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

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

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

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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