Home » what is the genetic disease of “girls with beautiful eyes” – breaking latest news

what is the genetic disease of “girls with beautiful eyes” – breaking latest news

by admin
what is the genetic disease of “girls with beautiful eyes” – breaking latest news

by Health Editorial Staff

It is a rare neurodevelopmental disorder that almost exclusively affects females. The onset is sudden and the progression disabling: after 6-18 months of normal life, the acquired psychomotor skills are suddenly lost

Rett syndrome (RTT) is a rare neurodevelopmental disorder of genetic origin, which almost exclusively affects females. It is also known as “pretty-eyed girls syndrome”, because those affected can only communicate with their gaze.

Symptoms

The prevalence is estimated at 1 in 9,000 in 12-year-old girls and the prevalence in the general population is estimated at approximately 1 in 30,000: it is the second cause of mental retardation in girls. It is progressive and disabling: it appears suddenly after the first 6-18 months of life, when development stops and regresses. Psychomotor skills are lost: the use of speech, hands and legs, control of movements.
The main symptoms are: progressive loss of motor skills, manual skills, interest in the environment, appearance of stereotyped hand movements. The syndrome manifests itself with different variants which involve different symptoms depending on the case: they have an autistic attitude in common, then there may be greater or lesser difficulties at a cognitive or communication level, in the movement of the limbs, some sufferers have convulsions, others have respiratory problems, epileptic seizures, scoliosis, gastrointestinal disorders, sleep disorders. Patients suffering from RTT are at risk of developing life-threatening cardiac arrhythmias.

Discoveries

For many years the disease was classified as neurodegenerative, but in 2007 the British geneticist Adrian Bird demonstrated that it was reversible. Neurons do not die, as previously thought, but suffer from communication problems at the synapse level. From a genetic point of view, after 1999, the year in which the MECP2 gene was identified as the cause of the classic form, and which involves the majority of girls with Rett Syndrome, numerous steps forward have been made. Currently, two other genes responsible for Rett Syndrome have been discovered CDKL5 and FOXG1.

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New therapies

In Canada since 2023 there has been the first patient treated with a new gene therapy and there are two ongoing clinical trials.
Promising but early studies are also those relating to genome editing with the CRISPR technique.
And based on positive results from clinical trials, in March 2023 the US Food and Drug Administration approved trofinetide, the first drug for Rett syndrome, currently marketed only in the United States. The data collected showed that, compared to placebo, trofinetide was associated with a statistically significant improvement in the clinical conditions of the subjects involved.
While waiting for research developments, therapies in Italy today include pharmacological approaches that improve sleep and breathing disorders, epileptic seizures, stereotyped hand movements and the general state of health.

The associations

The families of the girls can rely on the consortium, AIRETT Research Team, promoted by the Italian Rett Association which includes the IRCCS «Mario Negri» of Milan, the Istituto Superiore di Sanità, the IRCCS- Istituto Auxologico of Milan, the the Institute of Neuroscience of the Cnr of Pisa, the Department of Neuroscience of the University of Turin, the Institute of Genetics and Biophysics of the Cnr and the Complex Operational Unit of Medical Genetics of the University of Siena. The associations (there are also ConRett Onlus, PRO-RETT Ricerca, UNIRETT – Unione Italiana Rett) also help parents to orient themselves to improve not only the girls’ health but also communication options.

New technologies

For example, in 2021 Airett launched an innovative technological platform (called Amelie) with eye tracking (eye tracker) and smartphone app, designed and created to facilitate communication, interaction and learning for young patients. Through the platform it is possible to photograph people or things and create communication tables that are transmitted to a PC with which the girls, using a digital camera, with just the movement of their eyes “choose” one of the images sent and therefore interact with those who has mandates.

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February 15, 2024 (changed February 15, 2024 | 11:20)

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