When we hold our baby with PWS most of us know something is not well. They are rarely able to breastfeed and they may have so little muscle tone that sometimes they remind us of a rag doll. Whether the diagnosis is soon or takes several years, the experience is shattering. We all go through a period of grief of lost hopes and anticipations for our child. Let your grief run its course and talk to your family and friends, especially those with a kind ear and a helpful hand. But remember there is one that needs your love most and that is your little baby. So let's look at how we can help them to overcome the many obstacles they may face.

What can we do when our child is diagnosed?

Social Interaction

Babies with PWS may sleep a lot and seem to lack energy for activity during the day. They may also rarely cry. This doesn't mean they are happy and don't need you. In fact, they need you more than any other baby. Since they don't have the energy to cry, they have few means to call attention to their needs; therefore the onus is on you to make contact. Social interaction starts at birth or even before. To encourage normal development in this area start as soon as possible. Skills have to be learned and opportunities should be presented.

Wake your child up after a reasonable amount of sleep and play with them during the day. Social skills are not learned by sleeping 22 hours a day. Hold them and carry them as much as you can, while you talk to them and point out things in their environment. Have your baby close to where you are during the day. Massages and cuddles will stimulate their sense of touch, while lots of intimate talking and eye contact will help them to learn social skills and facial expressions.

Arouse and excite your child to initiate interaction. Get their attention by tickling, saying their name or other tumble play. Then while playing, give some opportunity for your child to initiate the game by pausing yourself for short periods.

Physical Stimulation

Due to the low muscle tone, children with PWS are generally delayed in their developmental milestones. The earlier your baby starts using its muscles, the better they may develop. Because most have so little energy they rarely kick and sway their arms by themselves. It is therefore necessary to make moving their limbs as easy as possible for them. Try not to restrict them with clothes or nappies when playing with them. Provide lots of bright colored dangling and tinkling toys above their legs or arms to kick or swipe at. Find lightweight rattles and toys, which they can actually lift with ease.

Use hydrotherapy to learn other skills such as sitting, kneeling, crawling and standing. This can be done in the bath, pool or toddler pool with you. Because they feel weightless in the water, they may be far more active. Often they can bear their weight in the water but not on land. Most children with PWS will therefore love being in the water and swimming is one of the few sports most of them like.

There are plenty of opportunities to stimulate physical exercise by using gym equipment indoors and outdoors. Playgrounds are great. Visit different ones to encourage different experiences. Swings help the sense of balance. Climbing frames help concentration, coordination, balance and problem solving what body part to use. Slides and water slides are fun and many stairs are climbed in their enthusiasm. Joining a playgym or gymboree club provides also social interaction besides an intensive activity program.

Variety of Experiences

Many children with PWS are quite happy to play for hours with the same toy or game. Although their increased attention to their play may seem good, it may also reflect the initial stages of perseverance and obsessive/compulsive behaviours. They seem to find it difficult to move their attention to a new source of interest. It is therefore advisable to change their play setting regularly and introduce different toys during their play sessions, or come up with imaginative and different ways to play with the same toy if your child doesn't want to give up.

When your child goes to a Childcare Centre or Kindergarten, your little one is often left to his or her own play. In fact, they can play for hours in the sandpit. With so many active and attention-seeking children around, their carers have little time left to look after them, especially when they seem happy. Talk to your Day Care Centre or Pre-school about contacting Playcare to provide an extra worker or to arrange a volunteer community worker for your child's group. Then, there will be an extra pair of hands to take your bubby over the obstacle course or help them with learning games, children's songs and activities.

Feeding and Diet

Failure to thrive in the early years may be caused by the inability to feed well because of problems in the sucking reflex, which may be absent or not well developed and difficulty with swallowing. Gavage (tube) feeding is frequently recommended initially. When bottle-feeding is used there may be additional problems with falling asleep during feeds. There are special feeding bottles, such as the "Haberman Feeder", or special teats that may make bottle feeding easier. If your baby still doesn't thrive your paediatrician or dietitian may advise you to supplement the milk with a high-energy substance.

From the age of one to three or sometimes later your child starts to eat well and may ask for second helpings. This is a dangerous period as any parent finally likes to see their baby thrive.

Giving more food at this stage may rapidly lead to obesity. Thankfully, it is not difficult to introduce a diet at this stage. A diet low in fat, low in sugar and generally of small quantities with healthy food at snack times is recommended. You will find many tricks in the literature on how we can make it attractive and relatively similar to the rest of the family.

Be consistent with the diet. Let them believe in it. Be careful at Easter, Christmas and birthdays. Overeating at these times may increase requests for food following the event until they are back into the normal routine.

Don't feel sorry and let snacks, treats and specials sneak in. Once given it will be an issue time after time.

Sometime during the preschool or primary school years your child may start to forage at night, early in the mornings or in your absence. Some are better than others with controlling the urge to take food when available. All children are different in this respect, but whether they forage or not, all of them seem hungry all the time and can eat large quantities when given the freedom. For many people with PWS it will reduce stress when they know food is out of reach and not accessible. Therefore, and out of necessity, it is often a relief for the whole family when food is locked up.

Eating excessively and foraging for food may become an issue again in adolescence with increased awareness and freedom of movement outdoors.

Encourage family, friends, school personnel and carers to cooperate with their diet.

Pain and Temperature Sensitivity

Children with PWS often don't react to pain as other children. This is frequently referred to as an increased pain threshold. However, more importantly to us parents, this means also that the alerting system of the body, that tells them or us that something is wrong with them, is absent. Infections and injuries may go unnoticed when there are no outwards signs. Often it is only after they recover from an illness, that we reflect and realise that they seemed somewhat of colour before.

Fortunately, many are relatively healthy. Their responses to seeing blood or to the shock of the fall or injury will often bring us to them. Nevertheless, we should be watchful and take minor complaints of pain serious to some extent. Be aware of the Medical Alert Warnings for people with PWS.

Their temperature control and awareness seems often affected and so they may flush rapidly in hot weather, while freezing in cold weather. Be aware that hyper- and hypothermia can occur in your child. Help them to dress appropriately and keep an eye on fluctuating temperatures during the day. They may need to shed some clothes or put more on.

Intelligence and Behaviour

Most of our children will have mild to moderate learning disabilities or intellectual impairment. There is much support available these days to help them learn either by a home program or in special schools. Due to problems in the auditory processing field, with sequencing, short attention spans, organisation and lack of checking their answers, school progress is often limited. Learning by using visual and manipulative methods often works well. Support programs using tapes may improve auditory processes. Educational computer packages may also be beneficial. Reading and writing usually develop well, but weaknesses in math, beyond simple operations, and comprehension are often present, especially when abstract problem solving is involved. Learning may be slow, but much can be achieved.

Infants and toddlers with PWS are generally happy and loving children. Like all children they go through the toddler tantrums though. As with other developmental stages in PWS these may seem delayed in onset and prolonged in duration. Good and consistent management practices are essential to guide your child through this period. Sometime during the preschool or primary school years challenging behaviours may increase. Discussing these problems with your paediatrician, psychologist or psychiatrist may assist you in choosing an appropriate management or treatment option.

The Future

Prader-Willi syndrome has only recently been described. Research in the first two decades was limited by documenting the many features our children have in common and documenting the underlying genetic abnormality. The last decade has seen an explosion in research in searching for the underlying problems that lead to the symptoms of this syndrome. Presently, research is focussing on possible treatments for our children to alleviate the hormonal dysfunctions and behavioural and psychological problems. Advances in genetics, endocrinology, sleep and behavioural research are ongoing. There is hope for the future, as each generation seems to have a better chance to improve their quality of life.

Professional and Specialised Help

• Seek physiotherapy, occupational and speech therapy at an early age.
  
• Join a toy library to provide cheap variety in your play equipment.
  
• Join a multi-disciplinary Prader-Willi syndrome Clinic
  
• Join your local Prader-Willi support group like ours and talk to other parents in the same situation.
  

By E. Scheermeyer PhD,
Coordinator Prader-Willi Syndrome Association of Queensland (Australia) Inc.
With thanks to the following pediatric specialists on PWS: Dr B. Y. Whitman (USA) and Dr M. O'Callaghan (Australia) for a review of this documentation.