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PKS Kids

PKS Kids. A non-profit organization for those affected by Pallister-Killian Syndrome. What is Pallister-Killian Syndrome?.

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PKS Kids

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  1. PKS Kids A non-profit organization for those affected by Pallister-Killian Syndrome www.pkskids.net

  2. What is Pallister-Killian Syndrome? Pallister-Killian Syndrome or PKS is a rare disorder which occurs for no known reason. It involves a double duplication of the short arm of chromosome 12. It is also a mosaicism. This means that only a certain number of cells are affected by the extra parts of the chromosome. Some cells are normal. www.pkskids.net

  3. Chromosome 12 This is an actual FISH from an amnio. Note the 2 short arms of chromosome stuck together. www.pkskids.net

  4. This is an example of a karotype (chromosome make-up) of a person with Pallister-Killian Syndrome 47, XY, +i (12) (p10) [2] / 46 , XY [18] 47  means # of chromosomes tested, male (X,Y) +i (12)  means plus an Isochromosome of chromosome 12 (an extra chromosome made up of two copies of one arm of a chromosome but lacking copies of the other arm) (p10) means p-the short arm of chromosome, 10 means the band at which is stopped [2] means that two cells had this make up 46 means # of chromosomes [18] means that 18 cells had this make up PKS Karotype www.pkskids.net

  5. Other names for PKS • Killian/Teschler-Nicola Syndrome • Pallister Mosaic Syndrome • Tetrasomy 12p • Killian Syndrome • Teschler-Nicola/ Killian Syndrome www.pkskids.net

  6. Who is affected by PKS? • PKS knows no boundaries. People around the world of all different ethnic backgrounds can have children with PKS. • It is a genetic condition which happens during conception. It is not hereditary or environmental. www.pkskids.net

  7. How common is PKS? PKS is currently known to affect less than 200-300 children in the world. Some doctors believe the rate of incidence should be as high as 2,000 cases in the U.S. alone. So, why aren’t there more cases…? www.pkskids.net

  8. We believe there are cases out there that need more testing to ensure an accurate diagnosis! Testing is done via skin biopsy, blood work or a buccal smear (cells removed from the inside of one’s cheek). If nothing shows in the blood, often doctors will leave it at that. However, often, affected cells leave the bloodstream after just a few days leaving no trace of anything wrong. If the child appears to have a disorder, always follow up with a skin biopsy or a less-invasive buccal smear. Testing and Diagnosing www.pkskids.net

  9. Right now, many doctors don’t know much about PKS. The information in medical documents and the internet is very outdated. Doctors tell families what they know but that information may no longer be accurate. PKS Kids is trying to change that through educational materials and opportunities. One thing is certain; all these children are unique. Prognosis www.pkskids.net

  10. The Children • Many parents have heard it: PKS children will never walk or talk. We can tell you differently! Over half of the children in a PKS support group walk. Slightly less are verbal, but still others communicate through sign language. • Will they see their 10th birthday? Yes, we know of children who are 14, 18 and even in their 20’s. One young man is 31 years old! www.pkskids.net

  11. The Children Symptoms in these children are just as varied. • Most suffer from hearing and vision loss. • Most have cognitive delays • Nearly all have low muscle tone. • Some have problems with their heart or other organs. www.pkskids.net

  12. The Children • Some have weak lungs and are susceptible to colds and pneumonia. • Many children suffer from seizures • Some children are tube-fed • Some children are never able to sit up, walk or talk • Most PKS children look very much alike! www.pkskids.net

  13. Doctors Most PKS children see the following at least once: • Neurologist • ENT • Geneticist • Audiologist • Developmental Pediatrician www.pkskids.net

  14. Therapists PKS children typically receive the following therapies: • Occupational • Physical • Speech • Hearing • Vision www.pkskids.net

  15. Physical Characteristics • Unique pattern of hair growth. Sparse at temples and back of head. Usually fills in by age 5 • Prominent high forehead • Low set ears • Wide, flat nasal bridge • Strabismus • High arched palate • Protruding lower lip • Streaks of hyper- and hypo- pigmentation • Accessory nipples • Displaced anus www.pkskids.net

  16. Faces of PKS www.pkskids.net

  17. Faces of PKS www.pkskids.net

  18. Faces of PKS www.pkskids.net

  19. PKS Kids • By now, we’re sure you’ve realized the need to educate the public and the medical professionals about PKS. The need to provide updated information and provide hope to families of PKS patients. PKS Kids was started in 2006 by parents of children with PKS. They are striving to provide education and awareness so these children are diagnosed as soon as they are born. Early diagnosis means early treatment and therapies! www.pkskids.net

  20. PKS Kids How can you help?Our organization is non-profit and relies strictly on donations and grants to provide resources to educators and families. If you are able to make a donation or hold a fundraiser, please visit our website www.pkskids.net for more information. www.pkskids.net

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