Presentation on theme: "4/14/2017 PKS Kids A non-profit organization for those affected by Pallister-Killian Syndrome www.pkskids.net www.pkskids.net."— Presentation transcript:
1 4/14/2017PKS KidsA non-profit organization for those affected by Pallister-Killian Syndrome
2 What is Pallister-Killian Syndrome? 4/14/2017What 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.
3 4/14/2017Chromosome 12This is an actual FISH from an amnio. Note the 2 short arms of chromosome stuck together.
4 4/14/2017PKS KarotypeThis is an example of a karotype (chromosome make-up) of a person with Pallister-Killian Syndrome47, XY, +i (12) (p10)  / 46 , XY 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 means that two cells had this make up46 means # of chromosomes means that 18 cells had this make up
5 Other names for PKS Killian/Teschler-Nicola Syndrome 4/14/2017Other names for PKSKillian/Teschler-Nicola SyndromePallister Mosaic SyndromeTetrasomy 12pKillian SyndromeTeschler-Nicola/ Killian Syndrome
6 4/14/2017Who 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.
7 So, why aren’t there more cases…? 4/14/2017How common is PKS?PKS is currently known to affect less than 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…?
8 Testing and Diagnosing 4/14/2017Testing and DiagnosingWe 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.
9 One thing is certain; all these children are unique. 4/14/2017PrognosisRight 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.
10 4/14/2017The ChildrenMany 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!
11 The Children Symptoms in these children are just as varied. 4/14/2017The ChildrenSymptoms in these children are just as varied.Most suffer from hearing and vision loss.Most have cognitive delaysNearly all have low muscle tone.Some have problems with their heart or other organs.
12 4/14/2017The ChildrenSome have weak lungs and are susceptible to colds and pneumonia.Many children suffer from seizuresSome children are tube-fedSome children are never able to sit up, walk or talkMost PKS children look very much alike!
13 Doctors Most PKS children see the following at least once: Neurologist 4/14/2017DoctorsMost PKS children see the following at least once:NeurologistENTGeneticistAudiologistDevelopmental Pediatrician
14 Therapists PKS children typically receive the following therapies: 4/14/2017TherapistsPKS children typically receive the following therapies:OccupationalPhysicalSpeechHearingVision
15 Physical Characteristics 4/14/2017Physical CharacteristicsUnique pattern of hair growth. Sparse at temples and back of head. Usually fills in by age 5Prominent high foreheadLow set earsWide, flat nasal bridgeStrabismusHigh arched palateProtruding lower lipStreaks of hyper- and hypo- pigmentationAccessory nipplesDisplaced anus
19 Early diagnosis means early treatment and therapies! 4/14/2017PKS KidsBy 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!
20 4/14/2017PKS KidsHow 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 for more information.