Prader-Willi Syndrome

Prader-Willi Syndrome.

Prader-Willi syndrome, also known as “PWS,” is a rare and complex genetic disorder in both males and females.  The condition affects many parts of the body due to genetic abnormalities of paternal genes specific to chromosome 15.

Symptoms of Prader-Willi Syndrome

Some symptoms of Prader-Willi syndrome are evident at birth but change over time.

Symptoms at Birth

The most common symptoms recognized at birth include:

As children grow their condition changes and other symptoms become apparent.

Childhood and Adolescent Symptoms 

hungry boy eating large breakfast.In early childhood and adolescence, the most common symptom of Prader-Willi syndrome is excessive appetite and continual hunger.  However, other characteristics can become apparent, which may remain throughout the child’s life and require close health management.

Early childhood symptoms include:

As a child matures, many of the most common symptoms of Prader-Willi syndrome are developmental delays, intellectual disability and behavioral problems.

Complications of Prader-Willi Syndrome

The conditions caused by Prader-Willi syndrome can lead to complications later in life.   The intense craving for food leads to obesity causing serious health conditions including:

Complications caused by inadequate hormone production includes infertility and osteoporosis.

Causes of Prader-Willi Syndrome

hunger hormonesPrader-Willi syndrome is caused by the partial deletion of a segment of chromosome 15 passed down by the father.  In most cases it is a random genetic error not inherited through multiple generations.

The most common symptoms of Prader-Willi syndrome are likely due to dysfunction of the hypothalamus.

This small endocrine organ at the base of the brain controls the release of hormones.  Thus when the hypothalamus isn’t functioning properly, hunger, growth, sexual development, sleep, emotions, and body temperature regulations are disrupted.

Diagnosis and Treatment

Diagnosis

Prader-Willi syndrome is diagnosed through a physical examination and a series of genetic tests.   Laboratory results from blood samples typically verify a suspected diagnosis.

The expertise of Dr. Joshua Smith, our pediatric endocrinology specialist, will determine an accurate diagnosis through a comprehensive medical evaluation and requisite testing.

Treatment

Prader-Willi syndrome is a genetic condition and has no cure.  However, there are established treatments to manage the symptoms to promote the health of a child into a high quality of life as an adult.

For example, Human Growth Hormone (HGH) can be administered and can promote effective growth, bone density and increase stamina.  Its positive effects not only help with physical but also behavioral development.

Other treatments including physical, occupational and speech therapies may also be helpful for the child.

Pediatric Endocrinology Specialist

Dr. Smith is the regions only pediatric endocrinologist and is specifically trained to properly diagnose and provide treatment of the symptoms caused by Prader-Willi syndrome.

If your child is experiencing any of the symptoms or conditions above, call Dr. Joshua Smith for an appointment or fill out the form below.

Other resources can be found at the Prader-Willi Syndrome Association.

Appointment Request Form - Dr. Smith

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