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General Practice 2023

SíPrader Willi syndrome: what é, featuresístics and treatment

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SíPrader Willi syndrome: what é, featuresístics and treatment
SíPrader Willi syndrome: what é, featuresístics and treatment

Prader-Willi syndrome is a rare genetic disease that causes metabolism problems, behavioral changes, muscle flaccidity and delay in development. In addition, another very common characteristic is the appearance of excessive hunger after the age of two, which can eventually lead to obesity and diabetes.

Although this syndrome has no cure, there are some treatments, such as occupational therapy, physical therapy and psychotherapy that can help reduce symptoms and provide a better quality of life.

Characteristics of Prader-Willi syndrome

Prader-Willi syndrome can be identified initially through the evaluation of characteristics that can be developed by babies, children and adults, the main ones being:

  • Muscle weakness: usually leads to the arms and legs looking very flabby;
  • Difficulty breastfeeding: this is due to muscle weakness that prevents the child from pumping milk;
  • Apathy: baby appears constantly tired and unresponsive to stimuli;
  • Underdeveloped genitals: small or non-existent.
  • Excessive hunger: the child is constantly eating in large quantities, and is often looking for food in the cupboards or trash;
  • Delayed growth and development: it is common for the child to be shorter than normal and have less muscle mass;
  • Learning difficulties: take longer to learn to read, write or even solve everyday problems;
  • Speech problems: delayed articulation of words, even in adulthood;
  • Body malformations: such as small hands, scoliosis, changes in hip shape, or lack of color in hair and skin.

In addition, it is still very common for behavior problems to arise, such as having frequent attitudes of anger, doing very repetitive routines or acting aggressively when something is denied, especially in the case of food.

In the presence of characteristics possibly indicative of the syndrome, it is important that the doctor is consulted so that diagnostic genetic tests are carried out in order to confirm the disease and, thus, be able to initiate the most appropriate treatment to promote quality of the person's life. To perform the test, only a small blood sample is needed, which must be collected in the laboratory, which is sent for DNA analysis.

What causes the syndrome

Prader-Willi syndrome arises when there is a change in the genes of a segment on chromosome 15, which compromises the functions of the hypothalamus and triggers the symptoms of the disease from birth.Normally, the change in the chromosome is inherited from the father, but there are also cases where it happens randomly.

How the treatment is done

Treatment for Prader-Willi syndrome varies according to the symptoms and characteristics of the child and, therefore, a team of various medical speci alties may be necessary, as different treatment techniques may be required, like:

  • Use of growth hormone: normally used in children to stimulate growth, which can prevent short stature and improve muscle strength;
  • Nutrition consultations: helps to control hunger impulses and allows to improve the development of muscles, providing the necessary nutrients;
  • Sex hormone therapy: used when there is a delay in the development of the child's sexual organs;
  • Psychotherapy: helps control changes in the child's behavior, as well as prevent the emergence of hunger impulses;
  • Speech Therapy: This therapy allows to make some advances related to language and the forms of communication of these individuals.
  • Physical activity: Frequent physical activity is important to balance body weight and strengthen muscles.
  • Physiotherapy: Physiotherapy improves muscle tone, improves balance and improves fine motor skills.
  • Occupational therapy: Occupational therapy provides Prader-Willi patients with greater independence and autonomy in daily activities.
  • Psychological support: Psychological support is important to guide the individual and their family on how to deal with obsessive-compulsive behaviors and mood disorders.

Many other forms of therapy can also be used, which are generally recommended by the pediatrician after observing the characteristics and behaviors of each child.

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