What is Rett Syndrome?
Rett syndrome is a rare but serious neurological disorder that mainly affects girls. For the first few months of life, children with Rett syndrome seem to develop just like any other child—smiling, babbling, and meeting their milestones. But then, things start to change. Skills they had—like using their hands, talking, or walking—begin to slip away.
This can be incredibly confusing and heartbreaking for families, but understanding the signs and symptoms can help you get the answers you need. Let’s break it down step by step.
The Signs and Symptoms
Rett syndrome usually shows up in four main stages:
Stage 1: Early Onset (6 to 18 months)
- This stage can be subtle. You might notice:
- Your child isn’t as interested in toys or people.
- Eye contact decreases.
- Motor delays start, like trouble sitting or crawling.
It might seem like a “wait-and-see” phase at first, but it’s important to trust your instincts and talk to your doctor if you feel something isn’t right.
Stage 2: Regression (1 to 4 years)
This is when things become more noticeable. Skills your child once had begin to fade, and new symptoms appear, such as:
- Loss of hand skills – Instead of reaching or grabbing, you’ll see repetitive hand movements like wringing, clapping, or tapping.
- Speech regression – Words and babbling may stop altogether.
- Breathing changes – Periods of breath-holding, hyperventilating, or even sighing.
- Social withdrawal – Your child might seem less engaged with you or the world around them.
This can be an incredibly difficult time for families, but knowing what’s happening allows you to seek support early.
Stage 3: Plateau (2 to 10 years)
Here’s the surprising part—while some challenges remain, this stage often brings a bit of stability. You may notice:
- A slowing down of the regression.
- Fewer behavioral issues and more interest in surroundings.
- Ongoing struggles with motor skills and communication.
- Seizures can become more frequent.
This is often when parents and therapists work hard to build communication tools, mobility aids, and other supports to improve your child’s daily life.
Stage 4: Late Motor Deterioration (10 years and older)
In this stage, mobility can become more limited. You might notice:
- Difficulty walking or complete loss of mobility.
- Stiffness in muscles and joints.
- Scoliosis – a curvature of the spine that needs monitoring.
While the physical challenges can be tough, many children remain socially aware. They’ll respond to voices, smiles, and loving touches—they’re still present and connected to the people who love them.
How is Rett Syndrome Diagnosed?
Getting a diagnosis can feel overwhelming, but it’s a critical step toward getting the right help and support. Doctors look at two key factors:
- Clinical Evaluation:
Doctors observe your child’s developmental history and symptoms—like loss of speech, hand skills, and motor difficulties. - Genetic Testing:
A simple blood test can identify changes (mutations) in the MECP2 gene. This mutation is present in about 95% of children with Rett syndrome.
It’s important to note that Rett syndrome can look similar to other conditions like autism or cerebral palsy. That’s why genetic testing is so valuable—it provides clarity.
Why Early Diagnosis Matters
The earlier Rett syndrome is diagnosed, the sooner families can access the therapies and support they need. Early intervention—like physical therapy, speech therapy, and tailored communication tools—can make a huge difference in quality of life.
If you’re worried about your child’s development, trust your instincts. Reach out to a doctor and ask about Rett syndrome testing. You’re not alone—there’s a whole community here to support you.
You’re Not Alone
Learning about Rett syndrome can be tough, but knowledge is power. The more we understand this condition, the better we can support our children and families. Organizations like Rett SA are here to help, connect you with resources, and ensure you’re never walking this journey alone.
References:
- Mayo Clinic. (n.d.). Rett Syndrome Overview. Retrieved from Mayo Clinic
- National Institute of Neurological Disorders and Stroke. (n.d.). Rett Syndrome Fact Sheet. Retrieved from NINDS
- International Rett Syndrome Foundation. (n.d.). Diagnosis and Stages of Rett Syndrome. Retrieved from IRSF