Rett Syndrome: Definition, 4+ Symptoms, Risk Factors, Causes, and Diagnosis

Rett Syndrome Definition

Rett syndrome is a genetic disorder that affects brain development. The condition that is more commonly experienced by girls will be seen symptoms at the age of 1 to 1.5 years.

Babies with Rett syndrome initially develop normally, then their development is inhibited. These obstacles occur gradually, ranging from late speech to motion disturbances.

Rett syndrome is a rare condition. Based on research, this condition occurs in every 1 in 15,000 births.

Rett Syndrome Symptoms

Symptoms of Rett syndrome vary, both from the age of the sufferer when the symptoms first appear, as well as the severity of the symptoms.

Most babies with Rett syndrome grow normally until the age of 6 months. After that, symptoms begin to appear. However, significant changes tend to appear only at the age of 1 to 1.5 years.

The course of Rett syndrome disease is divided into 4 stages, namely:

Stage 1 (stagnation)

Stage 1 is characterized by symptoms of difficulty when eating, abnormal and repetitive limb movements, late speech, difficulty moving (e.g. When wanting to sit, crawl, or walk), as well as less interested in playing. Symptoms of stage 1 are seen when the child is 6-18 months old.

Stage 2 (regression)

At this stage, the child’s ability can decrease drastically or slowly. Symptoms include repetitive and uncontrolled hand movements (such as squeezing or patting), fussing and screaming for no apparent reason, avoiding contact with others, unbalanced body during walking, sleep disturbances, sluggish head development, and difficulty chewing and swallowing. Stage 2 appears in the age range of 1-4 years.

Stage 3 (plateau)

This stage is characterized by improving symptoms experienced in stage 2. For example, the child becomes less fussy and pays more attention to others. The way the child walks and communicates also begins to improve.

However, there are some new symptoms that appear at this stage, such as seizures, irregular breathing patterns (e.g. Short breathing, then taking long breaths, or holding the breath), as well as the habit of grinding teeth. Some children even have heart rhythm disorders. This stage begins at the age of 2-10 years.

Stage 4 (deterioration in movement)

Stage 4 is characterized by deformity of the spine or scoliosis, weak and stiff muscles, as well as being unable to walk. On the other hand, the child’s ability to communicate and his brain function does not deteriorate, even repetitive hand movements and seizures begin to diminish. Symptoms of stage 4 last into adulthood.

Rett Syndrome Risk Factors

As a genetic disease, the risk factor for developing Rett syndrome is if the mother has this disorder or has a family with this disorder.

Rett Syndrome Causes

The cause of this disorder is still under research and it turns out to be quite varied. The most frequent cause of Rett syndrome is a mutation in the MECP2 gene located on the X chromosome. There are more than 200 types of mutations that can occur in this gene and cause symptoms of Rett syndrome.

In most cases, mutations occur sporadically (not inherited), so these abnormalities do not fall into the criteria of hereditary diseases. Nonetheless, there are some cases where both parents have normal chromosomes and mutations occur in the reproductive cells of one of both parents, usually from the paternal side. And in very rare cases, Rett syndrome can be inherited from a mother who has mutations on her X chromosome, but is not symptomatic.

Rett Syndrome Diagnosis

Diagnosis of Rett syndrome is determined based on clinical symptoms experienced by a child, in the form of:

• Loss of ability to move on the hands
• Loss of speech
• Decreased walking ability or inability to walk at all
• Repetitive movement of limbs

In some cases, a genetic examination of MECP2 is also required. This gene can be a sign of Rett syndrome. However, even if it is not found, it still does not rule out the diagnosis of this syndrome.

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Source:

• Image: Senorita666, CC BY-SA 4.0 https://creativecommons.org/licenses/by-sa/4.0, via Wikimedia Commons.
• Video: Texas Children’s Hospital