Prader-Willi Syndrome is a genetic disease caused by a change in parental chromosome 15 at the time of conception. The disorder is characterized by hypotonia (soft muscles) at birth, mental retardation, excessive food intake (hyperphagia), low production of sex hormones, low stature and delayed psychomotor development.
When babies are born, babies with Prader-Willi Syndrome have a weak cry and has difficulty to suck due to the low muscle tone, which makes breastfeeding difficult.
Hypotonia makes movement difficult and the child also has difficulty learning things and talking. Others signals and symptons include hormonal changes, scoliosis, emotional instability, socialization difficulty, and behavioral changes such as self-mutilation and obsessive-compulsive behavior.
The constant search for food appears between 2 and 5 years of age, leading to obesity, which is another striking feature of Prader-Willi syndrome. This uncontrollable hunger, known as hyperphagia, is due to a dysfunction in the region of the brain responsible for appetite control.
The loss of satiety causes the child to eat compulsively, making it difficult to control overweight. The result is the development of other health problems arising from obesity, such as diabetes and cardiovascular disease.
O treatment of Prader-Willi Syndrome is multidisciplinary, involving physicians neurologist, cardiologist, pulmonologist, orthopedist and endocrinologist, physiotherapist, nutritionist and psychologist.
Early introduction of new eating habits and exercise can help control weight gain by improving the quality of life and increasing the patient's life expectancy.
The use of growing hormone is important to combat short stature. Physical therapy helps improve muscle tone and increase muscle strength. Orthopedic treatment should also begin as soon as possible to correct bone deformities in the spine and lower limbs.
All therapeutic interventions aim to control the symptoms and improve the quality of life of the patient, since the Prader-Willi Syndrome there is no cure.
Neurologist and geneticist doctors are the experts indicated to diagnose the syndrome.
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