Developmental Regression in Rett Syndrome: Losing Skills After Early Development

Developmental regression is a common feature of Rett syndrome. This rare genetic condition mostly affects girls, according to the International Rett Syndrome Foundation, but boys can also have it. Children with Rett syndrome usually seem to develop typically at first. After several months, they begin to lose skills they had already learned.

This article explains what developmental regression looks like in Rett syndrome, why it happens, and what treatments and supportive care may help.

Developmental Regression

After a short period of typical development, children with Rett syndrome begin to show signs of developmental regression. During this time, they may lose skills they previously learned. Symptoms vary, and there is no single sign that always appears first.

Early Signs

Early signs of Rett syndrome can appear as early as 6 months of age but more often start around 12 months. Common symptoms include:

• Loss of hand movements
• Loss of speech or language skills
• Repetitive hand movements

In some children, other symptoms appear first, such as:

• Strabismus (crossed eyes)
• Vomiting
• Inconsolable crying
• Poor sleep

Symptoms don’t appear in the same order for every child. As Rett syndrome progresses, more signs usually develop.

Regression

Developmental regression usually begins between 6 and 18 months of age. During this stage, children may miss developmental milestones or lose skills they had already reached. Changes may include:

• Loss of speech and language skills
• Loss of hand function, such as gripping or holding objects
• Repetitive hand movements, such as wringing, squeezing, or clapping
• Social withdrawal
• Decreased eye contact
• Trouble following simple commands
• Muscle weakness or stiffness
• Inconsolable crying
• Trouble with balance or walking
• Difficulty chewing or swallowing

Not every child has all these symptoms.

Over time, the regression stage of Rett syndrome slows, and children usually stop losing skills as quickly. This is called the plateau stage. It usually happens between ages 2 and 10. During this phase, some children may show small improvements, especially with therapy and supportive care.

Other Rett Syndrome Health Concerns

In addition to causing regression, Rett syndrome can affect many parts of the body. Because it affects muscle tone, movement, and posture, orthopedic issues such as joint contractures and scoliosis are common. People with Rett syndrome may also have digestive problems (such as reflux or constipation), slowed growth (including head growth), breathing issues, heart rhythm changes, sleep problems, intellectual disabilities, and seizures.

These health concerns can appear around the same time as developmental regression, but there’s no set order. Timing and severity vary widely from person to person. Different specialists can help manage Rett symptoms, and ongoing care from a team can support treatment over time.

Rett Syndrome Causes, Diagnosis, and Treatment

Rett syndrome is caused by a gene mutation (change) that usually happens randomly and isn’t inherited. The mutation most often affects the MECP2 gene, which is located on the X chromosome, helping explain why Rett syndrome mainly affects girls.

Genes provide instructions for making proteins. The MECP2 protein plays an important role in helping brain cells communicate. When this protein doesn’t work the way it should, it can affect brain signals and cause children to lose skills they had learned before.

How Is Rett Syndrome Diagnosed?

Diagnosis for Rett syndrome is initially based on signs and symptoms. A pediatrician or primary care doctor may recognize early concerns or refer the child to a specialist. Sometimes children are evaluated after parents notice missed milestones or loss of skills.

Diagnosis can be delayed because Rett syndrome shares features with other developmental conditions, such as autism, epilepsy, Angelman syndrome, and cerebral palsy. A genetic blood test can confirm the diagnosis by identifying a mutation in the MECP2 gene. Once Rett syndrome is diagnosed, the care team can discuss treatment and supportive care options.

What Are the Treatment Options?

There’s no cure for Rett syndrome, but treatments and ongoing research aim to improve care. Rett syndrome is not degenerative, and with proper care, many people live into adulthood.

Treatment focuses on managing symptoms. Medications may help control seizures and muscle problems. Different specialists may manage symptoms such as heart rhythm changes, sleeping trouble, gastrointestinal problems, and breathing issues.

Supportive care may also be offered by other healthcare providers, including:

• Physical therapists (PTs) — PTs help improve mobility through stretching, positioning, and strengthening exercises. They may also recommend adaptive equipment such as wheelchairs, braces, and walkers.
• Occupational therapists (OTs) — OTs help with daily activities such as feeding, fine motor skills, and upper body movement and strength.
• Speech language pathologists (SLPs) — SLPs may use augmentative and alternative communication (AAC), which includes tools that help people communicate without speech. They can also help with swallowing strategies.
• Registered dietitians (RDs) — RDs develop nutrition plans to support growth and recommend feeding strategies.

Treatments and supportive care aim to maintain function and quality of life. Care plans are individualized based on symptoms and how severe they are. Needs may also change throughout the different stages of Rett syndrome.

It takes a team effort to manage Rett syndrome. Social workers and case managers can be great resources. They can help you coordinate care and appointments. If you have specific questions or concerns about Rett syndrome, be sure to talk to your medical team.

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What developmental changes have you noticed in your loved one with Rett syndrome? Let others know in the comments below.