Rett syndrome

The Rett syndrome is a complex developmental disorder that primarily affects the central nervous system and has a significant impact on children’s development. The consequences of this condition include delayed motor development and intellectual disability, which affect the child’s quality of life and future. The most characteristic feature of Rett syndrome is that it occurs almost exclusively in girls, as the inheritance is linked to the X chromosome. In boys, the disease rarely develops because a defect in the X chromosome can have severe consequences for the developing fetus.

The genetic defect that causes Rett syndrome usually appears as a new mutation and is not inherited from the parents. As a result, parents often do not know that they carry the faulty gene. In girls, the second X chromosome can compensate for the faulty gene, so the child is born alive, but the symptoms of the disease appear later. In boys, however, the defect in the single X chromosome can result in stillbirth. For these reasons, the diagnosis and treatment of Rett syndrome is a particularly important issue that deeply affects families.

The symptoms and developmental stages of Rett syndrome

The symptoms of Rett syndrome often begin only in the first 8-18 months of the child’s life, when development is progressing at a normal pace. The first signs, such as decreased activity or less frequent eye contact, are usually so mild that parents do not suspect illness. However, the child’s development later stagnates, and this stagnation becomes clearly noticeable around 16-18 months of age.

The regression in development affects not only movement but also includes the loss of previously learned skills. It is common for the child to forget words they had previously mastered, and their hand movements become clumsy. Characteristic, purposeless hand movements, such as hand-wringing or biting the hands, appear, which further complicates the diagnosis. Due to the involvement of speech and hand movements, assessing the child’s intellectual abilities becomes challenging, and Rett syndrome is often confused with other developmental disorders.

Half of the children learn to walk, but walking is often uncoordinated and clumsy. The posture is stiff, and the head size is below normal, as the growth of the skull also stagnates, which is part of the diagnostic criteria. Smaller head and limb sizes are common manifestations of the disease, which parents and doctors monitor during the diagnosis process.

The consequences and accompanying symptoms of Rett syndrome

Rett syndrome can cause numerous additional problems that affect the child’s quality of life. One of the most common accompanying symptoms is hyperventilation, which means rapid breathing and often involves prolonged breath-holding. Additionally, half of the children may develop epileptic seizures, which further increases parents’ concerns.

The sleep pattern is often irregular; children sleep little and superficially, and they can be irritable, which complicates their daily lives. Chewing and swallowing difficulties may also occur, as well as circulatory problems in the lower limbs, which cause further issues. Regular teeth grinding is also a common phenomenon among children with Rett syndrome.

The intellectual and physical decline generally lasts until the child is 5 years old, at which point abilities may begin to develop again. During this time, the child will be able to learn various things again, and their communication skills may also improve. However, this condition does not always stabilize; some children may experience further decline after the age of 10, but their intellectual abilities generally do not deteriorate further.

The development and treatment options

Developmental activities and special schools are exceptionally important for children with Rett syndrome, helping them to expand their abilities. The earlier development begins, the more favorable the outcomes. Various therapies, such as hydrotherapy and other alternative methods, are available to improve motor and intellectual skills.

Although there is currently no causal therapy, research continues, and hopefully, new treatment options will emerge in the future. It is important for parents to know that Rett syndrome is not inherited within the family, as it results from a new mutation; therefore, it is advisable to consult a genetic counselor before having children. This can minimize the risk of the disease recurring, allowing parents to make informed decisions about their future.