There are many different types of diseases and disorders affecting people all over the world. But among these conditions there are particular diseases that are being studied at the genetic level, as very interesting for geneticists. One of such diseases is the Prader-Willi Syndrome.
This disorder is a result of a deformation of Chromosome 15. About 1:12,000- 15,000 people suffer from this disorder, and, what’s interesting, the disorder is not limited to particular sex or sexes. This disorder shows variety of remarkable symptoms. They include: hypotonia, hypogonadism, hyperphagia, cognitive impairment, difficult behaviors and also obesity that a person has to live with for the rest of his or her life.
CHROMOSOME DEFICIENCY:
About 70 per cent of people with this disorder (PWS) do not have chromosome 15. This means that the appropriate functioning of their organisms is automatically disturbed somehow. This results from the fact that each and every chromosome has some function in the body and is responsible for something.
In case when one of them is not present in the body, some deficiency is guaranteed. The 15th chromosome has bands 15q11.2-q13, which represents precise importance concerning their functions.
The consequence of a chromosome absent in the genetic make up means that the space left in between has top filled up.
Due to the absence of chromosome 15, there is a different arrangement in the chromosome. About 1 per cent of all patients diagnosed with PWS have a balanced configuration of chromosomes.
Those who suffer from this disorder naturally represent all age groups. This is caused by the fact that the same children that are born with this syndrome grow up into adults demonstrating the symptoms.
AGE GROUP & THE RELATED PROBLEMS:
From birth until the age of two, children suffer from hypotonia and also poor suck. Children between two and six years old experience hypotonia that co-exists with a history of poor suck, and there are also a general developmental problems.
From six to twelve years of age, children have a history of hypotonia with poor suck, slow development, and overeating tendencies followed by central obesity. Obesity usually is a result of the uncontrolled eating.
Since the age of thirteen till adulthood, there can appear cognitive problems, often mild retardation of the mind, overeating, obesity, and hypothalamic hypogonadism problems.
A person needs to be cautious when s/he has not been diagnosed with PWS. That’s because such a person may think that the individual is an easy case due to the fact that s/he he eats a lot. However, in order for a person to be stopped from excessive eating, it is better to have a diagnosis done. Furthermore, a patient may also take note of characteristics such as appearance, speech, learning problems, etc.
BEHAVIOR PROBLEMS:
Behavior problems include serious struggles to obtain some food, which may be expressed in the form of outcries for food, being stubborn, inflexible, and thinking about food all the time.
Taking these emotions and efforts to obtain food under consideration, it is no wonder why they end up getting their way most of the time and putting on an excess amount of weight. In order to take care of this type of behavior strategies are usually developed and introduced. These may comprise setting up the patient’s environment, enforcing behavior management, and even medications therapy in some cases.
Apart from using an environment to restrain the patient’s eating behavior there is no means of inhibiting the patient’s eating through appetite suppressants.
So, alternative methods of controlling one’s weight are placed in action. The alternative that is commonly used and regarded as effective is a low-calorie diet along with vigilant supervision to make sure that the patients do not have any access to food.
Particularly for children, it is recommended that cabinets comprising food supplies should be locked.
