Treatments for Rett Syndrome

Treatments for Rett Syndrome

Stages of Rett Syndrome

Rett syndrome is usually classified into four phases:

Phase 1: Early Beginning. Signs and symptoms are not obvious and often missed in the initial stage, which begins around 6 to 18 months old. Stage 1 could last several months or even up to a year. Children in this stage could exhibit less eye contact and may begin losing interest in toys. They could also experience slowness in sitting or crawling.
Phase 2: Accelerated Decline. Starting between 1 and 4 years old children are unable to use the skills they once were able to perform. This decline can be sudden or gradual and can happen over months or weeks. The signs of Rett syndrome can manifest with a slowing of head growth, unusual hand movements, excessive hyperventilation, crying or screaming without apparent reason, difficulties with coordination and movement, and a decline in interpersonal interaction as well as communication.
3. Plateau. The third stage generally starts between 2 and 10 years old and can be long-lasting. While issues with movement persist the behavior can improve including less crying or irritation and some improvements in hand use and communication. Seizures can begin at this stage and usually don’t develop until the age of 2 years old.
Stage 4: Deterioration of the Motor skills. This stage usually occurs after age 10 and may be present for decades or years. It’s characterized by a decrease in mobility and joint contractures, muscle weakness, and scoliosis. Hand abilities are generally steady or increase slightly while seizures might occur less often.

When to Visit a Doctor

The signs or symptoms of Rett syndrome may be subtle in the beginning stages. Contact your child’s healthcare doctor immediately whenever you observe physical issues or behavioral changes after what seems to be normal development. The causes of these changes could be:

The growth rate of your child’s skull or other body parts.
Increased coordination or mobility.
Repetitive hand movements.
Loss of eye contact or the loss of interest in normal playing.
Delay in language development or loss of ability to speak.
The loss of achieved milestones or knowledge.

Reasons

Rett Syndrome is an uncommon genetic disorder that is extremely rare. The classic Rett Syndrome and a variety of variations (atypical Rett syndrome) with more severe or milder symptoms are caused by various genetic changes (mutations).

The genetic modifications that lead to Rett Syndrome can occur at random generally within the MECP2 gene. A small percentage of people with this condition are caused by inheritance. Genetic changes are believed to cause problems in the production of proteins, essential for the development of the brain. The exact reason isn’t completely known and is being investigated.

Risk Factors

Rett Syndrome is extremely rare. The genetic mutations that cause the condition are not random and no known risk factors have been discovered. In a small percentage of cases, genetic causes like having relatives who suffer from Rett syndrome could have a part to play.

Complications

The complications of Rett syndrome are:

Sleep disorders that cause severe disrupted sleep to those suffering from Rett Syndrome as well as family members.
Problems eating that cause inadequate nutrition and slow growth.
Problems with the bladder and bowel include constipation, gastroesophageal reflux disease (GERD) as well as bowel or gallbladder disorders.
The pain can be a result of problems like gastrointestinal problems as well as bone fractures.
Joint, bone, and muscle issues.
Anxiety and problematic behavior can hinder social interaction.
The elderly require care and support with daily activities.
Life spans are shorter. While the majority of people with Rett Syndrome can live until adulthood, they might not be as long as normal people due to heart issues as well as other health problems.

Prevention

There’s no method to avoid Rett Syndrome. In the majority of cases, genetic mutations that trigger the disorder are triggered. But should your child be affected or a family member suffering from Rett Syndrome, then you might consider asking your physician regarding genetic testing and counseling.

Diagnosis

The process of diagnosing Rett Syndrome is a careful examination of your child’s development and answering questions regarding medical history and family background. It is typically diagnosed when a slowing in head growth is observed or when a decline in skills or developmental milestones is observed.

To be able to determine if you have Rett Syndrome, any other condition that has similar symptoms should be excluded.

Examining Other Possible Causes of the Symptoms

Since Rett syndrome is a rare condition the child could undergo certain tests to determine if other illnesses are causing similar symptoms similar to Rett syndrome. These conditions could include:

Other genetic diseases
Autism spectrum disorder
Cerebral palsy
Problems with vision or hearing
Metabolic diseases, for example, phenylketonuria (PKU)
Conditions that result in the body or brain to degrade (degenerative disorders)
Trauma-related brain disorders that result from injury or infections
Brain damage before birth (prenatal)

What tests your child should undergo is dependent on the particular symptoms and signs. Tests could include:

Blood tests
Urine tests
Imaging tests like the magnetic resonance imaging (MRI) or computerized tomography (CT) scans
Tests for hearing
Eye and vision tests
Brain activity tests (electroencephalograms, also called EEGs)

Other Symptoms

The diagnosis of classic Rett Syndrome is based on these fundamental symptoms, which can begin at any time between 6 – 18 months old:

Complete or partial loss of hand-eye coordination
Complete or partial disappearance of spoken languages
Trouble walking, or simply not being able to walk
Repeated, unintentional hand movements like hand-wringing, squeezing or tapping hand-sucking into the mouth, or washing and rubbing motions

Additional symptoms that usually occur when you suffer from Rett Syndrome may confirm the diagnosis.

Guidelines for diagnosing Atypical Rett syndrome could differ in a small amount, however the symptoms are similar and vary in severity.

Genetic Testing

If your child’s healthcare doctor suspects Rett Syndrome, after evaluating the case genetic testing (DNA analysis) might be necessary for confirmation of the diagnosis. The test involves drawing tiny amounts of blood from a vein inside the arm of your child. The blood is later sent to a lab which will analyze the DNA to find clues regarding the nature and the severity of the condition. Tests for changes in MEPC2 genes will confirm that the condition is present. Genetic counseling can help you understand the causes of gene changes and their consequences.

Treatment

While there isn’t a solution to treat Rett syndrome, treatments can help manage the symptoms and offer support. These can increase the possibilities for communication, movement, and social involvement. The need for treatment and care isn’t just limited to older children. It’s essential throughout their entire life. The treatment of Rett Syndrome requires an approach that is team-based.

Treatments that can aid adults and children with Rett Syndrome consist of:

Regular medical treatment. Management of symptoms and health issues might require a multispecialty team. Monitoring of changes in physical health like scoliosis, digestive (GI) problems, and heart conditions is essential.
Medications. Although medications aren’t able to be used to cure Rett syndrome completely, they could assist in reducing certain symptoms and signs that are a part of the condition. Medications can help treat muscle stiffness, seizures, or breathing problems, and sleep.
Physical therapy. Physical therapy and the use of casts or braces can aid children with scoliosis, or who require support for joints or hands. In some instances, physical therapy can aid in maintaining movement, establishing an appropriate sitting posture as well as improving walking abilities such as balance and flexibility. Assistive devices like a wheelchair or walker could prove beneficial.
Occupational therapy. Occupational therapy may help improve the use of hands for tasks like dressing and eating. If repetitive hand and arm motions are a problem splints to limit wrist or elbow motion could be beneficial.
Speech therapy. Speech-language therapy can assist in improving the quality of life for children by teaching non-verbal methods to communicate and aiding in social interactions.
Nutrition support. Proper nutrition is vital for healthy growth as well as better physical, mental, and social skills. A well-balanced, high-calorie diet could be suggested. Methods to feed your children that prevent them from vomiting or choking are essential. Certain children and adults may require feeding via tubes that are placed inside the stomach (gastrostomy).
Behavior intervention. Practicing and developing good sleeping habits could aid in reducing sleep disturbances. Therapies could help in improving problematic behavior.
Help services. Early intervention programs and social, school, and job-training programs can assist in the integration of students into work, school, or social life. Certain adaptations can allow participation.

Alternative Medicine

Some examples of alternative therapies that have been attempted for children who suffer from Rett syndrome are:

Therapy through music
Massage therapy
The term “hydrotherapy” refers to swimming or moving around in the water
Therapy with animals, for example, therapeutic horseback riding
Recreational and adaptive sports

While there’s not much evidence that suggests these methods work, they do provide opportunities for more activity and social enrichment.

If you think that alternative therapies or complementary ones could benefit your child, speak to your doctor or therapist. Discuss the potential benefits and potential risks, and discuss how this approach could fit into the overall medical treatment plan.

Help and Assistance

Adults and children who suffer from Rett Syndrome require assistance in the majority of daily activities including eating, walking, and going to the toilet. All of this constant care and interrupted sleep can be stressful and exhausting for families and could affect the well-being of the family members.

To better face the problems:

Explore ways that you could reduce anxiety. It’s natural to be overwhelmed at times. Discuss your issues with your trusted family member to ease your anxiety. Spend some time with yourself and engage in activities that you love so you can unwind.
Find outside help. If you care for your child at home, try the assistance of caregivers outside who can provide you with some respite from time to time. You may also think about the possibility of a residential facility in the future, particularly as your child grows into an adult.
Connect with other people. Getting to know other families with similar issues to yours will help you feel less isolated. Search for online support and resources from organizations like the International Rett Syndrome Foundation.

Making preparations for your appointment

The doctor who treats your child will be looking for signs of developmental issues during regular checkups. If your child exhibits indications or symptoms that suggest Rett Syndrome, they could be recommended to a pediatric neurologist or developmental pediatrician to be tested and diagnosed.

Here are a few tips to help you prepare for the appointment for your child. If you can, bring an adult from your family or an acquaintance with you. A trusted person will help you keep track of details and offer emotional help.

What Can You Do?

Before you go to your appointment, create the following list:

Unusual behavior or signs. Your healthcare doctor will look over your child closely and examine for signs of slow growth, but your daily observations are crucial.
All medications your child is taking. Include any vitamin supplements, herbal supplements, or prescription medicines, as well as the dosages.
Questions you can ask your child’s doctor. Be sure to ask questions if you are unsure about some aspect of the procedure.

The types of questions to ask include:

What makes you think that my child might (or does not) be born with Rett syndrome?
Can you verify the diagnosis?
What other causes could be the cause of my kid’s sickness?
If my child is diagnosed with Rett Syndrome is there any way to know the severity of it?
What kind of changes can I anticipate to see in my child’s development over time?
Can I care for my child at home or do I have to seek out outside help or other in-home assistance?
What type of therapy do children with Rett Syndrome require?
What amount and what kind of medical treatments will my child require?
What type of assistance is offered to families of children suffering from Rett syndrome?
What can I learn about this condition?

What to Expect From The Doctor

Your doctor may ask you questions like:

What was the first time you noticed your child’s peculiar behavior or other indicators that something was wrong?
What are the severity of your child’s symptoms and signs? Are they becoming more and more serious?
How have you tried to help your child’s health issues?
What is it that appears to aggravate the symptoms of your child?

Your health professional will ask further questions based on your responses to your child’s symptoms and requirements. Planning and anticipating your questions will aid you in making use of every minute of the appointment.