Rett Syndrome

1 What is Rett Syndrome?

A rare genetic neurological and development disorder, that almost exclusively occurs in girls, that affects brain development is called Rett syndrome.

This disorder causes a progressive inability to use muscles for eye and body movements including speech. Symptoms of Rett syndrome does not right away manifest after birth as most babies with this condition appear to be developing normally at first but after about 6 months of age, they lose skills they previously had which includes the ability to communicate or use their hands, crawl and walk.

With increasing age, children with Rett syndrome manifest increasing problems associated with the use of muscles for communication, movement and coordination.

Symptoms of Rett syndrome may soon progress to intellectual disability and episodes of seizures. At this time, studies are still being conducted to develop a specific treatment to Rett syndrome which is still unavailable.

Hence, current remedies are focused on strengthening muscles for improved movement and communication as well as providing care and support for children and adults with Rett syndrome including their families who plays a big role in dealing and coping with this disorder.

2 Symptoms

Signs and symptoms of Rett syndrome varies widely in individuals as babies generally appear to behave and grow normally from birth to about six months.

Regular well baby check-ups are necessary to see if there changes in your baby that the doctor and you would need to be concerned about.

If you notice physical problems or changes in behavior after apparently normal development then it is best to right away see a doctor since Rett syndrome appears normal at birth and signs and symptoms may appear subtle in the early stages.

It is wise to know the normal development of a child so that can observe if your child is within the normal growth or if there delineation which can be a cause of concern, here are some of the basic developmental problems to watch out for:

  • slowed growth of your child's head or other parts of the body.
  • decreased coordination or mobility.
  • repetitive hand movements.
  • decreasing eye contact or loss of interest in normal play.
  • delayed speech development or loss of previously acquired speech abilities.
  • behavioral problem or marked mood swings and any clear loss of previously gained milestones in gross motor or fine motor skills.

Rett syndrome are typically divided into four stages with varying degrees of symptoms:

  • Stage 1 is the early onset: Signs and symptoms are subtle and easily overlooked during the first stage, which starts between 6 and 18 months of age and can last for a few months or a year. Babies in this stage may show less eye contact and start to lose interest in toys. They may also have delays in sitting or crawling.
  • Stage II is the rapid destruction: Starting between 1 and 4 years of age, children lose the ability to perform skills they previously had. This loss can be rapid or more gradual, occurring over weeks or months. Symptoms of Rett syndrome occur, such as slowed head growth, abnormal hand movements, hyperventilating, screaming or crying for no apparent reason, problems with movement and coordination, and a loss of social interaction and communication.
  • Stage III is the Plateau: This stage usually begins between the ages of 2 and 10 years and can last for many years. Although problems with movement continue, behavior may have limited improvement, with less crying and irritability, and some improvement in hand use and communication. Seizures may begin in this stage and generally don't occur before the age of 2.
  • Stage IV is the Late motor deterioration: This stage usually begins after the age of 10 and can last for years or decades. It's marked by reduced mobility, muscle weakness, joint contractures and scoliosis. Understanding, communication and hand skills generally remain stable or improve slightly, and seizures may occur less often. The most noticeable changes generally occur at 12 to 18 months of age, suddenly, or over a period of weeks or months.

Here are the signs and symptoms of Rett syndrome that you need to be aware of:

  • Slowed growth, brain growth slows after birth. Smaller than normal head size (microcephaly) is usually the first sign that a child has Rett syndrome. As children get older, delayed growth in other parts of the body becomes evident.
  • Unusual eye movements. Children with Rett syndrome tend to have unusual eye movements, such as intense staring, blinking, crossed eyes or closing one eye at a time.
  • Loss of communication abilities. Children with Rett syndrome typically begin to lose the ability to speak, to make eye contact and to communicate in other ways. They may become disinterested in other people, toys and their surroundings. Some children have rapid changes, such as a sudden loss of speech. Over time, most children gradually regain eye contact and develop nonverbal communication skills.
  • Loss of normal movement and coordination. The first signs often include reduced hand control and a decreasing ability to crawl or walk normally. At first, this loss of abilities occurs rapidly and then it continues more gradually. Eventually muscles become weak or may become rigid or spastic with abnormal movement and positioning.
  • Abnormal hand movements. Children with Rett syndrome typically develop repetitive, purposeless hand movements that may differ for each person. Hand movements may include hand wringing, squeezing, clapping, tapping or rubbing.
  • Cognitive disabilities. Loss of skills can be accompanied by a loss of intellectual functioning.
  • Breathing problems. These include breath-holding, abnormally rapid breathing (hyperventilation), forceful exhalation of air or saliva, and swallowing air. These problems tend to occur during waking hours, but not during sleep.
  • Pain. Because of health problems, people with Rett syndrome may have an increased risk of pain. But communication problems may prevent others from recognizing these pain issues. In one small study, one-fourth of the parents estimated that their daughters have more than a week of pain each month. Agitation and irritability. Children with Rett syndrome become increasingly agitated and irritable as they get older. Periods of crying or screaming may begin suddenly, for no apparent reason, and last for hours.
  • Other abnormal behaviors. These may include, for example, sudden, odd facial expressions and long bouts of laughter, hand licking, and grasping of hair or clothing.
  • Seizures. Most people who have Rett syndrome experience seizures at some time during their lives.
  • Abnormal curvature of the spine (scoliosis). Scoliosis is common with Rett syndrome. It typically begins between 8 and 11 years of age and increases with age. Surgery may be required if the curvature is severe. Irregular heartbeat. This is a life-threatening problem for many children and adults with Rett syndrome and can result in sudden death.
  • Other symptoms. A variety of other symptoms can occur, such as thin, fragile bones prone to fractures, small hands and feet that are usually cold, problems with chewing and swallowing, and teeth grinding. Symptoms can vary greatly from child to child.

3 Causes

The exact cause of Rett syndrome is still not fully known and understood as currently studies are being conducted to further understand the condition.

Rett syndrome is most common in boys because males have a different chromosome combination from females, boys who have the genetic mutation that causes Rett syndrome are affected in devastating ways as most of them die before birth or in early infancy.

There are cases of boys with a different mutation of Rett syndrome that has less destructive form which is non-fatal. Similar to girls with Rett syndrome, these boys will likely live to adulthood, but they're still at risk of a number of intellectual and developmental problems.

Rett syndrome is a rare genetic disorder that has five known variations (atypical or variant) with milder or more severe symptoms, based on the specific genetic mutation.

The genetic mutation that causes the disease occurs randomly, usually on the MECP2 gene. Only in a few cases is this genetic disorder inherited. The mutation appears to result in problems with the protein production critical for brain development.

4 Making a Diagnosis

If your child shows any symptoms of Rett syndrome, she or he will likely be referred to a pediatric neurologist or developmental pediatrician for testing and diagnosis.

During well baby check-ups your child’s pediatrician will be looking for development problems hence it is important to always bring your check to see the doctor as scheduled.

Here are some important tips to consider and help you prepare for your doctor’s appointment to maximize the time and cover important grounds related to Rett syndrome. It would be helpful to bring a family member or a trusted friend to offer additional support. A companion will be able to help you discuss symptoms your child is experiencing that you might have forgotten or missed. Also, pertinent information about the condition as discussed by the doctor can be retained by your companion.

Write down any unusual behavior and other signs. Any medications that your child takes. Include any vitamins, herbs and over-the-counter medicines or supplements, and their doses.

The doctor will examine your child carefully and watch for slowed growth and development, but your daily observations are very important. For Rett syndrome, questions to ask might include:

  • Why do you think my child does (or doesn't) have Rett syndrome?
  • Is there a way to confirm the diagnosis?
  • What are other possible causes of my child's symptoms?
  • If my child does have Rett syndrome, is there a way to tell how severe it is?
  • What changes can I expect to see in my child over time?
  • Can I take care of my child at home or will I need to look for outside care or additional in-home support?
  • What kind of special therapies do children with Rett syndrome need?
  • How much and what kinds of regular medical care will my child need?
  • What kind of support is available to families of children with Rett syndrome?
  • How can I learn more about this disorder?
  • What are my chances of having other children with Rett syndrome?

Do not hesitate to ask questions when you do not understand something. As part of the doctor’s evaluation, questions will also be asked such as:

  • When did you first notice your child's unusual behavior or other signs that something may be wrong?
  • What could your child do before that she or he can no longer do? How severe are your child's signs and symptoms?
  • Are they getting progressively worse?
  • What, if anything, seems to improve your child's symptoms?
  • What, if anything, appears to worsen your child's symptoms?

For a diagnosis of Rett syndrome, other conditions with similar symptoms must be ruled out. Diagnosing Rett syndrome involves careful observation of your child's growth and development and answering questions about medical and family history.

The diagnosis is usually considered when slowing of head growth is noticed. Rett syndrome is rare, your child may have certain tests to identify if other conditions are causing some of the same symptoms as Rett syndrome.

Some of these conditions include: Other genetic disorders such as Autism, Cerebral palsy, hearing or vision problems, metabolic disorders such as phenylketonuria (PKU) Disorders that cause the brain or body to break down (degenerative disorders), brain disorders caused by trauma or infection and brain damage before birth (prenatal).

The tests the child would need to undergo will depend on the specific signs and symptoms presented. Tests may include:

  • Blood tests
  • Urine tests
  • Imaging tests such as magnetic resonance imaging (MRI) or computerized tomography (CT) scans
  • Hearing tests
  • Eye and vision exams and Brain activity tests (electroencephalograms, also called EEGs)

Rett syndrome has a criteria for diagnosis and it includes core symptoms:

Partial or complete loss of purposeful hand skills. Partial or complete loss of spoken language, walking abnormalities, such as problems walking or not being able to walk, repetitive purposeless hand movements, such as hand wringing, squeezing, clapping or tapping, putting hands in the mouth, or washing and rubbing movements.

Additional typical symptoms can support the diagnosis. Diagnostic criteria for atypical or variant Rett syndromes may vary slightly, but the symptoms are the same, with varying degrees of severity. A genetic testing (DNA Analysis) will also be done to confirm the diagnosis of Rett syndrome.

The test requires drawing a small amount of blood from a vein in the arm. The blood is then sent to a lab, where technicians examine your child's DNA for abnormalities and clues as to the cause and severity of the disorder.

5 Treatment

Rett syndrome currently does not have an available treatment. The efforts are focused on treating the presented symptoms and providing the necessary support as it is needed throughout the child’s life:

  • Management of symptoms and health problems may require a multispecialty team since regular monitoring of physical changes such as scoliosis and GI and heart problems is needed.
  • Proper nutrition is extremely important for normal growth and for improved mental and social abilities. A high-calorie, well-balanced diet may be recommended. Feeding strategies to prevent choking or vomiting are important. Some children and adults may need to be fed through a tube placed directly into the stomach (gastrostomy).
  • Physical therapy and the use of braces or casts can help children who have scoliosis or require hand or joint support. In some cases, physical therapy can also help maintain movement, create a proper sitting position, and improve walking skills, balance and flexibility.
  • Assistive devices may be helpful, if repetitive arm and hand movements are a problem, splints that restrict elbow or wrist motion may be helpful.
  • Though medications can't cure Rett syndrome, they may help control some signs and symptoms associated with the disorder, such as seizures, muscle stiffness, or problems with breathing, sleep, the GI tract or the heart.
  • Occupational therapy may improve purposeful use of the hands for activities such as dressing and feeding.
  • Speech-language therapy can help improve a child's life by teaching nonverbal ways of communicating and helping with social interaction.
  • Behavioral intervention. Practicing and developing good sleep habits may be helpful for sleep disturbances.
  • Support services. Academic, social and job training services may help with integration into school, work and social activities. Special adaptations may make participation possible.

Treating Rett syndrome requires a team approach as most symptoms are debilitating and might last a life-time, hence work closely with your health care providers to gain necessary support and assistance in helping the child deal with the condition.

6 Prevention

Since in most cases, the genetic mutation that causes the disorder occurs spontaneously although there is no known way to prevent Rett syndrome at this time.

If you have a child or other family member with Rett syndrome, it is best to ask your doctor to have your child undergo genetic testing.

7 Alternative and Homeopathic Remedies

Consult with your doctor before starting any alternative and homeopathic remedies for Rett syndrome.

Some of the complementary therapies for children with Rett syndrome are:

  • Music therapy
  • Hydrotherapy that involves moving in the water or swimming
  • Animal-assisted therapy such as therapeutic horseback riding and therapy dogs

Some parents said that these are effective though there’s no enough evidence.

8 Lifestyle and Coping

Lifestyle modifications are necessary in order to cope with Rett syndrome.

Constant care can be exhausting and stressful for families since children with Rett syndrome need help with most daily tasks, such as eating, walking and using the bathroom.

To better cope with the challenge:

  • Find ways to relieve stress. Talk about your problems with a trusted friend or family member to help relieve your stress as it's natural to feel overwhelmed at times.
  • Arrange for outside help. If you care for your child at home, seek the help of outside caregivers who can give you a break from time to time. Or you may consider residential care at some point, especially when your child becomes an adult. Take some time for yourself doing something you like to recharge your battery.
  • Connect with others. Getting to know other families facing problems similar to yours can help you feel less alone. Look for online support and information from organizations such as the International Rett Syndrome Foundation.
  • Such support group may prove beneficial for you and for your child as they may offer additional advice as they also go through the same things that you and your child are going through.

9 Risks and Complications

There are several risks and complications associated with Rett syndrome.

The genetic mutations known to cause the disease are random, and no risk factors have been identified since Rett syndrome is rare.

In a few cases, inherited factors, such as having close family members with Rett syndrome, can be a predisposition to developing Rett syndrome.

Complications of Rett syndrome increase as it progress and would be needing lifelong care and assistance with activities of daily living, such complications include:

Sleep problems, including unusual sleep patterns such as falling asleep during the day or waking up at night

difficulty eating, leading to poor nutrition and delayed growth Constipation, which can be a severe, ongoing problem, as well as other gastrointestinal (GI) problems, such as gastroesophageal reflux disease (GERD), muscle and joint problems, anxiety and behavioral problem that may compromise social functioning. People Rett syndrome has shortened lifespan because of heart problems and other health complications.

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