Issues in Developmental Disabilities
Prader Willi Syndrome
Lecture Presenter:
Barb Dorn, RN, BSN
PWS Consultant, PWSA of WI, Inc.
Crisis Intervention Counselor, PWSA
Prader-Willi Syndrome Is About …
PEOPLE
Prader-Willi Syndrome
 PWS was first described in 1956 by
doctors, Prader, Labhart and Willi.
 It is a unique, very complex
developmental disability.
 It is caused by an abnormality on the
15th chromosome.
 The hypothalamus does not work
properly.
Outstanding Characteristics:
Learning problems (88% have
some degree of cognitive
limitation).
Behavior problems.
Insatiable appetite – the message
of fullness never reaches the
brain – they are always hungry.
Prevalence
Affects approximately 1:10,00015,000 live births.
Occurs equally in both males and
females.
Seen in persons of all races.
Most frequently occurring genetic
cause of obesity.
Most common genetic cause of
newborn hypotonia.
Stages
 Failure to Thrive.
 Weak muscle tone.
 Poor suck – special
feeding tubes and
techniques.
 Excessive
sleepiness.
 Poor growth and
development.
 Developmental
delays.
 Thriving too Well.
 Food preoccupation,
food seeking,
advancing to food
stealing.
 Weight gain.
 Behavior concerns.
 Speech and
language problems.
 Learning
challenges.
 Social skill deficits.
Physical Characteristics
 Hypotonia (poor muscle tone) –
developmental delays.
 Altered nutritional needs – initially
feeding difficulties; later weight gain
with food obsession and seeking.
 Hypogonadism – underdeveloped
genitalia and undescended testicles.
 Short stature, small hands and feet.
 Almond-shaped eyes
Hypotonia - Poor Muscle Tone
You can clearly
see the affects
of poor muscle
tone in this
infant with
Prader-Willi
syndrome. It is
most
pronounced in
the trunk area.
Genetics and Diagnostic Testing
 Clinical Criteria
 Early Years – primary way to
diagnose PWS.
 Today – used to assist clinican in
beginning diagnostic process to
determine if definitive testing is
indicated.
 Today – advances in genetic testing
make it possible to diagnose close to
100% of persons with PWS.
Genetics in Prader-Willi
Syndrome
• Every case of PWS
is due to the baby
failing to receive or
have active genes
from a specific
section of the
father’s
chromosome 15.
Genetic Forms of Prader-Willi
Syndrome
Paternal Deletion
• Approximately 70%
cases. Most
common.
• Part of chromosome
15 inherited from
child’s father – PWS
critical gene area –
is missing.
 Maternal
Uniparental Disomy
(UPD)
 Approximately 25% of
cases.
 Baby inherits both
copies of chromosomes
15 from on parent –
the mother.
Maternal = mother
Uniparental = 1
parent
Disomy = 2
chromosomes
Genetic Forms of Prader-Willi Syndrome
 Imprinting Defect
 Approximately 2% cases.
 Activity of genes is controlled
by a tiny imprinting center on
chromosome 15 – genes are
present but do not work.
 Can suddenly appear or may
have been passed down from
mother to father of child with
PWS.
 50-50 chance of having child
with PWS.
 Father’s siblings may also
carry this.
 Siblings who were not born
with PWS may carry imprinting
defect.
 Families should have genetic
counseling.
Andrew, Adam and Amanda
are all siblings born with
Prader-Willi syndrome.
Genetic Forms of Prader-Willi
Syndrome
Resource:
“Prader-Willi Syndrome”, Daniel Wattendorf, MAJ, MC, USAF and Maximillian Muenke MD,
American Family Physician Journal, Sept, 2005, Vol 72 No 5.
The HYPOTHALAMUS
Its Influence on
Prader-Willi Syndrome
Altered Functions in Hypothalamus
in Persons with PWS
 Main organ impacted by
PWS.
 Affects functioning:

Impaired hormone
production
 Growth Hormone
 Reproductive
Hormones



Disruption in Appetite
Control
Altered Regulation of
Autonomic Nervous
System
Poor Auditory Short
Term Memory
Hypothalamus
Altered Functions in Hypothalamus
in Persons with PWS
 Decreased Growth Hormone
 Accounts for short stature, poor
muscle tone, low metabolism and
low bone density.
 Helps regulate blood lipids –
increases risk of cardiovascular
disease.
 Many infants, children and adults
on GH therapy.
Altered Functions in Hypothalamus
in Persons with PWS
 Disruption In Appetite Control Center




Houses appetite control center.
Feeling of fullness never reaches brain.
May be mild to severe food drive.
Environmental supports to prevent
access to food – life saving.
 Abnormal Emotional Expression
 Helps with expression of anger and rage.
 May have extreme fluctuations.
Altered Functions in Hypothalamus
in Persons with PWS
 Altered Reproductive Hormones
 Few produce normal or near normal levels of
reproductive hormones.
 May start puberty but do not complete.
 Women may never menstruate and if they do – often
irregular. Some have normal menses.
 Men may start voice changes but do not complete.
 Often have early growth of pubic and under arm hair.
 Hormone replacement therapy used in some.
 Few, very rare cases where women with PWS have
conceived and given birth to a child.
 No documented cases where man conceived
offspring. Difficult to prove.
Altered Functions in Hypothalamus
in Persons with PWS
 Altered Regulation of Autonomic
Nervous System
 Temperature Regulation – Thermostat
housed in hypothalamus. Body
temperatures can elevate quickly. Fever
may not be present in illness.
 Water Balance – monitors and regulates
body fluids and production of antidiurectic
hormone.
 Sleep Pattern – research shows abnormal
sleep patterns. Many do not sleep well at
night.
The Impact of the Diagnosis
and Disability on the Family and
Person with
Prader-Willi Syndrome
Impact on Parents
 Grief – loss of
“normal” child.
 Fear and Worry
 About future
 About lack of
knowledge
 Challenge in balancing
needs of child, family
marriage.
 Greater appreciation
for achieving small
goals – celebrating
success and
accomplishments.
Impact on Parents
 Need to change most aspects of life:
 Parenting style – need to learn new
parenting skills
 Economics
 The way food is viewed in home and life.
 Need to live a more structured life style.
 Life long parenting
 Special estate planning.
Impact on Grandparents
 Grief – Grandparents
also experience feelings
of loss. Difficult to watch
their own child in pain.
 Need to change some of
the ways they may
“spoil” their grandchild.
 Often take on greater
role in supporting their
grandchild.
Impact on Siblings
 Early years – often do
not realize differences.
Playmates, role models.
 May mimic behaviors of
sibling with PWS – food
seeking, tantrums.
 May become jealous and
envious of attention
sibling receives. May
want to be disabled too.
Impact on Siblings
 As grow older, may have to make
changes and sacrifices to
accommodate PWS.
 May take on greater role in child care –
become more responsible and nurturing.
 Impacts comfort level in bringing friends
home – embarrassed by locked food and
unpredictable behavior.
 If sibling with PWS has outbursts at
school – often felt by other siblings.
Impact on Siblings
 Adult siblings often
take on more
responsibilities as
guardian and/or
executor of estate.
 Siblings of all ages
require special 1:1
time with parents
and family.
Impact on the Person
with Prader-Willi Syndrome
 Early years – often
do not realize
differences.
 May be included in
most activities.
 Needs close
attention to dietary
needs.
Impact on the Person
with Prader-Willi Syndrome
 Very loving, caring
youngsters. Friendly to
others – sometimes
too friendly.
 School age – social
skill deficits. Need to
learn social concepts
that peers may not
need to learn.
 Winning and fairness
can be problematic.
Impact on the Person
with Prader-Willi Syndrome
 As grows older – differences become more
evident to them.
 Often unhappy and angry about disability. Food
and diet impact all aspects of life. Want to be
like others.
 Food seeking and behavior outbursts make
friendships difficult to initiate and keep. Often
need assistance from parents and educators.
 Grieve loss of many life events – driver’s license,
independent dating, sports – may be able to do
with assistance.
Impact on the Person
with Prader-Willi Syndrome
 As adults, many grieve
loss of normal adult
developmental
milestones
 Want to date and
have close adult
relationship –
sometimes to
extreme degree.
 Often see strong
desire to be parents.
 Many establish close
relationship with
other younger family
members.
Health Issues and Concerns
Health Issues and Concerns
 The Early Years
 Nutrition, Growth and Development
 Poor weight gain and slower growth
 Strabismus – Cross Eye
 May require patching and/or surgery
 Lack of Vomiting
 Becomes concerning in cases of poisoning.
 Emetics often ineffective.
Health Issues and Concerns
 Life Long
 High Pain Threshold
 Sensation of pain is not often felt.
 All injuries and suspected illnesses need to be
assessed.
 Scoliosis
 Found in persons of all ages.
 Braces used to prevent advancement. May need
surgery.
 Body Temperature Abnormalities
 Both very high and very low temperatures
reported.
 May not have fever in cases of infection.
Health Issues and Concerns
 Life Long cont.
 Respiratory Problems
 Increased incidence of
sleep apnea – all ages.
 If obese – weight loss;
CPAP (Continuous
Positive Airway Pressure)
 Poor muscle tone – high
risk of pneumonia with
upper respiratory
infections.
 Must have sleep study
prior to start of growth
hormone therapy.
Health Issues and Concerns
 Life Long cont.
 Increased Sensitivity to Medications –
especially those that cause sedation.
Includes general anesthesia.
 Increase risk of injury due to poor
muscle tone.
 Increase bruising.
 Fair coloring – risk of sun burning.
Health Issues and Concerns
 Older Ages – (Not in infants)
 Skin Picking – can be very
problematic.
 Often mistaken for abuse.
Cellulitis common.
 Dental Problems – poor enamel,
cavities, teeth grinding.
 Often see thick, sticky saliva
 Good oral care and dental
check ups
 Osteoporosis
 May result from hormone
deficiencies and life long
dietary limitations.
 May sustain fractures easily
Health Issues and Concerns
 Severe Gastric Illness
 Seeing increasing number of
cases – inflammation of
stomach. In some cases –
death of stomach tissue and
rupturing of stomach.
 Symptoms: complaints of “not
feeling well”; abdominal
distention, vomiting, may or
may not have complaints of
abdominal pain.
 Often noted after binge
episode.
 Requires immediate evaluation
by health care professional
 Complications of
Obesity
 Today - more
prevention of
obesity.
 Diabetes
 Heart complications
– right sided heart
failure
 Respiratory
problems.
Health Issues and Concerns
 Recommend carrying
medical brochure and
information at all
times.
Refer Health Care
professionals to PWSA
(USA) website or toll
free number when
unsure of symptoms
and/or treatment
issues.
Resources for Families and
Professionals
Resources for Families and Professionals
 LOCALLY
 Prader-Willi Syndrome
Association of WI, Inc.
 Provides support,
education and advocacy.
 Website:
www.pwsausa.org/WI
 Toll free number
 Publications, newsletter,
social events, trainings,
consultations, advocacy
and support.
 Locate local chapter in
your area by going to
PWSA (USA) website –
support – chapters – use
map.
 NATIONALLY
 Prader-Willi Syndrome
Association (USA)
 Provides support, education
and advocacy nationwide.
 Funds research.
 Website: www.pwsausa.org
 Toll free number
 Creates and disseminates
publications, information &
bi-monthly newsletter.
 Provides support, Young
Parent Mentoring Program,
Crisis Support.
 Assists professional to
professional consultations.
Resources for Families and Professionals
 NATIONALLLY
 Foundation for PraderWilli Syndrome
Research
 Funds go toward the
advancement of
research in finding a
cure for PWS.
 Website: www.fpwr.org

INTERNATIONALLY
 International PraderWilli Syndrome
Organisation
 Provides information
and support around
the world.
 Website:
www.ipwso.org
 Publications,
information and
support.
Resources for Families and Professionals
 NATIONALLLY
 Foundation for PraderWilli Syndrome
Research
 Funds go toward the
advancement of
research in finding a
cure for PWS.
 Website: www.fpwr.org

INTERNATIONALLY
 International PraderWilli Syndrome
Organisation
 Provides information
and support around
the world.
 Website:
www.ipwso.org
 Publications,
information and
support.
Hope for the Future
Hope for the Future
 More research studies on Prader-Willi
syndrome than ever before.
 Increase focus on obesity research is helping
persons with Prader-Willi syndrome.
 Improved quality of life for those living with
this disability.
 Hormone replacement therapy is changing the
growth and development of our youth.
 Continued need for more information that will
help our aging population.
 Hope today … for a cure tomorrow.
The Larson's - A Special Family
Alex and Mathew – Special Brothers
A Life Long Continuum:
Challenges for Children and
Adults with Prader-Willi
Syndrome
A Life Long Continuum of Challenges for
Children and Adults with PWS
 The Infant and Young
Child
 NUTRITION AND
HEALTH NEEDS
 Feeding difficulties,
poor weight gain.
 Seen at birth to
around the age of 2
years.
 Require special
feeding techniques.
 Focus on nutrition
and weight gain.
Many require special feedings
into a gastrostomy tube placed
in the abdomen. Monitoring
weight becomes a life long
task.
A Life Long Continuum of Challenges
for Children and Adults with PWS
 Once weight starts to increase – must
begin to monitor calories.
 Important for parent to receive nutritional
counseling.
 Need outside support on diet and nutrition
– families and friends.
 NEW RESEARCH on use of Growth Hormone
in infants – data promising.
 Health Concerns: strabismus, sleep apnea
and scoliosis.
A Life Long Continuum of Challenges for
Children and Adults with PWS

DELAYED DEVELOPMENTAL
MILESTONES




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Poor muscle tone impacts
most developmental
milestones – sitting,
crawling, walking, talking.
Require early intervention
services.
Excessive sleepiness –
must be stimulated – not
allowed to sleep all of the
time.
Affects feeding and speech
and language.
Requires a means to
communicate – sign
language, communication
boards.
A Life Long Continuum of Challenges
for Children and Adults with PWS
 The School Age Child
 NUTRITIONAL AND HEALTH NEEDS
Onset of Food Preoccupation and Food Seeking
Start to see weight gain with more interest in
food – around age 2 years.
Different degrees of intensity. Most families must
begin to lock up food. Some use alarms.
All require close monitoring of calories and
weight.
Important to initiate exercise program – make
fun and age appropriate.
A Life Long Continuum of Challenges
for Children and Adults with PWS
 Health Concerns: Growth
Hormone therapy – FDA
approved for children with
PWS - increases muscle
mass; decreases fat;
improves bone density;
improves cardiac and
respiratory function.
 Skin picking more
problematic. May also see
apnea and scoliosis.
 Must be concerned with
lack of pain response,
temperature control
problems and risk of
gastric illness.
A Life Long Continuum of Challenges
for Children and Adults with PWS
 FINE AND GROSS MOTOR DELAYS
 Continue to see motor delays. Impacts learning and
daily living skills – writing, coordination, dressing and
toileting skills.
 May impair recreational abilities – riding bike, sports,
dancing …
 SPEECH AND LANGUAGE PROBLEMS
 Continue to see delays and challenges
 Often have good receptive but poor expressive
abilities.
 Must give child a way to communicate – often see
frustrations which may lead to behavior problems.
 Speech therapy common.
A Life Long Continuum of Challenges for
Children and Adults with PWS
 LEARNING PROBLEMS






88% have cognitive
disability; others
typically learning
disabled.
Many are visual
learners.
Do well with structured
approach.
Concrete thinkers.
Difficult time with
sequential processing.
Challenge – food in
learning environment.
Anxiety, frustration and
behavior often
interferes with learning.
A Life Long Continuum Challenges
for Children and Adults with PWS
 BEHAVIOR CHALLENGES
 Strong need for structure and consistency. Very
anxious about changes.
 Inability to regulate – their feelings, emotions
and responses.
 Need to be taught appropriate ways to handle
anxiety and frustration.
 Food and change – 2 most common causes of
escalation in behavior.
 Easily over-stimulated.
 Varying responses – can destroy property and/or
become aggressive.
A Life Long Continuum of Challenges
for Children and Adults with PWS
SOCIAL SKILL NEEDS
 Love to be around others – often exhibit
parallel play and interactions.
 Many do not do well with winning and
losing. Fairness often becomes issue.
 Speech, language and behavior often
interfere with peer interactions.
 Need life long assistance with social skills
and interactions.
A Life Long Continuum of Challenges
for Children and Adults with PWS
 Growth Hormone
therapy common.
 Concerns - lack of
pain response, poor
temperature
control, skin
picking, sleep
apnea, scoliosis and
gastric illness.
 The Adolescent
 NUTRITIONAL AND
HEALTH NEEDS
 Food seeking often
increases. Environment
more challenging to
control.
 Weight issues more
problematic
 Require closer
supervision.
 Exercise remains very
important.
 Health Concerns: same
as school age child.
Closer supervision
needed to prevent
binge eating.
A Life Long Continuum of Challenges
for Children and Adults with PWS
 Common to see onset of
hormonal surge with
incomplete pubertal
changes.
 Early growth of pubic and
under arm hair common.
(Precocious Puberty)
 Women may or may not
menstruate. Often very
irregular. Some have
breast development.
 Boys may start to have
voice change – but not
complete. Some have
sparse beard growth.
Testicles may descend if
not surgically done so as
infant.
A Life Long Continuum of Challenges
for Children and Adults with PWS
 LEARNING CHALLENGES
 Continue to require
special education
services. Food becomes
more challenging - bigger
part of environment.
 Consistency more difficult
– more educators in high
school approach. Many
require smaller group
approach to learning.
Self contained classroom
most successful.
 May see increase in
behavior problems.
 BEHAVIOR
CHALLENGES
 Most need greater
behavior support.
 May be teased more
– esp. if weight is an
issue.
 Food – most
common reason for
challenging
behaviors.
 May see lying,
stealing … in order to
obtain food.
A Life Long Continuum of Challenges
for Children and Adults with PWS

SOCIAL SKILL NEEDS






Have strong desire to be
like peers. Want friends –
especially boy/girl friend.
Often lack skills. Can
become obsessed with
friends, and phone calls.
Receive mixed messages –
what they are told they
can/cannot do – what they
see others doing.
Many are successful in
clubs when diet and
behavior needs are
supported.
Many very curious about
sex.
Social “coaching” and close
supervision often needed.
A Life Long Continuum of Challenges
for Children and Adults with PWS
 PREPARING FOR ADULT LIFE –
INDEPENDENT LIVING AND WORK SKILLS
 In order to prevent extraordinary weight gain and
life threatening obesity – adults with PWS require
support 24-7.
 All access to food must be controlled.
 Need to learn daily living skills – laundry,
cleaning, … Most do not do cooking.
 Money skills needed but must be closely
supervised.
A Life Long Continuum of Challenges
for Children and Adults with PWS

Finding a job can be
challenging.





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Requires detailed attention
to all aspects of food –
break rooms, vending
machines, food culture of
work environment.
Needs to be good match
for physical capabilities.
Is work consistent? What is
anxiety-frustration level?
Requires 1:1 supervision.
Most do well in sheltered
work setting where food
and behavior concerns can
be addressed.
Mixture of community and
sheltered setting if
possible.
A Life Long Continuum of Challenges
for Children and Adults with PWS

The Adult with PWS

NUTRITIONAL AND HEALTH
NEEDS





Diet, nutrition, weight
management – life long
needs.
Preventing accesses to
food – safe environment;
lessens anxiety.
Preventing obesity and
its complications. As we
age, diabetes can be risk
for all.
Health Concerns –
greater incidence of
orthopedic issues –
osteoporosis, fractures,
spine problems.
Aging health issues – we
are learning about now.
A Life Long Continuum of Challenges
for Children and Adults with PWS
 BEHAVIOR
CHALLENGES
 Behavior challenges
decrease with age.
(Dykens, 2004)
 Better able to handle
change; more
mellow.
A Life Long Continuum of Challenges
for Children and Adults with PWS

SOCIAL RELATIONSHIPS –
Dating, Marriage, and Family




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Life long desire to date, marry
and have children.
Dating opportunities should be
facilitated. Need concrete
information on dating etiquette
and social decision making.
Marriage – financial impact;
lack true understanding of
marriage and commitment.
Family – hormonal deficiencies
may cause sterility. Few cases
of women with PWS have
conceived and delivered child.
Unknown in men.
If sexually active – require
instruction on contraception
and sexually transmitted
diseases.
A Life Long Continuum of Challenges
for Children and Adults with PWS
 INDEPENDENT LIVING
 No known cases of adults
with PWS successfully living
independently without
support. When attempted –
life threatening obesity has
resulted.
 Some continue to live at
home with parents.
 Need support 24-7.
 Most can be responsible for
care and upkeep of home.
 Can and are happy, active,
productive members in their
communities.
 WORK
 Life long need for a “foodsafe” work environment.
 Low frustration, predictable.
 Combine sheltered work
setting with communitybased.
 As population ages – will
need day programming for
elderly.