Download - 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:
1:12-15,000 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 mother’s 15th chromosome duplicates onto the father’s chromosome
25% of people with PWS
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INHERITED PWS
• Incidence – less than 1/10 of 1%
• Mutation on father’s 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 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
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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• 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”
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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
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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 it’s over, it’s 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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MANAGING an INSATIABLE APPETITE at SCHOOL
• ENVIRONMENTAL CONTROLS – keep the environment clear of food
• Out of sight; out of mind• Locking food sources• Not eating in front of
person• Managing classroom
parties & food sales• Not using food as a
reward
• SUPERVISION OF THE PERSON - keep the person in sight
• In the cafeteria• In the classroom• Changing classes• At recess• On the bus
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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-shaped”torso• 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
• Pain sensitivity
• 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 HYPOTHALAMUS&
EMOTIONS
• Mood Swings
• Disproportionate emotional responses
• Longer calming time
• Temper tantrums
• Clinical depression
• Psychosis
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THE HYPOTHALAMUS&
BEHAVIOR• 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 – SSRI’s 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 –
DON’T 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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PWS Case Study:
-Ms. X presented with severe morbid obesity and diagnosis of PWS (1990).
- Sleep apnea requiring oxygen.
- In wheel chair and trouble walking because of weight.
-Her weight was 291# at 54” (BMI = 70).
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Intervention• Environmental modifications
and 24-hour supervision. • Nutrition intervention with
appropriate calorie diet (implemented 1200 calorie diet).
• Weight checks (helps with food seeking behaviors)
• Behavioral supports• PWS training for all
individuals involved in care.
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OutcomeResulted in 151-
pound weight loss.Weight at 140# and
has maintained for over eight years.
Out of wheel chairOff oxygenBMI: 34 (was 70)
Prevention of death and premature
disability.
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Power Point Presentation Medical Advisor
PWS Project’s Medical Advisor is Dr. Carol Clericuzio Her June 17, 2009 presentation on PWS can be found at
www.ARCAOpeningDoors.org
. Click on – Services We Provide . then Prader-Willi Syndrome Project . then – at bottom of page, link to presentation
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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