Prader-Willi syndrome: what it is, symptoms and treatment

Prader-Willi syndrome: what it is, symptoms and treatment


Prader-Willi syndrome is a rare genetic disease that can cause learning and speech difficulties, behavioral changes, muscle weakness and delayed child development.

Furthermore, another very common characteristic of this disease is excessive hunger, especially between 1 and 6 years of age, which can cause weight gain, causing health problems such as obesity, high blood pressure or diabetes.

Although Prader-Willi syndrome has no cure, some treatments, such as occupational therapy, physical therapy and psychotherapy, may be recommended by a pediatrician to alleviate some symptoms and improve the person’s quality of life.

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Main symptoms

The main symptoms of Prader-Willi syndrome are:

  • Learning and speech difficulties, where the child takes longer to learn to read, write or communicate;
  • Excessive hunger, mainly in children aged 1 to 6 years, which can cause health problems, such as obesity, high blood pressure or diabetes;
  • Delay in sexual development, characterized by delayed puberty; absence of menstruation or reduced penis size;
  • strabismus, which is an ophthalmological change where there is a deviation of one of the eyes pointing in different directions;
  • Changes in facial features, eyes with an elongated and slightly sloping shape and a thin upper lip with downward-curving corners;
  • Delay in growth and developmentwhere the child is shorter than recommended for their age;
  • Muscle weakness, which can make some movements difficult or cause imbalances;
  • Sleep disturbance, such as daytime drowsiness and sleep apnea.

Furthermore, although children and adolescents with Prader-Willi syndrome are kind and affectionate, they may also exhibit behavioral changes such as temper tantrums, stubbornness, obsessive-compulsive behavior and rigidity.

Symptoms in Babies

Babies with Prader-Willi syndrome generally present apathy, where the child responds little to stimuli, and is underweight in the first months of life. Furthermore, babies with this syndrome also have slow neuromotor development and take time to sit, crawl and walk.

How the diagnosis is made

The diagnosis of Prader-Willi syndrome must be made by a pediatrician or general practitioner, through evaluation of the signs and symptoms presented and the person’s health history.

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To confirm the diagnosis, the doctor also requests a genetic blood test, which can be done shortly after the baby is born, to analyze DNA methylation. Additionally, other DNA analysis and FISH techniques can also help identify the specific genetic cause.

Possible causes

Prader-Willi syndrome is caused by an alteration in the genes on chromosome number 15, which compromises the functions of the hypothalamus and triggers the symptoms of the disease from the birth of the child. Generally, the change in chromosome 15 is inherited from the father, but in some cases this change can also happen randomly.

How the treatment is carried out

Treatment for Prader-Willi syndrome must be carried out by a multidisciplinary team, including a pediatrician, endocrinologist, neurologist, physiotherapist, speech therapist and psychopedagogue, and varies according to the symptoms and characteristics of each child.

Thus, the main treatments that may be indicated for Prader-Willi syndrome are:

  • Somatropina: a medicine that contains human growth hormone (GH), indicated to stimulate growth and improve muscle strength;
  • Sex hormone therapy: are recommended when there is a delay in the development of sexual organs;
  • Psychotherapy: to help control changes in the child’s behavior and avoid hunger impulses;
  • Speech therapy: to help with the development of speech and forms of communication;
  • Physical activities: regular physical activity, such as swimming, walking or dancing, is essential for maintaining body weight and strengthening muscles;
  • Physiotherapy: This therapy improves muscle tone, better balance and improves fine motor skills.
  • Occupational therapy: provides Prader-Willi sufferers with greater independence and autonomy in daily activities.

Furthermore, it is also advisable to consult a nutritionist periodically, to create a healthy eating plan according to individual nutritional needs, helping to control weight and preventing the emergence of chronic diseases.