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1087894639904-PRADER WILLI SYNDROME

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									                    PRADER WILLI SYNDROME

                          MEDICAL FOCUS


Prader Willi Syndrome is characterised by the individual having a distinct
pattern of abnormal growth and development, usually entailing:

 An intellectual impairment that is mild to borderline
 Developmental milestones such as sitting, walking and talking are
  generally delayed
 No satiety from eating and development of a constant appetite
 Short stature, small hands and feet and hypotanic, i.e. have low
  muscle tone and this results in poor gross motor skills
 High pain tolerance
 Sexual development is not complete. People with PWS generally do
  not reach full sexual maturity

GENERAL PROBLEMS
 Lack of Vomiting: This is though to be due to low muscle tone in the
  stomach, the absence of which may mask serious illness
 High Pain Threshold: As this may mask the presence of serious
  illness, if the individual complains of pain which is not readily
  observable it is always important to have it checked out by a GP or
  nurse
 Easy Bruising: Many individuals with PWS bruise easily and because
  of the high pain threshold, will sometimes be unaware of how the
  bruising came about
 Poor Blood Circulation: When this occurs the individuals hands and
  feet are blue sometimes in relatively warm weather
 Poor Body Thermostat: An individual may have unusually high or low
  temperature during illness, may exhibit erratic behaviour or tiredness
  during very hot or cold weather, may always feel hot/cold no matter
  what the temperature outside the body is and hence dress
  inappropriately
 Sticky Slivia: The so called “sticky-saliva” is thicker than normal and
  causes “crusting “ around the mouth, especially at the corners. This
  can make chewing and swallowing more difficult and can contribute
  to greater dental decay if teeth are not cleaned regularly
 Skin Picking: This means the individual picks or scratches at a certain
  part(s) of their body, which can have medical implications if the
  wound becomes infected
 Bone Development: The body of a person with PWS may not
  assimilate the calcium he/she takes in resulting in osteoporosis

Two Clinical Phases of PWS: Adapted from H. Zellweger, 1988

Phase 1:
  Moderate to severe neonatal hypotonia
  Poor suck
  Difficult feeding
  Hypogonadism
  Marked delay in milestones

Phase 2:
 Much less hypotonia
 Short stature
 Hyperphagia
 Increasing obesity
 Labile emotions, stubbornness
 Cognitive limitations

In the past complications of morbid obesity e.g. diabetes, cardiac or
respiratory complications deemed nearly all affected individuals to die
young. However increased awareness of the syndrome and more attention
to its management has significantly reduced the likelihood of early death.

Nutritional intervention for individuals with PWS is necessary throughout
life. Left untreated, infants with PWS fail to thrive, and children,
adolescents and adults become morbidly obese. Older children and adults
with PWS require significantly less energy to maintain weight than
unaffected adults do. This in combination with an uncontrollable hunger
results in morbid obesity. Weight management id difficult and requires
continuo supervision.
MEDICAL ISSUES THAT REQUIRE INTERVENTION

 MORBID OBESITY: The term is applied when there is a greater than
  100% increase over ideal body weight. At this point there is a high
  probability of the occurrence of:
                                  1. Hypoventilation
                                  2. Heart failure
                                  3. Diabetes Mellitus
                                  4. Hypertension
                                  5. Ulceration of the skin
                                  6. Cellulitis
                                  7. Decrease in ability to ambulate

 Marked PILMONARY HYPOVENTILATION and SLEEP APENA
  occur in obese adults
 Most common cause of PREMATURE DEATH in PWS is
  CARDIOPULMONARY FAILURE related to hyperventilation
 Severe cases of Hypoventilation require HOSPILATION where
  intubation and assisted ventilation is frequently necessary
 Some severely obese patients are CYANOTIC and have compensatory
  elevation of haemoglobin levels. Extreme shortness of breath in all
  activities including speaking is not unusual. Most patients with this
  degree of pulmonary compromise also are using bronchodulators,
  diuretics and cardiac medications
 CELLULITIS of the lower legs in association with obesity and stasis
  is common and tends to be chronic and recurrent unless there is a
  marked weight loss

								
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