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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
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(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
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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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, 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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(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.ukMaeve Morrison
Speech-Language Therapist
Cleft Lip and Palate Team
Middlemore Hospital
Private Bag 93311 Otahuhu
Auckland, New Zealand
email:
mamorrison@middlemore.co.nz