PRADER-WILLI SYNDROME

DEFINITION:

 is characterized by severe infantile hypotonia

 reduction or absence of hormone secretion or other physiological activity
 developmental delay/mild intellectual disability; short stature; and a distinctive
behavioral phenotype
 is a genetic disorder due to loss of function of specific genes
HISTORY:
The syndrome is named after endocrinologists Andrea Prader, Alexis Labhart and
Heinrich Willi who were the first to report the pattern of abnormalities that are now
known to be symptoms of the syndrome.
These observations were further developed in the late 1960s and further
characteristics were identified to allow for differential diagnosis of Prader-Willi syndrome.
During this time, the syndrome was also recognised to have two distinct
phases during development. During Phase I the fetal activity is said to decrease, and poor
muscle tone and a failure to thrive emerges after birth. Phase II is associated with an
increase in weight, hyperphagia (excessive eating) and never feeling full.
The 1970s and 1980s saw the beginning of the discussion of behavioural, personality
and medical issues that are common in Prader-Willi syndrome.
The 1980s and 1990s saw the confirmation of the genetic cause of the syndrome
and the development of genetic tests for Prader-Willi syndrome and the genetic subtypes.
SIGNS and SYMPTOMS:
TREATMENT AND DIAGNOSIS
• Good nutrition for infants
• Human growth hormone (HGH) treatment.
• Sex hormone treatment.
• Weight management.
• Treatment of sleep disturbances.
• Various therapies.
• Behavior management.
• Mental health care
• Other treatments.
A definitive diagnosis can almost always be made through a blood test. This genetic testing
can identify abnormalities in your child's chromosomes that indicate Prader-Willi
MANAGEMENT
Infancy
 Special nipples or gavage feeding is usually needed to ensure adequate nutrition, as
poor suck will result in failure to thrive if untreated.
 Growth measurements (height, weight, and head circumference) should be
obtained and plotted
Childhood
  Strict supervision of daily food intake based on height, weight, and BMI is required
to ensure adequate energy requirements while limiting weight gain
Adolescence and adulthood
 Management of hyperphagia and prevention of obesity are much the same as in
children
 give smaller portions of carbohydrates such as potatoes, rice or pasta
 increase the amount of lower-calorie items such as vegetables, salads and fruit
 Exercise plays an important part in helping your child maintain a healthy weight.