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 OF THE PROJECT

• . 1990
• . Family lobbying efforts
• . DOH funding
• . Serving 54 families
• . 14 NM Counties
• . 22 years of combined
• experience
• . Only project in US

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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 MOSAIC PWS

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

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DIAGNOSIS

• Refer to Geneticist for diagnosis.
• PWS can now be diagnosed with a blood test called
  a DNA methylation test (1).
• Results can be obtained in a couple of weeks.
• Confirms or rules out PWS as a diagnosis with 99
  accuracy.

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Criteria for Prompt Diagnostic Testing

• Less than 2 years of age
• 2-6 years

• Hypotonia with poor suck in the neonatal period
  and small genitalia.
• History of poor suck in infancy, and global
  developmental delay. (in our experience we have
  seen children present with excessive appetite
  this young)

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Criteria for Prompt Diagnostic Testing

• History of hypotonia with poor suck in infancy
  (hypotonia often persists), and global
  developmental delay, and excessive eating with
  central obesity if uncontrolled (in our
  experience we have seen behavior problems in
  these years).

• 6-12 years

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Criteria for Prompt Diagnostic Testing

• Cognitive impairment, usually mild MR, and
  excessive eating with central obesity if
  uncontrolled and hypothalamic hypogonadism and/or
  typical behavior problems (we have seen behavior
  problems manifest at earlier ages).

• 13 years or older

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HYPOTHALAMUS (dysfunction)

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

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HYPOTONIA FAILURE TO THRIVE

• . 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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HYPOTONIANURSING IMPLICATIONSINFANTS

• Weak suck often necessitating gavage feedings
  other means of nutrition support
• Poor weight gain often leading to failure to
  thrive
• Respiratory difficulty sometimes requiring oxygen
• Tendency to develop pneumonia and RSV

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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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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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MALE HYPOGONADISMNursing Implications

• Testes not dropping, sometimes requiring hormone
  injections or surgery
• Psychological effect of having small genitals
• Premature osteoporosis bone density test
  beginning at 15 years of age
• Hormone replacement testosterone
• Sometimes placed on Fosamax
• Growth Hormone replacement

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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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FEMALE HYPOGONADISMNursing Implications

• Irregular or absent menses
• Premature osteoporosis bone density test
  beginning at 15 years of age
• Hormone replacement birth control pills
• Regular gynecology exams
• Growth Hormone replacement

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Growth Hormone Growth hormone deficiency is a
common finding in PWS. Hormone injections are
covered by insurance with diagnosis.Treatment is
optional.
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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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HYPERPHAGIA

• Non-functioning Hypothalamus causes hormone
  deregulation.
• No feeling of fullness satiety
• Always feeling hungry insatiable appetite
• May be due to abnormally high levels of ghrelin

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Hunger Hormone

• Ghrelin is the 1st and only yet-described-appetit
  e stimulating hormone.
• Dr. David Cummings an Endocrinologist at
  Seattles Veterans Administration Medical Center
  and the University of Washington studied
  individuals with PWS and found ghrelin levels to
  be among the highest that have yet been recorded
  in any humans. (May also affect memory and
  growth?)

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Theory?

• Theoretical Stage the theory is, Ghrelin goes to
  the brain and hunger sets in. After a meal, the
  hunger hormone Ghrelin subsides and the hormone
  (maybe PYY) that orders the brain to stop eating
  has risen in the bloodstream. (Are levels of PYY
  deficient in individuals with PWS or a hormone
  needed to suppress ghrelin?)

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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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• There is a well documented relationship of
  morbidity and mortality to obesity-related
  complications in individuals with PWS. PWS is
  the most common recognized genetic form of
  obesity.

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Law of thermodynamics

• Energy In equals Energy Out
• Weight Maintenance

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There are several factors that can create a
chronic energy imbalance that lead to the
development of obesity in PWS if supports are not
implemented.
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Factors contributing to chronic energy imbalance

• .Inactivity.Lower muscle tone.Higher
  percentage of body fat mass.BMR amount of
  energy used to maintain .Physiological functions
  at rest may be decreased as much as 20 in this
  population leading to lower calorie needs
• .Hyperphagia- Ghrelin

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Muscle Versus Fat

• A pound of muscle burns 35 calories.
• A pound of fat burns next to zero calories.
• (Studies in individuals with PWS have found 40 to
  50 body composition as fat tissue mass and lower
  amounts of lean muscle mass)

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Creates very low calorie needs
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Supports

• Environmental modifications.
• Nutrition intervention with appropriate calorie
  diet
• Behavioral supports
• PWS training

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LEAST RESTRICTIVE ENVIRONMENT

• The argument is that strict dietary management is
  too restrictive or that locking food abrogates
  rights. Unlocking food in too many cases has
  led to medical emergencies or lead to premature
  deaths related to complications of obesity some
  consider this medical neglect and dangerous.
• (Referenced PWSA (USA) Scientific Advisory
  Board, Policy Statement Adults with PWS and
  Decisions Regarding Least Restrictive Environment
  and the Right to Eat.)

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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
• Hyperlipidemia

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MORBID OBESITYNursing Implications

• Growth charts with children
• Regular weighing
• Pulmonary functioning exams
• Regular screening for Type II diabetes
• Echocardiograms
• Care of skin and effects of self-abuse
• Sleep studies

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Sleep Studies should be considered

• Problems with sleep sleep disorder breathing
  are a common finding in PWS with or without
  obesity
• Evaluations for
• Hypoventilation
• Upper airway obstruction
• Obstructive sleep apnea
• Central apnea

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Risk factors that expedite sleep study

• Severe obesity (200)
• Chronic respiratory infections or asthma
• Snoring, sleep apnea and awakenings from sleep
• Excessive daytime sleepiness, especially if this
  is getting worse
• Before major surgery
• Prior to sedation for procedures
• Prior to starting growth hormone
• (Referenced PWSA (US) Clinical Advisory Board
  Consensus Statement, Recommendations for
  evaluation of breathing abnormalities associated
  with sleep in PWS. 12/2003)

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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
• Hypopigmentation
• 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
• 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 ANNUAL PHYSICAL

• Complete metabolic panel screening for
  potassium, sodium and calcium
• Bone Density for osteoporosis
• Monitoring for cellulites
• Thyroid exam
• Monitor for constipation and hernias
• Lipid panels cholesterol,triglycerides, LDL and
  HDL

• Pulmonary exam
• Sleep studies
• Screening for profound hypoventilation
• Fasting blood glucose or insulin resistance test.
  (evaluation for Type II Diabetes)
• Cardiac monitoring for right-sided failure
• Monitoring for stasis ulcers

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THE HYPOTHALAMUSEMOTIONS

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

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THE HYPOTHALAMUSBEHAVIOR

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

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BEHAVIOR NURSING

• Story Telling
• Manipulation of Symptoms
• Food Seeking the Nurse
• Self-Abuse
• Medication Refusal
• Triangulation

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SUPPORTS from The Childrens Institute of
PittsburghPrader-Willi Syndrome Program

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

• Environmental Controls
• Communication
• Supervision
• Food Security

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WELL MANAGED PWS
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AND TWO OTHERS
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AT THE PROM