Genetic diseases of the mind: a multidisciplinary care is needed

Support people with a genetic disease of the mind requires to establish a multidisciplinary follow-up in which all professionals (doctors, nurses, speech therapists, psychologists, educators, therapists, psychomotor ...) have place, argued experts at a press conference in Paris.
Trisomy 21
The intelligence diseases affect 1-2% of the French population and about 800,000 people with intellectual disabilities, including nearly 60,000 holders of trisomy 21. The latter is the main cause of mental retardation of genetic origin but there are also hundreds of genetic abnormalities responsible for mental retardation, including disease X-linked syndrome (fragile X syndrome, Williams- Beuren syndrome, Smith Magenis).

After organizing international days mainly on research, the Jérôme Lejeune Foundation proposed at the Pasteur Institute in Paris, clinical days to bring together researchers practitioners. Entitled "Genetic Diseases of intelligence support and therapeutic perspectives", this event brought together about 400 professionals (researchers, doctors and paramedics involved in the management of disability).

These clinical days, during which were presented clinical advances and technological advances had intended in particular to "persuade not only professionals but also the general public, which can do more than just improve the quality of life sick and there are treatment options, "argued Dr. Sylvie de Kermadec, director of the Institute Jerome Lejeune.

Indeed, "for these diseases, it is possible to imagine a treatment like any other disease," said Dr. Henry Bléhaut, research coordinator at the Foundation and the Jerome Lejeune Institute, noting that " nothing says it will not be possible one day to treat mental deficits associated with trisomy 21. " The onset of mental retardation can be prevented already for forty genetic diseases of the mind, such as phenylketonuria, for example, he noted.

But these conditions do not affect the intelligence and patients often must also deal with various pathologies associated (ENT disorders, orthopedic ...), sometimes curable if they are supported in time. These aspects and prevention of the occurrence of surhandicaps patients suffering from diseases of the mind will be discussed during the conference, during which a session will be devoted to pain.

Pain: a difficult management
For if the mental impairment alone does not cause pain, the various disorders that associate themselves can generate and patients with a genetic disease of the mind face, like everyone, from the related pain care or postoperative pain, for example.

"Even if people with mental retardation or related interpret pain differently than the general population, they feel pain, which simply does not arise in the same way," said Dr. Marc Tasse, University of Carolina North at Chapel Hill.

In practice, a health professional must keep in mind that "we must not assume the absence of pain when the person does not complain and should be on the lookout," he said. Among the warning signs should not be overlooked: the appearance of behavioral disorders. "In these patients, behavioral disorders are usually not associated with mental impairment but a very specific reason, most often problems with their environment or sometimes causes physical pain-as-for example, psychiatric," said North American specialist stating that the victims of genetic diseases of the mind are nearly three times more likely than average to develop anxiety disorders or depression types.

Knowing this, when a person with an intellectual disability is present in consultation for a behavioral disorder must make "a comprehensive interdisciplinary assessment: psychiatric physical, but also therapeutic (looking for drug interactions) and taking into account environmental "contingencies. The presence of a potential pain and should be actively sought, as conventional pain assessment (scale) tools are not suitable in this situation, in part because they are based on a concept too abstract and secondly because communication difficulties sometimes present people with a genetic disease of the mind is another obstacle to their use.

This careful observation of possible indicators of suffering unspoken "is the responsibility of professionals, but also the family, who observed changes in behavior in the daily person and alert us to these disorders," said Dr. Marc Tasse.

"The first actors to be very careful, it is the parents" and "health professionals must know how to listen," confirmed Dr. Daniele Sommelet, President of the French Pediatric Society (SFP). According to her, it is necessary to organize care according to a model based on "a strong relationship between professionals, not just doctors, but also nurses and care teams and social workers", with "the center, the child and his parents. "

Nearly 3,800 patients were followed for Jerome Lejeune Institute, referral center for comprehensive care mental disabilities of genetic origin and the Foundation Jerome Lejeune percent funded research programs in 2005, amounting to two million euros.