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Slide 1: ADULTS with Prader-Willi Syndrome GENERAL HEALTH Susanne Blichfeldt MD Denmark April 2009 1
Slide 2: ADULTS WITH PWS A GROWING POPULATION Thanks to the care of the children with PWS 2
Slide 3: ADULTS WITH PWS SPECIAL CONDITIONS IN THE BODY THAT WE HAVE TO KNOW AND TAKE CARE OF 3
Slide 4: ADULTS with Prader-Willi Syndrome • GENERAL HEALTH ``the body and the soul`` • • • • LIVING: where and how organised SCHOOL and EDUCATION WORK SPORT... HOBBY....SOCIAL LIFE FAMILY LIFE 4
Slide 5: PWS…. Adults… after 18 years • Low mean height: women 148 cm • men 156 cm • Or about 14 cm shorter than siblings • • • • PUBERTY INCOMPLETE (physically immature) Before age 30 look younger.. after 30 look older Because of sex steroid deficiency (And perhaps also growth hormone deficiency?) 5
Slide 6: WHAT DO WE OFTEN SEE IN PWS? • Many are overweight, no appetite regulation • Many wear glasses • Many have problems with back and joints • Some have oedema and skin problems 6
Slide 7: WHAT WE DO NOT SEE at first glance • OSTEOPOROSES : up to 90% above age 30 • DIABETES (most often type II) • HEART and CIRCULATION problems • LUNG PROBLEMS • STOMACH PROBLEMS and CONSTIPATION • SLEEP PROBLEMS 7
Slide 8: something special in PWS • • • • • • • DIFFERENT REACTION to some medication DIFFRENT TEMPERATURE SENSITIVITY TEMPERATURE INSTABILITY DIFFERENT PAIN REACTION DIFFERENT SLEEP PATTERN DIFFERENT BEHAVIOUR AND PSYCHOLOGY Risk of: PSYCHIATRC DISEASES 8
Slide 9: EYES and VISION • Many have glasses • VISION IS SO IMPORTANT IN PWS • WHAT IS SEEN IS REMEMBERED! • • • • IN ADULTS WITH PWS THE NEED OF GLASSES CAN COME EARLY. ``EYE DOCTOR`` every 2-3 year From age 40: remember your glasses! 9
Slide 10: TEETH • First teeth have often a weak enamel • second teeth are strong if taken good care of! • • • • The too little saliva cleans badly, most often The best is to brush teeth after each meal! Dentist check every ½ year! Grinding teeth?? Ask the dentist! 10
Slide 11: THE BACK • KYPHOSES: ( bending of neck and back) Because of weak neck and back muscles. • EXERCISES can prevent permanent kyphoses • SCOLIOSES:S-form of the spine. • Brace or operation can be needed 11
Slide 12: LEGS AND FEET • • • • HIPS KNEES FEET Problems are pain and oedema because of overweight and weak muscles FEET: many walk on outer edges, some need special soles in the shoes, to prevent pain & worsening 12
Slide 13: THE SKIN • THE SKIN IS ``WEAK``, BRUISES EASILY • Take care of the sun! • • • • SKIN PICKING special for PWS! Put on `something`` a tape or a glove Promise and use praises for healed skin Prevent infections…and oedema! 13
Slide 14: OSTEOPOROSES: weak bones • 90% in PWS in USA after age 30 • 30% of all adults ( PWS) in UK from age 18 • Sex steroid ( and growth hormone) deficiency • • • • RISK OF FRACTURES! that are often overseen Special scanning will show osteoporoses Remember vitamin D and calcium 14
Slide 15: HEART and Circulation • OVERWEIGHT IS A DISEASE RISK FAKTOR • GROWTH HORMONE INFLUENCE? • CIRCULATON PROBLEMS WITH OEDEMA • (too much water in the body: a great problem) • Elevated blood pressure? Check needed 15
Slide 16: LUNGS • Most people with PWS have no lung disease but can have a small lungs • ASTMA can be seen also in PWS • Response to CO2 to breath is better when treated with GH, (deeper breath) • APNOE in sleep : long pauses in resp. • Abnormal breathing rhythm or block ? • CPAP treatment will help some 16
Slide 17: STOMACH and intestines • • • • • Are the intra abdominal muscles weak? ACUTE GASTRIC DILATATION Can happen with overeating! Or gastroenteritis? Contact he doctor when you see: dilated abdomen, vomiting and pale pt. • GREAT ATTENTION: IF THE PERSON WITH PWS WILL NO EAT !!! 17
Slide 18: Other INTRAABDOMINAL PROBLEMS • GALL STONES not so rare in PWS • CONSTIPATION can be treated • BLEEDING from the rectum ? Picking? • GASTRIC BANDING for overweight: can be VERY dangerous 18
Slide 19: DIABETES in PWS • Comes with overweight: BMI above 30/m2 • Often if type II diabetes is in the family • Test: fasting glucose if BMI is above 30! • • • • Treatment: Medication, weight reduction and diet When weight is reduced: often only diet Untreated? risks :eye, kidney, heart 19
Slide 20: PWS SPECIAL • SLEEP problems : very light sleep • fall asleep during the day • sleep apnoe • Temperature problems: no fever • do not feel hot when warm weather • Water intoxication: take care with medication for bed wetting and some neurotropic drugs 20
Slide 21: MEDICATION and ANAESTESIA • BODY COMPOSITION: low lean body mass: • small muscles and bones below the fat • A small volume for the medication: • Risk of overdose: neurotropics , anti-epileptics • anti-histamines ( for allergy) • medication in anaestesia • Advise: start with a low dose 21
Slide 22: SIGNS OF DANGER IN PWS • Do not want to eat • Vomiting • Unusual quiet an tired, just want to lie down • Do not want to sleep • Changed behaviour • Do not want to stand or use a limp: fractures? 22
Slide 23: PUBERTAL DEVELOPMENT • Most often incomplete if not treated • Early adrenarche(pubic hair), but no growth spurt • MEN: small genitals, high voices, no beard • WOMEN: many few or no menstruations • but not all women are infertile • Advise about sexuality needed for all 23
Slide 24: HORMONE DEFICIENCY IN PWS • SEX STEROID deficiency: many adults Growth hormone deficiency: many? • Thyroid hormone def.: not often but do test ! Always: an individual evaluation • Low doses of hormones can be needed • Lack of sex steroids: weak muscles • early aging ,osteoporoses 24
Slide 25: PWS and PSYCHIATRY • Adults with PWS have more often psychiatric diseases than others . Especially those with a genetic ``disomia`` Important to know it can happen. Can happen after stressfull situations Important to distinguis from behavioral problems: different conditions and treatment !! 25
Slide 26: PWS and Aging • Problems related to weight • Problems because of PWS, but not related to weight : lack of sex hormones ( and growth hormone ?) scolioses, vision, sleep etc. Problems in PWS because of special behaviour Psychiatric diseases ? 26
Slide 27: PWS TREATMENT WHAT CAN WE DO ? 27
Slide 28: What is important • • • • Prevent overweight which is: BMI above 27kg/m2 (kilos/ m x m) BMI above 30 : health risks (normal BMI is 19-24) • Overweight reduces motor activity • Overweight can give diabetes 28
Slide 29: WEIGHT and FOOD • 6 meals per day 3 big, 3 small • Could be: (or how it is convenient) • At times: 7 10 12 15 18 20.30 • It gives an even blood glucose profile and everybody feel secure, and not to discuss • Dietician once per year or more, always ! 29
Slide 30: A SPECIAL DIET ? • • • • • NO: Healthy low fat food. Special diets give risks for malnutrition Follow the advices of the dietician Don`t discuss the food at home, make a plan and make it clear that YOU take care • Be sure that the dietician know about PWS 30
Slide 31: Weight and Motor Activity • If you eat more energy than you us You put on weight • • • • There is energy in all food, but most in fat Raw and boiled vegetables are low in energy (but rich in vitamins) Fruit can elevate the blood sugar 31
Slide 32: PWS and physiotherapy • A contact minimum every ½ year, for a check of joints and muscles • Proposals for exercises and daily walking Daily program at home 5-10 min for joints • 2 times a week or more: exercises in gym • Horse back riding, swimming, dancing THIS IS THE MOST IMPORTANT SLIDE 32
Slide 33: Treatment with sex steroids ? • Based on individual evaluations, not needed in all cases • Small doses from 16 or 18 years old • Patches or tablets • To prevent osteoporoses • To prevent early aging (physically) 33
Slide 34: OTHER HORMONES Evaluation for growth hormone deficiency Also in adults with PWS Thyroid hormone deficiency can also be seen Corticosteroids . Extra need in acute situations? 34
Slide 35: THE NORDIC GROWTH HORMONE STUDY • Adults above age 18 • 23 participants started in Denmark, the same in Norway, 8 in Sweden • BMI of Danish participants at start: • Mean BMI 23 kg/m2, range 17,9-38,9 kg/m2 • Double blinded study • Effects on muscles, bone and activity 35
Slide 36: PSYCHIATRIC DISEASES • More often In PWS and if: • Important to diagnose and to treat • Medication can be needed, -sometimes only for a periode • Start with a low dose, some with PWS are ``slow metabolisers`` • interactions of medications can happen 36
Slide 37: MEDICAL CHECK LIST FOR ADULTS (PWS) • • • • • • Visit the doctor every ½ -1 year Write down questions before you go To check: weight and blood pressure. Lung and heart and circulation, oedema? Skin, teeth, joints, back Any medication ? Is the food OK ? Sexuality? • Need of ? : blood tests (hormones, diabetes)? • Dietician, physiotherapist, other specialists? 37
Slide 38: WHAT MORE TO REMEMER • REMEMBER THE LIFE STORY of the individual • WRITE DOWN a book: a diary about situations from daily life • This can be a very important document for the one with PWS • And also for caretakers and new contacts • How was he or she before? Changes? 38
Slide 39: And by the way • Persons with PWS are different, like we all are and we can enjoy their happy company • Many are struggling very hard , trying to do their bests, it is not easy to have PWS • Understanding all the needs of PWS, • This is the best support that we can offer 39
Slide 40: THANK YOU All my best wishes for you and our friends PWS 40
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