Definition Williams syndrome is a genetic condition that is present at birth and can affect anyone It is characterized by medical problems including cardiovascular disease developmental delays and learning disabilities These occur side by side with striking verbal abilities highly social ID: 638055
Download Presentation The PPT/PDF document "Williams Syndrome Megan Paugh" is the property of its rightful owner. Permission is granted to download and print the materials on this web site for personal, non-commercial use only, and to display it on your personal computer provided you do not modify the materials and that you retain all copyright notices contained in the materials. By downloading content from our website, you accept the terms of this agreement.
Slide1
Williams Syndrome
Megan Paugh Slide2
Definition
Williams syndrome is a genetic condition that is present at birth and can affect anyone. It is characterized by medical problems, including cardiovascular disease, developmental delays, and learning disabilities. These occur side by side with striking verbal abilities, highly social personalities and an affinity for music.
("Williams Syndrome Association")Slide3
Definition Cont.
Williams syndrome is caused by the deletion of genetic material from a specific region of chromosome 7. The deleted region includes more than 25 genes, and researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder.
("Genetics Home Reference: Your Guide to Understanding Genetic Conditions")Slide4
Characteristics- Appearance
Upturned nose
Long
philtrum (ridges in skin)Wide mouthFull lipsSmall chin Puffiness around eyes
Blue and green-eyed children
“starburst”
White lacy pattern in iris
Clinodactyly
(Inward bend of the small finger)
Pectus
Excavatum (Sunken Chest)Epicanthal Folds (skin that covers the inner corner of the eye)
("Williams Syndrome Association")
("
PubMed
Health")Slide5
(Genetic
Disorders: Williams
Syndrome)Slide6
(Sweeney, Fryer,
Mountford
, Green, and
McIntoch)
Starburst EyeSlide7
(Pike)
Upturned nose & Long
P
hiltrumSlide8
(Grip)
Wide mouth, Full lips & Small chin Slide9
Pectus
Excavatum
(
Khatua
, Pickard, and Mazur)Slide10
Clinodactyly &
Epicanthal
Folds
("Study Blue")
("AllRefer.com")Slide11
Characteristics
Low Birth-Weight/ Slow Weight Gain
Heart and Blood Vessel Problems
Narrowing in the aortaNarrowing in the pulmonary arteries
("Williams Syndrome Association")Slide12
Characteristics that Resolve Themselves
Hypercalcemia
(elevated blood calcium levels)
Feeding ProblemsIrritabilityHyperacusis
(Sensitive Hearing)
Certain frequency can be painful or startling
("Williams Syndrome Association")Slide13
Characteristics-Abnormalities
Dental
Small, widely spaced teeth
Abnormal bite or tooth shapeKidneyMusculoskeletal ProblemsLow muscle tone and joint laxity
Joint stiffen with age
Hernias
("Williams Syndrome Association")Slide14
Characteristics-Socially
Social
Friendly
EndearingUnafraid of strangersInterested in MusicStrength- Expressive Language skills and Politeness
("Williams Syndrome Association")Slide15
Diagnosis
Present at birth, but not noticed until later
After they miss several milestones
(" Encyclopedia of Children's Health")Slide16
Developmental Delays/
Learning Disabilities
Mild to severe learning disabilities and cognitive challenges
Milestones achieved later than “normal”:WalkingTalkingToilet training
Easily distracted- ADD
Develop “Strengths and weaknesses”
("Williams Syndrome Association")Slide17
Demographics
1 in 10,000
20,000-30,000
75% of those with Williams Syndrome have LD50% of those with WS also are diagnosed with ADD/ADHDMost require full-time care50% of passing it on
But is spontaneous as well
("Williams Syndrome Association")
("
PubMed
Health")Slide18
WS and other Disabilities
("Understanding Williams Syndrome")Slide19
Treatment
No cure, but…
Avoid taking extra calcium and Vitamin D
Treat high levels of blood calciumPhysical TherapyDevelopmental and Speech TherapyNo way to prevent it, but…
Prenatal test
("
PubMed
Health")Slide20
Implications
Medical care
Early intervention
Set schedules, explanations, motivationSpatial relations, numbers, abstract reasoningAs adults:Supportive housingVolunteer or work
("Williams Syndrome Association")Slide21
Resources
http://www.williams-syndrome.org/
Williams Syndrome Association
570 Kirts Boulevard Suite 223Troy Michigan 48084
1-800-806-1871
http://www.mdjunction.com/williams-syndrome
Online Support Group
("Williams Syndrome Association")Slide22
Resources
Williams Syndrome Changing Lives Foundation
http://www.wschanginglives.org/
PO Box 76021 St. Petersburg, Florida 33734
("Williams Syndrome Changing Lives Foundation")Slide23
Family of Hope
http://www.wsfamilyofhope.org/
832-884-4098
Educational Information
Teachers and Therapists
Area
Representatives
("Family of Hope")Slide24
ART
("Family of Hope")Slide25Slide26
Resources
Madisons
Foundation
P.O. Box 241956Los Angeles, CA 90024http://www.madisonsfoundation.org/Slide27
Works Cited
"
Epicanthal
fold." AllRefer.com. N.p., 19 2012. Web. 19 Oct 2012. <http://health.allrefer.com/health/epicanthal-folds-epicanthal-fold.html>.
"Genetics quiz II."
Study Blue
. STUDYBLUE INC. ,
n.d
. Web. 19 Oct 2012. <http://www.studyblue.com/notes/note/n/genetics-quiz-ii/deck/63429>.
Grip, Andres. "Williams syndrome."
Mun-H-Center . Anders Grip, 13 2012. Web. 19 Oct 2012. <http://mun-h-center.se/en/Mun-H-Center/Mun-H-Center-E/MHC-Basen/Diagnoser/Williams-syndrom1/>. "Hope is an Open Heart." Family of Hope. Family of Hope,
n.d. Web. 17 Oct 2012. <http://www.wsfamilyofhope.org/Home.html>. Slide28
Works Cited
K., Haley. "Genetic Disorders: Williams Syndrome."
Genetic Disorders
. N.p.. Web. 17 Oct 2012. <http://geneticsf.labanca.net/?p=771>. Khatua,
Sutapa
, Laurens Pickard, and Lynnette Mazur. "Two Teenage Brothers With Chest Wall Anomalies."
Consultant
.
N.p
.,
n.d. Web. 19 Oct 2012. <http://www.pediatricsconsultant360.com/article/two-teenage-brothers-chest-wall-anomalies?page=0,1>. <http://www.pediatricsconsultant360.com/article/two-teenage-brothers-chest-Pike, Steve. "Williams Syndrome." PB Works. N.p.. Web. 17 Oct 2012. <http://torresbioclan.pbworks.com/w/page/22377306/Williams Syndrome>.
Sweeney, E, A Fryer, R Mountford, A Green, and I McIntoch. "Review Article."
Journal of Medical Genetics
. BMJ Journals,
n.d
. Web. 17 Oct 2012. <http://jmg.bmj.com/content/40/3/153.full>. Slide29
Works Cited
"What is Williams Syndrome?."
Williams Syndrome Association
. Williams Syndrome Association. Web. 17 Oct 2012. <http://www.williams-syndrome.org/what-is-williams-syndrome>. "Williams syndrome behavior profile- ADHD." Understanding Williams Syndrome
.
N.p
., 16 2012. Web. 19 Oct 2012. <http://understandingwilliamssyndrome.blogspot.com/2012/09/williams-syndrome-behavior-profile-adhd.html>.
"Williams syndrome ."
Encyclopedia of Children's Health
.
Advameg, Inc. , n.d. Web. 19 Oct 2012. <http://www.healthofchildren.com/U-Z/Williams-Syndrome.html>.Slide30
Works Cited
"Williams Syndrome Changing Lives Foundation Changing Lives....One Person at a Time."
Williams Syndrome Changing Lives Foundation
. WSCHANGINGLIVES.ORG, n.d. Web. 19 Oct 2012. <http://www.wschanginglives.org/>. "Williams syndrome."
Genetics Home Reference: Your Guide to Understanding Genetic Conditions
.
N.p
., 15 2012. Web. 17 Oct 2012. <http://ghr.nlm.nih.gov/condition/williams-syndrome>.
"Williams Syndrome."
PubMed
Health. National Center for Biotechnology Information, U.S. National Library of Medicine, 14 2011. Web. 17 Oct 2012. <http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002105/>.