Rett syndrome is a genetic disease affecting mainly girls, responsible for a serious developmental disorder of the central nervous system. The daughter of Jean-Marc Généreux, ex-juror of the program Dancing with the Stars on TF1, is affected.
Rett syndrome is a disease whose cause is genetic. It mainly affects girls and causes a serious neurological disorder. Jean-Marc Genereux, ex-juror of the TF1 show “Dance with the stars” published a video in February 2023 with Francesca, her 24-year-old daughter with Rett’s disease. “My daughter has Rett Syndrome (…) She’s with us, we have no intention of her going anywhere else, he explains. We will keep it with us (…) as long as we can.“A very heavy illness on a daily basis: “My little girl has the abilities of an 8 month old. She turns her head when we say her name, but that’s about the only gesture she can make. Otherwise, these are diapers, epilepsy, hyperventilation, apneaa slight scoliosis… We take care of her, with three meals a day, daily bathing and constant hygiene” explained Jean-Marc Généreux at the microphone ofEuropean 1 in 2020. What are the symptoms Rett syndrome? Which is life expectancy patients affected? Are there any treatments?
Definition: what is Rett syndrome?
Rett syndrome refers to a rare disease of genetic origin which is characterized by a severe neurological disorder and evolutionary affecting mostly girls. This disorder causes mental disability and severe motor impairment.
Prevalence of Rett syndrome in France
“Rett syndrome involves one in 10 births in approximately 15,000, which translates into 25 to 40 new cases per year in France, i.e. 20 children every day worldwide. This is the first cause of polyhandicap in France for girls” explains Audrey Granado.
Who is most at risk of getting Rett syndrome? Girls ?
“Rett’s syndrome is a rare sporadic disease whose anyone can be affected because it is a genetic mutation called de novo, which is not carried by the mother or the father and which appears at the time of fertilization. It can happen to anyone, without the parents being carriers. observes the director of the AFSR.
What are the causes of Rett syndrome?
Rett syndrome is associated in more than 95% of cases with MeCP2 gene mutation (methyl-CpG-binding protein 2), gene carried by the X chromosome, which is at the origin of the disorder. “However, mutations diagnosed in the CDKL5 and FOXG1 genes resulting in a variant form with early onset epilepsy, have long been assimilated to Rett syndrome. Although today described as distinct diseases, the clinical pictures of the patients being partially similar, close relations have been woven between the families as well as between the researchers” shade Audrey Granado.
What are the symptoms of Rett syndrome?
“At birth and in the first months of life, development is normal. After this first so-called “silent” phase, Rett’s syndrome then evolves in four successive periods”explains the Director of the AFSR:
► Early stagnation phase. The first symptoms generally appear between the age of 6 and 18 months: there is a delay in psychomotor acquisitions, but without any real regression.
► Rapid neurological regression phase. Between 1 and 4 years, there is a regression of motor and mental functions, as well as the very characteristic loss of use of the hands and the appearance of manual stereotypies. This phase is in most cases very rapid or even brutal, but it may also last several months. It occurs between 1 and 4 years.
► Pseudo-stationary phase. Between 2 and 10 years, there is a relative recovery of communication capacity (visual pointing maintained) as well as a decrease in autistic disorders.
“The child is born, it develops normally, during the first months until it regresses”
► Late motor deterioration phase. For girls who have never learned to walk, phase 4 comes just after phase 2. For so-called walking children, from the age of 10, there is the appearance of new specific and disabling symptoms, such as tone disorders (dystonia, hypotonia)as well as skeletal deformities (scoliosis, kyphosis, lordosis). Nevertheless, the abilities of eye contact and socialization continue into adulthood. “The child is born, he develops normally, during the first months until he regresses and loses some of his acquisitions such as walking, sometimes even sitting, the voluntary use of hands, speech. All people with Rett syndrome are very different, but they all have in common this look so intense and particular that goes straight to your heart. They have a great appetite for life and quite commonly love music, children and stories. They sometimes go through difficult times and hardships but show great strength. Rett syndrome is potentially curable. We have high hopes for medical research in the years to come thanks to the development of innovative biotherapies including gene therapy”comments Audrey Granado.
How to diagnose Rett syndrome?
The diagnosis is based on theobservation of the symptoms of the disease and uses several specific criteria. “Diagnosis takes time because there is a period of normal development. In most cases it is the parents who notice the first symptoms, and although doctors are now more familiar with Rett syndrome, it regularly happens that families know a period of diagnostic wandering. Rett syndrome cannot be diagnosed prenatally. This anomaly is not visible on a standard karyotype. It can only be detected by a targeted gene analysisor by a global analysis using recent techniques of high throughput sequencing“, says Audrey Granado.
Most patients with Rett syndrome reach adulthood
What are the treatments for Rett syndrome?
There is no no curative treatment for Rett syndrome. Support is based on multidisciplinary rehabilitation and on the specific treatment of certain symptoms of the disease and depends on the evolution and intensity of the symptoms and aims in particular to:
- treat the symptoms (osteoporosis, epilepsy, scoliosis, ventilatory and gastrointestinal disorders, etc.),
- maintaining joint mobility (physiotherapy, psychomotricity, occupational therapy, etc.),
- limit and/or correct orthopedic deformities, severe scoliosis (braces, surgery).
- treat respiratory problems.
- treat speech disorders with a speech therapist.
“This support can be supplemented by other types of support such as balneotherapy, music, equitherapy, sensory awakening, etc.” emphasizes Audrey Granado.
What is the life expectancy when you have Rett syndrome?
Most patients with Rett syndrome achievet adulthood (about 60% over 37). “It is said that the dean in the world has celebrated her 77th birthday, the dean of the French Association of Rett Syndrome has passed her 60th birthday. The diagnosis, treatment and knowledge of Rett syndrome have considerably evolved in recent years, all these figures and statistics are therefore likely to change in the years to come” comments Audrey Ganado.
What are the consequences of Rett syndrome?
“People with Rett syndrome are dependent for all daily activities : Rett syndrome is invasive so it is relatively complicated. Some are educated up to the large kindergarten section, they do two years or even three, with the help of an AVS (accompanying students with disabilities). The stimulation of these children is essential and integration into a crèche or school environment is absolutely beneficial, for them as well as for their classmates, who take a simple and naturally benevolent look at the sick child. Otherwise, they go to a specialized center or they stay home with liberal care. It often happens that one of the two parents is forced to reduce or stop their professional activity. explains the director of the AFSR.
Which association takes care of Rett syndrome?
I’AFSR (French Rett Syndrome Association) has existed for 32 years. Each year, it brings together more than 450 families. “Our mission is to provide moral support to families, to help them with their administrative procedures, to inform about the disease and its treatment. We also support medical research, Rett syndrome is complex but potentially curable, this is why we have invested more than 1.3 million euros in it since its creation. recognition of the person with multiple disabilities within the community” specifies the director of the Association.
Thanks to Audrey Granado, director of the French Association of Rett Syndrome.