Prader-Willi syndrome (PWS) is a variable and complex genetic neurobehavioral disorder resulting from abnormality on the 15th chromosome. It occurs in males and females equally. Prevalence estimates range from 1:15,000 to 1:25,000.
PWS typically causes low muscle tone, short stature if not treated with growth hormone, cognitive deficits, incomplete sexual development, problem behaviours, and excessive, uncontrolled feeling of hunger which, coupled with a metabolism that utilizes drastically fewer calories than normal, can lead to excessive eating and life-threatening obesity
Infants with PWS may require the use of feeding tubes to obtain adequate nutrition. Children with PWS are prone to developing abnormal curvature of spine called scoliosis which can be treated with bracing, casting or surgery. Vision problems in PWS can be treated with corrective lenses or surgery. Many people with PWS have sensory integration deficits and benefit from sensory integration programs. They have decreased pain signals which masks injuries and illnesses. Individuals with PWS have anxiety, obsessive compulsive behaviour, temper outbursts lack of impulse control that can be managed with therapies and medications.
Early diagnosis and optimal clinical care can improve outcomes for people with PWS, and one proven intervention is growth hormone therapy. In PWS, growth hormone is effective not only in increasing height, but also in:
- Decreasing body fat
- Increasing muscle mass
- Improving weight distribution
- Increasing stamina and physical performance
- Improving bone health
- Positive effects on cognition, behaviour and quality of life
- Improved respiratory function
- Improved head circumference
Growth Hormone therapy, started in infants, as early as 3 months of age, significantly changes the natural history of PWS in a beneficial and clinically meaningful way.
By Dr. Kavitha Bhat, Sr. Consultant – Paediatric Endocrinology, Aster CMI Hospital
