Medical & Research Info
Seizure Study being done by Utah Pediatric Neurologist
PKS Kids is fortunate to be working with Dr. Francis Filloux in regard to seizure activity in our children. Attached is a survey that Dr. Filloux would like interested parents to complete and email or mail back to him. If you complete it in Word you may save and attach to an email. You may also print the PDF version and complete by hand and mail to him.
Dr Filloux's contact information is:
Francis M. Filloux, MD
Division Chief, Pediatric Neurology
University of Utah School of Medicine
Francis.Filloux@hsc.utah.edu
801-587-7466
Take the survey! Click a version below.
Word Version
PDF Version
Please let us know if you have any questions!
Medical Information and Printables
Pallister-Killian Syndrome is a unique diverse syndrome that raises lots of questions about care, symptoms and conditions.
Below is some information you can print and use at school, doctor’s offices and hospitals and for therapists, family & friends. Several open in Adobe Reader. Download Adobe here for free if you don't currently have it on your computer.
Downloads:
PowerPoint Presentation: This PowerPoint is an excellent overview of Pallister-Killian Syndrome and the beginning of PKS Kids. You may print it or save it to a cd-rom (Downloading this file takes a long time, please be patient).
Brochure: This brochure is perfect for fundraising efforts and for medical professionals who may not have encountered PKS before.
Clinical Evaluations: This is a list of recommended clinical evaluations for children who have been diagnosed with Pallister-Killian Syndrome. It was put together by Dr. Ian Krantz, Geneticist at Children's Hospital of Philadelphia. Each child may produce different or additional symptoms or traits so more tests/exams may be required.
Luke, Simon, Sofia: Various flyers that show the face of PKS and a brief description of Pallister-Killian Syndrome.
Overview of PKS Characteristics - Features of Pallister-Killian Syndrome
UNIQUE pamphlet - Excellent resource from UNIQUE
RESEARCH INFORMATION
Grant/Research Letter
Note on life expectancy from Dr. Krantz
Clinical recommendations from Dr. Krantz.
Letter from Dr. Krantz
Soon we hope to be able to post the published research from doctors at Children's Hospital of Philadelphia (CHoP). In the meantime, here is a letter from Dr. Krantz describing their goals and how you can assist the research.
Sarah P study
Here is an exciting new study done by doctors in Australia.
NEW** In May PKS Kids made a donation to CHoP to assist with research of Pallister-Killian Syndrome.
Dear Mrs. Hettiger,
This is tremendous! Thanks so much for your generosity and emphasizing PKS Kids' commitment to research! These funds will be put to direct use in our project to identify the exact genes that are dysregulated (turned up or down) in kids with PKS as a result of the extra chromosome 12 material as well as to help establish a comprehensive clinical database. This will lay the groundwork towards identifying targets for what we hope will be eventual therapeutic options for kids with PKS. Your organization and your kids have been an inspiration to us in our work and we hope that our work will result in a better understanding and clinical outcome for individuals and families affected by PKS.
With deepest heartfelt gratitude from our team here at CHOP!
Sincerely,
Ian
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