Prader Willi Syndrome (pws) – Complex Genetic Disorder Affecting Appetite
Willi Prader Syndrome occurs in approximately one of every 15,000 people.Willi prader syndrome is caused by a lack of active genetic substance in a particular region of chromosome 15.These genetic changes occurs in early embryonic development.Dysfunction of hypothalamus leads to Prader-Willi syndrome.Hypothalamus is a small endocrine organ in the brain that controls many function of the body.
Symptoms of Prader Willi Syndrome
- A feeble, shrill cry in infancy
- Infants is not able to drink from a bottle because of weak muscles
- Mild cerebral retardation and learning disabilities
- Bad temper, stubbornness, and unmanageable behavior.
- Reduced motor skills
- Rapid weight gain
- A narrow face, almond-shaped eyes
- Have surprisingly fair skin and light-colored hair
- Underdeveloped gender organs
- Short physique
- Very small hands and feet in relationship to body
- Poor muscle tone
- Puberty is delayed or incomplete
- Sleep disorders.
- Strabismus,
- Scoliosis
- Osteoporosis
- Bed-wetting
- Dental problems
- Type 2 diabetes
- High blood pressure
- Heart failure
- Skin picking
- Low to normal IQ
- High threshold for pain
- Insensitiveness to temperature extremes
- Poor reflexes
- Unquenchable desire for food
Treatment for Willy Syndrome
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DNA-based Methylation-specific testing confirms the diagnosis of PWS.There is no treatment for Willy PraderSyndrome. Still, the physical problems caused by the syndrome can be managed as mentioned below
- Special nipples for feedings are required until muscles become stronger.
- Physical therapy and exercise helps improve muscle strength and coordination.
- Hormonal and surgical treatments can be considered if testicles remain inside the abdominal area instead of dropping down.
- Growth hormone replacement therapy to normalize height
- Evaluation and treatment of sleep disturbance
- Speech therapy can help children who are behind in their language skills
- Replacement of sex hormones at puberty produces adequate secondary sexual characteristics
- Firm limit-setting to treat behavioral problems; serotonin reuptake inhibitors are helpful for most individuals
- Weight control to avoid development of diabetes
- Calcium supplementation to keep away from osteoporosis
- Administering human growth hormone (Genotropin, Humatrope, Norditropin) improves muscle mass and growth
- Infants should be observed for strabismus, height, weight, and BMI to help then to give appropriate exercise and diet.
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