Rett syndrome: Symptoms, diagnosis, therapy and life expectancy
The Rett syndrome, considered a rare disease by its low prevalence, is one of the most unknown genetic disorders. It originates from the mutation of a gene on the X chromosome, directly attacking the central nervous system. It usually appears between 6-18 months of age, time from which leave hands, appear limited mobility and coordination, loss of motor skills, communication and social interaction. The disease takes its name from Andreas Rett, the Austrian-born professor who deciphered it for the first time, a syndrome that tends to be progressive and causes severe disability.
During the first months of life it makes nothing presage that it is there. However, at a certain moment, development stops and the child loses capabilities had been acquiring. In particular, a deceleration of the development takes place and lost skills.
Patients affected by this disease also show a progressive loss of interest in the social environment. All this is associated with growth retardation and other symptomatic manifestations, like irregular breathing, muscle stiffness, muscular atrophy and deformity.
The exact cause of Rett syndrome is unknown today. The scientific research found significant responses until now to know that the disease can be caused by mutations affecting the MECP2 gene, located on X chromosome. The function of this gene is the production of a particular protein. In other cases, however, it was found that the syndrome would be caused by mutations in other genes, such as CDKL5 or Foxg1.
Diagnostic criteria for identifying syndrome in children are different.
Generally the prenatal development is used as starting point and regular in the first 5 months after birth is usually used as a starting point.
From that moment are taken into account other factors, such as the slowdown in the growth of the head between 5 and 48 months, loss of manual dexterity with the emergence of stereotyped movements, such as torsion, the emergence of uncoordinated movements, the delayed language development and loss of interest in relation to social interaction.
There is no cure for Rett syndrome. Various investigations have been hypothesized that acting in the levels of protein produced by the MECP2 gene could restore functional alterations. The current treatments allow to control the side effects provoked by the illness.
Among the most widely used drugs are those that help to counteract the motor disorder, such as bromocriptine and lisuride. Scientific studies have also shown a positive trend in relieving respiratory symptoms and behavior and seizures by administration of Naltrexone or traditional antiepileptic.
In addition to the necessary psychological support, there are therapies and physiotherapy treatments which help to maintain the skills related to the use of communication, linguistic and gestural, affective emotional feedback, especially in the management of behavioral problems, and motivation. Other therapies that may help are hippotherapy, pet therapy and music therapy.
Rett syndrome can be very disabling, as it can prevent any physical movement, including the look and speech. All this creates huge problems for the development of personal autonomy, but, except in cases of complications, survival reaches up to adulthood.
Since it is a rare disease is known very little about the long-term prognosis. Studies have found that a child with Rett syndrome have a 95% chance of surviving to 20-25 years. Between 25 and 40 years, the survival rate drops to 70%.