What is prader willi syndrome, causes, symptoms and treatment

Prader-Willi syndrome is a rare genetic disease that causes problems with metabolism, changes in behavior, muscle flaccidity and developmental delay. In addition, another very common feature is the appearance of excess hunger after the age of two, which can end up leading 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 to reduce symptoms and provide a better quality of life.

Main features

The characteristics of Prader-Willi syndrome vary widely from child to child and are usually different according to age:

Babies and children up to 2 years

• Muscle weakness: it usually leads to the arms and legs looking very limp; Difficulty in breastfeeding: it happens due to muscle weakness that prevents the child from drawing the milk; Apathy: the baby seems constantly tired and has little response to stimuli; Undeveloped genitals: small or nonexistent.

Kids and adults

• Excessive hunger: the child is constantly eating and in large quantities, in addition to frequently looking for food in the cupboards or in the trash; Delayed growth and development: it is common for the child to be shorter than normal and to have less muscle mass; Learning difficulties: they take more time to learn to read, write or even solve everyday problems; Speech problems: delayed articulation of words, even in adulthood; Malformations in the body: such as small hands, scoliosis, changes in the shape of the hips or lack of color in hair and skin.

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

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 since the child's birth. Normally, the change in the chromosome is inherited from the father, but there are also cases where it happens at random.

The diagnosis is usually made through observation of symptoms and genetic tests, indicated for newborns with low muscle tone.

How the treatment is done

The treatment for Prader-Willi syndrome varies according to the child's symptoms and characteristics and, therefore, a team of several medical specialties may be necessary, as different treatment techniques may be necessary, such as:

• Use of growth hormone: it is normally used in children to stimulate growth, being able to avoid short stature and improve muscle strength; Nutrition consultations: helps to control hunger impulses and improves 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 to control the behavioral changes of the child, as well as to prevent the onset of hunger impulses; Speech therapy: This therapy allows to make some advances related to the 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 his 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.