General Health in Prader-Willi syndrome
The following information will give a general idea as to the health indicators in a person with Prader-Willi syndrome. Use it as a checklist – it’s a very helpful synopsis to have on hand as your son or daughter reaches maturity.
What is more obvious
- Many are overweight
- Many wear glasses
- Many have back and joint problems
- Some have problems with oedema (fluid retention) and skin (dry, picking, sensitive)
What is less obvious
- Osteoporosis – up to 90% above age 30
- Diabetes – mostly Type II
- Heart and circulation problems
- Respiratory problems
- Stomach problems including constipation
- Sleep problems
What we need to know
- There will be different reactions to some medications
- Increased risk in psychiatric behaviour
- Different temperature sensitivity
- Different behaviour and psychology
- Temperature instability
- Different sleep pattern
Eyes and Teeth
- The need for glasses can come early
- Optician needs to be consulted every 2-3 years
- First teeth often have weak enamel. Second teeth can be strong.
- Sticky saliva means more brushing needed
- Dentist every 6 months
Spine
- KYPHOSES (curvature of neck and spine) because of weak neck and back muscles. Exercises can prevent permanent kyphoses
- SCOLIOSIS (‘S’ curvature of spine). Brace or operation needed
Legs and Feet
- There are often problems with hips, knees, feet – giving pain and having water retention
- Caused by overweight and weak muscles
- Feet: many walk on outer edges, some need special soles in shoes to prevent pain and worsening ‘turn out’
Legs and Feet
- There are often problems with hips, knees, feet – giving pain and having water retention
- Caused by overweight and weak muscles
- Feet: many walk on outer edges, some need special soles in shoes to prevent pain and worsening ‘turn out’
Skin
- Skin is ‘weak’ and bruises easily
- Skin is fair – increased risk of sunburn
- Skinpicking – something particularly ‘PW’
- Use bandaids, aloe vera, soft gloves, keep nails short
- Keep hands busy!
- Praise often for healed skin
- Prevent infection
Diabetes
- More often Type II which comes with overweight
- Can be inherited if in family
Treatment:
- Medication, weight reduction and diet
- Once weight reduced, medication can be lowered or ceased
- Untreated is a great health risk: eyes, kidneys, heart
Osteoporosis
- Seen in 90% after age 30 (USA)
- Seen in 30% adults after age 18 (UK)
- Caused from lack of sex steroids and growth hormone
- Risk of fractures – often overlooked
- Special scanning can show osteoporosis
- There is a need for Vitamin D and Calcium
Heart and Circulation
- Overweight is a disease risk factor
- Future GHT could be useful influence
- Circulation problems with Oedema
Respiratory
- Usually no lung disease, but can have small lung volumes
- GHT has good influence, with deeper breathing
- Apnoea –pauses in breathing – important to have this checked
- May need sleep mask (CPAP) to help breathing when asleep
Stomach and Intestines
- Possible weak intra-abdominal muscles
- Be aware of acute gastric dilation
- Can happen from overeating
- Particularly if person is on GHT, this can be fatal if unnoticed
- Be aware of a dilated abdomen, vomiting, paleness, and refusal to eat
Other Intestinal Problems
- Gallstones
- Constipation
- Bleeding from rectum (picking?)
- Gastric banding for overweight – in PWS this is exceedingly dangerous with risk of bursting, internal toxicity, death
- Gastroparesis
Hormone Deficiency
- As they reach adulthood, sex hormone therapy for males and females needs to be considered – seek advice from an endocrinologist
- Growth hormone – as a child – see advice from your paediatrician
- These hormone therapies are based on individual evaluation
- They will help prevent brittle bones, and early aging
- Also be aware there can be a Thyroid hormone deficiency
Medical Checklist
For PWS, include checks for
- Weight: monitoring weight is the most important
- Monitor blood pressure
- Have checks for respiratory (breathing), especially for sleep apnoea
- Have regular heart checks
- Watch for oedema (water retention),
- Keep an eye on dry skin, and skinpicking
- Regular visits to dentist
- Excess weight can put pressure on joints,
- The spine should be checked for scoliosis and kyphosis
- Blood tests for diabetes
- Blood tests for hormone therapies
- Expert advice from a Dietician
- Help from a Physiotherapist when needed
- Counsellor – talking about your concerns can help a person with PWS… it can also help the parent or caregiver.
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