Rett syndrome

Description

Rett syndrome is a rare genetic neurological and developmental disorder that affects the way the brain develops. This disorder causes a progressive loss of motor skills and language. Rett syndrome mainly affects women.

Most babies with Rett syndrome seem to develop as expected for the first six months of life. These babies and then lose skills they previously had — such as the ability to crawl, walk, communicate or use their hands.

Over time, children with Rett syndrome have increasing problems with the use of the muscles that control movement, coordination and communication. Rett syndrome can also cause seizures and intellectual disability. Unusual hand movements, such as repetitive rubbing or clapping, replace purposeful hand use.

Although there is no cure for Rett syndrome, the possible treatments that are being studied. The current treatment is focused on improving the movement and communication, treatment of seizures, and the provision of care and support for children and adults with Rett syndrome and their families.

Symptoms

Babies with Rett syndrome are usually born after an uncomplicated pregnancy and delivery. Most babies with Rett syndrome seem to grow and behave as expected for the first six months. After that, the signs and symptoms begin to appear.

The most pronounced changes usually occurs between 12 and 18 months of age, over a period of weeks or months. The symptoms and their severity vary greatly from one child to another.

The main signs and symptoms include:

  • The slow growth. The growth of the brain slows down after the birth. Smaller than normal head size (microcephaly) is sometimes the first sign that a child has Rett syndrome. As the children grow, there is a delay in the growth in other parts of the body.
  • The loss of movement and coordination of capabilities. The first symptoms often include reduction of the hand control and a decrease in the ability to crawl or walk. In the first place, this loss of capacity occurs quickly, and then continues more gradually. Finally, the muscles are weakened or stiff, with unusual movement and positioning.
  • The loss of the ability of communication. Children with Rett syndrome typically begin to lose the ability to speak, make eye contact, and other means of communication. You can become disinterested in other people, the toys and their surroundings. Some children have rapid changes, such as a sudden loss of the tongue. Over time, children can gradually regain contact with the eyes and to develop the skills of non-verbal communication.
  • Unusual movements of the hand. Children with Rett syndrome usually develop repetitive involuntary movements of the hand, which vary from child to child. The movements of the hands may include shaking hands, squeezing, clapping, tapping, or rubbing.

Other signs and symptoms may include:

  • Unusual movements of the eyes. Children with Rett syndrome tend to have unusual movements of the eyes, such as the intense staring, blinking, crossed eyes or close one eye at a time.
  • Breathing problems. These include the holding of the breath, rapid breathing (hyperventilation), with a blowing force of air or saliva, and swallowing air. These problems tend to occur during waking hours. Other breathing disturbances, such as shallow breathing or short periods of cessation of breathing (apnea) may occur during sleep.
  • Irritability and crying. Children with Rett syndrome may become increasingly agitated and irritable as they grow older. The periods of crying or screaming may begin suddenly, without apparent reason, and last for hours. Some children may experience fear and anxiety.
  • Other unusual behaviors. These may include, for example, sudden, strange facial expressions, and long bouts of laughter, hand licking, and grabbing the hair or the clothes.
  • Intellectual disability. The loss of skills may be connected to lose the ability to think, understand and learn.
  • Seizures. Most of the people who have Rett syndrome experience seizures at some time during their lives. Multiple types of seizures may occur and are associated with changes in the electroencephalogram (EEG).
  • Lateral curvature of the spine (scoliosis). Scoliosis is common with Rett syndrome. It usually begins between 8 and 11 years of age and progresses with age. Surgery may be needed if the curvature is severe.
  • Irregular beating of the heart. This is a problem that threatens the lives of many children and adults with Rett syndrome and can result in sudden death.
  • Sleep disorders. Problems with sleep patterns may include irregular sleep times, falling asleep during the day and being awake at night or waking up during the night with crying or screaming.
  • Other symptoms. A variety of other symptoms may occur, such as a decreased response to pain; small hands and feet, which are usually cold; problems with chewing and swallowing, problems with bowel function; and gnashing of teeth.

Stages of Rett syndrome

Rett syndrome is commonly divided into four stages:

  • Stage 1: start Early. The signs and symptoms are subtle and easily overlooked during the first stage, which starts between 6 and 18 months of age. Stage 1 may last for a couple of months or a year. Babies at this stage can have less contact with the eyes and begins to lose interest in toys. They may also have delays in sitting or crawling.
  • Stage 2: Rapid deterioration. From between 1 and 4 years of age, children lose the ability to perform the skills that I had previously. This loss may be rapid or more gradual, occurring over weeks or months. The symptoms of Rett syndrome occur, such as slower growth of the head, anomalies of the hand movements, hyperventilation, scream or cry for no apparent reason, problems with movement and coordination, and loss of social interaction and communication.
  • Stage 3: Plateau. The third stage usually begins between the ages of 2 and 10 years, and can last for many years. Despite the problems with the movement to continue, the behavior may improve a bit, with less crying and irritability, and may be some improvement in the use of the hand and the communication. Seizures can begin at this stage and, in general, do not occur before the age of 2 years.
  • Stage 4: Late motor deterioration. This stage usually begins after the age of 10 years and can last for years or decades. It is characterized by the reduction of the mobility, muscle weakness, joint contractures, and scoliosis. Understanding, communication and hand skills generally remain stable or improve slightly, and seizures may occur with less frequency.

When to see a doctor

The signs and symptoms of Rett syndrome can be subtle in the early stages. See your health-care provider immediately if you begin to notice physical problems or changes in behavior after what seems to be typical of development. Problems or changes may include:

  • The slow growth of your child's head or other parts of the body
  • Decreased coordination or mobility
  • Repetitive movements with the hands
  • To decrease contact with the eyes or the loss of interest in usual game
  • Language delays or loss of the previous language skills
  • Any evident loss of previously earned achievements or skills

Causes

Rett syndrome is a rare genetic disorder. Classic Rett syndrome, as well as several variants (atypical Rett syndrome) with milder or more severe symptoms, occur on the basis of several genetic changes (mutations).

The genetic changes that cause Rett syndrome occur randomly, usually in the MECP2 gene. Very few cases of this genetic disorder is inherited. The genetic changes appear to be the result of problems with the production of the protein critical to the development of the brain. However, the exact cause is not fully understood and is being studied.

Rett syndrome in men

Because men have different chromosome combination of the females, the males that have the genetic changes that cause Rett syndrome are affected in the devastating. Most of them die before birth or in early childhood.

A very small number of men have a different genetic change that results in a less destructive form of Rett syndrome. Similar to that of women with Rett syndrome, these men are likely to live to adulthood, but they are still at risk of a number of intellectual and developmental problems.

Risk factors

Rett syndrome is rare. The genetic changes known to cause the disease are random, and no risk factors have been identified. In a very small number of cases, hereditary factors — for example, near members of the family with the Rett syndrome — may play a role.

Complications

The complications of Rett syndrome are:

  • The sleep problems that cause significant alterations of sleep the person with Rett syndrome and the members of the family.
  • Difficulty eating, leads to malnutrition and growth retardation.
  • Bowel and bladder problems, such as constipation, gastroesophageal reflux disease (GERD), bowel or urinary incontinence, and gallbladder disease.
  • The pain that can accompany problems such as gastrointestinal problems or fractures of bones.
  • Muscle, bone and joint problems.
  • Anxiety and behavior problems that can impede social functioning.
  • The permanent need of care and assistance with activities of daily living.
  • Shortened life span. Although most people with Rett syndrome live into adulthood, they may not live as long as the average person because of heart problems and other health complications.

Prevention

There is No known way to prevent the syndrome. In most cases, the genetic changes that cause the disorder occur spontaneously. Even so, if you have a child or other member of the family with Rett syndrome, you may ask your health care provider about genetic testing and genetic counseling.

Rett syndrome

Diagnosis

The diagnosis of Rett syndrome involves a careful observation of your child's growth and development and respond to questions about the medical and family history. The diagnosis is usually considered when the slowdown in the growth of the head is noticed or loss of skills or milestones of the development occurs.

For the diagnosis of Rett syndrome, other conditions with similar symptoms must be ruled out.

Evaluate other causes of the symptoms

Because the syndrome is rare, your child may have certain tests to determine if other conditions are causing some of the same symptoms of Rett syndrome. Some of these conditions include:

  • Other genetic disorders
  • Autism spectrum disorder
  • Cerebral palsy
  • Hearing or vision problems
  • Metabolic disorders, such as phenylketonuria (PKU)
  • Disorders that cause the brain or the body to break down (degenerative disorders)
  • Disorders of the brain caused by a trauma or an infection
  • Damage to the brain before birth (prenatal)

What tests your child needs depends on the specific signs and symptoms. Tests may include:

  • Blood tests
  • Urine tests
  • Imaging tests such as magnetic resonance imaging (MRI) or computed tomography (CT)
  • Hearing tests
  • Eye and vision exams
  • The brain activity of the test (electroencephalograms, also called Eeg)

The main symptoms

The diagnosis of classic Rett syndrome includes these core symptoms, which may start to appear at any time from 6 to 18 months of age:

  • Partial or complete loss of purposeful hand skills
  • Partial or complete loss of the spoken language
  • Walking problems, such as difficulty walking or not being able to walk
  • Repetitive involuntary movements of the hand, such as shaking hands, squeezing, clapping or touch, putting hands in the mouth, or wash and rub the movements

The additional symptoms that typically occur with Rett syndrome may support the diagnosis.

Guidelines for the diagnosis of atypical forms of Rett syndrome may vary slightly, but the symptoms are the same, with varying degrees of severity.

Genetic testing

If your doctor suspects Rett syndrome after evaluation, genetic testing (DNA testing) may be required to confirm the diagnosis. The test requires the preparation of a small amount of blood from a vein in the arm of his son. The blood is sent to a laboratory, where the DNA is examined for clues about the cause and the severity of the disorder. Proof of the changes in the MEPC2 gene confirms the diagnosis. Genetic counseling can help to understand the changes in genes and their effects.

Treatment

Although there is no cure for Rett syndrome, treatments address symptoms and provide support. These can improve the chances of movement, communication and social participation. The need for treatment and support doesn't end when the children get older — often needed throughout life. The treatment of Rett syndrome requires a team approach.

The treatments that can help children and adults with Rett syndrome are:

  • The Regular health care. The management of symptoms and health problems may require a multidisciplinary team. The Regular monitoring of the physical changes, such as scoliosis, gastrointestinal (GI) issues and problems of the heart that is needed.
  • Drugs. Despite the fact that the drugs can't cure Rett syndrome, which can help control some of the signs and symptoms that are part of the disease. Medications can help with seizures, muscle stiffness, or problems with breathing, sleep, gastrointestinal (GI) tract, or heart.
  • The physical therapy. The physical therapy and the use of orthopedic devices or molds can help children who have scoliosis or require a hand or support to the joints. In some cases, physical therapy can also help to maintain the movement, to create a proper sitting position, and improve walking skills, balance, and flexibility. Assistive devices such as a walker or a wheelchair can be useful.
  • Occupational therapy. Occupational therapy can improve the purposeful use of the hands for activities such as dressing and feeding. If repetitive arm and hand movements are a problem, splints that restrict the elbow or wrist movement can be helpful.
  • Speech and language therapy. Speech and language therapy can help improve a child's life by teaching nonverbal ways of communication and to help with the social interaction.
  • Nutritional support. Proper nutrition is very important for the healthy growth and to the improvement of the mental, physical and social skills. A high-calorie, well-balanced diet can be recommended. Feeding strategies to prevent choking or vomiting are important. Some children and adults need to be fed through a tube that is placed directly into the stomach (gastrostomy).
  • Behavior intervention. Practice and the development of good sleep habits can be useful for sleep disorders. Therapies can help improve your child's problem behaviors.
  • Support services. Programs of early intervention and school, social, and employment training services can help with the integration in school, work and social activities. Special accommodations that may make it possible to participation.

Alternative medicine

Some examples of complementary therapies that have been tried in children with Rett syndrome are:

  • Music therapy
  • Massage therapy
  • Hydrotherapy, which is to swim or move around in the water
  • Animal-assisted therapy, such as horseback riding therapeutic
  • The adapted sports and recreational activities

Although there is relatively little evidence that these approaches are effective, can provide opportunities for the increased circulation and social and recreational enrichment.

If you think alternative or complementary therapy that can help your child, talk with your doctor or therapist. Discuss the potential benefits and risks, and how the approach might fit into the medical treatment plan.

Coping and support

Children and adults with Rett syndrome needs help with most daily tasks, such as eating, walking and using the bathroom. This constant care and sleep disorders can be exhausting and stressful for families and can affect the health and well-being of the members of the family.

To better address the challenges:

  • Finding ways to relieve stress. It is natural to feel overwhelmed at times. Talk about your problems with a trusted friend or family member to help relieve your stress. Take some time out for yourself and do something you like, so you can relax.
  • The arrangements for foreign aid. If you take care of your child in the house, seek the help of outside caregivers who can give you a break once in a while. Or you may want to consider residential care at some point in time, especially when your child becomes an adult.
  • Connect with others. Meet other families who are facing problems similar to yours, can help you feel less alone. Look for online help and information from organizations such as the International Foundation Rett Syndrome.

Preparing for your appointment

Your child's health care provider will look for the problems of development in the regular check-ups. If your child shows signs or symptoms of Rett syndrome, you may be referred to a pediatric neurologist or developmental pediatrician of testing and diagnosis.

Here's some information to help you prepare for your child's appointment. If possible, bring a family member or a friend with you. A companion of confidence can help you remember the information, and provide emotional support.

What you can do

Before your appointment, make a list of:

  • Any unusual behavior or other signs. Your doctor will examine your child with care and checked by a delay in growth and development, but your daily observations are very important.
  • Some of the medicines your child takes. Include all the vitamins, herbs, supplements, and nonprescription drugs, and doses.
  • Questions to ask your doctor. Be sure to ask questions when you don't understand something.

Questions could include:

  • Why do you think that my child does (or does not) have Rett syndrome?
  • Is there a way to confirm the diagnosis?
  • What are other possible causes of the symptoms of my son?
  • If my child has Rett syndrome, there is a way to know how serious is it?
  • What changes can I expect to see my child over time?
  • I take care of my child in the house, or do I have to look outside of the additional care or support in the home?
  • What kind of special therapies for children with Rett syndrome need?
  • How much and what type of regular medical care will my child need?
  • What kind of assistance 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?

What to expect from your doctor

Your health care provider will ask questions such as:

  • When did you first notice their child's unusual behavior or other signs that something may be wrong?
  • What could you do your child before your child can't do?
  • How severe your child's signs and symptoms? 're doing increasingly worse?
  • What, if anything, seems to improve the symptoms of your child?
  • What, if anything, appears to worsen the symptoms of your child?

Your doctor will ask additional questions based on their responses and symptoms of your child and their needs. Prepare and anticipate the questions will help you make the most of your appointment time.

Symptoms and treatment of Rett syndrome