Edited by Dr. Sarah Beggiato
Definition
Rett syndrome is a rare genetic disorder that affects the way the brain develops and affects girls almost exclusively. After birth, many girls with Rett syndrome appear to develop normally, but superficial symptoms appear as early as 6 months of age.
Causes
Rett syndrome is a genetic disorder that is inherited only in a few cases. In fact, the genetic mutation that causes the disease occurs mostly spontaneously and randomly.
Because boys have a different chromosomal combination than girls, children affected by the genetic mutation that causes Rett syndrome are affected in devastating ways: many of them die before birth or in early childhood; a very small number of them die. these boys develop less severe Rett syndrome. Similar to the affected girls, these boys probably live to adulthood, but still have the risk of developing behavior and health problems.
Symptoms
Babies with Rett syndrome are generally born after a normal gestation period. During the first six months of life, many of them appear to grow and behave normally; however, after this time, the symptoms and signs of Rett syndrome begin to appear.
The most noticeable changes generally occur around 12-18 months of age, over a period of weeks or months. Rett syndrome symptoms include:
- Slowing of brain development after birth. Normally, babies with Rett syndrome have a smaller head, which becomes noticeable after 6 months of age. As the baby grows, there is also a noticeable delay in the development of other parts of the body.
- Loss of normal movement and coordination: The loss of the most common movement skills (motor skills) usually occurs between 12 and 18 months of age. Early signs often include decreased hand control and decreased ability to crawl or walk normally. At first, the loss of these abilities occurs rapidly, then continues gradually.
- Loss of ability to communicate and think: Children with Rett syndrome generally begin to lose the ability to speak and communicate in other ways. They can become disinterested in others, in toys and their environment. Some children experience rapid changes, such as sudden loss of speech. Over time, most children gradually regain eye contact and develop non-verbal communication skills.
- Abnormal hand movements: As the disease progresses, children with Rett syndrome develop a particular way of moving their hands, which includes twisting, squeezing, clapping, or rubbing their hands.
- Abnormal eye movement: Children with Rett syndrome tend to move their eyes abnormally. For example, they may stare for a long time, blink or close one eye at a time.
- Breathing problems: such as apnea, hyperventilation, forced exhalation of air or saliva. These problems tend to occur during the waking hours, but not during sleep.
- Irritability: Children with Rett's syndrome become particularly agitated and irritated as they grow up. Periods of crying or screaming can suddenly occur that can last for hours.
- Abnormal behaviors: These can include sudden, strange, facial expressions and long bouts of laughter, screams that occur for no apparent reason, or children lick their hands, or grab their hair or clothes.
- Seizures: Most children with Rett syndrome experience seizures during their lifetime. Symptoms vary from person to person and can range from periodic muscle spasms to full-blown epilepsy.
- Abnormal bending of the spine (scoliosis).
- Irregular heartbeat: This is a serious problem for many children and adults with Rett syndrome, as it is life threatening.
- Constipation
Stages of Rett syndrome
The disease can be divided into 4 stages:
- Stage I: Symptoms are subtle and during this first stage, which begins between 6 and 18 months of age, they are often overlooked. Children may show less eye contact and begin to lose interest in toys; they may also be late in sitting or crawling.
- Stage II: Between 12 months and 4 years of age, children with Rett's syndrome gradually lose the ability to speak and use their hands purposefully. Repetitive hand movements, without a purpose, begin to appear at this stage. Some children with Rett's disease hold their breath or hyperventilate. They may cry or scream for no apparent reason. Often it becomes difficult for them to move on their own.
- Stage III: the third stage represents the plateau of the disease. This phase usually occurs between 2 and 10 years of age, and can last for years. Although movement problems continue, behavior can improve. Often, at this stage, babies cry less and are also less irritable. Increases eye contact and also the use of hands and eyes to communicate usually improves at this stage.
- Stage IV: The last stage of Rett syndrome is characterized by reduced mobility, muscle weakness and the onset of scoliosis. The ability to understand and communicate and manual skills usually do not decline further at this stage. In fact, the movements repetitive hands may decrease. Although death can occur early, the average age of people with Rett syndrome is 50 years. Patients generally need care and assistance throughout their lives.
When it is necessary to go to the doctor
Since the symptoms of this disease are subtle in the early stages, it is necessary to show the child to the doctor as soon as you begin to notice physical problems or behavioral changes such as:
- Slowed growth of the baby's head or other parts of the body
- Decreased coordination or impaired movement such as repetitive movements of the head;
- Reduced eye contact or loss of interest in normal play activities;
- Speech delay or premature loss of speech skills
- Behavior problems or marked mood swings;
- Clear loss of previously acquired milestones in motor skills.
Test and diagnosis
The diagnosis of Rett syndrome involves a series of careful observations, ranging from assessing the child's growth and development to investigating his medical and family history. The child also undergoes some tests to check for other conditions that can cause some of the symptoms of the disease (differential diagnosis). Some of these conditions include:
- other genetic disorders
- autism
- cerebral palsy
- vision or hearing problems
- epilepsy
- degenerative disorders
- central nervous system disorders caused by trauma or infection
- prenatal brain damage
Some tests used for diagnosing Rett syndrome include:
- blood and urine tests
- test to measure the speed of impulses between nerves
- imaging tests, such as MRI or scan computed tomography
- hearing test
- tests to check eyesight
- test to check brain activity (electroencephalogram).
The attending physician may also suggest DNA testing to confirm Rett syndrome. Generally, if the doctor suspects that it is Rett syndrome, they will use a set of official diagnostic criteria.
Treatment of Rett's syndrome
The treatment of the disease involves a team approach, which includes regular medical support, physical therapy, professional and speech training, as well as a use of social services. Therapy must be maintained for life.
Treatments that can help children and adults with Rett syndrome include:
- dressings: they do not cure the disease, but they help control some of the symptoms and signs associated with the disease, such as seizures and muscle stiffness;
- physical therapy and speech therapist;
- Nutritional Support: Adequate nutrition is extremely important, both for normal growth and for improving mental and social skills. Some children with Rett syndrome need a high calorie intake and a well-balanced diet. Others need to feed through a nasogastric tube or directly into the stomach (gastrostomy).
