Prader-Willi Syndrome Across the Life Span
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Transcript Prader-Willi Syndrome Across the Life Span
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
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.
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
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.