Rett Syndrome in Toddlers– Causes, Symptoms, And Treatment

What Causes Rett Syndrome?

Rett Syndrome is caused by a mutation in the X chromosome on the gene called Methyl-CpG-binding protein 2 (MeCP2). But, all who have MeCP2 mutation do not necessarily have Rett syndrome. The gene MeCP2 which contains instructions for brain development, does not function properly in individuals with this disorder.

The severity of the disorder or types of symptoms in a toddler with Rett syndrome depends upon genetic and environmental factors. These include the location of the MeCP2 mutation, interactions between individual sex chromosomes, and other genes making the symptoms either worse or protecting the toddler from the effects of the mutation.

Symptoms of Rett Syndrome

Toddlers with this disorder have the following symptoms-

• Their development takes place at a slow pace
• They can’t use their hands for purposeful work
• Irritability and crying
• A problem in cognitive development
• Difficulty with walking on the toes or taking big steps
• Spontaneous hand movements like rubbing hands together
• Sleep disturbance
• Digestive problem
• Problem with chewing or swallowing
• Unusual eye movement such as intense staring, crossed eyes, etc.
• Language skills decline and they develop social anxiety and may stop talking
• Breathing trouble

What Are The Different Stages of Rett Syndrome?

Rett syndrome has four stages:

Stage 1

This stage is the early onset or stagnation stage that occurs between 6 to 18 months and affects development. Development milestones do not take place in toddlers born with this disorder. These changes often go unnoticed as they are subtle and occur gradually.

Stage 2

At this stage, a toddler loses the acquired skills like purposeful hand movements, walking, and talking skills. Other symptoms include screaming or crying for no reason, hyperventilating, social withdrawal such as avoiding eye contact, and loss of interest in people also happens at this stage. This is a destructive phase or regression stage and occurs between the ages of 1 and 4 years. It can last for 2 months to 2 years.

Stage 3

This is a plateau stage when the intensity of symptoms like irritability and crying, hand use, and communication, etc. comes down and a toddler slowly shows improvement or recovers. It begins between ages 2 and 10 years and lasts for many years.

Stage 4

This stage is late motor development. It includes muscle weakness, reduced movement, and stiffness in the joints. This stage lasts for decades and begins between 5 and 25 years.

How is it Diagnosed?

Rett syndrome is diagnosed by a physical examination and detailed information about a toddler’s development and medical history. The diagnosis is done by observing the following symptoms-

• Abnormal hand movements like clapping or hand wringing
• Difficulty in walking
• Loss of speech
• Loss of natural hand use

A doctor may also recommend a genetic blood test to diagnose the change in the MeCP2 gene. Without a clinical diagnosis, this disorder may be difficult to diagnose. That is why it is essential to observe the signs and symptoms at the early development of a toddler. If a childcare provider suspects Rett syndrome in your child, genetic testing is needed to confirm the medical condition. Genetic counseling also helps to understand the changes in the gene and their effects.

Complications That Arise From Rett Syndrome

Some of the complications of Rett syndrome include the following-

• The toddler may suffer from a sleep disorder
• Delay in growth and poor nutritional level
• Problems with bowel movement and bladder such as constipation, inconsistency in urine and bowel movement, and gallbladder disease
• Fractures in bones and muscles
• Anxiety acts as a barrier to social functioning
• Life-long support in daily activities
• The lifespan of a person reduces. A person with this disorder may not live like the average person because of heart complications or other heart-related ailments
• Bones, joint, and muscle problems

Treatment Methods For Rett Syndrome in Kids

Though Rett syndrome is not curable, treatments for the same may provide support to a toddler. It may improve communication, social skills, and movement. There is a need for treatment even when the toddler grows up. The treatment and support should continue throughout life. However, the treatment of the syndrome requires a team effort.

In 2023, the U.S. Food and Drug Administration (FDA) approved a new drug, Trofinetide, to treat this disorder in children two years and above. This medicine reduces swelling in the brain, increases the protein in the brain, and prevents some cells from affecting brain development.

The following treatments will help children suffering from Rett syndrome-

Monitoring of Physical Health

Regular monitoring of physical health issues such as gastrointestinal, scoliosis, and heart problems is important and also requires a multi-specialty team.

Medicinal Support

Medicines will not cure this, but they will help control some symptoms of this disorder like difficulty breathing, sleep disorder, heart and gastrointestinal problems, and muscle stiffness.

Physical Therapy

Physical therapy along with assistive devices can help a lot to improve walking skills, hand movements, flexibility, and balance.

Speech And Language Therapy

This can improve the toddler’s social interaction and enhance the ability to learn non-verbal ways of communication.

Provide Feeding Support

Proper nutrition is crucial for the healthy and improved mental, physical, and social abilities of your toddler. If your child needs feeding support to prevent choking or vomiting, a doctor may place a tube directly into the stomach to help maintain adequate weight.

Intervention For Improving Behavioral Problems

Practicing good sleeping habits may help to prevent sleep disturbances. There are various therapies to improve behavioral issues.

Occupational Therapy

Occupational therapy may help the kid develop skills for daily activities like dressing, eating, and drawing.

Extra Support

The toddler may need extra support in schools or other public places.

Can it be Prevented?

There is no known way to prevent Rett syndrome. Most of the time, the genetic change responsible for the disorder takes place spontaneously. If you have a toddler or a family member with this syndrome you can reach out to your doctor for genetic tests and counseling.

Rett Syndrome is a rare neurodevelopmental disorder. The cause for this is the mutation of the MeCP2 gene. Scientists are studying if there are other genes involved in causing this syndrome in a toddler or an adult. This genetic disorder primarily affects female kids. It rarely affects males. This is not inherited.

It shows up after a child turns 6-months-old. Children with this disorder begin to lose coordination, speech, and use of their hands. Symptoms may then stabilize with therapies and medication for years. There’s no cure, but medicine, therapies, and other support help to manage symptoms, prevent complications, and improve quality of life.

FAQ’s

1. What is The Frequency of Rett Syndrome?

Rett Syndrome is very rare, and affects an estimated 1 in 10,000 females.

2. What Does Rett Syndrome Affect?

It causes loss of motor skills and speech, neurological, and behavioral problems. Other problems associated with the disorder are intestinal, breathing, orthopedic, and heart complications.