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ACQ

uiring knowledge

in

sp eech

,

language and hearing

, Volume 11, Number 1 2009

53

MULTICULTURALISM AND DYSPHAGIA

cardio-facial syndrome: A model for understanding microdeletion

disorders

(pp. 200–218). Cambridge: Cambridge University

Press.

Mills, L., Gosling, A. & Sell, D. (2006). Extending the

communication phenotype associated with 22q11.2 micro­

deletion syndrome.

Advances in Speech-Language Pathology

,

8

(1), 17–27.

Nohara, K., Kotani, Y., Ojima, M., Sasao, Y., Tachimura, T.,

& Sakai, T. (2007). Power spectra analysis of levator veli

palatini muscle electromyogram during velopharyngeal

closure for swallowing, speech, and blowing.

Dysphagia

,

22

(2),

135–139.

Rommel, N., Davidson, G., Cain, T., Hebbard, G. & Omari,

T. (2008). Videomanometric evaluation of pharyngo-

oesophageal dysmotility in children with velocardiofacial

syndrome.

Journal of Pediatric Gastroenterology and Nutrition

,

46

, 87–91.

Scherer, N. J., D’Antonio, L. L., & Kalbfleisch, J. H. (1999).

Early speech and language development in children with

velocardiofacial syndrome.

American Journal of Medical

Genetics

,

88

, 714–723.

Shprintzen, R. J. (2008). Velo-cardio-facial syndrome: 30

years of study.

Developmental Disabilities Research Reviews, 14

,

3–10.

Solot, C. B., Gerdes, M., Kirschner, R. E., McDonald-

McGinn, D., Moss, E., Woodin, M., Aleman, D., Zackai, E. H.,

& Wang, P. P. (2001). Communication issues in 2q11 deletion

syndrome: Children at risk.

Genetics in Medicine

,

3

, 67–71.

Solot, C., Handler, S., Gerdes, M., McDonald-McGinn, D.,

Moss, E., Wang, P., Cohen, M., Randall, P., LaRossa, D. &

Driscoll, D. (2000). Communication disorders in the 22q11.2

microdeletion syndrome.

Journal of Communication Disorders

,

33

, 187–204.

Useful websites

www.maxappeal.org.uk

– UK parent support group

www.vcfsef.org.au

– Australian parent support group

www.chop.edu/consumer/jsp/division/generic.jsp?id=74654

22q and you – Children’s Hospital of Philadelphia

www.vcfs.org.nz

– New Zealand parent support group

20s and can vary from mild mood swings to bipolar disorder

or schizophrenia.

Conclusion

22q11 deletion syndrome is an important syndrome for the

speech-language therapist to recognise and understand in

order to make appropriate referrals and offer appropriate

treatment at optimum stages. Referral to a paediatrician is

indicated if this syndrome is suspected and referral to a cleft

palate team speech-language therapist is important to assess

and plan management for VPD. The local speech-language

therapist should continue to have a key role working with the

family. The SLT should also be involved in liaising with

medical and educational professionals, both in the manage­

ment of the communication and feeding issues and in promoting

early diagnosis of this complex but common syndrome.

References

Cable, B. & Mair, E. (2003). Avoiding the perils and pitfalls in

velocardiofacial syndrome: An otolaryngologist’s perspective.

Ear Nose & Throat Journal

,

82

(1), 56–60.

Carneol, S. O., Marks, S. M. & Weik, L. A. (1999). The

speech-language pathologist: Key role in the diagnosis of

velocardiofacial syndrome.

American Journal of Speech-Language

Pathology

,

8

(1), 23–32.

Cutler-Landsman, D. (2007).

Educating children with velo-

cardio-facial syndrome

. San Diego, CA: Plural Publishing.

D’Antonio, L. L., Scherer, N. J., Miller, L. L., Kalbfleisch, J.

H. & Bartley, J. A. (2001). Analysis of speech characteristics in

children with velocardiofacial syndrome (VCFS) and children

with phenotypic overlap without VCFS.

Cleft Palate-Cranio­

facial Journal

,

38

(5), 455–467.

Devrient, K., Rommel, N. & Casteels, I. (2005). Nephro-

urologic, gastrointestinal, and opthalmic findings. In K. C.

Murphy, & P. J. Scambler (Eds.),

Velo-cardio-facial syndrome: A

model for understanding microdeletion disorders

(pp. 105–122).

Cambridge: Cambridge University Press.

Dyce, O., McDonald-McGinn, D., Kirschner, R. E., Zackai,

E., Young, K., & Jacobs, I. N. (2002). Otolaryngologic

manifestations of the 22q11.2 deletion syndrome.

Archives of

Otolaryngology, Head and Neck Surgery

,

128

, 1408–1412.

Eicher, P.S., McDonald-Mcginn, D. M., Fox, C. A., Driscoll,

D. A., Emanuel, B. S., & Zackai, E. H. (2000). Dysphagia in

children with a 22q11.2 deletion: Unusual pattern found on

modified barium swallow.

Journal of Pediatrics

,

137

(2),158–64.

Gerdes, M., Solot, C., Wang, P., Moss, E., LaRossa, D.,

Randall, P., Goldmuntz, E., Clark, B. J., Driscoll, D., Jawad, A.,

Emanuel, B., McDonald-McGinn, D., Batshaw, M. & Zackai,

E. (1999). Cognitive and behavior profile of preschool children

with chromosome 22q11.2 deletion.

American Journal of Medical

genetics

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85

, 127–133.

Glaser, B., Mumme, D., Blasey, C., Morris, M., Dahoun, S.,

Antonarakis, S., Reiss, A., & Eliez, S. (2002). Language skills

in children with velocardiofacial syndrome (deletion 22q11.2).

Journal of Pediatrics

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140

(6), 753–758.

Lipson, A. H., Yuille, D., Angel, M., Thompson, P. G,

Vandervoord, J. G. & Beckenham, E. J. (1991). Velocardiofacial

(Shprintzen) syndrome: An important syndrome for the

dysmorphologist to recognise.

Journal Medical Genetics

,

28

,

596–604.

McDonald-McGinn, D. M. (2004). Much ado about 22q?

Proceedings

of the 10th Annual International Meeting of the

Velo-Cardio-Facial-Syndrome Education Foundation, Inc and

the Fourth International Conference for 22.11.2 Deletions,

Atlanta, Georgia.

McDonald-McGinn, D. M. & Zackai, E. H. (2005). Genetic

counselling. In K. C. Murphy, & P. J. Scambler (Eds.),

Velo-

Alex Forsyth

, specialist speech and language therapist,

works as part of the North Thames Regional Cleft Lip

and Palate Team, based at Great Ormond Street Hospital

in London, UK.

Maeve Morrison

, specialist speech and

language therapist, works as the lead speech and

language therapist for the Cleft Lip and Palate Team,

Counties Manukau District Health Board based at

Middlemore Hospital in Auckland, New Zealand.

Correspondence to:

Alex Forsyth

Specialist Speech and Language Therapist

Cleft Lip and Palate/Dysphagia

The Great Ormond Street Hospital

Great Ormond Street

London, WCIN 3JH UK

email:

Akempa@gosh.nhs.uk

Maeve Morrison

Speech-Language Therapist

Cleft Lip and Palate Team

Middlemore Hospital

Private Bag 93311 Otahuhu

Auckland, New Zealand

email:

mamorrison@middlemore.co.nz