8 Rett Syndrome Treatments: Therapies, Medications, and Support

Parents and caregivers of children with Rett syndrome may feel overwhelmed when learning about treatment plans. The treatment of Rett syndrome focuses on supportive care. Children with Rett need a wide variety of therapies, medications, and monitoring, and for many, treatment plans are lifelong.

This article will cover eight supportive and medical treatments for Rett syndrome. Keep in mind, every person with this condition will need a comprehensive plan specialized just for them.

1. Physical and Occupational Therapy

Children with Rett syndrome lose the ability to control and coordinate their muscles. Parents and caregivers usually see children hit their developmental milestones until they’re 6 months old. After this, children may lose the skills to crawl, walk, and use their hands. Their muscles get stiffer and weaker, making it hard to move around. These changes are known as regression.

Physical therapy (PT) focuses on treating joint and muscle problems. The goal is to help children with everyday activities so they can sit, stand, and walk. Range-of-motion exercises stretch the muscles and prevent complications like permanent stiffening.

Occupational therapy (OT) helps children work on fine motor skills and activities of daily living. These activities include tasks like feeding themselves, bathing, and dressing. Occupational therapists also teach caregivers strength and endurance exercises their children can do at home.

PT and OT are key parts of a Rett syndrome treatment plan. Children with this condition can live more independent lives with the right guidance and regular exercise. Caregivers will also learn the tools their children need to build confidence and strength.

2. Speech Therapy and Communication Tools

Rett syndrome is a neurodevelopmental disorder that affects how children interact with others. Many children lose their ability to speak and communicate as the condition progresses. Caregivers can work with speech therapists to help children who are nonverbal. Speech therapists can also explain the latest technologies and assistive devices. Even if they can’t speak, children with Rett syndrome can still communicate and connect with friends and family.

Learning augmentative and alternative communication (AAC), or ways to interact besides talking, can help children with Rett syndrome improve their communication skills. There are many types of AAC, including:

• Picture boards
• Facial expressions or gestures
• Whiteboards for writing
• Tablets or computers with AAC apps

Speech therapists recommend every child with Rett syndrome have an AAC assessment. The best types of AAC devices will depend on the child, their symptoms, and their age. The devices and therapy sessions will change as children get older. High-tech AAC devices — like tablets — give children the most options for communication.

3. Trofinetide

Trofinetide (Daybue) is the only medicine currently approved by the U.S. Food and Drug Administration (FDA) specifically for Rett syndrome. It’s important to note that this medication doesn’t cure the condition. Instead, it helps children with daily functioning and improves their quality of life.

Trofinetide got FDA approval after going through special studies called clinical trials. Researchers compared the new medication to a placebo — an inactive treatment with no medicine. In the study, caregivers for children with Rett syndrome reported trofinetide improved symptoms better than the placebo. These symptoms included:

• Breathing problems
• Repetitive facial and hand movements
• Body rocking
• Behaviors at nighttime, like staying awake instead of sleeping

Trofinetide is a liquid solution. Parents and caregivers can give the medication by mouth or through a gastrostomy tube (G-tube, a tube is inserted directly into the stomach that delivers fluid and nutrients). Common side effects of trofinetide include diarrhea and vomiting.

4. Seizure Medications

Children with Rett syndrome are at risk for having seizures. The chance of a seizure rises as children get older. Doctors can prescribe anti-seizure medications to help. Examples include lamotrigine and valproate.

Studies show valproate may work better for children whose seizures started between ages 4 and 5. Lamotrigine may work more effectively for those who start having seizures after they’re 10 years old. Every child’s seizures are different. Some medications may work better than others — or not at all. Your healthcare team can help you choose the best medication for your child.

Around half of children with Rett syndrome and epilepsy have drug-resistant seizures. This means that many seizure medications don’t work for them. Other treatment options, like the ketogenic diet, may help.

A ketogenic diet is high in fat and low in carbs. Ketogenic diets raise ketone levels in the body. Ketones are molecules made from breaking down fats. Over the years, studies have shown that ketones help control seizures. One small study watched children with Rett syndrome who followed a ketogenic diet. Overall, they had fewer seizures after one year. Children with G-tubes can use special ketogenic formulas for better results.

5. Breathing Support and Treatments

Rett syndrome affects the muscles used to breathe. Children with this condition may breathe too slow or too quickly, which tends to happen when they are awake. Others have episodes of apnea — meaning they stop breathing. This is more common when they’re sleeping.

Children may need a sleep study to watch how their breathing changes when they sleep. A sleep specialist may suggest a machine to support their breathing. Examples include bilevel positive airway pressure (BiPAP) or continuous positive airway pressure (CPAP) machines. They help push and pull air in and out of the lungs.

Caregivers also need to keep a close eye on children with Rett syndrome while they eat. They can accidentally choke on food or drink, which raises the risk of lung infections like pneumonia.

6. Nutrition Support for Digestive Problems

Nutrition support is an important aspect of managing Rett syndrome. Muscle weakness makes it hard for children to chew and swallow their food. Their muscles become weaker because they can’t get the energy their body needs.

Gastrointestinal problems are also common with Rett syndrome. Children may have:

• Gastroesophageal reflux disease (GERD), which may cause children to throw up after eating
• Constipation
• Abnormal muscle movements in the bowel
• Problems with their gallbladder, an organ that stores substances needed for digestion

Children with Rett syndrome who can eat by mouth may need a high-calorie diet. Those who don’t eat well may need a G-tube to help them grow and gain weight.

7. Monitoring for Scoliosis and Heart Issues

Rett syndrome is associated with other health conditions, like scoliosis and heart issues. Scoliosis refers to an abnormal sideways curve in the spine. This curve can put extra pressure on the lungs and muscles used to breathe. Children with scoliosis may need to wear braces to keep the spine straight. In severe cases, surgery can help treat large curves.

Children with Rett syndrome are more likely to have abnormal heart rhythms. In some cases, this can be life-threatening. An example of a heart problem seen with Rett syndrome is long QT syndrome. This is an issue with the heart’s electrical system. Children with long QT syndrome may faint or have seizures. Doctors will monitor the heart closely for any signs of trouble.

8. Emotional and Educational Support for Family and Caregivers

Caring for a child with Rett syndrome can take an emotional toll. Depending on their needs, the child will likely have a long list of treatments and therapies that must be managed. Pediatricians can help parents and caregivers connect with the right specialists.

Collaborative care is key to treating children with Rett syndrome. Families usually work with a team of providers to help manage their child’s care, including:

• Pediatricians and primary care providers
• Neurologists
• Genetic counselors
• Physical, occupational, and speech therapists
• Dietitians
• Behavioral health specialists
• Gastroenterologists
• Cardiologists

Learning as much as possible about Rett syndrome can also prepare families and caregivers. Understanding the causes, symptoms, and treatments of the condition sets them up for success with their children. To learn more about Rett syndrome treatments for your child, talk to your pediatrician.

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