Download Prader‐Willie Syndrome - Harlem Children Society


What
is
prader‐willi
syndrome?
Prader‐Willi
syndrome
is
a
rare
disorder
present
at
birth
that
results
in
a
number
of
physical,
mental
and
behavioral
problems.
A
key
feature
of
Prader‐Willi
syndrome
is
a
constant
sense
of
hunger
that
usually
begins
after
the
first
year
of
life.
People
with
this
syndrome
eat
a
lot
and
have
trouble
controlling
their
weight.
Prader‐Willie
Syndrome
By:Ndeye
Magatte
Kane
Bronx
Academy
of
health
careers
BCC
summer
2009
bioinformatics
workshop
The
symptoms
of
pws:
 Almond‐shaped
eyes
 Delayed
motor
development
 Floppy
newborn
infant
 Insatiable
appetite,
food
craving
 Irregular
areas
of
skin
that
look
like
bands,
stripes,
or
lines
 Narrow
bifrontal
skull
 Rapid
weight
gain
 Skeletal
(limb)
abnormalities
 Slow
mental
development
 Undescended
testicles
in
the
male
infant
 Very
small
hands
and
feet
in
comparison
to
body
The
treatments
and
drugs:
The
causes
of
pws:
Prader‐Willi
syndrome
is
a
genetic
disorder,
a
condition
caused
by
an
error
in
a
gene
or
genes.
Although
the
exact
genes
responsible
for
Prader‐
Willi
syndrome
haven't
been
identified,
the
problem
is
known
to
lie
in
a
particular
region
of
chromosome
15.
With the exceptions of genes related to sex
characteristics, all genes come in pairs, one copy
inherited from your father (paternal gene) and
one copy inherited from your mother (maternal
gene). For most types of genes, if one copy is
"active," or expressed, then the other copy is
also expressed. However, some types of genes
act alone. In other words, it's normal with
certain genes for the paternal gene to be
expressed and the maternal gene to be "silent."
Therefore, if there's an error with the paternal
gene, that piece of genetic information is
essentially missing.
Growth
hormone
treatment.
Human
growth
hormone
stimulates
growth
and
influences
The
risk
factor
of
pws
the
body's
conversion
of
food
into
energy
Defective
or
missing
portions
of
(metabolism).
Some
studies
have
suggested
paternal
genes
responsible
for
Prader‐
that
growth
hormone
treatment
in
children
Willi
syndrome
usually
occur
with
Prader‐Willi
syndrome
helps
increase
randomly.
This
means
that
in
most
growth
and
decrease
body
fat,
but
the
long‐
instances,
Prader‐Willi
syndrome
can't
term
effects
of
growth
hormone
treatment
aren't
known.
A
doctor
who
treats
hormonal
be
prevented.
However,
in
a
small
number
of
cases,
a
genetic
mutation
disorders
(endocrinologist)
can
help
inherited
from
the
father
may
cause
determine
whether
your
child
would
benefit
Prader‐Willi
syndrome.
from
growth
hormone
treatment.
If
you
have
a
child
with
Prader‐Willi
Healthy
diet:
a
nutritionist
may
help
you
syndrome
and
would
like
to
have
develop
a
healthy,
reduced-calorie diet
another
baby,
consider
seeking
genetic
to keep your child's weight under
counseling.
A
genetic
counselor
may
help
determine
your
risk
of
having
control while ensuring
another
child
with
Prader‐Willi
proper nutrition.
syndrome.
complications
Type
2
diabetes.
Type
2
diabetes
is
high
blood
sugar
level
due
to
your
body's
inability
to
use
insulin
efficiently.
Insulin
plays
a
vital
role
in
making
blood
sugar
(glucose)
—
your
body's
fuel
—
available
to
your
cells.
Obesity
significantly
increases
the
risk
of
diabetes.
Heart
disease
and
stroke.
People
who
are
obese
are
more
likely
to
have
high
blood
pressure,
hardened
arteries,
high
cholesterol
and
other
factors
that
can
lead
to
heart
disease
and
stroke.
Arthritis.
Excess
weight
can
cause
the
bone
and
cartilage
of
joints
to
wear
down,
resulting
in
osteoarthritis.
Sleep
apnea.
This
sleep
disorder
is
characterized
by
pauses
in
breathing
during
sleep.
The
disorder
can
cause
daytime
fatigue,
high
blood
pressure
and,
rarely,
sudden
death.
People
with
Prader‐Willi
syndrome
may
have
sleep
apnea
or
other
sleep
disorders
even
if
they
aren't
obese,
but
obesity
can
worsen
sleep
problems.
Acknowledgment
 GOD
 MS.
MCMAHON
 DR.
BRENNAN
 ERIC
KONADU
 DR.
SAT
 HCS
 BRONX
COMMUNITY
COLLEGE