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Rett syndrome in children

Alexey Kryvenko, medical expert
Last reviewed: 05.07.2025

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Rett syndrome is a progressive degenerative disease of the central nervous system, predominantly affecting girls.

ICD-10 code

F84.2 Rett syndrome.

Epidemiology

The incidence rate is 1 in 10,000 people.

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Causes and pathogenesis of Rett syndrome

The genetic nature of Rett syndrome is associated with a breakdown of the X chromosome and the presence of spontaneous mutations in genes regulating the replication process. Selective deficiency of a number of proteins regulating the growth of dendrites, glutamine receptors in the basal ganglia, as well as disturbances of dopaminergic and cholinergic functions have been identified.

CT revealed multiple non-specific neuromorphological changes in the brain. EEG showed disturbances in bioelectrical activity. They suggest damage to the lower motor neurons, basal ganglia, involvement of the spinal cord, trunk and hypothalamus. Slowing of brain development after birth and its cessation by the age of four are characteristic. Slowing of growth of the body and individual organs (heart, liver, kidneys, spleen) is also noted.

Symptoms of Rett Syndrome

In typical cases, the onset of Rett syndrome occurs between 6 and 24 months against the background of apparently normal development. The clinical picture is divided into four stages.

Stage I (child's age 6-12 months) is characterized by slow growth in the length of the hands, feet, head circumference; muscle hypotonia.
In stage II (age of the child 12-24 months) there is loss of speech, intentional hand movements and acquired fine manipulative skills with the appearance of various stereotypical hand movements (wringing or washing hands, wetting hands with saliva, etc.). Most patients have breathing peculiarities in the form of apnea for 1-2 minutes, followed by hyperventilation. In 50-80% of cases, epileptic seizures of various types occur, poorly responding to treatment with anticonvulsants, extrapyramidal disorders in the form of muscle dystonia, ataxia, hyperkinesis.
Stage III (pseudo-stationary) covers a long period of preschool and early school age. The condition of children is relatively stable. Severe mental retardation, seizures, and extrapyramidal disorders come to the fore.
Stage IV is characterized by progression of motor disorders, changes in joints and spine. Patients lose the ability to move independently.