PRADER-WILLI

SYNDROME
Genetic Disorder
Project by Savannah
Kirk and Brooke
Schwartz
 The Prader-Willi Syndrome has a
chromosomal mutation/ deletion.
There could be a deletion in the
paternal (father) chromosome 15 or
by maternal (mother) uniparental
disomy.

THE CAUSE Uniparental Disomy is when 2

OF PRADER- copies come from the same
parent, instead of one coming
WILLI from each.

The deletion of chromosome

15 is much more common in
this syndrome.
 HOW DO PEOPLE
INHERIT THIS
SYNDROME?
 Prader-Willi Syndrome is both
dominant and recessive. Even
though it is more common to be
recessive; there is still a chance
for it to be dominant.
 Affected people typically
have no history of the disorder,
but its very rare to inherit it
from family members.
 Since this syndrome can be
inherited this means it is both
autosomal, and sex-linked
PICTURES OF
SCIENCE CONCEPTS

This Photo by Unknown Author is licensed under CC BY-SA

SYMPTOMS
 Floppiness (AKA
Hypotonia)
 Will experience puberty
later than normal.
Have several distinctive
features
 Increased appetite
Have mild to moderate
learning difficulties with a
low IQ.
 Usually much shorter than
other children of their own age.
 Have difficult behavior traits
 Will persistently pick their
skin
 They have sleeping problems
 Has a high tolerance for pain.
 Can develop scoliosis.
 Other health problems
PARTICULAR GROUPS
WHO ARE AT HIGHER
RISKS FOR THE
DISORDER
 Infants, because
as they are
developing in the
womb they could
have a deletion of
chromosome 15 or
a double of
chromosome 15
from the mom.
DIAGNOSIS
 Genetic testing can be used to check the
chromosomes in a sample of your child's blood
for the symptoms known to cause Prader-Willi
syndrome.
 A checklist of symptoms known to be typical
of Prader-Willi syndrome is also used to
identify which children should be tested.
 If your kids scores a lot of points from the
major criteria it is strongly suspected and you
should take them in for testing.
 PROGNOSIS
 If the person who has Prader-Willi
Syndrome can maintain their weight
and other complications that the
syndrome brings they can live a
average life. But, they will need
medical supervision their entire life.
 Some patients will only live up to
40 years old if they can not maintain
their health
 The people with this syndrome will
always have to keep up with diet,
physical, mental, and behavioral
therapy.
SCREENING/ PREVENTION
PWS can not be prevented. The diagnosis is confirmed by a
blood test called “methylation analysis’’ which detects 99% of
cases
There are 3 major genetic changes that can cause this
syndrome
Fish: this determines if there is deletion subtype (most
common)
Chromosome Microarray: detects many cases of
uniparental disomy 15
VPD: unique test that requires blood from the patient and
both biological parents for accurate interpretation
 TREATMENT/TREATMENT COSTS
There is no cure to this syndrome, but many  Physical Therapy :
patients will benefit from a supervised diet. 70 – 150 $ a visit which
 Patients have to take care of themselves would be 350- 750 a week
including diets and physical activity (aerobic
activity for 20-30 min, 5 days a week)  Mental Therapy : 80–
120$ a visit which would
 Also avoid activities that can injure muscle
groups or joints be 400- 600$ a week
 Hormone Medication and Common Drugs  Behavioral Therapy –
90-100$ a visit which
 Physical Therapy- helps restore muscle strength
and function
would be 450- 500$ a
week
 Behavioral Therapy – focuses on modifying
behavior associated with Psychological distress
LOCAL AND
NATIONAL
ASSOCIATIONS
 Prader-Willi
California
Foundation
 PRADER-WILLI
SYNDROME
ASSOCIATION
 National
organizations for
rare disorders
 EFFECTS ON FAMILY
 Its emotional because our kid
gets bullied at school and
people mentally and physically
hurt him and its very saddening.
 He’s not very social and
doesn’t hang around many
people because he’s scared
people will say stuff about him.
 Financially it is very expensive
for all of his secessions so he can
live a normal teenage life as
much as possible.
PICTURE OF SOMEONE
WHO HAS THE
DISORDER
 SOURCES
NORD: https://rarediseases.org/rare-
diseases/prader-willi-syndrome/
PCWF: https://pwcf.org/
PWSAUSA: https://www.pwsausa.org/
NHS: https://www.nhs.uk/conditions/prader-
willi-syndrome/symptoms/
NIH:
https://ghr.nlm.nih.gov/condition/prader-willi-
syndrome
 FWPR: https://www.fpwr.org/prader-willi-
syndrome-diagnosis-treatments