Reconciling mental handicap and quality of life
“Care –research – information”: the guiding principle linking the three missions of the Jérôme Lejeune Institute is overall focus on the patient, which is essential to the development of the disabled person, and his/her physical, mental and social well-being.
Although medical research is making encouraging progress, it has not yet come up with treatments capable of curing genetic diseases. “Breakthroughs are expected”, agrees Dr Aimé Ravel, the paediatrician in charge of consultation at the Jérôme Lejeune Institute, “but meanwhile, we can do a lot to bring relief to patients and the people around them. Medical treatment is not the only important factor.” “What are the keys to happiness for each of us? Feeling loved; feeling useful; having projects!” For many years, the Jérôme Lejeune Institute has been focusing on the person suffering from the intellectual disability in his/her entirety to help patients access these keys.
Prevention and care
“We give the time it takes to diagnose, treat and prevent the complications resulting from the illness or linked to lifestyle, specifies Dr Clotilde Mircher. The growth hormone treatment given to Prader-Willi patients limits obesity and its effects”. Each syndrome has a different treatment. For instance, the night/day inversion caused by the Smith Magenis syndrome can be regulated. “This opens the door to better learning for the child, but it is not a miracle cure” nuances Dr Mircher. The complications of genetic disease often have a negative impact on the health and well-being of the people they afflict. Sleep apnoea, formerly considered benign, retard the development of young children, and cause cognitive regression in adults. They can now be treated.
As a consequence of the various treatments implemented, an increase in the life expectancy of people afflicted with a genetic intellectual deficiency has been observed over the past few decades.
Comprehensive patient care, a better place in society
Intellectual disability is often associated with other neuropsychological disorders that hinder learning, personal development and social induction: hypotonia, difficulties with general motor skills, fine motor skills, retarded oral expression, etc. Developing a personalised treatment project in collaboration with all professionals in the field is therefore a fundamental step. The Jérôme Lejeune Institute sometimes advises early treatment in one or several fields: physiotherapy, psychology, psychomotricity, speech therapy, etc.
“Often, mentally handicapped children do not have good body awareness, especially with regard to the mouth”, explains Julie de Reynal, a speech therapist at the Jérôme Lejeune Institute.” “So, they have to be guided into perception of this area by massages, breathing exercises and by giving the child non-verbal means of communicating such as pointing or sign language.” These all foster and facilitate communication.” Adults who can express themselves have fewer behaviour problems”, observes the speech therapist.
“Today, we treat them better and offer them a better position in society” Dr Mircher is happy to add. “Care, treatment, preventing complications are not, when conducted separately, revolutionary methods but when they are placed back to back, they can have a significant positive impact.”