Sotos Syndrome

Sotos Syndrome

Sotos syndrome is a rare genetic disorder. It is characterized by accelerated body growth and somewhat delayed motor and language development in childhood. In adulthood, the typical symptoms are hardly noticeable.

What is Sotos Syndrome?

Sotos syndrome is a sporadically occurring, rare malformation syndrome. Accelerated growth with a disproportionate skull circumference (macrocephalus) and advanced (accelerated) bone age already occurs before birth. Motor, cognitive and language development is slowed down. In adulthood, normal intelligence often develops and the typical physical symptoms become unremarkable. For potassium deficiency explanations, please visit aviationopedia.com.

Sotos syndrome was first identified in 1964 by American endocrinologist Dr. Juan F. Sotos described. Using the example of five children, he determined the typical symptoms of the disease. More than 200 cases have now been described. The disease is very rare. It occurs in about 1 in 14,000 newborns. There is no familial accumulation. The disease occurs sporadically, mostly as a new mutation. Sotos syndrome is also known as cerebral gigantism.

Causes

In the majority of cases, the cause of Sotos syndrome is a point mutation in the NSD1 gene on chromosome 5. About 10 percent of cases involve a deletion of this gene. The disease is inherited in an autosomal dominant manner. It usually occurs as a new mutation (de novo). The corresponding gene encodes a histone methyltransferase that is involved in the regulation of transcription.

The offspring of those affected can inherit the disease up to 50 percent after the autosomal dominant inheritance. The risk of recurrence of Sotos syndrome is less than one percent in healthy parents.

Symptoms, Ailments & Signs

Sotos syndrome is characterized by excessive growth in childhood. Accelerated growth is already observed prenatally, so that birth often has to be initiated prematurely. Bone growth is also accelerated. The biological bone age is higher than the chronological age. The face acquires a characteristic shape.

is long and narrow with a broad and domed forehead and a high forehead hairline and a pointed chin. A skull anomaly develops with an increased distance between the eyes and a broadened bridge of the nose (hypertelorism). The palate is high and pointed and teeth erupt early. The body length is excessive with a large head circumference.

These symptoms are very typical and make you think about the diagnosis of Sotos syndrome at an early stage. However, there are also non-constant symptoms that occur to different degrees in the individual affected. Heart defects, scoliosis, malformations of the urogenital tract, increased tendon reflexes or seizures can occur. The risk of various tumors is often increased. Motor and cognitive development is delayed to varying degrees from patient to patient.

Developmental delays are common in fine and gross motor skills. There are problems with the coordination of movement and concentration. Learning to speak is also delayed, with greater comprehension of the language. However, all development steps can be achieved despite the slowed development. Children with Sotos syndrome have very different intelligence quotients. Intellectual disability is not typical of the disease, but it can occur.

The behavior of the children is often not conspicuous either. However, in individual cases, tantrums and aggressive behavior, sleeping problems, few social contacts and compulsive behavior have been reported. The extent to which these personality disorders are related to Sotos syndrome has not been clarified. It is also conceivable that this is the result of any exclusion.

Perhaps some caregivers overestimate the independence of the children due to the accelerated body growth. This can create the risk of being overwhelmed and can lead to aggressive behavior on the part of the children. However, there can also be some difficulties in the development of children. In newborns, for example, convulsions, febrile seizures, newborn jaundice, sucking difficulties with drinking and breathing problems and frequent infections of the upper respiratory tract often occur. Due to the advanced bone age in Sotos syndrome, the onset of puberty is also premature.

Diagnosis & course of disease

Even the characteristic symptoms of accelerated body growth allow the doctor to quickly make the suspected diagnosis of Sotos syndrome. The differential diagnoses of Sotos syndrome such as Weaver syndrome, Beckwith-Wiedemann syndrome, Fragile X syndrome, Simpson-Golabi-Behmel syndrome or deletion 22qter syndrome should be ruled out. Furthermore, the NSD1 gene can be examined for a gene mutation.

Complications

Due to the Sotos syndrome, the affected children suffer from a clearly delayed development. This complaint can also have a very negative effect on adulthood, so that complaints can also occur in old age. As a rule, patients are also dependent on permanent help from parents or relatives.

They suffer from heart defects and often from seizures. Mental disability also occurs, so that those affected have problems with coordination and thinking. Tantrums or general aggressive behavior also occur. The affected children also suffer from sleeping problems and are very often irritable as a result.

Due to the breathing difficulties, many activities or sporting activities are not easily possible for those affected, so that there are significant restrictions in everyday life. The respiratory tract is often affected by infections and inflammation. The treatment of Sotos syndrome is purely symptomatic and is usually not associated with complications.

However, with this syndrome, the life expectancy of the patient is reduced. Many everyday complaints can be alleviated by various measures, which should be taken especially in early childhood.

When should you go to the doctor?

Medical treatment by a doctor is always necessary for Sotos syndrome. It cannot heal on its own, so the patient is always dependent on treatment by the doctor. Early detection of the syndrome is the only way to prevent further complications. Since it is a genetic disease, it cannot be completely and causally treated. A doctor should be consulted for Sotos syndrome if the person affected suffers from significantly accelerated growth. The individual body parts are also excessively large, which can usually be seen directly with the eye.

Furthermore, heart problems or severe cramps often indicate Sotos syndrome. Tumors or severe intellectual disabilities can also indicate Sotos syndrome and should always be examined by a doctor. It is not uncommon for those affected to show aggressive behavior or other mental disorders.

At the first signs of Sotos syndrome, a general practitioner or a pediatrician can usually be consulted. Further treatment depends on the exact symptoms and is carried out by a specialist.

Treatment & Therapy

A causal treatment of Sotos syndrome is not possible. Multidisciplinary treatment of the patient right from the start is important. However, only symptomatic therapies can be carried out. Depending on the complications, phototherapy for jaundice, treatment of drinking difficulties and monitoring of blood sugar levels with regard to possible hypoglycaemia are already necessary in infancy.

General pediatric check-ups are designed to identify complications such as scoliosis or febrile seizures so that therapies can be initiated as quickly as possible. Due to the developmental delays, supportive measures should be taken at an early stage with the help of occupational therapy, speech therapy, early support or music therapy. All support measures are to be planned depending on the developmental level of the child.

The prognosis of the disease is good. In adulthood, with Sotos syndrome, a normal level of development is usually achieved with appropriate support. The physical symptoms also become unremarkable.

Prevention

Prevention of Sotos syndrome is not possible. It is a genetic condition that usually occurs sporadically. However, since Sotos syndrome is inherited in an autosomal dominant manner, up to 50 percent of the children of an affected parent can be affected.

Aftercare

As a rule, those affected by Sotos syndrome have very few or no special and direct measures and options for aftercare, so ideally those affected by this disease should see a doctor very early on to prevent other symptoms and complications from occurring to prevent. A complete cure cannot take place either, since it is a hereditary disease.

For this reason, if the person concerned wants to have children, they should definitely have a genetic examination and counseling carried out so that the Sotos syndrome cannot appear again in their descendants. Since no self-healing can occur, the affected person should consult a doctor as soon as the first symptoms and signs of the disease appear.

Those affected are dependent on various therapies, which can limit the symptoms. Sometimes the help and care of one’s own family is very important and useful and can help to prevent the development of depression and other physical ailments. As a rule, contact with other people affected by Sotos syndrome is also very useful, as this often leads to an exchange of information.

You can do that yourself

Patients with a diagnosed Sotos syndrome should be informed that some symptoms will usually regulate themselves again with advancing age.

In particular, the accelerated growth does not normally represent any further impairments in adolescence or at the latest in adult life. Children must therefore be informed comprehensively about the symptoms of the disease. In addition, people from the immediate social environment should also be informed about the health disorder and further developments. This procedure prevents unpleasant situations and can be very helpful for the child in coping with the disease in everyday life.

Since there are problems with the movement sequences, it is advisable for parents to train the fine motor skills with the child on a daily basis. Although physiotherapeutic measures are provided for in the treatment plan, targeted training should also be carried out independently and independently in everyday life. This improves mobility and supports well-being.

When dealing with the patient, calmness and sovereignty are particularly important. The behavioral problems can be very stressful for everyone affected. Regular time-outs help above all the legal guardians to be able to deal better with the adversities. Since a large number of those affected depend on support from their social environment for life, social stability should be established at an early stage.

Sotos Syndrome