PKS Kids

1
PKS Kids

• A non-profit organization for those affected by
  Pallister-Killian Syndrome

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.

3
Chromosome 12

• This is an actual FISH from an amnio. Note the 2
  short arms of chromosome stuck together.

4
PKS Karotype

• 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

5
Other names for PKS

• Killian/Teschler-Nicola Syndrome
• Pallister Mosaic Syndrome
• Tetrasomy 12p
• Killian Syndrome
• Teschler-Nicola/ Killian Syndrome

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.

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 arent there more cases?

8
Testing and Diagnosing

• 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
  ones 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
Prognosis

• Right now, many doctors dont 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  the internet is very outdated.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
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
  20s. One young man is 31 years old!

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.

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!

13
Doctors

• Most PKS children see the following at least
  once
• Neurologist
• ENT
• Geneticist
• Audiologist
• Developmental Pediatrician

14
Therapists

• PKS children typically receive the following
  therapies
• Occupational
• Physical
• Speech
• Hearing
• Vision

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

16
Faces of PKS
17
Faces of PKS
18
Faces of PKS
19
PKS Kids

• By now, were sure youve 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
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.