PRADER-WILLI SYNDROME

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PRADER-WILLI SYNDROME

• Presented by
• The Prader-Willi Syndrome Project
• for New Mexico

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HISTORY

• 1956
• 3 Doctors from
• Switzerland
• A syndrome is a set of
• characteristics
• Incidence Rate
• 112-15,000 live births

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GENETICS15th 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 mothers 15th
  chromosome duplicates onto the fathers
  chromosome
• 25 of people with
• PWS

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INHERITED PWS

• Incidence less than 1/10 of 1
• Mutation on fathers 15th chromosome
• Child can inherit the mutation
• Mosaic PWS

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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

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AND MORE

• In Maternal Dysomy the child receives a double
  dose of the mothers genetic inheritance
  residing on chromosome 15
• Angelmans Syndrome is a mirror image of PWS
  where deletions and duplications occur on the
  mothers 15 chromosome - manifests as a
  different syndrome
• Genetic research continues including treatment
  with gene therapy

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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.

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HYPOTHALAMUS

• Regulates
  Regulates
• Body
  Secretion
• Processes
  of
• 
  Hormones
• Functions

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HYPOTONIA

• . Delayed fetal movement
• . Weak cry lethargy
• . Feeding difficulties
• . Delayed motor skills

• . Speech difficulties
• . Scoliosis/Hip Dysplasia
• . Myopia/Strabismus
• . Unbalanced , uncoordinated gait

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HYPOTONIAChildren

• Orthopedic evaluation
• Strabismus sometimes requiring surgery
• Vision screening
• Monitoring for scoliosis (surgery)
• Monitoring for hip dysplasia (surgery)

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HYPOTONIA OBESITY

• The complications of morbid obesity (30 or more
  overweight) happen sooner for persons with PWS
  because of the hypotonia

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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

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MALE HYPOGONADISM

• Undescended testes
• Small penis
• Lack of growth spurt
• Lack of secondary sexual characteristics
• Infertility usual

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FEMALE HYPOGONADISM

• Small genitalia
• Absent/irregular menses
• Lack of growth spurt
• Lack of secondary sexual characteristics
• Infertility usual

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HYPOMENTIA

• All have Learning Disabilities
• Mental Retardation
• IQ scores range from 35-110, most testing around
  70

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HYPOMENTIACognitive Strengths

• Fine Motor Skills
• Long Term Memory
• Visual Perceptional Skills
• Verbal Skills/Receptive Language
• Artistic Abilities

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HYPOMENTIACognitive Challenges

• Abstract/Conceptual Thinking
• Auditory Short Term Memory
• Loss of Learned Information
• Set of Specific Learning Disabilities
• . Sequencing . Generalizing
• . Social Context . Meta-Cognition

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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

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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

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MORE BEST PRACTICES

• Some children with PWS are easily over-
  stimulated 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

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HYPERPHAGIA the food
problem

• 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
• Cant raise basal metabolic rate little weight
  loss with exercise
• Too much adipose tissue and not enough lean
  muscle mass making them feel mushy

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FOOD SEEKING

• Incessant hunger makes person constantly think
  about food and how to get it
• Body thinks its 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

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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

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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- of-factly
• Do not be angry, lecture or apologize
• Once its over, its over

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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

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MORBID OBESITY
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MORBID OBESITYMedical 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

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DIETARY MANAGEMENT

• 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

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SECONDARY MANIFESTATIONS

• Almond-shaped eyes
• Tented upper lip
• Narrow temples
• Narrow jaw
• Larger space between nose and mouth
• Straight ulnar border

• Smaller hands feet
• Pear-shapedtorso
• Short stature
• Hypo pigmentation
• Thicker saliva leading to dental problems

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FACIAL FEATURES
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BODY FEATURES
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HYPOTHALAMUS DYSFUNCTION

• Brain arousal
• Internal body temperature
• High pain tolerance
• Difficulty with or inability to vomit
• Reactions to medications is different
• Symptoms of illness

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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

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RECENT MEDICAL ISSUES

• Gorging
• Water Intoxication
• Rectal Digging
• Hernias
• Gastro-Intestinal Complaints
• Aspiration
• Thyroid Problems
• Acute Idiopathic Gastric Dilation

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CHECK THE BODY FIRSTINTERNALLY

• X-RAYS
• ULTRASOUNDS
• LAB WORK

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THE HYPOTHALAMUSEMOTIONS

• Mood Swings
• Disproportionate emotional responses
• Temper tantrums
• Longer calming time
• Clinical depression
• Psychosis

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THE HYPOTHALAMUSBEHAVIOR

• Obsessive/compulsive
• Inflexibility
• Perseveration
• Stubbornness
• Hoarding
• Aggression/violence
• Self-trauma

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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

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STRESS, BEHAVIOR FOOD

• Lack of food security Hope Disappointment
  Stress Behaviors
• Food security No hope No disappointment
  No stress No behaviors

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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

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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

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A WAY OF LOOKING AT BEHAVIOR

• When behaviors occur look at
• 1. Physical illness
• 2. Stressors
• 3. Medications SSRIs can trigger the
  mood instability

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3 MAIN WAYS TO MANAGE PWS BEHAVIORS

• STRUCTURE
• CONSISTENCY
• PREDICTABILITY

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THE THERAPEUTIC MILIEU

• Structured daily plan
• Rules
• Reward Management System
• Consequence System

• Environmental Controls
• Communication
• Staff Supervision
• Food Security

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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

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BEHAVIOR CONTRACTS

• 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

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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

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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

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FOOD SECURITY

• All elements of meals need to be set in advance
• No arbitrary changes
• Planned posted menus
• Limit discussion about food
• DONT ARGUE
• All staff trained on diet

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SUGGESTED INTERVENTIONS FOR PWS BEHAVIOR

• Stubborn Opposition
• Negativism, Arguing, Defiance
• Perseveration
• Temper Tantrums
• Intermittent Explosiveness
• Physical aggression
• Skin Picking

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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

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NEGATIVISIM, ARGUING DEFIANCE

• 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.

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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

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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

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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

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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

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WELL MANAGED PWS
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ANOTHER
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A BABY
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AND TWO OTHERS
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OUT ABOUT
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AT THE PROM