Answers to questions families often have about caring for their child withn Rett syndrome

Rett syndrome is a rare, non-inherited, genetic neurodevelopmental disorder which starts to be apparent in infancy or early childhood. It is seen mostly in girls, though it can occur rarely in boys. It is found in all racial and ethnic groups throughout the world. It affects 1 in 10,000 females and is the most common cause of intellectual disability in girls.

Most cases of Rett syndrome are caused by a spontaneous mutation (a change in the gene) in the MECP2 gene on the X chromosome. The MECP2 gene makes a protein, also called MECP2, believed to play an important role in turning off other genes. The MECP2 mutation causes the turn-off mechanism to fail, making other genes stop working normally. There are many genetic variations of Rett syndrome. Even if two girls have the same mutation it does not mean they will have all of the same symptoms.

The age when Rett syndrome starts and the severity of symptoms varies. Each case is unique, with its own traits and progression. Children with Rett syndrome are usually born healthy, with an early period of apparently normal or near-normal development until 6-18 months of life, when there is a slowing down or stagnation of skills. This is usually followed by a period of regression when the child loses communication skills and purposeful use of her hands. Children may start to show other symptoms, including:

• Slowed rate of growth for head, feet, and hands
• Involuntary hand movements
• Loss of mobility or and gait (walking/running manner) disturbances
• Breathing issues
• Seizures
• Scoliosis (sideways curvature of the spine)
• Sleep problems
• Loss of muscle tone
• Irritability and inconsolable crying
• Difficulties with feeding, chewing, and swallowing
• Apraxia (a speech disorder usually caused by muscle weakness)

Over time, motor problems may increase, while interaction and communication, especially with eye gaze, seizures, and irregular breathing may improve. Most people with Rett syndrome need assistance with all aspects of daily living.

Symptoms may be different for the variant forms including the male form and are described in the Rett Syndrome.

Rett syndrome is diagnosed based on the signs and symptoms observed in the child. A blood test can be done to check for the MECP2 mutation. This genetic test can confirm the clinical diagnosis, but might sometimes be negative, even in girls who geneticists have diagnosed with Rett syndrome.

Most girls with Rett syndrome live to about their mid-40s, although there is a small percentage who die unexpectedly of unknown causes. In one recent study in China, girls with Rett syndrome had a 100% survival rate at 10 years of age and 87.5% at 25 years of age. [Wong: 2007] Causes of early death include heart rhythm abnormalities, seizures, and pneumonia; however, there does not appear to be any single cause. [Kerr: 1999]

Rettsyndrome.org has recommended ECG screening for heart rhythm abnormalities and EEG screening for seizures. If heart rhythm abnormalities and seizures are present or suspected, they should be discussed with your medical home provider.

The chance of having more than one child with Rett syndrome is very small. If a family has an affected daughter and no other affected relatives, the recurrence risk is much less than 1% for the family and children. This means that more than 99.5% of the time the mutation is spontaneous, happens only with this pregnancy, and is not repeated in a family. If there are concerns, both parents can be tested for mutations before deciding to have other children. Talk with your doctor or a genetic counselor about testing.

In rare cases where families have more than one affected child, the situation is different and would need to be addressed individually by talking with a genetic counselor.

The chances of a child being born with Rett syndrome are not affected by the age of the parents, or by the child’s birth order. Because the mutation is usually spontaneous, parents did not do anything to cause it. The percentage of children born with Rett syndrome is similar among racial and ethnic groups.

There are no treatments for the underlying cause for the disorder, although there are many therapies to help with your child's symptoms. These include therapies to help with development, such as physical, occupational, and language therapy, and medications to treat seizures, if present. Augmentative Communication (AAC) devices or alternative communication can be used to help your child communicate. Other specific problems, such as feeding problems, are addressed individually by your child's doctors

Every child with Rett syndrome is unique and the level of disability seen with the disorder ranges from mild to severe. Your child may need lifelong help with activities of daily living such as eating, dressing, bathing. You may need to lift and carry your child, or help her walk. You and your child may need to learn to use a communication device. Some children may need a feeding tube.

It is of great value to contact a family support group for more information and support for the child and family as the family learns about this diagnosis and how it will impact their child. (see Rettsyndrome.org). There is a lot of support available to help you find the right professionals, schedule appointments and therapies, search for the right schools or programs, and find any special equipment you may need.

Keep in mind that children with Rett syndrome can still communicate and learn. Adaptations can be made to help them learn some independent skills and lead a full life. Children can learn to use augmentative devices to communicate with family and friends and learn new things well into middle age and beyond. They can express a full range of emotions and join in social, educational and recreational activities at home and in the community.

Because Rett syndrome is a rare disorder, it is important to be an advocate for your child. This may involve keeping informed about treatments and therapies, and working with your health insurer to get coverage (see Working with Insurance Companies), or talking with your child’s teacher about her abilities to make sure her needs are met at school.

Episodes of rapid breathing (hyperventilation) are seen in many girls with Rett syndrome but the reason is unknown. Fast or deep breathing releases more carbon dioxide from the body than usual, causing carbon dioxide level in the blood to fall. Carbon dioxide is one of the body’s normal waste products and it manages keep the acid-base balance normal so that cells can function well. Hyperventilation may cause her to feel dizzy and her fingers to tingle but it rarely causes serious problems. For most girls, irregular breathing patterns become less noticeable as they get older.

While parents may be concerned about breath-holding and other irregular breathing, it is usually followed by regular breathing. Experts recommend a low-key approach, taking comfort in the fact that girls become used to the irregular breathing and regular breathing will soon return. While it may seem like forever, it is important to stay calm and in control. Keep an eye on her breathing, watching for any signs of pneumonia, especially aspiration pneumonia, and seek medical attention if this is suspected

Some girls with Rett syndrome will have problems with heart rhythm, which can cause serious problems. By age 5, your child should have an ECG performed. If normal, it should be repeated every other year. If abnormal, a cardiologist who is an expert in heart rhythm abnormalities should be consulted. Most “nonspecific” ECG changes do not need to be treated but a condition called “long QT syndrome” may require treatment with medicine.

Nearly 70-90% of children with Rett syndrome have seizures. Children may start having seizures early, during their first year of life, or as late as puberty. Some children may have multiple seizures every day, while other children may have seizures only rarely. Abnormal electroencephalogram (EEG, or brain wave test) findings are common in children with Rett syndrome, even those who do not have seizures, and regular EEGs may be recommended. Most children with Rett syndrome have a neurologist on their care team who will direct management and use of medications to treat seizures.

Research into medications, gene therapy, and other treatments is ongoing. Researchers are continuing to learn more about Rett syndrome and there are many reasons to be hopeful. Many people with Rett syndrome live into middle age and beyond, and with adaptations can live rewarding lives. Connecting with other families can help parents find joy in the journey.