You have probably ever heard about the famous physicist Stephen Hawking, who died recently. You may also know DJ Pone, the french musician who performed during the opening ceremony of Tokyo’s Paralympic Games only with his eyes (his website : http://laslapourlesnuls.com/). These two people have one thing in common: they both suffer from amyotrophic lateral sclerosis (ALS*), more commonly known as Charcot (or Charcot-Marie-Tooth) disease.
ALS is a neurodegenerative disease affecting motor neurons. It affects 4 to 6 people per 100,000, mainly adults between 40 and 60 years old. The life expectancy with this disease is estimated to be between 2 and 5 years (Mondou et al., 2010). There are two forms of ALS. The first is the hereditary form, which represents 10 to 15% of cases and is linked to a genetic mutation, for example in the SOD1 gene. The second is sporadic, i.e. not linked to a family history (Miller et al., 2022).
For a long time, ALS was thought to be a motor disease exclusively. Indeed, in ALS we can observe a paralysis of all the muscles of the body, leading to death. However, it is not well known that this disease is also a cause of cognitive and behavioral disorders, which can be linked to those found in frontotemporal dementia (FTD). As a matter of fact, 40 to 50% of patients with ALS suffer from cognitive disorders. These disorders affect language, executive functions, verbal memory and social cognition. In addition, up to 63% of patients present behavioral disorders such as apathy, irritability, agitation, disinhibition… Finally, anxiety-depressive disorders can be observed in ALS. Around 10% of patients present depressive symptoms, which is nevertheless quite low regarding the severity of the disease (Mondou et al., 2010).
In terms of drug therapy, there is still no curative treatment. The vital prognosis of patients is therefore systematically engaged. The few existing drug treatments, such as Riluzol, are aimed to extend the patient’s survival as long as possible (a few months in general).
The current treatments and care are geared towards* reducing and relieving the various symptoms. To this extent, physiotherapists, occupational therapists*, speech therapists*, nurses, caregivers, dieticians, and so forth often work together to offer patients comfort and a suitable quality of life at the end of their lives.
The psychologist can provide psychological support throughout the illness in order to discuss the diagnosis or the patient’s fears, particularly about death. The psychologist also has a role to play with the family and caregivers (Belingher, 2008).
Current treatments and care remain limited and ALS is still considered a fatal and incurable disease. Nevertheless, a hopeful article (Miller et al., 2022) was published a few weeks ago, showing the efficacy of a new drug on ALS with SOD1 genetic mutation. Even though the results were not statistically significant, a decrease in the evolution of the pathology was observed, and even a stabilization. It is also shown that this treatment has a favorable tendency in quality of life, fatigue, muscle strength and respiratory functions.
This treatment appears promising for the future. Moreover, in a more general framework of treatments for incurable diseases, another recent study (Biogen & Esai Labs, 2022) showed that a drug was able to reduce the cognitive decline associated with Alzheimer’s disease by 27%. These breakthroughs* make it possible to question the incurable nature of neurodegenerative diseases and to rethink the role of the psychologist/neuropsychologist in the management of these medical conditions.
Words we learned (referred to in the text as “*”) :
- ALS : amyotrophic lateral sclerosis (sclérose latérale amyotrophique : maladie de Charcot)
- Geared towards (destiné à)
- Occupational therapist (ergothérapeute)
- Speech therapist (orthophoniste)
- Breakthrough (une percée, une avancée)
Bibliographie:
Mondou, A., Desgranges, B., Giry, C., Loisel, N., Eustache, F., Viader, F. & Carluer, L. (2010). La sclérose latérale amyotrophique : au-delà de l’atteinte motrice. Revue de neuropsychologie, 2, 283-291. https://doi.org/10.3917/rne.024.0283
Belingher, C. (2008). « L’autre maladie de Charcot » : l’approche du psychologue. Le Journal des psychologues, 255, 68-71. https://doi.org/10.3917/jdp.255.0068
Miller, T. M., Cudkowicz, M. E., Genge, A., Shaw, P. J., Sobue, G., Bucelli, R. C., … & Fradette, S. (2022). Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS. New England Journal of Medicine, 387(12), 1099-1110.
Biogen & Esai Labs, 2022 : https://investors.biogen.com/news-releases/news-release-details/lecanemab-confirmatory-phase-3-clarity-ad-study-met-primary