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CHILDREN  WITH  PWS MEDICAL  CARE Susanne Blichfeldt MD  Denmark April, 2009
Prader-Willi Syndrome <ul><li>a  very special condition </li></ul><ul><li>so many different  aspects and questions </li></...
PWS  daily  care <ul><li>Medical  care </li></ul><ul><li>Psychological care </li></ul><ul><li>Social  care :  understandin...
PWS : what is our goal <ul><li>A happy - healthy - child </li></ul><ul><li>no pain, happy days, friends </li></ul><ul><li>...
PWS is a genetic condition  The  genes ``missing´´ seems to cause  DYSFUNCTION OF THE  HYPOTHALAMUS <ul><li>Hunger - satie...
FLOPPY  INFANT
The newborn with PWS <ul><li>A very floppy  infant. Slight dysmorphology  </li></ul><ul><li>Very characteristic face expre...
THE FLOPPY BABY WITH  PWS  <ul><li>A VERY  QUIET  BABY </li></ul>
HOW to treat the child with PWS the first weeks <ul><li>Tube feeding  and  try  bottle feeding every 3-4 hours </li></ul><...
First year of life with PWS <ul><li>Gradually the child  ``wakes up´´ </li></ul><ul><li>The child  becomes a better ``eate...
FOOD?   FOR SMALL CHILDREN WITH PWS <ul><li>Food:  breast milk or formula the first months </li></ul><ul><li>then graduall...
Medical questions..small children <ul><li>Temperature instability : high or low temperature  CAN occur without illness ! <...
PWS:  growth and weight the first years <ul><li>Some are short at birth but not all </li></ul><ul><li>Some have low weight...
GROWTH HORMONE TREATMENT  recommended for most children with PWS <ul><li>Normal sleep study before is needed </li></ul><ul...
What more to check <ul><li>Eyes : squint often seen – glasses ?? </li></ul><ul><li>Teeth : enamel defects often seen in fi...
The child with PWS after 2-3 years <ul><li>More interest in food ..gradually  </li></ul><ul><li>Better motor function, gre...
The child after 2-3 years with PWS <ul><li>Regular weight control :  4-5 times per year </li></ul><ul><li>Height, muscle f...
THE  CHILD AND THE WEIGHT <ul><li>Weight  (normal)  at birth is around 2,5-4 kg </li></ul><ul><li>At 12 moths : around  9-...
HOW to help the child ? <ul><li>At 3-4-5 years of age  most children with PWS are VERY interested in food. </li></ul><ul><...
What is most important? <ul><li>To create  good habits: about </li></ul><ul><li>1. food, meals and eating </li></ul><ul><l...
A  HAPPY CHILD WITH PWS. Walks with support <ul><li>He  enjoys to move </li></ul>
Early intervention  is needed  to prevent obesity for that  reason! have a daily program
<ul><li>And then </li></ul><ul><li>something special  </li></ul><ul><li>in PWS </li></ul>
Bed  Wetting and  Water Intoxication <ul><li>Many are not dry during night after age 3-4 </li></ul><ul><li>Treatment with ...
WARNING!! Abnormal pain threshold <ul><li>WHAT DOES  THAT MEAN ? </li></ul><ul><li>ABDOMINAL CRISES  CAN BE OVERLOOKED </l...
Most asked questions <ul><li>Is there  a cure for PWS? </li></ul><ul><li>Any  medication to prevent obesity? </li></ul><ul...
The answers <ul><li>To most of these  questions  are: </li></ul><ul><li>no  </li></ul>
Behavioural management <ul><li>Look at developmental age : </li></ul><ul><li>where is he or she  ??? </li></ul><ul><li>Soc...
THE CHILD WITH PWS IN THE SCHOOL <ul><li>Normal weight is possible if the teachers are educated  and actively involved in ...
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Children Health Pws,Romania,09,Blichfeldt,24.4

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Children Health Pws,Romania,09,Blichfeldt,24.4

  1. 1. CHILDREN WITH PWS MEDICAL CARE Susanne Blichfeldt MD Denmark April, 2009
  2. 2. Prader-Willi Syndrome <ul><li>a very special condition </li></ul><ul><li>so many different aspects and questions </li></ul><ul><li>symptoms change during the years </li></ul><ul><li>not all children have all ``PWS-problems`` </li></ul><ul><li>but they have a lot in common </li></ul>
  3. 3. PWS daily care <ul><li>Medical care </li></ul><ul><li>Psychological care </li></ul><ul><li>Social care : understanding and treatment </li></ul><ul><li>So many aspects to take care of </li></ul><ul><li>So many persons involved </li></ul><ul><li>And : all need to know about PWS </li></ul>
  4. 4. PWS : what is our goal <ul><li>A happy - healthy - child </li></ul><ul><li>no pain, happy days, friends </li></ul><ul><li>strengths of the child to be cultivated </li></ul><ul><li>no misunderstandings and no unrealistic expectations but: respect for the child </li></ul>
  5. 5. PWS is a genetic condition The genes ``missing´´ seems to cause DYSFUNCTION OF THE HYPOTHALAMUS <ul><li>Hunger - satiety </li></ul><ul><li>Temperatur : instability & changed sensation </li></ul><ul><li>Pain : high threshold or changed </li></ul><ul><li>Endocrine : growth and puberty hormones </li></ul><ul><li>Salt balance in blood </li></ul><ul><li>Sleep : sleep cycles affected, day- sleeping </li></ul><ul><li>Behaviour is different from normal </li></ul>
  6. 6. FLOPPY INFANT
  7. 7. The newborn with PWS <ul><li>A very floppy infant. Slight dysmorphology </li></ul><ul><li>Very characteristic face expression </li></ul><ul><li>No cry, sleeps a lot </li></ul><ul><li>Shows no interest in food: </li></ul><ul><li>Can´t suck or swallow:>> tube feeding </li></ul><ul><li>Often luxation of joints:: hips, feet </li></ul><ul><li>Hypogonadism: boys: testicles ``down`` ? </li></ul>
  8. 8. THE FLOPPY BABY WITH PWS <ul><li>A VERY QUIET BABY </li></ul>
  9. 9. HOW to treat the child with PWS the first weeks <ul><li>Tube feeding and try bottle feeding every 3-4 hours </li></ul><ul><li>Stimulation: wake up the child </li></ul><ul><li>Movement of the body </li></ul><ul><li>Physiotherapist can give advices, early! </li></ul><ul><li>Regular physiotherapy from now on! </li></ul>
  10. 10. First year of life with PWS <ul><li>Gradually the child ``wakes up´´ </li></ul><ul><li>The child becomes a better ``eater`` </li></ul><ul><li>But still often ``a very long meal`` falls asleep </li></ul><ul><li>Still a very easy child, few demands! </li></ul><ul><li>At one year : sit up, babble, more alert </li></ul>
  11. 11. FOOD? FOR SMALL CHILDREN WITH PWS <ul><li>Food: breast milk or formula the first months </li></ul><ul><li>then gradually introduce ``baby food`` at relevant age. </li></ul><ul><li>The small child often eats slowly and falls asleep when eating: many breaks and more meals than usual are needed. </li></ul><ul><li>The dietician is important for the child </li></ul><ul><li>calculate : calcium, iron and vitamins ! </li></ul>
  12. 12. Medical questions..small children <ul><li>Temperature instability : high or low temperature CAN occur without illness ! </li></ul><ul><li>but ask the doctor for a check ! </li></ul><ul><li>Sleep : The small child sleeps a lot, often. </li></ul><ul><li>falling asleep at meals is not a seizure </li></ul><ul><li>Seizures are rare, most often with fever </li></ul>
  13. 13. PWS: growth and weight the first years <ul><li>Some are short at birth but not all </li></ul><ul><li>Some have low weight at birth but not all </li></ul><ul><li>Often poor weight gain the first months </li></ul><ul><li>Growth can be slow but not always </li></ul><ul><li>(look at the child!) </li></ul><ul><li>Regular clinic-visits to check weight & length </li></ul><ul><li>Growth hormone treatment ? When ? </li></ul><ul><li>An often asked question </li></ul>
  14. 14. GROWTH HORMONE TREATMENT recommended for most children with PWS <ul><li>Normal sleep study before is needed </li></ul><ul><li>Normal examination of throat needed </li></ul><ul><li>Blood tests for all hormones and ``blood sugar`` </li></ul><ul><li>When to start? No rules! After sleep study! </li></ul><ul><li>Side effects ?: fluid retention first days, diabetes ? intracranial edema (rare) </li></ul><ul><li>Positive effects : growth, muscles, breathing and motor function. No effect on appetite ! </li></ul>
  15. 15. What more to check <ul><li>Eyes : squint often seen – glasses ?? </li></ul><ul><li>Teeth : enamel defects often seen in first teeth. Second teeth seems normal. sticky saliva . </li></ul><ul><li>Teeth brushing often, regularly! </li></ul><ul><li>Joints and feet: luxation? Right shoos </li></ul><ul><li>Spine : scoliose, rare early in life, seen later </li></ul><ul><li>Skin : sensitive, take care of the sun! </li></ul>
  16. 16. The child with PWS after 2-3 years <ul><li>More interest in food ..gradually </li></ul><ul><li>Better motor function, great variation </li></ul><ul><li>Better understanding </li></ul><ul><li>Some have severe speech problems </li></ul><ul><li>More awake </li></ul><ul><li>Special interests? Not very demanding </li></ul><ul><li>Still a rather mild and quiet child </li></ul>
  17. 17. The child after 2-3 years with PWS <ul><li>Regular weight control : 4-5 times per year </li></ul><ul><li>Height, muscle function : Growth hormone? </li></ul><ul><li>Spine and joints : check 2-3 times per year </li></ul><ul><li>Eyes and teeth : regular checks </li></ul><ul><li>Behaviour : advices are strongly needed! </li></ul><ul><li>Ideal : paediatrician 3-4 times per year </li></ul><ul><li>dietician: minimum 4 times p.year </li></ul><ul><li>physiotherapist: regularly </li></ul>
  18. 18. THE CHILD AND THE WEIGHT <ul><li>Weight (normal) at birth is around 2,5-4 kg </li></ul><ul><li>At 12 moths : around 9-11 kg </li></ul><ul><li>At 24 moths ( 2 years) 11-14 kg </li></ul><ul><li>At 3 years: 12-15 kg… and then 2 kg pr year! </li></ul><ul><li>IN PWS: the same is recommended! </li></ul>
  19. 19.
  20. 20. HOW to help the child ? <ul><li>At 3-4-5 years of age most children with PWS are VERY interested in food. </li></ul><ul><li>Without help a severe overweight is seen </li></ul><ul><li>Parents and teachers must help the child: to stop ..and leave the table. not to discuss </li></ul><ul><li>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 </li></ul>
  21. 21. What is most important? <ul><li>To create good habits: about </li></ul><ul><li>1. food, meals and eating </li></ul><ul><li>1. motor activity </li></ul><ul><li>Overweight and motor inactivity : </li></ul><ul><li>the biggest problems in PWS world-wide </li></ul>
  22. 22. A HAPPY CHILD WITH PWS. Walks with support <ul><li>He enjoys to move </li></ul>
  23. 23. Early intervention is needed to prevent obesity for that reason! have a daily program
  24. 24. <ul><li>And then </li></ul><ul><li>something special </li></ul><ul><li>in PWS </li></ul>
  25. 25. Bed Wetting and Water Intoxication <ul><li>Many are not dry during night after age 3-4 </li></ul><ul><li>Treatment with anti diuretics : </li></ul><ul><li>Take care that the child does not drink a lot before sleeping when taking this medication: </li></ul><ul><li>The water will stay in the body and dilute the blood causing low salt concentrations: </li></ul><ul><li>This can cause severe seizures ( cramps) </li></ul>
  26. 26. WARNING!! Abnormal pain threshold <ul><li>WHAT DOES THAT MEAN ? </li></ul><ul><li>ABDOMINAL CRISES CAN BE OVERLOOKED </li></ul><ul><li>If a child with PWS vomits or does not eat </li></ul><ul><li>the child can be very ill !!! </li></ul><ul><li>FEW COMPLAINTS WHEN BROKEN BONES </li></ul><ul><li>When a child suddenly cannot walk :X-ray !! </li></ul>
  27. 27. Most asked questions <ul><li>Is there a cure for PWS? </li></ul><ul><li>Any medication to prevent obesity? </li></ul><ul><li>Gastric banding ? </li></ul><ul><li>Any food better? </li></ul><ul><li>A special diet? </li></ul><ul><li>Autism disorder, psychiatric disorder ? </li></ul>
  28. 28. The answers <ul><li>To most of these questions are: </li></ul><ul><li>no </li></ul>
  29. 29. Behavioural management <ul><li>Look at developmental age : </li></ul><ul><li>where is he or she ??? </li></ul><ul><li>Social and cognitive ages can be different : </li></ul><ul><li>Always ask yourself: </li></ul><ul><li>what does he/she really understand </li></ul><ul><li>And then set the expectations after that </li></ul><ul><li>Clear messages: as for small children ! </li></ul>
  30. 30. THE CHILD WITH PWS IN THE SCHOOL <ul><li>Normal weight is possible if the teachers are educated and actively involved in the treatment of the child (PWS) </li></ul>

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