Rett Syndrome

Overview

Rett syndrome is a rare genetic neurological and developmental disorder that primarily affects females. It causes a progressive loss of motor skills and language. Typically, babies with Rett syndrome seem to develop as expected for the first six months of life, but then they lose previously acquired skills like crawling, walking, communicating, or using their hands. Over time, children with Rett syndrome experience increasing problems with movement, coordination, and communication. The disorder can also cause seizures and intellectual disabilities. Unusual hand movements, such as repetitive rubbing or clapping, replace purposeful hand use. Although there's no cure for Rett syndrome, potential treatments are being studied. Current treatment focuses on improving movement and communication, treating seizures, and providing care and support for those affected and their families.

Understanding the disease

Symptoms

The symptoms of Rett syndrome include irritability and crying, unusual behaviors such as sudden facial expressions and long bouts of laughter, hand licking, and grasping of hair or clothing, intellectual disabilities, seizures, sideways curvature of the spine (scoliosis), slowed growth, loss of movement and coordination abilities, loss of communication abilities, irregular heartbeat, sleep disturbances, and other symptoms such as decreased response to pain, small hands and feet that are usually cold, problems with chewing and swallowing, problems with bowel function, and teeth grinding. Rett syndrome is commonly divided into four stages: early onset, progressive loss of skills, stabilization, and decline.

Development

Rett syndrome develops as a result of genetic changes (mutations) in the MECP2 gene. These genetic changes occur randomly, with very few cases being inherited. In most cases, males who have the genetic changes die before birth or in early infancy, while a small number of males have a less severe form of the condition. The exact cause of Rett syndrome is still being studied.

Assessment and Diagnosis

Triage

You should see a doctor if you notice any signs or symptoms of Rett syndrome in your child. These may include slowed growth of the head or other parts of the body, decreased coordination or mobility, repetitive hand movements, decreasing eye contact, delayed language development, or a clear loss of previously gained milestones or skills. It is important to consult a healthcare provider as soon as possible to ensure proper diagnosis and treatment.

Diagnosis

To diagnose Rett syndrome, a healthcare provider will carefully observe the child's growth and development and gather information about medical and family history. A diagnosis is typically considered when there is slowing of head growth, loss of skills or developmental milestones. To rule out other conditions with similar symptoms, the healthcare provider may conduct tests for other genetic disorders, autism spectrum disorder, cerebral palsy, hearing or vision problems, metabolic disorders, degenerative disorders, brain disorders caused by trauma or infection, prenatal brain damage, and conduct guidelines for diagnosis of atypical Rett syndrome. Genetic testing (DNA analysis) may be needed to confirm the diagnosis, and this involves examining the DNA for clues about the cause and severity of the disorder.

Management and Treatment

Complications

Rett syndrome can lead to several complications, including:

1. Sleep problems and difficulty eating, resulting in poor nutrition and delayed growth.
2. Bowel and bladder problems, such as constipation, gastroesophageal reflux disease (GERD), bowel or urinary incontinence, and gallbladder disease.
3. Pain associated with gastrointestinal issues or bone fractures.
4. Muscle, bone, and joint problems.
5. Anxiety, problem behavior, and social functioning difficulties.
6. Lifelong need for care and assistance with activities of daily living.
7. A shortened life span due to heart problems and other health complications. It's important to note that the severity of these complications varies from person to person and may change over time.

Treatment

Treating Rett syndrome requires a combination of approaches to address the various symptoms and provide support. Although there is no cure for Rett syndrome, treatments can help improve potential for movement, communication, and social participation. The following treatments and supportive measures can be helpful:

1. Behavioral intervention: Practicing and developing good sleep habits may help with sleep disturbances, and various therapies can assist in improving problem behaviors.
2. Support services: Early intervention programs, school, social, and job-training services can aid in integration into school, work, and social activities. Special adaptations can make participation possible.
3. Regular medical care: Management of symptoms and health problems typically requires a multispecialty team. Regular monitoring of physical changes such as scoliosis, gastrointestinal (GI) issues, and heart problems is necessary.
4. Medications: Although medications cannot cure Rett syndrome, they may help control some signs and symptoms associated with the disorder. Medications can help with seizures, muscle stiffness, breathing problems, sleep issues, GI tract problems, or heart problems.
5. Physical therapy: Physical therapy, along with the use of braces or casts, can help children with scoliosis or require hand or joint support. In some cases, physical therapy can also help maintain movement, create proper sitting positions, and improve walking skills, balance, and flexibility. Assistive devices such as a walker or wheelchair may be helpful. It's important to work closely with a healthcare provider or therapist to determine the best treatment plan for an individual with Rett syndrome, taking into account the specific symptoms, severity, and needs of the person.

Preparing for medical consultation

To prepare for an appointment for a child suspected of having Rett syndrome, you should:

1. Make a list of any unusual behavior or signs you've observed in your child.
2. Bring a family member or friend for support and to help remember information.
3. Gather a list of any medications, vitamins, supplements, or herbs your child takes, including dosages.
4. Write down questions to ask the health care provider, such as the diagnosis process, treatment options, and support available for your child and family. Remember to also write down any symptoms you've noticed, and share any major stresses or life changes with the health care provider. This information can help with the diagnosis and understanding of your child's condition.