RETT SYNDROME

Rett syndrome is a rare genetic condition that mainly affects girls and can have serious consequences on their neurological development. Due to its symptoms, Rett syndrome is often misdiagnosed as autism, cerebral palsy, or developmental delay. Despite the similarities, it is a distinct condition, with its own course of evolution and a set of symptoms.[1][3] The correct diagnosis is essential to provide the best treatment plan and to face the specific challenges of this disease. Continue reading to learn more about its causes and symptoms, as well as the treatment options available! 

What is Rett Syndrome?

Rett Syndrome is a rare genetic disorder that affects how the brain develops, causing a progressive loss of motor skills and speech. Although it is primarily found in girls, there are rare cases where it can occur in boys.[1]  

Causes of Rett Syndrome

Rett Syndrome is caused by mutations in the MECP2 gene. This gene is crucial for normal brain development, playing a role in producing a protein essential for the functioning of neurons, the nerve cells that transmit information in the brain. Mutations in the MECP2 gene can affect the production of this protein, preventing the normal functioning of neurons and leading to the symptoms of Rett Syndrome in children.

MECP2 gene mutations can be inherited from parents, but the majority of Rett Syndrome cases (99%) occur spontaneously, meaning the genetic mutation happens at conception or during embryo development. This means that most people with Rett Syndrome do not have relatives with the same condition.[1][2]

Symptoms of Rett Syndrome

Babies with Rett Syndrome are usually born healthy, following a pregnancy and birth without complications, and develop normally for the first six months of life. However, after this period, the first warning signs begin to appear. The most pronounced changes are observed between 12 and 18 months of life, a period in which symptoms develop from mild to severe, depending on the child.[1]

Symptoms include:

• slowed growth of the head - microcephaly (significantly smaller head size) sometimes represents the first sign of Rett Syndrome in children;
• coordination and walking difficulties, with a noticeable reduction in hand control and the ability to crawl or walk;
• purposeless, repetitive hand movements (clenching fists, clapping, hand-wringing);
• unusual eye movements;
• breathing difficulties;
• loss of verbal and non-verbal communication abilities;
• deterioration in behavior (increasingly frequent and pronounced episodes of irritability and crying);
• other abnormal behaviors (e.g., strange facial expressions, prolonged laughter, hand licking, tendency to grab and pull hair, clothes, etc.);
• intellectual disabilities;
• seizures;
• scoliosis;
• irregular heartbeats;
• sleep disorders.[1]

Stages of Rett Syndrome

Rett Syndrome has four distinct evolutionary stages, each with specific manifestations.

Stage I

The first stage, the early stagnation stage, starts between 6-18 months and can last several months or a year. Symptoms are usually subtle and easy to overlook. Alarm signs you might notice are:

• delayed growth of the head;
• loss of interest in toys and surroundings;
• hypotonia;
• delays in speech development;
• feeding difficulties;
• unusual, repetitive hand movements or jerky limb movements;
• delayed speech development;
• mobility problems.[1][2]

Stage II

This stage starts between 1 and 3 years, can last between 2 months and 2 years or more, and is marked by rapid regression. Symptoms that appear include:

• loss of the ability to use hands intentionally;
• episodes of irritability, screaming, or crying without reason;
• loss of interest in other people and avoidance of eye contact;
• walking and balance problems;
• sleeping problems;
• difficulties in eating, chewing, or swallowing;
• heart rhythm problems.

By the end of this stage, episodes of hyperventilation may occur.[2]

Stage III

This can start anytime between the ages of 2 and 10 and is the plateau stage, the stage of apparent stabilization, where some symptoms may improve. For example, improvements in behavior and fewer episodes of irritability or crying can be observed, the child may show greater interest in other people, seems more alert and communicates better, and even learn to walk again (if they couldn't before).

As symptoms of this stage, one can also mention:

• seizures;
• breathing problems;
• difficulties in gaining or losing weight.[1][2]

Stage IV

The fourth stage of Rett Syndrome, the late motor deterioration stage, usually starts after the age of 10 and can last for decades. It is characterized by:

• the development of scoliosis;
• reduced mobility;
• muscle weakness and spasticity.[1][2]

Communication abilities and hand movements do not tend to worsen in this stage. On the contrary, a slight improvement can be observed. Also, seizures may become less frequent.[1][2]

How can Rett Syndrome be treated?

To date, there is no cure for this disease, so treatment focuses on managing symptoms. Depending on the severity of the symptoms, the patient may benefit from various treatment methods and therapy:

• speech therapy - helps the child develop communication skills and learn to interact with others;
• physical therapy - can improve mobility;
• occupational therapy - can help the child develop the skills needed for autonomous activities (e.g., learning to dress or eat independently);
• medication - cannot cure Rett Syndrome, but can help manage some of the symptoms (e.g., seizures, muscle stiffness, breathing difficulties, sleep problems, intestinal symptoms).[1][2]

For correcting scoliosis, wearing a brace, surgical interventions, or other types of interventions may be recommended as needed. Medical devices such as ankle-foot orthoses or hand splints can be used to improve mobility and prevent self-injury. Additionally, participating in activities such as swimming or hydrotherapy can prove beneficial.[2]

At Centrokinetic, you will find a team specialized in the medical recovery of children with various conditions, including neurological disorders, who can determine what type of therapy your child needs and tell you what results you can expect.

Prognosis

The prognosis for Rett Syndrome is complex and significantly differs from one individual to another. While some children may retain some degree of hand control, walking ability, and communication skills, most will require 24-hour care throughout their lives.

Many children with Rett Syndrome reach adulthood, and those who are less affected can even live into old age. However, there are cases where patients die at a young age due to severe complications. Not much is yet known about Rett Syndrome and the lifespan/life expectancy of affected girls.[2][3]

Rett Syndrome in Boys

Rett Syndrome in boys is a much less discussed topic due to the fact that the syndrome largely affects girls. What is known, however, is that in most cases it is lethal - affected boys die before birth or in the first months of life. 

However, there is a small number of boys who have a different genetic mutation, resulting in a less severe form of Rett Syndrome. These boys can live to adulthood but will likely experience developmental and intellectual problems throughout their lives.[1]

Rett Syndrome cannot be prevented or cured. However, there are solutions to improve the prognosis and quality of life. Only a specialist can determine the right solutions for each child, after confirming the diagnosis and depending on the specifics of each case.

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