Transcript Williams Syndrome - Bellarmine University

Williams Syndrome
Mary Bystrek
Williams Syndrome
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Autosomal dominant
disorder
Occurs in
approximately one of
every 20,000 births
Variability in
expressivity
www.specialchild.com/ archives/dz-004.html
Overall Cause
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Spontaneous deletion on chromosome band
7q11.23.
Deletion removes more than 20 genes that
encode for different functions.
www.turkotek.com/ salon_00097/salon.html
Problems associated with WS
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Heart & Blood Vessel Defects
 Supravalvular
aortic stenosis
 High blood pressure
 Hypertension
 Hypercalcemia
www.aic.cuhk.edu.hk/ web8/Heart%20diagrams.htm
Problems associated with WS
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Vascular & Connective Tissue Deficiency
 Gene
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that encodes for elastin is deleted
Kidney Defects
 Stenosis
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of the renal arteries
Hernias
 Groin
& umbilical hernias are more frequent in
WS patients.
Psychological Effects
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Mental Retardation
Behavior Characteristics
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“Cocktail Party” personality
Memory loss
Learning Disabilities
Neurological Problems
Auditory & Verbal
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Sensitive hearing
Amazing musical abilities
msnbc.msn.com/id/3069769/
Physical Characteristics
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Facial Characteristics
Growth
Voice
Dental Abnormalities
home.sc.rr.com/cmindel/
Diagnosis
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FISH (fluorescent in situ hybridization)
 Most
common method of testing for WS
 Analyzes specialized chromosomes by using
specially prepared elastin probes
 The FISH test will show only one copy of the
elastin gene in patients with WS.
 Detects deletion of the gene more than 98%
of the time
Treatment
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www.williams.ngo.hu/ udvozlet/zsofi.jpg
No actual cure
Support groups,
including the Williams
Syndrome
Association
Therapies (music,
horseback riding, etc.)
Special teacher &
parent info
References
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Bower, Bruce. (2004). A Very Spatial Brain Defect. Science News, Vol. 166, Iss.
11. 165 – 167.
Cagle et al. (2004). Severe Infantile hyperclacemia Associated With Williams
Syndrome Successfully Treated With Intravenously Administered Pamidronate.
Pediatrics, Vol. 114 No. 4, 1091-1095.
Dhillon et al. (1998). Acquired coarctation of the aorta in Williams Syndrome.
Heart, 80, 205-207.
Doyle et al. (2004). “Everybody in the world is my friend” hypersociability in young
children with Williams syndrome. American Journal of Medical Genetics, 124 (3),
263-273.
Eronen et al. (2002). Cardiovascular manifestations in 75 patients with Williams
syndrome. Journal of Medical Genetics, 39, 554-558.
Fanconi et al. (1952). Chronische Hypercalcaemie. Helv. Paediat. Acta, 7, 314334.
Kaplan et al. (1995). Cerebral artery stenoses in Williams syndrome cause strokes
in childhood. Journal of Pediatrics., 126, 943 – 945.
Pasternak, J.J. An Introduction to Human Molecular Genetics: Mechanisms of
Inherited Diseases. 2nd ed. New Jersey: Wisley, 2005. pp 543 – 545.
Williams Syndrome Association: http://www.williams-syndrome.org