What treatments are there to combat the low tone and lack of energy in many individuals with PWS? Exercise will increase the natural GH production and thus stimulate growth and strength. However, exercise is one of the hardest things to do for people with Prader-Willi.  There is also a limit to how much a person with PWS can exercise and how much you can encourage your child to do it.

Growth Hormone

There is now a consensus that growth hormone treatment has major benefits for people with PWS. When started early it may improve the height of children to within their parental range. When started at a later age it may still  improve their body composition, increase muscle strength and  stamina and benefit many other aspects of their life. It is available for all children with genetically proven PWS in the USA and the European Union. In some countries it is also available for adults.  Sadly in Australia it is only available with subsidy for children under the 1%.  This excludes a large proportion of children with PWS. A prescription for growth hormone treatment may be obtained from your endocrinologist if you are interested to buy it privately, but the cost of the treatment is astronomical.
A growth hormone trial will start in Australia soon.

Australian Trial

"I’m very pleased to be able to announce that Pharmacia have agreed to provide funding to support a short trial of growth hormone (GH) in children with Prader - Willi syndrome. The study will involve children aged 4 – 12.99 years in girls and 4 to 14.99 year in boys. GH will be given for a period of six (6) months. Children will be randomly assigned to one of two groups of different GH doses being given to the two groups. Extensive measurements of body composition, energy metabolism and behavior will be taken before GH commences and then again near the end of the six month period. The study is taking place in Brisbane, Melbourne and Sydney with twelve (12) children being needed at each site. The study should begin early next year once all the fine details have finalized. For further details or information please contact. Associate Professor Peter SW Davies on 3636 3765."

Assoc/Prof Peter Davies - Chief Investigator

 

CoQ10 (Coenzyme Q10 or ubidecarenone)

Recently the supplement CoQ10 has been mentioned around the world, on conferences and on the web as a means to combat the lack of energy in people with Prader-Willi syndrome. Coenzyme Q10 (CoQ10) or ubiquinone is a coenzyme necessary in people for the synthesis of energy and, since energy is necessary for all body systems to function, it may thus improve physical ability and activity in people with a low energy profile.

Most people with PWS lack energy and have skeletal muscle hypotonia. CoQ10 plays an essential role in the energy production as it functions as an electron carrier in the respiratory chain besides its role as an antioxidant (Linnane et al. 2002).

Since most energy production occurs in the mitochondria, a deficiency in CoQ10 and/or quantity and quality of mitochondria has been hypothesised in PWS. Presently no studies of CoQ10 levels in either the blood plasma or muscle tissue of people with PWS have been published.

A considerable proportion of people with PWS may have a deficiency of CoQ10 or have low blood plasma values when tested. Dr Butler at the 2001 International PWS Conference Scientific Session in Minnesota mentioned an average of 0.45 µg/mL (16 adults) while the normal range is 0.8-1.5 µg/mL (from his expanded sample after the abstract was printed). Dr Judy found that the majority of children, who were tested for this, had low plasma CoQ10 levels (mentioned in his pamphlet "Use of CoQ10 in Children with Prader-Willi Syndrome"). This pamphlet is an updated version of the first pamphlet and is based on a pilot study of a group of children with additional observations made by parents and professionals.

If you like to test your child for blood plasma CoQ10 please contact the office of PWSA QLD at 07-38481262 for referral to a lab that will test this.

We now have hope that supplementation with CoQ10 in children with PWS, especially those low in CoQ10 levels, may have beneficial effects. Through the pioneering work of Dr Judy with a pilot study of CoQ10 supplementation in children with PWS and his interest in the anecdotal observations from parents all around the world, we have some initial information. We are now looking forward to expand this research with controlled studies. Due to improvements in the skeletal muscle function with CoQ10 supplements gross and fine motor abilities may be obtained earlier. Infants may start to suckle and cry sooner than without supplementation, while older children may improve their speech. Obviously when the body has more energy, it is expected that it will function better. This in turn may have benefits in a wide range of areas.

Responses to CoQ10 supplements may be more rapid with infants than with older children and more pronounced with greater deficiency.

Presently there are many brands of CoQ10 on the Australian market, which may be obtained at chemists and health food stores without prescription. Only some are effective in raising the CoQ10 levels high enough in people with PWS. Soft gel capsules of CoQ10 in an oil base are recommended. CoQ10 should preferably be taken in the morning. In Australia, there is no quality control on bio-availability rating of CoQ10. You either have to trust the product of a reputable company or your health professional. It costs around Aus $ 30 to $40 for 60 capsules of 50 or 60 mg. The same source of CoQ10, that is used in the overseas pilot study, is available in Australia from Naturopaths etc. Please contact the PWSA Qld. Alternatively you may like to order products from overseas. However, note that customs adhere to the guidelines set by the Therapeutic Goods Department (TGA) on herbal preparations, vitamins and minerals for personal use. For full details visit their web site on www.health.gov.au/tga/docs/html/bringmed/persimp.htm

For more information and recommendations on the dosage of CoQ10 for your child, which is based on weight, I refer to the earlier mentioned pamphlet. They may be obtained by emailing sibrinc@cs.com or by contacting PWSA QLD. Discuss the use of CoQ10 with your child's health care provider.

Reference
Linnane AW et al. (2002) Human aging and global function of coenzyme Q10. Ann N Y Acad Sci 959: 396-411.

by E. Scheermeyer PhD, Coordinator PWSA QLD. With thanks to Dr Judy for sharing his information regarding CoQ10 and the pilot study.

Ghrelin

Presently much research is done on preventing obesity world wide. A number of hormones have been suggested to influence the hunger response. One of these is Ghrelin. The first studies on this hormone, including people with PWS, are encouraging and have led to more widespread research. Perhaps a treatment for the hunger feeling may be found in the future.