SíRett's syndrome: what é, featuresístics and treatment

Rett syndrome is a rare genetic condition that mainly affects girls and that damages the central nervous system, causing delay in physical and neurological development, generating typical characteristics and symptoms, such as frequent irritability, seizures and involuntary movements.

Children with Rett syndrome may have adequate infant development between the first 6 to 18 months of age, but gradually tend to lose learned skills, including walking, eating, talking, or even moving their hands.

Although Rett syndrome has no cure, some care such as physical therapy, speech therapy, medication use and psychotherapy help relieve symptoms and improve quality of life.

Main symptoms and characteristics

The onset of symptoms and characteristics, as well as the severity of Rett syndrome varies from child to child, being divided into 4 stages:

1. Stage I

Stage I, also known as the early deceleration stage, usually happens between 6 and 18 months and has some very subtle characteristics and symptoms that can go unnoticed, such as:

• Head circumference smaller than expected for age;
• Decreased interest in other people;
• Low muscle strength;
• Reducing eye contact;
• Lack of interest in toys.

In addition, during the first stage, the child may also experience developmental delays, such as difficulties in sitting or crawling. These signals can last just a few months or extend over more than a year.

2. Stage II

This stage begins between 1 and 4 years of age of the child, can last for weeks or months, and appears quickly or gradually, including the following symptoms:

• Excessive crying, even for no apparent reason;
• Frequent irritation;
• Loss of hand movement control;
• Repetitive hand movements, such as clapping and bringing the hands to the mouth;
• Changes in breathing, including stopping and increasing breathing rate;
• Swallowing excess air, which can cause bloating and gas;
• Decreased social interaction;
• Sleep changes;
• Speech loss.

During this stage, the child may also experience loss of postural control and difficulty moving and walking.

3. Stage III

Stage III, also known as the plateau stage, begins between 2 and 10 years of age. At this stage, the signs and symptoms can last for many years, as described below:

• Difficulty balancing while standing;
• Involuntary muscle contractions;
• Grinding teeth;
• Seizures;
• Display a small weight gain.

However, at this stage the child tends to cry and get angry less, in addition to showing greater interest in other people, improving the state of attention, communication and social interaction.

4. Stage IV

Also known as the late stage of motor deterioration, this stage begins after the age of 10 and can last for years or decades and the main symptoms at this stage can include:

• Gradual reduction of movements;
• Weakness and muscle stiffness, especially in the legs;
• Loss of walking skills, requiring the use of a wheelchair;
• Development of scoliosis;
• Frequent involuntary movements;
• Urinary and fecal incontinence;
• Urinary tract infection.

In addition, children at this stage may have involuntary tongue movements and excessive salivation, making it difficult to eat solid foods, which can cause choking, weight loss, reflux and constipation.

Despite the evolution of some signs and symptoms at this stage, children are able to maintain or improve communication and social interaction skills, in addition to having fewer seizures and repetitive hand movements.

How the diagnosis is made

The diagnosis is usually made by a multidisciplinary team, which includes a pediatrician, pediatric neurologist, geneticist and pediatric neurodevelopment specialist, who will evaluate the child's physical and neurological signs and characteristics.

To confirm the diagnosis of the syndrome, at least the following characteristics must be observed:

• Head circumference, which does not follow the ideal measurement from 5 months of age onwards;
• Partial or total loss of ability to move hands naturally;
• Repetitive hand movements such as twisting, clapping, shaking or rubbing hands;
• Difficulties interacting with other people;
• Lack of coordination of trunk movements;
• Partial or complete loss of speech;
• Development delay, such as difficulty sitting, crawling, and walking;
• Walking with your toes and legs stiff.

In addition, doctors may also order some additional tests to help reach the diagnosis, such as a blood test, urine test, MRI and electroencephalogram.

To complement the diagnosis, the doctor may also recommend a genetic test to look for a mutation in the MECP2 gene, a gene that is important for brain development and that is often affected in Rett syndrome.

What causes Rett syndrome

Rett syndrome is a genetic disorder usually caused by a rare mutation in the MECP2 gene. However, not all children with this genetic alteration can develop the syndrome.

Although it is very rare, having close family members with Rett syndrome can also increase the risk of developing the syndrome.

How the treatment is done

Treatment of Rett syndrome helps relieve symptoms, improving communication, social interaction, movement and quality of life for children and adults with the syndrome.

Treatment should be carried out under the supervision of a multidisciplinary team, including a neurologist, physical therapist, occupational therapist, speech therapist and nutritionist, and includes:

• Physiotherapy and hydrotherapy,that should be performed to improve muscle strength, posture and breathing, as well as relieve scoliosis and improve balance and gait;
• Occupational therapy,to help reduce repetitive motion and regain hand movements, improving daily activities such as eating and dressing;
• Speech Therapy,to aid in speech and non-verbal language, improving communication and social interaction;
• Nutrition,that promotes a balanced and adequate diet, helping to maintain proper development, in addition to preventing vomiting, reflux, constipation, choking and weight loss.

In addition, the doctor may also prescribe some medications that will help to reduce some symptoms, such as vomiting, seizures, heart, sleep or breathing problems.

Having a family member with Rett syndrome can be challenging and exhausting. Therefore, parents or guardians can also be advised to have psychotherapy sessions.

Hope of Life

Because it is rare, not much is known about the life expectancy for those who have the syndrome. However, children and adults with Rett syndrome usually live to age 40 or older.

Nevertheless, some situations, such as cardiovascular problems, pneumonia and epilepsy, can generate serious complications, which can be fatal in younger people.