1. Williams Syndrome Megan Paugh

2. 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")

3. 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")

4. Characteristics- Appearance Upturned nose Long philtrum (ridges in skin) Wide mouth Full lips Small 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")

5. (Genetic Disorders: Williams Syndrome)

6. (Sweeney, Fryer, Mountford, Green, and McIntoch) Starburst Eye

7. (Pike) Upturned nose & Long Philtrum

8. (Grip) Wide mouth, Full lips & Small chin

9. Pectus Excavatum (Khatua, Pickard, and Mazur)

10. Clinodactyly & Epicanthal Folds ("Study Blue") ("AllRefer.com")

11. Characteristics Low Birth-Weight/ Slow Weight Gain Heart and Blood Vessel Problems ▫Narrowing in the aorta ▫Narrowing in the pulmonary arteries ("Williams Syndrome Association")

12. Characteristics that Resolve Themselves Hypercalcemia (elevated blood calcium levels) Feeding Problems Irritability Hyperacusis (Sensitive Hearing) ▫Certain frequency can be painful or startling ("Williams Syndrome Association")

13. Characteristics-Abnormalities Dental ▫Small, widely spaced teeth ▫Abnormal bite or tooth shape Kidney Musculoskeletal Problems ▫Low muscle tone and joint laxity ▫Joint stiffen with age Hernias ("Williams Syndrome Association")

14. Characteristics-Socially Social Friendly Endearing Unafraid of strangers Interested in Music Strength- Expressive Language skills and Politeness ("Williams Syndrome Association")

15. Diagnosis Present at birth, but not noticed until later ▫After they miss several milestones (" Encyclopedia of Children's Health")

16. Developmental Delays/ Learning Disabilities Mild to severe learning disabilities and cognitive challenges Milestones achieved later than “normal”: ▫Walking ▫Talking ▫Toilet training Easily distracted- ADD Develop “Strengths and weaknesses” ("Williams Syndrome Association")

17. Demographics 1 in 10,000 20,000-30,000 75% of those with Williams Syndrome have LD ▫50% of those with WS also are diagnosed with ADD/ADHD Most require full-time care 50% of passing it on ▫But is spontaneous as well ("Williams Syndrome Association") ("PubMed Health")

18. WS and other Disabilities ("Understanding Williams Syndrome")

19. Treatment No cure, but… ▫Avoid taking extra calcium and Vitamin D ▫Treat high levels of blood calcium ▫Physical Therapy ▫Developmental and Speech Therapy No way to prevent it, but… ▫Prenatal test ("PubMed Health")

20. Implications Medical care Early intervention Set schedules, explanations, motivation Spatial relations, numbers, abstract reasoning As adults: ▫Supportive housing ▫Volunteer or work ("Williams Syndrome Association")

21. Resources http://www.williams-syndrome.org/ ▫Williams Syndrome Association 570 Kirts Boulevard Suite 223 Troy Michigan 48084 1-800-806-1871 http://www.mdjunction.com/williams- syndromehttp://www.mdjunction.com/williams- syndrome ▫Online Support Group ("Williams Syndrome Association")

22. Resources Williams Syndrome Changing Lives Foundation ▫http://www.wschanginglives.org/http://www.wschanginglives.org/ ▫PO Box 76021 ▫ St. Petersburg, Florida 33734 ("Williams Syndrome Changing Lives Foundation")

23. Family of Hope http://www.wsfamilyofhope.org/ 832-884-4098 Educational Information Teachers and Therapists Area Representatives ("Family of Hope")

24. ART ("Family of Hope")

26. Resources Madisons Foundation ▫P.O. Box 241956 Los Angeles, CA 90024 ▫http://www.madisonsfoundation.org/http://www.madisonsfoundation.org/

27. Works Cited "Epicanthal fold." AllRefer.com. N.p., 19 2012. Web. 19 Oct 2012.. "Genetics quiz II." Study Blue. STUDYBLUE INC., n.d. Web. 19 Oct 2012.. Grip, Andres. "Williams syndrome." Mun-H-Center. Anders Grip, 13 2012. Web. 19 Oct 2012.. "Hope is an Open Heart." Family of Hope. Family of Hope, n.d. Web. 17 Oct 2012..

28. Works Cited K., Haley. "Genetic Disorders: Williams Syndrome." Genetic Disorders. N.p.. Web. 17 Oct 2012.. 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- Pike, Steve. "Williams Syndrome." PB Works. N.p.. Web. 17 Oct 2012.. 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..

29. Works Cited "What is Williams Syndrome?." Williams Syndrome Association. Williams Syndrome Association. Web. 17 Oct 2012.. "Williams syndrome behavior profile- ADHD." Understanding Williams Syndrome. N.p., 16 2012. Web. 19 Oct 2012.. "Williams syndrome." Encyclopedia of Children's Health. Advameg, Inc., n.d. Web. 19 Oct 2012..

30. 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.. "Williams syndrome." Genetics Home Reference: Your Guide to Understanding Genetic Conditions. N.p., 15 2012. Web. 17 Oct 2012.. "Williams Syndrome." PubMed Health. National Center for Biotechnology Information, U.S. National Library of Medicine, 14 2011. Web. 17 Oct 2012..