Pallister-Killian Syndrome

Pallister-Killian Syndrome

OVMS Empathy Training

What is PKS?

• Pallister Killian Syndrome happens randomly and for no reason; it is extremely rare.

• There are under 200 diagnosed cases of PKS in the world [but may be as many as 2,000 undiagnosed].

• Pallister Killian Syndrome was discovered by Dr. Phillip Pallister in Boulder, MT.

What are the characteristics of someone with PKS?

• extremely weak muscle tone (hypotonia),
• coarse face,
• sparse scalp hair at birth,
• high arched palate,
• hypopigmentation,
• cognitive and developmental delays, and
• diaphragmatic hernias

Can PKS kids have all the symptoms?

Diaphragmatic hernia

What do we mean by "developmental delays?"

Hypotonia

Facial features of PKS

• Developmental delays usually result from intellectual disability.

• Diaphragmatic hernia is a hole in the muscle that separates the abdomen from the chest cavity (diaphragm).

hypopigmentation

• Speech is often limited or absent in people with PKS.

• Hypotonia is extremely weak muscle tone.
• Most PKS babies have a significant form of hypotonia.

• This can allow the stomach and intestines to move into the chest, where they can crowd the developing heart and lungs.

• Many PKS kids will never learn how to walk, talk, or feed themselves.

• This can be life-threatening.

• PKS kids will likely never learn bowel control; so they'll need to wear diapers for their entire life.

cleft palate

What happens with hypotonia?

• high, rounded forehead
• broad nasal bridge
• short nose
• widely spaced eyes
• low set ears
• rounded cheeks
• wide mouth
• thin upper lip
• large tongue
• opening in roof of mouth (cleft palate)
• high arched palate

• Due to the spectrum of mosaicism, some PKS kids can learn how to walk, talk, and even learn some small amount of independence.

• This can cause a number of problems during infancy, including difficulty breathing and problems with feeding.

sparse scalp hair

How does someone get PKS?

• PKS is a result of an abnormality on chromosome 12.
• Called an isochromosome 12p: individuals have an extra partial copy. This partial copy has 2 identical arms instead of one long (q) and one short (p) arm.

How does it happen?

• Just like other genetic abnormalities, the chromosomal change occurs at random in the early stages of fetal development.

• example: Down Syndrome, cystic fibrosis, and hundreds of others
• It occurs at random; there's nothing people do to cause it to happen.

PKS Survival and Life Span

• Prognosis is usually poor. Many PKS kids don't survive until adulthood.
• Death may occur due to complications from illness.
• As kids get older, their facial features become more apparent and they farther behind developmentally.

Treatment measures include:

~breathing aids (immediately after birth)

~prompt surgery (diaphragmatic hernia)

~use of hearing aids

~surgical procedures/braces for spine alignment

~correctional surgery on hand/feet abnormalities

~medication for seizures

~therapy

~medical examination/screening

What does PKS do for kids with Pallister Killian?

If the complications are severe, it may be fatal.

Growth from child to adult gradually reveals severity and extent of condition.

Mobility is affected in most cases, requiring walking aids and supportive footwear.

Most individuals suffer from severe speech, hearing, and learning disabilities.

Normally, lifelong medication with supportive care and therapy is required.

• PKS Foundation covers some costs for families, such as travel expenses to/from care, funding research, etc.
• They also hold annual conferences for families around the world to help educate parents with PKS kids.
• PKSKids.net provides medical information, connections to doctors, and connections to other families.
• PKS is being closely researched by Children's Hospital of Pennsylvania and the University of Utah.
• PKS will honor what we want any donations to go toward.

Diagnosing PKS

• Women can sometimes detect PKS in their unborn baby by amniocentesis. However, sometimes even this produces a false negative.
• After birth, diagnosis can be made by a buccal smear or a chromosomal test called a DNA microarray. DNA tests are by far the most accurate way to diagnose PKS, but may not always be available to families looking for answers.

Mosaicism

• the severity of the child's condition is dependent upon how many cells are affected. The more cells, the more severe the defects.

Everyone has goals...

• Dutch's parents are working very hard to teach Dutch to learn how to stand.
• She can now feed herself in small amounts.
• She's learning how to manipulate a standing wheel chair.

Dutch's Story: A Personal Story of a PKS Kid

• Dutch is now 7 years old. She lives in Sacramento, CA.
• Dutch was diagnosed shortly after birth.
• She will never "get better," but she can learn some of the things that we take for granted.

What's next for Dutch?

• Dutch's family is incredibly supportive; even her big brother Merik is involved in teaching kids about PKS.
• She has recently learned how to scoot across the floor and enjoys her new mobility.
• Dutch is currently working on standing.
• Someday, she hopes to master moving around confidently in her wheelchair.

Learning from those with disabilities

• Working and playing with kids like Dutch teaches us empathy, respect, and patience.
• Support them by spreading what you've learned.
• Encourage others to treat them with respect and include them in their everyday activities.

Join Mrs. Mac for a Party for PKS

Tuesday, November 29 during Workshop

"Wear Purple for PKS"

• Mrs. Mac will buy the pizza
• A small donation (even change from your lunch money!) would be great. Any money collected will go to PKS, but is never required.
• We'll make a card for Dutch to keep encouraging her!
• If you want to bring food, go to MyConnect to sign up--that way we don't have tons of the same stuff.
• We'll take a team photo to send to Dutch.
• Remember, this is voluntary. If you are not up for participating, no big deal. Join us for pizza to celebrate your health!