PRADER-WILLI SYNDROME

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

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

3. 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

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

5. 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

6. 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

7. 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.

8. HYPOTHALAMUS Regulates Regulates Body Secretion Processes of & Hormones Functions

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

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

11. HYPOTONIA & OBESITY • The complications of morbid obesity (30% or more overweight) happen sooner for persons with PWS because of the hypotonia

12. 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

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

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

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

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

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

18. 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

19. 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

20. 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

21. 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”

22. 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

23. 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

24. 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 FOOD STEALING

25. 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 DANGERS OF MORBID OBESITY

26. MORBID OBESITY

27. 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

28. 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

29. 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 SECONDARY MANIFESTATIONS

30. FACIAL FEATURES

31. BODY FEATURES

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

33. 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

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

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

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

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

38. 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

39. STRESS, BEHAVIOR & FOOD • Lack of food security = Hope = Disappointment = Stress = Behaviors • Food security = No hope = No disappointment = No stress = No behaviors

40. 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

41. 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

42. 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

43. 3 MAIN WAYS TO MANAGE PWS BEHAVIORS • STRUCTURE • CONSISTENCY • PREDICTABILITY

44. Structured daily plan Rules Reward Management System Consequence System Environmental Controls Communication Staff Supervision Food Security THE THERAPEUTIC MILIEU

45. 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

46. 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

47. 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

48. 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

49. 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

50. SUGGESTED INTERVENTIONS FOR PWS BEHAVIOR • Stubborn Opposition • Negativism, Arguing, Defiance • Perseveration • Temper Tantrums • Intermittent Explosiveness • Physical aggression • Skin Picking