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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