Prader Willi Symptoms and Treatment

Prader-Willi syndrome (PWS) is a rare congenital disorder that involves heart and orthopedic problems, coupled with decreased mental capacity and sex glands that produce little or no hormones. It was first identified by Andrea Prader and Heinrich Willi of Switzerland in 1956 and hence the name. The probability of occurrence of the syndrome is as low as 1 in every 10,000 live births. A sister syndrome, called the Angelman syndrome has also been identified complimentary to the Prader Willi syndrome.

Causes of Prader Willi Syndrome

Prader-Willi syndrome is caused by missing genetic material on part of the paternal chromosome during inheritance.

Symptoms of Prader Willi Syndrome

The severity and types of symptoms may differ from one patient to another depending upon the age of onset. Some common symptoms of the Prader Willi Syndrome age wise are:

In utero:

Below are the symptoms identified in case of a fetus suffering from the Prader Willi syndrome during the gestation period

  • Less fetal movement
  • Abnormal fetal position
  • Frequent polyhydramnios (high ratio of amniotic fluid)

At birth:

The following symptoms are common in newly born children at birth:

Infancy:

In case of infants, the symptoms below have been identified:

Childhood:

Young children have reported the following symptoms while suffering from the Prader Willi Syndrome:

Adolescence:

The following few symptoms have been identified among adolescent patients:

  • Delayed puberty
  • Short body stature
  • Morbid obesity
  • Excessive flexibility

Adulthood:

During adulthood, the following symptoms may be experienced:

  • Infertility
  • Hypogonadism
  • Lowly distributed pubic hair
  • Morbid obesity
  • Hypotonia
  • Learning disabilities/borderline intellectual functioning (cases of average intelligence are found sparingly)
  • Affinity towards diabetes mellitus
  • Excessive flexibility

General physical appearance (in case of adults only)

Certain common physical symptoms experienced by adult patients suffering from the Prader Willi syndrome are:

  • Nasal bridge is prominent
  • Small limbs with tapering fingers
  • Soft skin
  • Excessive fat, located around the central portion of the body
  • High but narrow forehead
  • Almond-shaped eyes with thin eyelids
  • Light skin and scanty hair
  • Sexual under-development
  • Frequent skin picking
  • Striae
  • Delayed motor development

Treatment

As a measure to control the obesity, calorie intake is limited to the minimum coupled with exercises. Growth hormone is often administered to improve physical strength and agility. In case of under developed reproductive organs, testosterone is administered. Any fall in the levels of sex hormones is often treated using the hormone replacement therapy.

Similar Posts:

GD Star Rating
loading...
GD Star Rating
loading...

Leave a Comment