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PRADER-WILLI SYNDROME

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Presentation on theme: "PRADER-WILLI SYNDROME"— Presentation transcript:

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 GENETICS 15th 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

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

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

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 , most testing around 70

16 HYPOMENTIA Cognitive Strengths
Fine Motor Skills Long Term Memory Visual Perceptional Skills Verbal Skills/Receptive Language Artistic Abilities

17 HYPOMENTIA Cognitive 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 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

25 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

26 MORBID OBESITY

27 MORBID OBESITY Medical 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 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

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

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

51 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

52 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.

53 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

54 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

55 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

56 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

57 WELL MANAGED PWS

58 ANOTHER

59 A BABY

60 AND TWO OTHERS

61 OUT & ABOUT

62 AT THE PROM


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