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PRADER-WILLI SYNDROME

PRADER-WILLI SYNDROME. Presented by: The Prader-Willi Syndrome Project for New Mexico. . 1990 . Family lobbying efforts . DOH funding . Serving 54 families . 14 NM Counties . 22 years of combined experience . Only project in US. HISTORY OF THE PROJECT. HISTORY. 1956

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PRADER-WILLI SYNDROME

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  1. PRADER-WILLI SYNDROME Presented by: The Prader-Willi Syndrome Project for New Mexico

  2. . 1990 . Family lobbying efforts . DOH funding . Serving 54 families . 14 NM Counties . 22 years of combined experience . Only project in US HISTORY OF THE PROJECT

  3. HISTORY 1956 3 Doctors from Switzerland A syndrome is a set of characteristics Incidence Rate: 1:12-15,000 live births

  4. 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 GENETICS15th chromosome from father

  5. Incidence – less than 1/10 of 1% Mutation on father’s 15th chromosome Child can inherit the mutation Mosaic PWS INHERITED & MOSAIC PWS

  6. 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.

  7. 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) Criteria for Prompt Diagnostic Testing

  8. 6-12 years 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). Criteria for Prompt Diagnostic Testing

  9. 13 years or older 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). Criteria for Prompt Diagnostic Testing

  10. HYPOTHALAMUS (dysfunction) Regulates Regulates Body Secretion Processes of & Hormones Functions

  11. . Delayed fetal movement . Weak cry & lethargy . Feeding difficulties . Delayed motor skills . Speech difficulties . Scoliosis/Hip Dysplasia . Myopia/Strabismus . Unbalanced , uncoordinated gait HYPOTONIA & FAILURE TO THRIVE

  12. 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 HYPOTONIANURSING IMPLICATIONSINFANTS

  13. Orthopedic evaluation Strabismus sometimes requiring surgery Vision screening Monitoring for scoliosis (surgery) Monitoring for hip dysplasia (surgery) HYPOTONIAChildren

  14. 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

  15. MALE HYPOGONADISM • Undescended testes • Small penis • Lack of growth spurt • Lack of secondary sexual characteristics • Infertility usual

  16. 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

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

  18. 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

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

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

  21. HYPOMENTIACognitive Strengths • Fine Motor Skills • Long Term Memory • Visual Perceptional Skills • Verbal Skills/Receptive Language • Artistic Abilities

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

  23. 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

  24. Hunger Hormone Ghrelin: is the 1st and only yet-described-appetite stimulating hormone. Dr. David Cummings an Endocrinologist at Seattle’s 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?)

  25. 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?)

  26. 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

  27. 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.

  28. Law of thermodynamics Energy In equals Energy Out Weight Maintenance

  29. 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.

  30. 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

  31. 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)

  32. Creates very low calorie needs

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

  34. 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.)

  35. 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 DANGERS OF MORBID OBESITY

  36. 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*

  37. 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

  38. 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)

  39. 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 Hypopigmentation Thicker saliva leading to dental problems SECONDARY MANIFESTATIONS

  40. FACIAL FEATURES

  41. BODY FEATURES

  42. HYPOTHALAMUS DYSFUNCTION • Brain arousal • Internal body temperature • Pain sensitivity • Inability to vomit • Reactions to medications is different • Symptoms of illness

  43. 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

  44. RECENT MEDICAL ISSUES • Gorging • Water Intoxication • Rectal Digging • Hernias • Gastro-Intestinal Complaints • Aspiration • Thyroid Problems • Acute Idiopathic Gastric Dilation

  45. CHECK THE BODY FIRSTINTERNALLY • X-RAYS • ULTRASOUNDS • LAB WORK

  46. 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 Complete metabolic panel: screening for potassium, sodium and calcium Bone Density for osteoporosis Monitoring for cellulites Thyroid exam Monitor for constipationand hernias Lipid panels – cholesterol,triglycerides, LDL and HDL The ANNUAL PHYSICAL

  47. THE HYPOTHALAMUS&EMOTIONS • Mood Swings • Disproportionate emotional responses • Longer calming time • Temper tantrums • Clinical depression • Psychosis

  48. THE HYPOTHALAMUS&BEHAVIOR • Obsessive/compulsive • Inflexibility • Perseveration • Stubbornness • Hoarding • Aggression/violence • Self-trauma

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