1. PHELAN-MCDERMID SYNDROME

2. THINGS TO GO OVER: History -The discovery of Phelan-McDermid syndrome Etiology -What causes this syndrome? How is it obtained? Symptoms -Attributes accredited to the syndrome Diagnosis -Knowing the syndrome based on it’s symptoms Treatment -How to make the syndrome more manageable for the patient Prognosis - How the disease will develop, and if it’s curable

3. HISTORY OF PMS Phelan-McDermid syndrome’s (PMS) first patient was know of in 1985 but the syndrome was only officially discovered in 1998. The syndrome was identified by two women named Doctor Katy Phelan and Doctor Heather McDermid. The syndrome was named after the two women.

4. HISTORY OF PMS Doctor Katy Phelan -Co-identified PMS -Works for the Phelan-McDermid syndrome foundation - Established a PMS support group

5. HISTORY OF PMS Doctor Heather McDermid -Works in biological sciences -Co-identified PMS -Is a professor at the Department of Medical Genetics in Canada

6. ETIOLOGY OF PMS The cause of Phelan-McDermid syndrome is from chromosome 22 When a patient has PMS, it’s caused by the rearrangement or absence of the “q terminal end” or “long arm end” of the 22 nd chromosome Normal chromosomes: Chromosomes from PMS:

7. ETIOLOGY OF PMS Long arm of a chromosome: The long arm of a chromosome is termed the q arm. All human chromosomes have 2 arms, the p (short) arm and the q (long) arm. They are separated from each other only by a primary constriction, the centromere, the point at which the chromosome is attached to the spindle during cell division. The symbol "p" stands for "petit", small in French, while "q" was chosen merely because it was the next letter in the alphabet

8. ETIOLOGY OF PMS Not usually inherited from parents although if you have it you can pass it to your children Usually happens in the development of reproductive cells or in early fetal development

9. SYMPTOMS Many of the symptoms are similar to that of common autism Some of the symptoms: - Metal delay - Intellectual delay - Hypotonia (decreased muscle tone) -Seizers A lot of the symptoms aren’t distinctly visible, most have to do with the brain The patient is born with the syndrome

10. DIAGNOSIS Special test called FISH (fluorescence in situ hybridization) The reason for a special test is because the visible symptoms are so similar to autism, that it narrows down what syndrome the person has There’s also a special test because sometimes The chromosome deletion difficult to see by routine chromosome studies

11. DIAGNOSIS In FISH, a DNA probe that is specific for the tip of the long arm of Chromosome 22 is used to see if the 22q13 segment is present or absent If the patient has Phelan-McDermid Syndrome, the 22q13 region will be present on the normal chromosome but absent on the deleted chromosome

12. TREATMENT Treatment varies for different people Basic treatment options for common symptoms: -Physical therapy -Occupational therapy -Speech therapy -Vision therapy

13. PROGNOSIS You can’t necessarily recover from PMS The problems that come with PMS such as vision problems and speech problems can be improved through therapy, but the syndrome itself can’t be cured The syndrome doesn’t usually get worse with time, it usually stays the same and can be manageable with proper treatment

14. SOURCES Websites: http://www.rarechromo.org/information/Chromosome%2022/22q13%20deletions%2 0Phelan%20McDermid%20syndrome%20FTNW.pdf http://www.rarechromo.org/information/Chromosome%2022/22q13%20deletions%2 0Phelan%20McDermid%20syndrome%20FTNW.pdf https://parentingspecialneeds.org/article/what-is-the-phelan-mcdermid-syndrome/ http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3366702/ http://blog.autismspeaks.org/2011/01/11/the-phelan-mcdermid-syndrome- foundation/ http://blog.autismspeaks.org/2011/01/11/the-phelan-mcdermid-syndrome- foundation/ http://www.webmd.com/children/phelan-mcdermid-syndrome https://22q13.org/j15/index.php?option=com_content&view=article&id=53&Itemid= 28 https://22q13.org/j15/index.php?option=com_content&view=article&id=53&Itemid= 28 http://ghr.nlm.nih.gov/condition/22q133-deletion-syndrome http://www.22q13.org/j15/index.php?option=com_contact&view=contact&id=25% 3Adr-katy-phelan&catid=46%3Aboard-of-directors&Itemid=114 http://www.22q13.org/j15/index.php?option=com_contact&view=contact&id=25% 3Adr-katy-phelan&catid=46%3Aboard-of-directors&Itemid=114

15. SOURCES Pictures: https://www.gofundme.com/dmjq4 https://spectrumnews.org/news/first-ever-phelan-mcdermid-meeting-has-its-eureka- moments/ https://spectrumnews.org/news/first-ever-phelan-mcdermid-meeting-has-its-eureka- moments/ http://ugglansno.se/bi9-genetik/ http://22q13.org/j15/index.php?limitstart=3 https://tulane.edu/som/hayward-genetics/faculty/katy-phelan.cfm http://www.medgen.ualberta.ca/en/AboutUs/Faculty/HeatherMcDermid.aspx https://commons.wikimedia.org/wiki/File:FISH_%28Fluorescent_In_Situ_Hybridization%29.jp g https://commons.wikimedia.org/wiki/File:FISH_%28Fluorescent_In_Situ_Hybridization%29.jp g http://buildncare.com/speech-therapy/ http://www.add-adhd.org/vision_therapy_FAQ.html http://zayedlab.apps01.yorku.ca/wordpress/?p=576