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CHILDREN WITH PWS
MEDICAL CARESusanne Blichfeldt MD
DenmarkApril, 2009
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Prader-Willi Syndrome
• a very special condition
• so many different aspects and questions
• symptoms change during the years
• not all children have all ``PWS-problems``• but they have a lot in common
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PWS daily care
• Medical care• Psychological care• Social care : understanding and treatment
• So many aspects to take care of• So many persons involved • And : all need to know about PWS
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PWS : what is our goal
• A happy - healthy - child
• no pain, happy days, friends
• strengths of the child to be cultivated
• no misunderstandings and no unrealistic expectations but: respect for the child
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PWS is a genetic condition The genes ``missing´´ seems to cause
DYSFUNCTION OF THE HYPOTHALAMUS
• Hunger- satiety• Temperatur: instability & changed sensation• Pain: high threshold or changed• Endocrine: growth and puberty hormones• Salt balance in blood• Sleep: sleep cycles affected, day- sleeping• Behaviour is different from normal
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FLOPPY INFANT
The newborn with PWS
• A very floppy infant. Slight dysmorphology • Very characteristic face expression• No cry, sleeps a lot• Shows no interest in food:• Can´t suck or swallow:>>tube feeding• Often luxation of joints:: hips, feet• Hypogonadism: boys: testicles ``down`` ?
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THE FLOPPY BABY WITH PWS
A VERY QUIET BABY
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HOW to treat the child with PWSthe first weeks
• Tube feeding and try bottle feeding every 3-4 hours
• Stimulation: wake up the child• Movement of the body • Physiotherapist can give advices, early!• Regular physiotherapy from now on!
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First year of life with PWS
• Gradually the child ``wakes up´´
• The child becomes a better ``eater``• But still often ``a very long meal`` falls asleep
• Still a very easy child, few demands!• At one year : sit up, babble, more alert
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FOOD? FOR SMALL CHILDREN WITH PWS
• Food: breast milk or formula the first months• then gradually introduce ``baby food``
at relevant age.• The small child often eats slowly and falls
asleep when eating: many breaks and more meals than usual are needed.
• The dietician is important for the child• calculate: calcium, iron and vitamins !
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Medical questions..small children
• Temperature instability: high or low temperature CAN occur without illness !
but ask the doctor for a check ! Sleep: The small child sleeps a lot, often. falling asleep at meals is not a seizure Seizures are rare, most often with fever
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PWS: growth and weight the first years• Some are short at birth but not all• Some have low weight at birth but not all
• Often poor weight gain the first months• Growth can be slow but not always• (look at the child!)• Regular clinic-visits to check weight & length• Growth hormone treatment ? When ?• An often asked question
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GROWTH HORMONE TREATMENT recommended for most children with PWS
• Normal sleep study before is needed• Normal examination of throat needed• Blood tests for all hormones and ``blood sugar``
• When to start? No rules! After sleep study!• Side effects ?: fluid retention first days, diabetes ?
intracranial edema (rare)• Positive effects: growth, muscles, breathing and
motor function. No effect on appetite!
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What more to check
• Eyes: squint often seen – glasses ??
• Teeth: enamel defects often seen in first teeth. Second teeth seems normal. sticky saliva.
• Teeth brushing often, regularly!• Joints and feet: luxation? Right shoos Spine: scoliose, rare early in life, seen later Skin: sensitive, take care of the sun!
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The child with PWS after 2-3 years• More interest in food ..gradually • Better motor function, great variation• Better understanding Some have severe speech problems
More awake Special interests? Not very demanding Still a rather mild and quiet child
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The child after 2-3 years with PWS
• Regular weight control: 4-5 times per year• Height, muscle function: Growth hormone?• Spine and joints: check 2-3 times per year• Eyes and teeth: regular checks• Behaviour: advices are strongly needed!• Ideal: paediatrician 3-4 times per year dietician: minimum 4 times p.year physiotherapist: regularly
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THE CHILD AND THE WEIGHT
• Weight (normal) at birth is around 2,5-4 kg• At 12 moths : around 9-11 kg
• At 24 moths ( 2 years) 11-14 kg
• At 3 years: 12-15 kg… and then 2 kg pr year!
• IN PWS: the same is recommended!
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HOW to help the child ?
• At 3-4-5 years of age most children with PWS are VERY interested in food.
• Without help a severe overweight is seen• Parents and teachers must help the child: to
stop ..and leave the table. not to discuss We can`t ask the child to be responsible for the
meals, this is to ask for the impossible. like asking the child not to have PWS
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What is most important?
• To create good habits: about• 1. food, meals and eating• 1. motor activity
• Overweight and motor inactivity:• the biggest problems in PWS world-wide
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A HAPPY CHILD WITH PWS. Walks with support
He enjoys to move
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Early intervention is needed to prevent obesity for that reason!
have a daily program
• And then something special in PWS
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Bed Wetting and Water Intoxication
• Many are not dry during night after age 3-4• Treatment with anti diuretics :• Take care that the child does not drink a lot
before sleeping when taking this medication:• The water will stay in the body and dilute the
blood causing low salt concentrations: • This can cause severe seizures ( cramps)
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WARNING!!Abnormal pain threshold
• WHAT DOES THAT MEAN ?• ABDOMINAL CRISES CAN BE OVERLOOKED
• If a child with PWS vomits or does not eat• the child can be very ill !!!
• FEW COMPLAINTS WHEN BROKEN BONES • When a child suddenly cannot walk :X-ray !!
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Most asked questions
• Is there a cure for PWS?
• Any medication to prevent obesity?
• Gastric banding ?• Any food better? • A special diet?• Autism disorder, psychiatric disorder ?
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The answers
• To most of these questions are:•
• no
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Behavioural management
• Look at developmental age: where is he or she ???• Social and cognitive ages can be different:
• Always ask yourself: • what does he/she really understand• And then set the expectations after that Clear messages: as for small children !
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THE CHILD WITH PWS IN THE SCHOOLNormal weight is possible if the teachers are educated and actively involved in the treatment of the child (PWS)
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