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Sotos syndrome (symptoms, diagnosis and treatment)

Sotos syndrome is a rare congenital disease. The syndrome is named after physician Juan Sotos, who first described this condition in 1964. The cause is a change in DNA (genetic material).

Characteristics of the syndrome

Sotos syndrome has several characteristics. Not everyone has all the characteristics and the extent to which a characteristic is present also differs from person to person. Like all children, each child and adult with Sotos syndrome is unique.

People with Sotos syndrome have a characteristic physical appearance, which is most evident between the ages of 1 and 6. During childhood, the child grows much faster than average and therefore is much taller than his peers. A small child looks like a big child, with a larger than normal head. After the first 6 years, rapid growth slows down. Ultimately, most adults with Sotos syndrome are not much taller than average.

In the field of movement (motor skills), speech and language, the child develops more slowly, so they usually take longer to roll over, crawl and walk. One reason for this is that a child with Sotos syndrome often has lower muscle tone. He also tends to learn to speak a little later than the average child. His way of expressing himself when speaking is usually slower due to low muscle tone. The boy is taller than his peers but slower. This can cause frustration and behaviour problems. Because a child is older than his peers, the environment (school-day center) almost always expects too much of the child.

Most children with Sotos syndrome have mild to moderate intellectual disability.

Diagnosis of Sotos syndrome

Sotos syndrome can be diagnosed in infants and children. However, it is not a normal part of the newborn screening process in hospitals. Instead, doctors test it after noticing the symptoms. Symptoms can take months or several years to get a doctor to test for the disorder.

The doctor begins with a physical exam and collects the medical history. Discuss the symptoms and examine the child. They may also recommend radiographies, CT scans, and MRIs to rule out the possibility of other medical problems.

A genetic test is part of the process of diagnosing Sotos syndrome. The test will look for a mutation in the NSD1 gene.

It is common for children with Sotos syndrome to receive a diagnosis of autism spectrum disorder. Your doctor may recommend behavioral and other therapies that may help.

Treatment Options for Sotos Syndrome

There is no cure or specific treatment for Sotos syndrome. Instead, treatment focuses on treating the symptoms.

Treatment options include:

  • Behavioral or occupational therapy
  • Speech therapy.
  • advice to parents
  • Hearing aids for hearing loss
  • Glasses to correct vision problems
  • Medications to control ADHD, irritability, or aggressiveness.

There is no specialized center specifically for Sotos syndrome, but there are specialized centers that focus on overgrowth syndromes or features that also occur in Sotos syndrome.

Other treatments may be needed if you develop medical problems related to Sotos syndrome. For example, you may need regular heart and kidney exams. In addition, the risk of tumours and cancer may be higher, so periodic screening may be necessary.

A special diet is not required for Sotos syndrome, but it is important for children and adults to eat a balanced and healthy diet.

As we have mentioned, these children can present behavioural problems, such as restlessness, aggressiveness and hyperactivity. This hinders their ability to concentrate and hinders learning, for this reason, and since the origin of these symptoms is biological, the pharmacological route is usually resorted to. Among the most commonly used drugs, we have hydrochloride methylphenidate, which is also used in ADHD.

Additional health problems

In addition, there are health problems that may occur more frequently in children and adults with Sotos syndrome, such as heart and kidney abnormalities and epilepsy.

The consequences of Sotos syndrome for daily life are different for everyone. It depends, among other things, on the number of (medical) problems that the child and his parents have to face and the severity of them.

In general, the early years are the most drastic for parents. In the first year of life, muscle weakness and nutritional problems may be at the forefront, but the diagnosis is usually not yet made. The following years will be dominated by rapid growth, low muscle tone, and slower than average intellectual development. As the child gets older, the rate of growth slows and the child reaches a final height that is average, or just above average.

The consequences of Sotos syndrome for adults depend on medical problems, possible behavioral problems, and the degree of intellectual disability. The life expectancy of people with Sotos syndrome is generally normal. With all this it can be interpreted that many people who are born with this syndrome can have a full and normal life.


All the information we give you in this article is indicative as each child and each family is different and unique.


Carolina González Ramos

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