Prader – Willi Syndrome

2-year-old girl
24 years later
She is 26, 147 cm height, weight 214 kg.
3-year-old
boy
A man whose medical condition left him weighing 210kg has been
told by doctors he could die if he does not have both his legs
amputated.
What is Prader –Willi
Syndrome?

Prader-Willi syndrome is genetic

syndrome that affects one in every
12,000-15,000 people of both
sexes and all races and ethnic
groups.
Causes

 a gene missing on part of chromosome 15.

 uniparental disomy, sporadic mutations,
chromosome translocations, gene deletions
 missing the genetic material on part of the
father's chromosome = two copies of the
mother's chromosome 15.
 one of first discovered imprinting disorders of
human!
Comparison of PWS & AS
Risk of inheritance
The risk to the sibling of an affected child of
having PWS depends upon the genetic
mechanism which caused the disorder:
<1% if the affected child has a gene deletion or
uniparental disomy
up to 50% if the affected child has a mutation of the
imprinting control region
up to 25% if a parental chromosomal translocation
Clinical Features And Signs
In Utero:
 Reduced fetal movement

 Frequent abnormal fetal position

Clinical Features And Signs
At Birth:
 Often breech or caesarean births
 Lethargy
 Hypotonia
 Feeding difficulties (due to poor muscle tone
affecting sucking reflex)
 Difficulties establishing respiration
 Hypogonadism
Hypotonia
Clinical Features And Signs

Infancy:
 Failure to thrive (continued feeding difficulties)
 Delayed milestones/intellectual delay
 Excessive sleeping
 Strabismus
 Scoliosis (often not detected at birth)
Clinical Features And Signs

Childhood:
 Speech delay
 Poor physical coordination
 Hyperphagia (over-eating) from age 2 - 4
years.
Note change from feeding difficulties in
infancy
 Excessive weight gain
Clinical Features And Signs

Adolescence:
 Delayed puberty
 Short stature
 Obesity
 Extremely flexible
 Clinical Features And Signs

Adulthood:
 Infertility (males and females)
 Hypogonadism
 Sparse pubic hair
 Obesity
 Hypotonia
 Learning disabilities/borderline intellectual
functioning (but some cases of average
intelligence)
 Proneness to diabetes mellitus
 Extremely flexible
 Clinical Features And Signs

General physical appearance (adults)

 Prominent nasal bridge
 Small hands and feet
 Soft skin, which is easily bruised
 Excess fat, especially in the central portion of the body
 High, narrow forehead
 Almond shaped eyes with thin, down-turned lips
 Light skin and hair relative to other family members
 Lack of complete sexual development
 Always picking at their skin
 Stria
 Delayed motor development
What are the major health concerns for people with
Prader-Willi?

Severe obesity is the major medical problem

 Obesity-related problems—including diabetes, high

blood pressure, chronic venous insufficiency (leading to

ulcers in legs and feet), cellulitis, and hypoventilation
 Strabismus (crossed eyes) may require surgical

correction
 Scoliosis

 Osteoporosis can occur earlier than usual and can cause

fractures
 Sleep disturbances and sleep apnea

 Bedwetting

 Dental problems—including soft tooth enamel, thick

saliva, poor oral hygiene, teeth grinding

Coping with PWS
WEIGHT PROBLEM

 A balanced, low calorie diet with vitamin and calcium

supplements
 Plenty of exercise
 The subject's food should literally be kept under lock
and key
 No medication or surgical intervention has been found
to eliminate the need for strict dieting
SHORT STATURE & ABNORMAL BODY COMPOSITION

Growth hormone is a common medication used in PWS.

It increases muscle mass and function, may allow for a
higher daily calorie intake, and helps kids grow taller.

HYPOGONADISM

Sex hormone replacement can lead to more normal

physical development in puberty.
Developmental delay
Problems with behavior regulation
Other behavior problems: temper tantrums, violent outbursts,
obsessive/compulsive behavior, stealing, lying and being
argumentative, rigid, manipulative and possessive.

Behavioral management
daily routines, structure, firm rules and limits,
and positive rewards work best.
Psychotropic medications as a LAST RESORT if
behavior management programs do not work.
 Physical and occupational therapy help
promote motor development along with
growth hormone.

 Speech and language therapy may help with

speech delays.

 Early intervention and special education can

help your child reach their full potential
Summary
The features:
o obesity
o cognitive impairment
o behavior problems
o poor muscle tone
o hypogonadism [less than normal sex hormones level]

Treatment:
NO CURE
o DECREASING THE BODY FAT LEVEL
o Hormone supplementation
Reference
 http://www.nlm.nih.gov/medlineplus/ency/article/001605.
htm
 http://ghr.nlm.nih.gov/condition=praderwillisyndrome
 http://www.aafp.org/afp/20050901/827_f2.jpg
 http://medicalimages.allrefer.com/large/hypotonia.jpg
 http://www.mgm.ufl.edu/images/driscoll/GH%20in%20PWspict
gif
 http://www.childsdoc.org/spring2000/charrowfig5.jpg
 http://d.wiadomosci24.pl/g2/38/d2/78/36599_1186120322_
1a26_p.jpeg
THE END
Thank you