PRADER WILLI SYNDROME

SYMPTOMS

Prader Willi syndrome’s clinical manifestations differ among individuals. From childhood to maturity, the symptoms may change.

Infants

The following signs and symptoms may be existent from birth:

• Faces with distinct features
• Poor muscle tone
• Generally poor responsiveness
• Poor sucking reflex
• Underdeveloped genitals

Childhood to adulthood

Other signs appear in early childhood and last for the rest of one’s life, demanding careful management. These could include:

• Underdeveloped sex organs
• Food craving and weight gain
• Cognitive impairment
• Speech problems
• Poor growth and physical development
• Sleep disorders
• Behavioral problems

Early indicators of poor development, which can be indications of Prader-Willi syndrome or other illnesses, can be detected with regular well-baby checkups.

DIAGNOSIS

The diagnosis of Prader-Willi syndrome is usually made based on signs and symptoms. Often, a blood test can give a definitive diagnosis. This genetic testing can discover chromosome defects in your child that indicate the syndrome.

TREATMENT

Individuals suffering from this illness can benefit from early discovery and treatment, which can improve their quality of life. You’ll almost certainly work with a team of medical professionals to manage the condition.

Although precise treatments differ depending on the severity of the problems, most children with this syndrome will require the following:

• Human growth hormone (HGH) treatment
• Sex hormone treatment
• Certain therapies
• Good nutrition 
• Mental health care
• Behavior management
• Weight management
• Sleep disturbances treatment

Other therapies are also required. These may include managing specific symptoms or consequences discovered by eyesight exams, diabetes or thyroid tests, and scoliosis assessments.