Definition
Rett syndrome is a rare genetic disorder that affects the way the brain develops and affects almost exclusively girls. 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 only inherited in a few cases. In fact, the genetic mutation that causes the disease mostly occurs spontaneously and randomly.
Since males have a different chromosome combination than females, children affected by the genetic mutation that causes Rett syndrome are affected in devastating ways: many of them die before birth or early in childhood; a very small number of these children develop the less severe Rett syndrome. Similar to the children affected, these children probably live up to adulthood, but still have the risk of developing behavioral and health problems.
Symptoms
Children with Rett syndrome are generally born after a normal gestation period. During the first six months of life, many of them seem to grow and behave normally; however, after this period, the symptoms and signs of Rett syndrome begin to appear.
The most obvious changes generally occur around 12-18 months of age, over a period of weeks or months. Symptoms from Rett syndrome include:
- Slow development of the brain after birth. Normally children with Rett syndrome have a smaller head, which becomes evident after 6 months of age. During the growth of the child, there is also a noticeable delay in the development of other parts of the body.
- Loss of normal movements and coordination: the loss of the most common movement skills (motor skills) usually occurs between 12 and 18 months of age. The first signs often include a reduction in hand control and a reduction in the ability to crawl or walk normally. In the beginning the loss of these abilities occurs quickly, then it continues gradually.
- Loss of the 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 towards others, towards toys and their environment. In some children there are rapid changes, such as the sudden loss of speech. Over time, most children gradually regain eye contact and develop non-verbal communication skills.
- Abnormal movements of the hands: in the progression phase of the disease, children affected by Rett syndrome develop a particular way of moving their hands, which includes twisting their hands, squeezing them, beating them or rubbing them.
- Abnormal eye movement: children with Rett syndrome tend to move their eyes abnormally. For example, they can stare long, blink or close one eye at a time.
- Breathing problems: such as apnea, hyperventilation, forced expiration of air or saliva. These problems tend to occur during waking hours, but not during sleep.
- Irritability: children with Rett syndrome become particularly agitated and irritated during the growing period. Periods of crying or screaming can occur suddenly, which can last for hours.
- Abnormal behaviors: they can include sudden, strange, facial expressions and long attacks of laughter, screams that manifest themselves for no apparent reason, or even children lick their hands, or take their hair or clothes.
- Epileptic attacks: most children with Rett syndrome experience epileptic seizures during their lifetime. Symptoms vary from person to person and can range from periodic muscle spasms to overt epilepsy.
- Abnormal bending of the spine (scoliosis).
- Irregular heart beat: this is a serious problem for many children and adults with Rett syndrome, because it endangers them.
- Constipation
Stages of Rett syndrome
The disease can be divided into 4 stages:
- Stage I: the symptoms are subtle and during this first phase, which starts between 6 and 18 months of age, they are often overlooked. Children may show less eye contact and start losing 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 syndrome gradually lose the ability to speak and use their hands deliberately. Repetitive hand movements, without a purpose, begin to appear at this stage. Some children affected by Rett's disease hold their breath or hyperventilate. They can cry or scream for no apparent reason. Often it becomes difficult for them to move on their own.
- Stage III: tertiary stage represents the disease plateau. This phase usually occurs between 2 and 10 years of age, and can last for years. Although movement problems continue, behavior may improve. Often at this stage, children cry less and are even less irritable. It increases eye contact and also the use of hands and eyes to communicate usually improves in this phase.
- Stage IV: the last stage of Rett syndrome is characterized by reduced mobility, muscle weakness and the appearance of scoliosis. The ability to understand and communicate and manual skills do not usually decline further in this stage. In fact, repetitive hand movements 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:
- Slow growth of the head or other parts of the child's body;
- Decreased coordination or movement alterations; such as repetitive head movements;
- Reduction of eye contact or loss of interest in normal gaming activity;
- Delay in speech or early loss of speech skills;
- Marked behavior problems or mood swings;
- Clear loss of steps previously acquired in motor skills.
Test and diagnosis
The diagnosis of Rett syndrome involves a series of careful observations, ranging from assessing the growth of the child and his development to investigating his medical and family history. The child is also subjected to some tests to check the 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 the diagnosis of Rett syndrome include:
- blood and urine tests
- test to measure the speed of impulses between nerves
- imaging tests, such as MRI or computed tomography scan
- hearing test
- test to check the view
- test to check brain activity (electroencephalogram).
The attending physician may also suggest the DNA test to confirm Rett syndrome. Generally, if your doctor suspects that it is Rett syndrome, you will use a number of official diagnostic criteria.
Treatment of Rett syndrome
The treatment of the disease involves a team approach, which includes regular medical support, physical and professional therapy, and word training, as well as a recourse to social services. Therapy must be maintained for life.
Treatments that can help children and adults with Rett syndrome include:
- medications: they do not cure the disease, but 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 to improve mental and social skills. Some children with Rett syndrome need a high calorie intake, and a well-balanced diet. Others need to feed themselves through a nasogastric tube or directly into the stomach (gastrostomy).
