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Learn More About Clinical Features of PWS

Not all people with PWS will have all of these features.

Low muscle tone
  • Infants with PWS hve low muscle tone. This generally improves over time. 
  • Adults often have decreased muscle bulk and tone.
Facial features
People with PWS have characteristic facial features.
  • narrow shaped head
  • almond shaped eyes 
  • down turned mouth  
Type 2 diabetes
  • Occurs in about 25% of adults with PWS.
  • This may be a particular issue for those who are overweight.  
  • The average onset of this type of diabetes is about 20 years of age. 
Eye problems

 

  • could include strabismus (60-70%) or abnormal alignment of the eyes, squinting and nearsightedness

 

Scoliosis
  • Occurs in about 40-80% of people who have PWS.
  • Varies in terms of age of onset and severity.
Respiratory problems
  • Respiratory problems occur in about 50% of people with PWS, most commonly related to weak chest muscles that can leat to increased infections (data source is a summary in GeneClinics). 
Bone fractures
  • Increased rates of bone fractures due to reduced bone mass can occur
  • May also have leg edema and ulceration (especially in obese people)
Osteoporosis
  • Osteoporosis can occur due to hormonal abnormalities and dietary limitations:
    • This often develops at a young age. 
    • Walking and weight bearing exercise can be helpful in reducing the risk of bone density problems.
    • Consider calcium supplements to reduce the risk for osteoporosis.
Seizures in 10-20%
  • Seizures occur in 10-20% of people with PWS 
Oral health
  • Dental cavities and other oral health problems may be increased. 
  • People with PWS often have thick saliva. This increases the risk of dental cavities. 
  • Good dental hygiene and regular check-ups are needed.
    Decreased pain sensitivity
    • People with PWS have decreased pain sensitivity and a high pain threshold. This may mask signs of infection and/or injury. 
    • Many people will not complain, even with a significant infection or injury.  

    What you can do:

    • Do not use report of pain as the only indicator of the seriousness of an injury or illness.  
      Bruising

      • Many people with PWS bruise easily. 
      •  It is important to note the cause and location of any bruises that occur during the day. 

      What you can do: 
      • Check all injuries.  Document the injury location and communicate clearly with parents.
      • Find out how the child handles pain.  Some may exhibit increased fatigue and irritability which can serve as a clue to an underlying condition.
      Abdominal illness
      • Severe abdominal illness can occur as part of PWS. 
      • Abdominal bloating, pain, and vomiting may be signs of a life threatening stomach illness.  If these symptoms are seen or reported, seek medical attention immediately.

      What you can do:

      • Monitor for bowel changes and problems. 
      • Work with parents and providers to ensure a high fiber diet with adequate intake of water.
        Sensitivity to medications
        • People with PWS may have increased sensitivity to medications.

        What you can do:

        • Consult with a doctor or other health care provider before giving medications that may cause sleepiness or drowsiness.

         

        Skin picking

         

        • Many children and adults exhibit skin picking.
        • Open sores are common and can lead to infection.
        • Insect bites can be the site of initial infection. 
        • Some children pick at various body openings.

        What you can do: 

        • Provide diversion activities.  
        • Keep hands busy (coloring, computer etc.). 
        • Monitor frequent trips to the bathroom.
        • Apply Band-Aids and teach basic first aid.
        • Apply lotion (serves as a diversion and also moisturizes).
        • Apply insect repellent when outside. 
        Appetite, anger, and temperature regulation

        PWS impacts the functioning of the hypothalamus. This region of the brain is responsible for many important, autonomic biological functions.

        • The hypothalamus is involved in appetite control. People with PWS never feel full and are always hungry. The technical term for this is hyperphagia or an inability to control appetite. It is not something that a person with PWS can regulate themselves.
          • The most challenging issues are overeating and obesity.  Overeating usually begins between 1-6 years of age. Food seeking behaviors include: hoarding or foraging for food, eating inedible foods, and stealing food or money for food. Poisoning, and food poisoning in particular, as well as choking are significant risks.
          • People with PWS have a reduced energy requirement.  They need a low calorie, well balanced diet with strict supervision of food access.  This needs to be combined with regularly scheduled exercise and activities.

        What you can do about appetite:

        • Work with a nutritionist to implement a calorie restricted diet.
        • Supervise and monitor all food.  Keep food and money out of sight (money buys food). Lock cupboards and refrigerators.
        • Weekly weight monitoring by school nurse may be helpful.
        • Growth hormone therapy may help.
        • Monitor eating as they may eat quickly and choke.
        • Provide careful supervision to ensure that people with PWS are not being taken advantage of by others in exchange for food. 

        The hypothalamus also helps control anger and rage. People with PWS often have abnormal emotional expressions and extreme bouts of anger.

        It is also involved in the regulation of temperature, water balance, and sleep patterns.

        It controls our body thermostat.  Body temperature may elevate very quickly with illness and high temperatures (see next bullet).

        • People with PWS often have altered temperature regulation. Therefore unexplained high and low body temps are common.
          • People may have little or no fever present, even with severe infections.
          • May have a quick response to high or low outside temperatures and exposure should be limited.
          • Make sure they do not get overheated or too cold.
          • If you suspect a child is ill, contact parents/nurse.
        Decreased growth hormone

          People with PWS have decreased levels of growth hormone.

          • This accounts for short stature, poor muscle tone, low metabolism, and high risk of osteoporosis.
          • Growth hormone also helps regulate blood lipids, increase bone density, increase muscle mass, and increase strength and endurance.
          • Growth hormone may help with the regulation of breathing during sleep.
          • Growth hormone replacement therapy is common among many people with PWS but should only be started after a careful medical evaluation by an experienced clinician.

            Altered reproductive hormones

              People with PWS often have altered reproductive hormones.

              • Very few people with PWS produce normal or even near normal levels of reproductive hormones.
              • They will often start puberty but not complete the process. They will often have early onset pubic and underarm hair growth.
              • Girls may never menstruate or have irregular menstruations.
              • Boys start to have voice changes but never start a growth spurt.
              • It is important to provide appropriate sex education.