Rett syndrome diagnosis and life expectancy

Rett's syndrome, also called cerebro-atrophic hyperammonemia, is a rare genetic disease that affects the nervous system and affects almost exclusively girls.

Children with Rett syndrome stop playing, become isolated and lose their learned skills, such as walking, speaking or even moving their hands, giving rise to involuntary hand movements that are characteristic of the disease.

Rett syndrome has no cure but can be controlled with the use of drugs that reduce epileptic seizures, spasticity and breathing, for example. But physical therapy and psychomotor stimulation are of great help, and should be performed, preferably, daily.

Features of Rett Syndrome

Despite the symptoms that most call the attention of parents appear only after 6 months of life, the baby with Rett syndrome has hypotonia, and can be seen by parents and family as a very 'good' baby and easy to care for.

This syndrome develops in 4 phases and sometimes the diagnosis only arrives at around 1 year of age, or later, depending on the signs that each child presents.

First phase, occurs between 6 and 18 months of life, and there are:

Stopped in the child's development; The head circumference does not follow the normal growth curve; Decreased interest in other people or children, with a tendency to isolate themselves.

Second phase, occurs from the age of 3 and can last for weeks or months:

The child cries a lot, even for no apparent reason; The child always remains irritated; Repetitive movements appear with the hands; Respiratory changes appear, with breathing stopped during the day, moment of increased respiratory rate; Convulsive crises and attacks of epilepsy during throughout the day; sleep disorders may be common; the child who has already spoken may stop speaking altogether.

Third phase, which occurred around 2 and 10 years ago:

There may be some improvement in the symptoms presented so far and the child may show interest in others again; The difficulty in moving the trunk is evident, there is difficulty in standing up; Spasticity may be present; There is development of a scoliosis that impairs the function of the lung; grinding of teeth during sleep is common; feeding may be normal and the child's weight also tends to be normal, with a slight increase in weight; the child may lose breath, swallow air and have too much saliva.

Fourth phase, which occurs around the age of 10 years ago:

Loss of movement little by little and worsening of scoliosis; Mental disability becomes severe; Children who were able to walk lose this ability and need a wheelchair.

Children who can learn to walk still have some difficulty in moving and generally tiptoe or take the first steps backwards. Furthermore, they may not be able to get anywhere and their walk seems to be purposeless because she does not walk to meet another person, or to pick up any toys, for example.

How the diagnosis is made

?????? The diagnosis is made by the neuropediatrician who will analyze each child in detail, according to the signs presented. For diagnosis, at least the following characteristics must be observed:

Apparently normal development until 5 months of age; Normal head size at birth, but that does not follow the ideal measurement after 5 months of life; Loss of the ability to move hands normally around 24 and 30 months, giving rise uncontrolled movements such as twisting or bringing your hands to your mouth; the child stops interacting with other people at the onset of these symptoms; lack of coordination of trunk movements and uncoordinated walking; something and does not understand when we talk to her; Severe developmental delay, with sitting, crawling, talking and walking much later than expected.

Another more reliable way of knowing if this syndrome really is is by having a genetic test because about 80% of children with classic Rett syndrome have mutations in the MECP2 gene. This examination cannot be done by SUS, but it cannot be denied by private health plans, and if this happens, you must file a lawsuit.

Life expectancy

Children diagnosed with Rett Syndrome can live a long time, past 35 years of age, but can suffer sudden death while sleeping, while they are still babies. Some situations that favor serious complications that can be fatal include the presence of infections, respiratory diseases that develop due to scoliosis and poor lung expansion.

The child can attend school and can learn certain things, but ideally, it should be integrated into special education, where its presence will not attract much attention, which could impair its interaction with others.

What causes Rett syndrome

Rett syndrome is a genetic disease and usually the affected children are the only ones in the family, unless you have a twin brother, who will likely have the same disease. This disease is not associated with any action that has been taken by parents, and therefore, parents need not feel guilty.

Treatment for Rett Syndrome

Treatment should be carried out by the pediatrician until the child is 18 years old, and should be followed by a general practitioner or neurologist after that.

Consultations should take place every 6 months and in them vital signs, height, weight, correct medication, assessment of child development, skin changes such as the presence of decubitus wounds, which are the bedsores that can become infected, can be observed, increasing the risk of death. Other aspects that may be important are the evaluation of development and the respiratory and circulatory system.

Physiotherapy should be performed throughout the life of the person with Rett Syndrome and are useful for improving tone, posture, breathing and techniques such as Bobath can be used to assist child development.

Psychomotor stimulation sessions can be held about 3 times a week and can help with motor development, decrease the severity of scoliosis, drool control and social interaction, for example. The therapist can indicate some exercises that can be performed at home by the parents so that the neurological and motor stimulus is performed daily.

Having a person with Rett Syndrome at home is a tiring and difficult task. Parents can become very emotionally drained and so they may be advised to be followed by psychologists who can help to deal with their emotions.