pws general health,adults rom,09,blichfeldt,25.4.9
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ADULTS with Prader-Willi Syndrome
GENERAL HEALTHSusanne Blichfeldt MD Denmark
April 2009
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ADULTS WITH PWS
A GROWING POPULATIONThanks to the care of the children
with PWS
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ADULTS WITH PWS
SPECIAL CONDITIONS IN THE BODYTHAT WE HAVE TO KNOW
AND TAKE CARE OF
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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
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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?)
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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
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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
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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
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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!
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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!
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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
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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
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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!
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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
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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
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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
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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
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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
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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
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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
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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
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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?
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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
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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
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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 !!
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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 ?
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PWS TREATMENT
WHAT CAN WE DO ?
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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
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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 !
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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
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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
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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
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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
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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?
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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
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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
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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?
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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?
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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
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THANK YOU
All my best wishes for you and our friends PWS
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