susanne blickfieldt.general health in pws zalau 2010

8/8/2019 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

susanne blickfieldt.general health in pws zalau 2010

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