Skip to main content Accessibility help
×
Hostname: page-component-cd9895bd7-q99xh Total loading time: 0 Render date: 2024-12-24T12:51:14.733Z Has data issue: false hasContentIssue false

10 - Speech and language disorders in velo-cardio-facial syndrome

Published online by Cambridge University Press:  11 August 2009

Karen J. Golding-Kushner
Affiliation:
Velo-cardio-facial syndrome Educational Foundation, NJ, USA
Kieran C. Murphy
Affiliation:
Education and Research Centre, Royal College of Surgeons of Ireland
Peter J. Scambler
Affiliation:
Institute of Child Health, University College London
Get access

Summary

Speech, language, and learning problems are among the most common characteristics of velo-cardio-facial syndrome (VCFS) (Shprintzen et al., 1978; Golding-Kushner et al., 1985; Golding-Kushner, 1991; Kok & Solman, 1995; Wang et al., 1998; Scherer et al., 1999; Shprintzen, 2000; D'Antonio et al., 2001), and speech, language, and cognitive patterns in children with VCFS may, in some ways, be unique (Scherer et al., 1999; Eliez et al., 2000a; Shprintzen, 2000; Bearden et al., 2001; D'Antonio et al., 2001). In fact, it is often the speech, language, and learning problems that lead – or should lead – clinicians to suspect a diagnosis of VCFS (Murphy et al., 1998; Carneol et al., 1999; Greenberg & Fifer, 2000). Speech includes the actual production of oral communication: articulation, voice, resonance, and fluency. The term language refers to the symbolic aspects of communication: comprehension and the formulation and expression of ideas and concepts. Our current understanding of speech and language patterns and best treatment practices for individuals with VCFS will be described in this chapter.

Language

As many as 98% of children with VCFS have developmental delay (Shprintzen, 1999) and speech and language delays are usually apparent from the onset of language (Shprintzen et al., 1978; Scherer et al., 1999; Solot et al., 2000).

Type
Chapter
Information
Velo-Cardio-Facial Syndrome
A Model for Understanding Microdeletion Disorders
, pp. 181 - 199
Publisher: Cambridge University Press
Print publication year: 2005

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Arvystas, M. & Shprintzen, R. (1984) Craniofacial morphology in velo-cardio-facial syndrome. J. Craniofacial Genet. Dev. Biol., 4, 39–45.Google Scholar
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.Google Scholar
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.Google Scholar
Chong, Z., Jawan, B., Poon, Y.et al. (1997) Unsuspected difficult intubation caused by a laryngeal web. Br. J Anaesthes., 79, 396–97.Google Scholar
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.Google Scholar
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.Google Scholar
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.
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.Google Scholar
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.Google Scholar
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.Google Scholar
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.Google Scholar
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.
Glaser, B., Mumme, D., Blasey, C.et al. (2002) Language skills in children with velocardiofacial syndrome (deletion 22q11.2). J. Pediatr., 140, 753–8.Google Scholar
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.
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.
Golding-Kushner, K.(1993) Pharyngeal flaps in patients with velo-cardio-facial syndrome. Society for Ear, Nose, and Throat Advances in Children. Pittsburgh, PA.
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.
Golding-Kushner, K.(2001) Therapy Techniques for Cleft Palate Speech and VPI. San Diego, CA: Singular Publishing Group.
Golding-Kushner, K. & Shprintzen, R. (1998) To sign or not to sign? VCFSEF Newsletter, November.
Golding-Kushner, K., Weller, G. & Shprintzen, R. (1985) Velo-cardio-facial syndrome: language and psychological profiles. J. Craniofacial Genet. Dev. Biol., 5, 259–66.Google Scholar
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.
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.Google Scholar
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.
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.Google Scholar
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.Google Scholar
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.Google Scholar
Karnell, M. (1994) Videoendoscopy: from Velopharynx to Larynx. San Diego, CA: Singular Publishing Group.
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.Google Scholar
Kok, L. & Solman, R. (1995) Velocardiofacial syndrome: learning difficulties and intervention. J. Med. Genet., 32, 612–18.Google Scholar
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.Google Scholar
Landsman, D. (2001) Educating the Child with Velo-Cardio-Facial Syndrome: A Handbook for Parents and Professionals. http://vcfsef.org/vcfs_education.html.
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).
Moss, E., Batshaw, M., Solot, C.et al. (1999) Psychoeducational profile of the 22q11.2 microdeletion: a complex pattern. J. Pediatr., 134, 193–8.Google Scholar
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.Google Scholar
Nayak, J. & Sell, D. (1998) Communication disorders in VCFS: A clinical audit. Fourth Annual Meeting of the Velocardiofacial Syndrome Educational Foundation, Boston, MA.
Peterson-Falzon, S., Hardin-Jones, M. & Karnell, M. (2001) Cleft Palate Speech. St. Louis, MO: Mosby.
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:
Ruscello, D. (1982) A selected review of palatal training procedures. Cleft Palate J., 18, 181–93.Google Scholar
Scherer, N. (2002) Language impairments and school success. VCFSEF News, 8, 4.
Scherer, N. & D'Antonio L., (1998) To sign or not to sign? VCFSEF Newsletter, November.
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.Google Scholar
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.Google Scholar
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.
Shprintzen, R.(1999) Clinical data base project. http://vcfsef.org/pp/vcf_facts/sld001.htm.
Shprintzen, R., (2000) Syndrome Identification for Speech-Language Pathology. San Diego, CA: Singular Publishing Group.
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
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.
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.Google Scholar
Solot, C., Knightly, C., Handler, S.et al. (2000) Communication disorders in the 22q11.2 microdeletion syndrome. J. Commun. Dis., 33, 187–204.Google Scholar
Solot, C., Gerdes, M., Kirschner, R.et al. (2001) Communication issues in 22q11.2 deletion syndrome: children at risk. Genet. Med., 3, 67–71.Google Scholar
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.Google Scholar
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.Google Scholar
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.
Trost, J. (1981) Articulatory additions to the classical description of the speech of persons with cleft palate. Cleft Palate J., 18, 193–203.Google Scholar
Lierde, K., Borsel, J., Cauwenberge, P.et al. (2001) Speech patterns in children with velo-cardio-facial syndrome: two case studies. Fol. Phoniatr. Logopaed., 53, 213–21.Google Scholar
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.Google Scholar
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.

Save book to Kindle

To save this book to your Kindle, first ensure [email protected] is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×