (1999) Clinical data base project. http://vcfsef.org/pp/vcf_facts/sld001.htm.
45. Shprintzen, R. (2000) Syndrome Identification for Speech-Language Pathology. San Diego, CA: Singular Publishing Group.
46. Shprintzen, R. (2003) Velo-cardio-facial syndrome. In Cassidy, S., & Allanson, J., eds., Management of Genetic Syndromes, 2nd edn. New York: John Wiley & Sons, pp. 615-632
47. Shprintzen, R. & Goldberg, R. (1995) The genetics of clefting and associated syndromes. In Shprintzen, R. J. & Bardach, J. eds., Cleft Palate Speech Management: A Multidisciplinary Approach. St. Louis: C.V. Mosby, pp. 16-43.
48. Shprintzen, R., Goldberg, R., Lewin, M. et al. (1978) A new syndrome involving cleft palate, cardiac anomalies, typical facies and learning disabilities: velo-cardio-facial syndrome. Cleft Palate J., 15, 56-62.
49. Solot, C., Knightly, C., Handler, S. et al. (2000) Communication disorders in the 22q11.2 microdeletion syndrome. J. Commun. Dis., 33, 187-204.
50. Solot, C., Gerdes, M., Kirschner, R. et al. (2001) Communication issues in 22q11.2 deletion syndrome: children at risk. Genet. Med., 3, 67-71.
51. Swillen, A., Vandeputte, L., Cracco, J. et al. (1999) Neuropsychological, learning and psychosocial profile of primary school aged children with velo-cardio-facial syndrome (22q11 deletion): evidence for a nonverbal learning disability? Child Neuropsychol., 5, 230-41.
52. Tatum, S., Chang, J., Havkin, N. et al. (2002) Pharyngeal flap and the internal carotid in velocardiofacial syndrome. Arch Facial Plast. Surg., 4, 73-80.
53. Traquina, D., Golding-Kushner, K. J. & Shprintzen, R. J. (December 1990) Comparison of tonsil size based on oral and nasopharyngoscopic observation. Society of Ear Nose and Throat Advances in Children, Washington, DC.
54. Trost, J. (1981) Articulatory additions to the classical description of the speech of persons with cleft palate. Cleft Palate J., 18, 193-203.
55. Van Lierde, K., Van Borsel, J., Van Cauwenberge, P. et al. (2001) Speech patterns in children with velo-cardio-facial syndrome: two case studies. Fol. Phoniatr. Logopaed., 53, 213-21.
56. Wang, P., Solot, C., Moss, E. et al. (1998) Developmental presentation of 22q11.2 deletion (DiGeorge/velocardiofacial syndrome). J. Dev. Behav. Ped., 19, 342-5.
57. Zim, S., Schelper, R., Kellman, R. et al. (2003) Thickness, histology, and histochemistry of the superior pharyngeal constrictor muscle in velocardiofacial syndrome. Annual Meeting of the Velocardiofacial Syndrome Educational Foundation, San Diego, CA.