Transcript PRADER-WILLI SYNDROME

PRADER-WILLI SYNDROME
Presented by:
The Prader-Willi Syndrome Project
for New Mexico
HISTORY
1956
3 Doctors from
Switzerland
A syndrome is a set of
characteristics
Incidence Rate:
1:12-15,000 live births
GENETICS
15th chromosome from
father
Paternal Deletion
A band of genes
15q11-q13 is missing
from the 15th
chromosome coming
from the father
75% of people with
PWS
Maternal Dysomy
the genetic material
on the mother’s 15th
chromosome
duplicates onto the
father’s chromosome
25% of people with
PWS
INHERITED PWS
• Incidence – less than
1/10 of 1%
• Mutation on father’s
15th chromosome
• Child can inherit the
mutation
• Mosaic PWS
MORE ON GENETICS
• In Paternal Deletion there can be micro and
macro deletions
• Deletions may be influencing the other
genes on chromosome 15
• Genes on chromosome 15 may be
influencing a tendency toward depression
and bi-polar disorders
AND MORE
• In Maternal Dysomy the child receives a “double
dose” of the mother’s genetic inheritance residing
on chromosome 15
• Angelman’s Syndrome is a mirror image of PWS
where deletions and duplications occur on the
mother’s 15 chromosome - manifests as a
different syndrome
• Genetic research continues including treatment
with gene therapy
DIAGNOSIS
• PWS can now be diagnosed with a blood
test called a protein mythelation assay.
• Results can be obtained in a couple of
weeks.
• Test is 99% accurate.
HYPOTHALAMUS
Regulates
Body
Processes
&
Functions
Regulates
Secretion
of
Hormones
HYPOTONIA
. Delayed fetal
movement
. Weak cry & lethargy
. Feeding difficulties
. Delayed motor skills
. Speech difficulties
. Scoliosis/Hip Dysplasia
. Myopia/Strabismus
. Unbalanced ,
uncoordinated gait
HYPOTONIA
Children
• Orthopedic evaluation
• Strabismus sometimes
requiring surgery
• Vision screening
• Monitoring for
scoliosis (surgery)
• Monitoring for hip
dysplasia (surgery)
HYPOTONIA & OBESITY
• The complications of morbid obesity (30%
or more overweight) happen sooner for
persons with PWS because of the hypotonia
HYPOGONADISM
• Small genitals
• Low levels of sexual hormone
• Incomplete puberty due to hypothalamus
not triggering the pituitary gland
• Risk for premature osteoporosis
• Low levels of Growth Hormone
MALE HYPOGONADISM
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Undescended testes
Small penis
Lack of growth spurt
Lack of secondary
sexual characteristics
• Infertility usual
FEMALE HYPOGONADISM
• Small genitalia
• Absent/irregular
menses
• Lack of growth spurt
• Lack of secondary
sexual characteristics
• Infertility usual
HYPOMENTIA
• All have Learning Disabilities
• Mental Retardation
• IQ scores range from 35-110, most testing
around 70
HYPOMENTIA
Cognitive Strengths
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Fine Motor Skills
Long Term Memory
Visual Perceptional Skills
Verbal Skills/Receptive Language
Artistic Abilities
HYPOMENTIA
Cognitive Challenges
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Abstract/Conceptual Thinking
Auditory Short Term Memory
Loss of Learned Information
Set of Specific Learning Disabilities
. Sequencing
. Generalizing
. Social Context . Meta-Cognition
LYING & PWS
• Lying to get out of
trouble
• Lying to manipulate
• Confabulations – the
telling of tall tales for
no apparent reason
• Type of lying
determines the
response
BEST PRACTICES FOR THE
CLASSROOM
• Structure & consistency – is essential for
management of PWS & needs to be visually
presented
• Activities – a full day moving from one to another
with no “hanging out”
• Individual attention – as much as possible
• Positive reinforcement – as much as possible
• Peer relationships – need to be encouraged
• Visual learners
MORE BEST PRACTICES
• Some children with PWS are easily overstimulated and have short attention spans – may
need to make environmental accommodations
• Concrete, hands-on learning style – learn by doing
• Need to be weighed and measured weekly, same
time and same scale
• Therapies – often OT, SLP and PT
HYPERPHAGIA
the food problem
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Non-functioning Hypothalamus
No feeling of fullness – satiety
Always feeling hungry – insatiable appetite
Slower metabolism – up to 1/3 slower
Gain weight 3 times faster; need 1/3 fewer calories
Can’t raise basal metabolic rate – little weight loss
with exercise
• Too much adipose tissue and not enough lean
muscle mass – making them feel “mushy”
FOOD SEEKING
• Incessant hunger makes person constantly think
about food and how to get it
• Body thinks it’s starving – survival instinct is
stuck on ON
• Person does whatever they have to do to obtain
food
• Out of their control – like you holding your breath
and then body takes over and breathes for you
FOOD SEEKING AT
SCHOOL
• Should be expected
• Most of it is opportunistic – result of failure
of caretakers to follow rules
• Forgive yourself & start again
• Successful food stealing encourages food
seeking
• If occurring weekly, food security not
established
FOOD STEALING
• Ask for food – do not
take it – let family
know if child chooses
to eat it
• Establish consequence
ahead of time – may
require searches
• Respond matter- offactly
• Do not be angry,
lecture or apologize
• Once it’s over, it’s
over
DANGERS OF MORBID
OBESITY
• Cardio-pulmonary
Disease
• Hypertension
• Obstructive Sleep
Apnea
• Pickwickean
Syndrome
• Incontinence
• Type II Diabetes – as
early as 6 years old
• Edema
• Skin sores
• Yeast Infections
• Inability to walk
• Right side heart failure
MORBID OBESITY
MORBID OBESITY
Medical Implications
• Growth charts with children
• Regular weighing
• Pulmonary functioning exams sometimes leading
to sleep studies
• Regular screening for Type II diabetes
• Echocardiograms- right side heart
failure
• Care of skin and effects of self-abuse
DIETARY MANAGEMENT
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Supervision around food & no food around
Modified lunch menus
No money at school
Pre-plan parties & treats – do not exclude
Watch for food trading & the generosity of
children
SECONDARY
MANIFESTATIONS
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Almond-shaped eyes
Tented upper lip
Narrow temples
Narrow jaw
Larger space between
nose and mouth
• Straight ulnar border
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Smaller hands & feet
“Pear-shaped”torso
Short stature
Hypo pigmentation
Thicker saliva leading
to dental problems
FACIAL FEATURES
BODY FEATURES
HYPOTHALAMUS
DYSFUNCTION
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Brain arousal
Internal body temperature
High pain tolerance
Difficulty with or inability to vomit
Reactions to medications is different
Symptoms of illness
EXPERIENCE OF ILLNESS
• The body registers the pain or illness but the
mind does not perceive it
• The person acts out the pain or illness
. Disorientation
.Vomiting
. Confusion
. Memory loss
. Fatigue
. Odd behaviors
. Loss of appetite
. Loss of interest
RECENT MEDICAL ISSUES
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Gorging
Water Intoxication
Rectal Digging
Hernias
Gastro-Intestinal
Complaints
• Aspiration
• Thyroid Problems
• Acute Idiopathic Gastric
Dilation
CHECK THE BODY FIRST
INTERNALLY
• X-RAYS
• ULTRASOUNDS
• LAB WORK
THE HYPOTHALAMUS
&
EMOTIONS
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Mood Swings
Disproportionate emotional responses
Temper tantrums
Longer calming time
Clinical depression
Psychosis
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THE HYPOTHALAMUS
&
BEHAVIOR
Obsessive/compulsive
Inflexibility
Perseveration
Stubbornness
Hoarding
Aggression/violence
Self-trauma
STRESS & BEHAVIOR
• Due to genetic reality people with PWS
more vulnerable to stress
• PWS itself is a stressor
• Access to food and food itself is a stressor
• Too much independence can be a stressor
• Crisis for persons with PWS is the conflict
between environment and their personalities
and coping mechanisms
STRESS, BEHAVIOR &
FOOD
• Lack of food security = Hope =
Disappointment = Stress = Behaviors
• Food security = No hope = No
disappointment = No stress = No
behaviors
DEVELOPMENTAL DELAYS
AND BEHAVIOR
• Delay at the
narcissistic stage of
development – around
3 years of age
• Delay at around 12
years of age in
judgment
BEHAVIOR APPROACH
• Look at underlying stressors not each
individual behavior
• Often stressors can be modified with
environmental modifications
• Reduction of stressors often leads to
diminishment of behaviors without the need
for medication
A WAY OF LOOKING AT
BEHAVIOR
When behaviors occur
look at:
1. Physical illness
2. Stressors
3. Medications –
SSRI’s can trigger the
mood instability
3 MAIN WAYS TO MANAGE
PWS BEHAVIORS
• STRUCTURE
• CONSISTENCY
• PREDICTABILITY
THE THERAPEUTIC
MILIEU
• Structured daily plan
• Rules
• Reward Management
System
• Consequence System
• Environmental
Controls
• Communication
• Staff Supervision
• Food Security
REWARD MANAGEMENT
SYSTEM
• Defined system of daily rewards & weekly
reinforcers
• Visual reminders – point sheet or chart
• Reinforcers must be varied & interesting to
the person
• Individual needs to be involved in choosing
reinforcers
• Frequent random praise
• Data sheets to document progress
BEHAVIOR CONTRACTS
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Identify target behaviors – around 3 or 4
Write out what is expected
Write out consequence
Have person & team sign contract
Give points on a set time frame for absence
of target behaviors – differential
reinforcement
• Points translate into tokens
CONSEQUENCE SYSTEM
• Defined system of consequence – initially
thoroughly presented to person & then
given low attention
• Consequences given non-confrontationally
• Not to be used as a threat
• Must be consistently enforced and cannot
be changed arbitrarily
INTERVENTIONS
• Must have pre-planned interventions for the
following PWS possibilities:
. Elopement – running away
. Removal to a quiet place to calm
. Ability to have person remain in quiet
place until they do calm down
. Physical aggression against self or
others requiring an intervention
FOOD SECURITY
• All elements of meals need to be set in
advance
• No arbitrary changes
• Planned & posted menus
• Limit discussion about food –
DON’T ARGUE
• All staff trained on diet
SUGGESTED
INTERVENTIONS FOR
PWS BEHAVIOR
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Stubborn Opposition
Negativism, Arguing, Defiance
Perseveration
Temper Tantrums
Intermittent Explosiveness
Physical aggression
Skin Picking
STUBBORN OPPOSITION
• Planned ignoring of harmless negativity and
opposition – wait it out
• Give praise immediately for positive
behaviors as soon as exhibited
• Do not comfort or cajole
• Briefly restate request and then stop talking
• Remain neutral
NEGATIVISIM, ARGUING &
DEFIANCE
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Use prearranged prompts & cues
Use low attention & redirection
Do not continue to respond back
Do not engage in arguing, simply restate the
rule or expectation
• Let the person have the last word
• Show with your demeanor that you are calm
and not going to change your mind.
PERSEVERATION
• Planned ignoring – answer question once or
explain once then STOP – to continue will
give negative attention & reinforcement
• Redirection – if person is truly stuck, reduce
stimulus in environment & try to redirect
• Give praise as soon as topic of
perseveration changes
TEMPER TANTURMS
• Control physical environment to ensure
safety
• Ignore behavior completely if actions not
immediately dangerous
• Give mild & neutral praise when person is
calm and move on
PHYSICAL AGGRESSION
• Control environment – remove objects that
might be thrown; secure exits if person
elopes
• Give verbal prompts to calm
• Intervene physically if there is imminent
danger to person or others
SKIN PICKING
• Low attention; Redirection
• Do not punish – must live with natural
consequences
• Make a contract about picking
. Take a picture of lesion
. Put antibiotic on wound 4 or more times
a day
. Establish a small reward for healing – reward
the healing, rather than the not picking
. Expect picking at a new area
WELL MANAGED PWS
ANOTHER
A BABY
AND TWO OTHERS
OUT & ABOUT
AT THE PROM