Knowing And Understanding About Prader Willi Syndrome.
WHAT IS PRADER-WILLI SYNDROME?
Prader-Willi Syndrome (PWS) means children with have poor muscle tone and their body cannot metabolise a large number of calories, which puts them at risk of cardiovascular diseases. Prader-Willi Syndrome (PWS) is a complex medical condition that affects boys and girls equally and continues to affect them throughout their lives. People with Prader-Willi Syndrome have an obsession with food and eating (some from about age 2), low muscle tone and balance, learning difficulties, lack of normal sexual development, emotional instability and lack of maturity. It has been estimated that about 1 in 15,000 people from all races are born with PWS – it is not inherited in 99% of cases. The name of the syndrome is derived from the names of the doctors who first described the disorder in 1956.
Every child is an individual and not every person affected by the syndrome will have all of the characteristics. They are also seen in varying degrees. Early diagnosis gives the child a more positive start with early intervention and sensible eating plans. PWS is a genetic disorder and an abnormality of chromosome 15 is seen in the majority of patients.
What are the signs, symptoms, and features of Prader-Willi syndrome?
People with Prader-Willi syndrome typically have mild to moderate intellectual impairment and learning disabilities. Behavioral problems are common, including temper tantrums, stubbornness, and compulsive behavior. Many affected individuals also have sleep abnormalities.
Additional features of this condition include distinctive facial features, short stature, and small hands and feet. Some people with Prader-Willi syndrome have unusually fair skin and light-colored hair. Both affected males and affected females have underdeveloped genitals. Puberty is delayed or incomplete, and most affected individuals are unable to have children (infertile).
The First Stage
There are two distinct clinical stages to the Prader Willi Syndrome. The first stage occurs from birth through to the ages of two to four. Babies are born with extremely low muscle tone, which means they will need to be fed initially by gavage or special teats. They also sleep a lot, so it is important that when awake they receive visual stimulation and interaction. The baby’s position needs to be changed from sleep to sleep so that they are not always Iaying on one side.
The low muscle tone means that it will take longer than normal to reach developmental milestones. There is a wide range for any child’s development but most children with PWS will reach these particular milestones as follows:
Smiling – 4 months
Independent sitting – 13 months
Single words – 21 months
Walking – 28 months
Sentences – 3.6 years
Early intervention in areas such as physiotherapy, speech therapy and occupational therapy is very important. The local PWS association or hospital can refer to services that may be free for families of special needs children.
The second stage
The second stage of the syndrome usually occurs from around 2 years, or in some cases later. Although diet remains the same, weight will start to balloon. This may be accompanied by a compulsion to eat and an obsession with food. If nothing is done to manage diet, or restrict food, then serious weight gain that can result in life threatening obesity will occur in 95% of cases. Early intervention means this outcome is no longer inevitable.
Changes in behavior may also become evident over time with tantrums, stubbornness and mood swings occurring. When the weight gain starts a special diet plan needs to be formulated in consultation with a dietician, so that growth needs can be taken into account. Exercise is an essential ingredient to help fight the calories.
re-published from http://www.pws.org.au general guide to Prader-Willi Syndrome
