susanne blickfieldt.general health in pws zalau 2010
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Zalau, October 29, 2010
Susanne Blichfeldt
Denmark
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MAINTAINING GOOD HEALTH IN PWS
y AVOID OVERWEIGHT
y PHYSICALACTIVITY. KEEP THE BODY FIT
y LOVE
y MENTALBALANCE
y And something more....
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MAINTAINING GOOD HEALTH IN PWS
There are certain problems and diseases in PWS that
can be prevented or treated,
if the risks and symptoms in PWS are well known
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GENERAL HEALTH IN PWS
y Main subjects most often discussed
y GENETICS
y APPETITE, FOOD AND WEIGTH MANAGEMENT
y GROWTH AND HORMONES
y BEHAVIOURAND PSYCHIATRY
y for the daily management there are more symptoms to be
aware of
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SIGNS AND SYMPTOMS IN PWS
y Special signs and physical reactions with illness
y Special symptoms related to the organs in the body
y Special problems related to overweight
y Special situations related to age groups
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HYPOTHALAMIC REGULATION PROBLEMS
y A ppetite regulation
y Hormone regulation
y Temperature: regulation and sensation
y Sensation of pain
y Sleep and awake cycles. Falling asleep
y Muscle tone ?
y Behaviour ?
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TEMPERATURE AND PAIN AND PWS
y High temperature without disease : often seen in infants
y Infections without fever: common in all age groups
y Do not feel warm or cold as we do. Need help to dress.
y Pain: often only few complaints: ex: Bone fractures
y Intra abdominal diseases
y The doctor visited or called need to know about PWS.
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TO INTERPRET SYMPTOMS IN PWS
y Is he or she ill or not ill ?:
y We cannot rely on temperature alone in PWS
y We cannot expect the same pain reactions as seen in others
y We have to consider the general well being
y And also listen to the person with PWS
y Anything different from normal? What has happened ?
y The appetite and behaviour: any changes ?
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MEDICATION IN PWS
y The lean body mass is most often small:
y The medication is distributed in a very small body
y Side effects can be seen if the dose is too high
y Often best to start with low or half dose concerning :
y *Antihistaminesy * Medication for epilepsy
y *Medication for depression and anxiety
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SLEEP AND SEIZURES
y Sleep apnea: need for treatment ? CPAP ?
y Daytime sleeping. Falling asleep in the car
y Falling asleep at meals, often seen the first years:
y This is not epilepsy
y Epilepsy can be seen in PWS and must be treated
y Be aware of side effects
y Some medications for epilepsy are also mood stabilisers
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ANSTHESIA AND PWS
yMost often without problems
y Problems are seen because of overweight
y Awakening can be delayed, also in lean persons
y Information about PWS to anaesthetist is important
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ORGAN RELATED SYMPTOMS IN PWS
y Eyes
y Hearing
y Mouth and teeth
y Heart and lung
y Stomach, intestines and bladdery Legs and feet
y Spine
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EYES IN PWS
Strabismus, many are operated
Short-sightedness
Longsightedness
Need of glasses ?
Change of vision over years: Ophthalmologist every 2-3 years ( for all)
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HEARING IN PWS
y Hearing in PWS : we have very little literature
yWhen to test:
y In infancy and early childhood
y During school age
y Especially when speech is delayed
y In the elderly (2-3 years interval)
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MOUTH AND TEETH
y Little saliva, often not enough to clean the teeth
y First teeth have often weak enamel
y Second teeth are often healthy, if taken good care of
y Teeth grinding can be seen.
y Reflux from stomach ? Coca cola ? acid harms teeth
y Tooth brush after each meal ! Dentist every -1 year
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HEART AND LUNGS
HEART: Congenital heart disease is rare in PWS
Problems arise after years with severe overweight
LUNG:Ventilation become restricted with severe
overweight or with severe scoliosis.
Also persons with PWS can have allergy and asthma,
and if so, they will need treatment for that
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THE STOMACH AND PWS
y The stomach easily becomes distended when full
y Vomiting is rare in PWS: it is difficult to empty
y Some may eat hair: makes a ball in the stomach
y The big risk for gastric rupture: after binge eatingy The pain is often little and complaints are few !! but
THE PERSONWITH PWS DO NOTWANT TO EAT
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INTESTINESy CONSTPATION:
yMost often in infancy and later in adulthood
y Complaints might be few . It is easy to treat
y Can be the reason for both rectal and urinary
incontinence
y RECTAL PICKING ?: Limit the time alone in toilet
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BLADDER & URINARY SYSTEM
yMost children achieve control, but often delayed
y Enuresis (bed wetting): be aware of drinking!
y Incontinence: with overweight? with age?
y Urinary infections: with poor hygiene and overweight
y Treatment:y Toilet visits at fixed hours.
y Empty the bladder. Use the time for it !
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WATER INTOXICATION IN PWS
y Can happen with medical treatment for enuresis.
y If too much water is drunken before going to bed.
y The water stay in the body and disturb the salt balance
yCan lead to seizures
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FEET and LEGS and OEDEMA
y FEET: Small children: need special shoes bracing the feet
y Children and adults: special soles, bracing shoes.
y LEGS: Oedema, often with overweighty Leg ulcers, often with oedema and overweight
y Nail infections ?
y JOINTS: Hips, knees, feet: overweight is harmful
y BROKENLEGS: not rare, can be overlooked ( no pain)
y OSTEOPOROSES: risk for fractures
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THE SPINE AND PWS
y SCOLIOSES:
y Often seen. Careful examinations needed
y Brace or operation can be needed, and can help.
y KYPHOSES :
y Often seen, caused by muscle hypotoniaDaily exercises prevent permanent fixed bending
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THE SKIN AND NAILS IN PWSy The skin can be vey sensitive to the sun
y Sun exposure:y Remember a light shirt, and a hat, better than sun factor
y Vitamin- D from the sun : yes, but take care
y Nails: biting nails ? need for help to cut the nails ?
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SKIN PICKING IN PWSy Can be a very big problem in PWS
y The reason is unknown.Associated to stress?
yMost often when there is nothing else to do
y The persons seems to become absorbed in the picking
y Sometimes even not aware they are picking ?y Treatment: keep the skin smooth, plaster on wounds,
y Occupation and rewards for healed skin
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WEIGHT IN PWSyWhat is the ideal weight or BMI ? (kg/ m x m)
y Or lean body mass? ( the body without the fat)
yWhen is a person overweight ?
y If the persons physical activity is limited because of
overweight, the weight is too high
y Achild should be able to move according to his/hermotor abilities
y It is also normal for adults to be able to run and jump
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HYPOGONADISMy Primary and secondary
y Both sexes.
y Cryptorchism: almost all newborn boys with PWS
y Often early adrenarche but:
y Puberty delayed and incomplete
yHormone replacement can induce puberty
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TREATMENT OF HYPOGONADISMy Treatment with sex steroids ( hormones) can start
y after individual evaluation : blood tests etc
y Careful and slowly induction of puberty
y In adulthood: continuous careful evaluation of need for
treatment and regulation of doses
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OSTEOPOROSESy Very common in adults with PWS
y Because of sex steroid deficiencyy And growth hormone deficiency ?
y and inactivity
y Vitamin D is important
y and calcium
y Hormonal replacement treatment must be considered
y
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WEIGHT MANGAGEMENTy Early intervention:
y Regular individual evaluation and advices by a dietician
y Advices and recommendations to be respected by all
y It is possible to avoid overweight if the conditions of the
disease is respected
y This means to have realistic goals
y and support : both for children, adults and family
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FOOD and MEALSy Normal low fat food
y Calorie needs vary a lot:
y depends on body size and activity
y 5-6 meals per day.
y NO eating between meals
y Meals are served like in a restaurant
y Persons with PWS do not buy or prepare food.
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MENTAL HEALTH IN PWS
Changes ?
Remember to write a status at least once a year
What is important?
To be happy and healthy and also with high self esteem
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SUMMARYy PWS related symptoms to know:
y Acute situations: different temperature and pain reaction
y hyperphagia, with anaesthesiay Every day, not weight related: eye and vision, dental care,
skin picking, a sensitive skin, scoliose and kyphose,
intestine and bladder function, sleepines and hyperphagia
y Related to overweight: heart and lung function, oedema,incontinence, leg ulcers, reduced motor function,
sleepiness, diabetes, side effects of medications
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With the right support it is possible to be happy and get around
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DAILY SUPPORT IS NEEDED ALSO AS AN ADULT
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ALL OVER THE WORLDWITH GREETINGS ALSO FROM GREENLAND