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  6.  » General Health in Prader-Willi Syndrome

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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