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What is Rett syndrome?
Rett syndrome is one of the most frequently described rare and specific neurodevelopmental disorders affecting girls. In the literature, it is also referred to as Rett or Rett syndrome and belongs to the group of serious genetic disorders. Typically, Rett syndrome occurs in children who initially develop normally, but later experience a slowing down and regression of their functions. In practice, this means that Rett syndrome is a rare neurological disorder caused by a mutation in a specific gene.
One of the most important clinical features is the loss of communication, motor difficulties and specific hand movements, which almost always accompany this condition. It is also characteristic that children with Rett syndrome are unable to maintain eye contact, have difficulty performing purposeful movements, and their development ceases to progress harmoniously.
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The genetic basis of Rett syndrome
The main cause of the condition is a mutation in the MECP2 gene, which is located on the X chromosome. This genetic defect is responsible for the production of a protein that regulates the expression of other genes. The literature emphasises that the MECP2 gene encodes a protein that is extremely important for brain development. When abnormalities occur, a disorder with serious consequences develops.
A properly functioning MECP2 protein is essential for the normal development of neurons and synaptic networks. If a mutation causes it to malfunction, the body cannot correctly encode information relating to the maturation of the nervous system. As a result, the MECP2 protein fails to fulfil its role, leading to a regression of acquired functions.
This is because the causes of Rett syndrome are genetic in nature, and the condition is not caused by environmental factors or parental failings.
What are the symptoms of Rett syndrome?
The symptoms of Rett syndrome usually appear after a few months of normal development, typically between 6 and 18 months of age. Although each case is unique, specialists identify a set of symptoms that characterise Rett syndrome:
1. Loss of acquired functions
- partial or complete loss of previously acquired skills,
- speech regression,
- loss of acquired manual skills.
2. Characteristic hand movements
The most common symptom is stereotypical clapping, hand-wringing or other repetitive movements performed at chest level.
3. Mobility problems
- difficulty walking,
- motor disorders,
- mobility problems,
- the possibility of developing scoliosis.
4. Epileptic seizures
In many cases, epileptic seizures or a single seizure of an epileptic nature are observed.
5. Cognitive symptoms
Over time, this leads to disorders such as impaired cognitive function, difficulty concentrating and a reduced ability to interact.
6. Communication problems
The child may stop making eye contact, although this sometimes returns at later stages.
7. Breathing and sleep disorders
There are moments when the person suddenly holds their breath or hyperventilates.
It is precisely these early symptoms that are cause for concern for parents — at first, the girl develops normally, but then she begins to lose skills one by one.
Who is affected by Rett syndrome?
The condition occurs in girls, as boys with the full mutation do not usually survive to birth. The group most commonly affected by Rett syndrome consists of children in their second year of life, although regression may also occur before the age of one. In practice, children with Rett syndrome require round-the-clock care and intensive therapeutic stimulation.
Some cases may present with a mosaic pattern, in which case the symptoms are milder. In such situations, it can be more difficult to diagnose Rett syndrome.
Diagnosis of Rett syndrome
To diagnose the condition, a clinical examination, an analysis of the child’s behaviour and confirmation of a mutation in the MECP2 gene are required. Diagnosis involves monitoring development, taking a medical history and assessing regression. The key criteria include:
- loss of speech,
- motor regression,
- specific hand movements,
- inability to communicate,
- the loss of the ability to use objects purposefully.
In practice, the diagnosis is confirmed by a genetic test. A paediatrician or neurologist may recommend that a test be carried out if symptoms appear after the age of 6–18 months.
It is sometimes difficult to diagnose Rett syndrome at an early stage, as the symptoms may resemble those of autism, cerebral palsy or other conditions.
How is Rett syndrome treated?
At present, there is no curative treatment, but the management of Rett syndrome focuses on minimising symptoms and improving quality of life. Treatment involves:
1. Physical rehabilitation
It helps to minimise deformities, support mobility and reduce the risk of developing scoliosis.
2. Functional therapies
- improving cognitive function,
- alternative communication therapy,
- stimulating a child’s development.
3. Pharmacological treatment
It includes anti-epileptic drugs for epileptic seizures, as well as preparations to aid sleep and support the nervous system.
4. Family support
The condition affects the whole family unit, which is why psychological support is extremely important.
Although current treatments do not restore full health, appropriate rehabilitation and care significantly extend patients’ lives and improve their day-to-day functioning.
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Why is Rett syndrome so difficult to diagnose?
The condition is often confused with other neurodevelopmental disorders, particularly if the first symptoms appear late. Furthermore, Rett syndrome develops in stages — from a phase of stagnation, through regression, to a phase of relative stabilisation.
That is precisely why it is so important for parents to take action when their children start to lose skills they had previously mastered, or when they make unusual, repetitive movements.
Bibliography
- Publications on MECP2 mutations and chromosomal abnormalities
- Clinical reviews on the diagnosis of Rett syndrome
- Educational materials on genetic conditions
- Articles on rehabilitation and symptomatic treatment of Rett syndrome
- Studies analysing the development of children with neurological conditions
- Resources on rare genetic disorders and their progression
Read more
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