Rett syndrome is a rare, severe, and progressive disorder that affects mostly girls. It can impact your child’s ability to speak, walk, eat, or breathe easily.
Parents or doctors usually notice signs of Rett syndrome in the first 2 years of a child’s life. If your child has it, it’s common for them to miss key milestones in development or lose abilities they used to have.
There's no cure for this lifelong disorder, but early treatment may help your child adjust.
What Causes Rett Syndrome?
Most children with Rett syndrome have a mutation on the X chromosome, usually in a gene called MECP2.
Exactly what this gene does, or how its mutation leads to Rett syndrome, isn’t clear. Researchers think that the single gene may influence many other genes involved in development.
Although Rett syndrome is genetic, children almost never inherit the faulty gene from their parents. Rather, it’s a chance mutation that happens in DNA.
How Is Rett Syndrome Different From Autism?
Both conditions can make it hard to communicate and socialize.
But there are key differences:
- Rett syndrome usually happens in girls, while autism spectrum disorder is much more common in boys.
- Some symptoms of Rett syndrome don’t happen with autism spectrum disorder. These include slowed rate of head growth, loss of hand skills, less mobility, and irregular breathing.
- A child with Rett syndrome usually prefers people more than objects and likes when you show them affection. The opposite can be true in a child with autism spectrum disorder.
How Rare Is Rett Syndrome?
About 1 out of every 10,000 to 15,000 girls worldwide is born with Rett syndrome. The disorder is even rarer in boys.
How Is Rett Syndrome Different for Boys?
When boys develop the Rett syndrome mutation, they rarely live past birth. Males have only one X chromosome (instead of the two girls have), so the effects of the genetic mutation are much more serious and almost always fatal.
Most baby boys with Rett syndrome show signs of it very early on, and they have health problems starting when they’re born or soon after. They need aggressive medical treatment, meaning treatment that’s more intense than usual.
What Are the Symptoms of Rett Syndrome?
The age when symptoms appear varies. But most babies with Rett syndrome seem to grow normally for the first 6 months before any signs of the disorder become obvious.
The most common changes usually show up when babies are between 12 and 18 months, and they can be sudden or progress slowly.
Some symptoms of Rett syndrome are:
Slowed growth. The brain doesn’t grow properly, and the head is usually small -- doctors call this microcephaly. This stunted growth becomes clearer as your child gets older.
Problems with hand movements. Most children with Rett syndrome lose the use of their hands. They tend to wring or rub their hands together.
No language skills. Between the ages of 1 to 4, social and language skills start to decline. Children with Rett syndrome stop talking and can have extreme social anxiety. They may stay away from or not be interested in other people, toys, and their surroundings.
Problems with muscles and coordination. This can make walking awkward.
Trouble with breathing. This can include very fast breathing (hyperventilation), forceful exhaling of air or saliva, and swallowing air.
Seizures. Most people with Rett syndrome have seizures at some point in their lives.
It’s also possible to have:
Behavior changes. Children with Rett syndrome tend to become tense and irritable as they get older. At times they may cry or scream for a while or have long fits of laughter.
Some kids with Rett syndrome also make unusual faces, lick their hands, or grasp at hair or clothes.
Unusual eye motion. This can include staring or blinking intensely, crossed eyes, or shutting one eye at a time.
Trouble sleeping. Your child might have a hard time falling asleep at night and nod off during the day. Or they might wake up at night screaming or crying.
Scoliosis. This sideway curve in the spine is common with Rett syndrome. It usually starts when a child is between 8 and 11 years old and gets worse with age. If it becomes severe, your child may need surgery.
Irregular heartbeat. Many children and adults with Rett syndrome have this serious condition, which can be life-threatening without treatment.
It’s possible to have a few other symptoms, like:
- Less of a reaction to pain than usual
- Small hands and feet that often get cold
- Trouble chewing and swallowing
- Grinding teeth
- Bowel problems
Symptoms of Rett syndrome usually don’t improve over time. It’s a lifelong progressive condition. The symptoms often get worse very slowly or don’t change. It’s rare for people with Rett syndrome to be able to live on their own.
What Are the Stages of Rett Syndrome?
In general, there are four stages. But the way the stages unfold and the severity of Rett vary from child to child.
Stage I: Early onset. This stage usually happens when your baby is 6 months to 1 1/2 years old. It lasts for a few months to a year.
The symptoms of the disorder are subtle during this time, which can make them easy for you to overlook. Your baby might make less eye contact with you and seem less interested in toys. They might also take longer than usual to sit up or crawl.
Stage II: Rapid destructive. Some doctors also call this the “rapid deterioration” stage. It usually starts when a child is 1 to 4 years old, and it can last weeks to months.
During this stage, your child could lose skills they used to have. It can happen quickly or gradually.
You might also notice clearer symptoms of Rett syndrome, like slower head growth, unusual hand movements, rapid breathing, trouble moving or coordinating, and losing social and communication skills.
Stage III: Plateau. This stage can start anytime from preschool to adulthood, and it can last for decades.
Your child may continue to have trouble moving, but they may cry and get irritable less often. Their communication skills and hand use might also improve.
They may start to have seizures during this stage. In general, children with Rett syndrome don’t get seizures before they’re 2 years old.
Stage IV: Late motor deterioration. This stage usually starts after your child is 10, and it can last decades.
It’s when your child is able to move on their own less or not at all. They may also have muscle weakness, limited range of motion in their joints, and scoliosis.
But their ability to understand, communicate, and use their hands may improve a bit or stay stable. If they have seizures, they may get them less often, too.
How Do Doctors Diagnose Rett Syndrome?
Doctors can make the diagnosis by observing your child’s pattern of symptoms and behavior. They’ll probably also ask you about things like when the symptoms started.
Because Rett syndrome is rare, doctors will first rule out other conditions, including autism spectrum disorder, cerebral palsy, metabolic disorders, and prenatal brain disorders.
Genetic testing can help confirm the mutation in 80% of girls with suspected Rett syndrome. Doctors also rely on what’s called an RTT Diagnostic Criteria Worksheet. It assesses your child’s early growth and development.
If you have one child with Rett syndrome, your chances of having another child with the disorder are small – even less than a 1% chance, according to the International Rett Syndrome Foundation.
Still, you and your partner can get tested for gene mutations before you decide whether you want to have more kids. You can get more information by talking with an experienced genetic counselor.
If a mother learns that she has an MECP2 mutation (without symptoms, just a positive blood test), any daughters she has who don’t have Rett syndrome can choose to get tested once they become old enough to have kids. It could help them find out if they also have the mutated gene.
A diagnosis of Rett syndrome shouldn’t solely be based on genetic testing because the mutation can be seen in other similar conditions.
What Are the Treatments?
There’s no cure for Rett syndrome, but treatments can help with a child’s symptoms. They should get these treatments for their entire life.
The best options for treating Rett syndrome include:
Standard medical care and medication. Meds may help control symptoms like seizures, stiff muscles, and problems with sleeping, breathing, the heart, or digestive tract.
Physical therapy. PT and using braces or casts can help children who need hand or joint support or have scoliosis. Sometimes, physical therapy can help them keep moving, sit more easily, walk better, and improve their balance and flexibility. Assistive devices like a walker or wheelchair might also help.
Speech therapy. If your child has trouble talking, this could help them learn nonverbal ways to communicate and socialize.
Occupational therapy. This can boost your child’s ability to use their hands to do things like put on clothes and feed themselves. If they have trouble making repetitive movements with their arms and hands, the occupational therapist might recommend splints that limit elbow and wrist motion.
Good nutrition. Work with your child’s doctor to make sure they’re eating a balanced diet, which is important for healthy growth and better mental, physical, and social skills. Also ask the doctor what you need to do prevent your child from choking on food or vomiting while eating. Some children and adults with Rett syndrome benefit from being fed through a tube placed into the belly.
Behavioral therapy. If your child has certain behavior issues, this might help improve them. It could also teach them good sleep habits that help them get a better night’s rest.
Supportive services. You can look into early intervention programs as well as school, social, and job-training services for your child.
What’s the Outlook?
Experts believe that therapy can help children, especially girls, with Rett syndrome and their parents. Some kids may be able to go to school and learn how to socialize better.
Many girls with Rett syndrome can live at least into middle age. Researchers are studying women with the disease, which was only widely recognized in the last 20 years.