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Depuis le mois de mars 2020, nous vivons une crise sanitaire qui a conduit a une transformation profonde de nos pratiques professionnelles. Cet article, ecrit a plusieurs mains, a comme objectif de rendre compte de l’essentiel de notre experience de psychologues au sein d’une cellule d’aide psychologique creee pour soutenir les patients concernes par des maladies neuromusculaires et leur famille. La question principale qui est abordee ici est celle de savoir comment composer dans nos pratiques cliniques avec les aleas de la realite et le reel du trauma.

Le defibrillateur automatique implantable (DAI) a pour but de permette une perspective de vie dans le cadre d’une maladie a haut risque cardiologique. La presence d’un DAI conduit a des metamorphoses subjectives complexes qui demandent au sujet de se reapproprier son desir de vivre tout en renoncant au sentiment d’immortalite. Le present article tente de degager quelques enjeux specifiques qu’inaugure la pose d’un DAI a savoir qu’il s’inscrit comme revelateur de notre vulnerabilite, venant modifier le refoulement de la conscience de la mort ; et dans un second temps comment celui-ci peut amener le sujet a transcender cette conscience de la mort, re-ouvrant des perspectives de vie.

Disposer de médicaments innovants pour soigner les maladies neuromusculaires marque incontestablement un tournant historique. Ce bond en avant scientifique suscite bien des interrogations éthiques, qu’elles concernent la prise en charge des patients, la participation aux essais cliniques ou encore le dépistage néonatal. Autant de pistes de réflexion ouvertes, en trois questions.

Predictive genetic testing (PGT) is offered to asymptomatic relatives at risk of hereditary heart disease, but the impact of result disclosure has been little studied. We evaluated the psychosocial impacts of PGT in hereditary heart disease, using self-report questionnaires (including the State-Trait Anxiety Inventory) in 517 adults, administered three times to the prospective cohort (PCo: n = 264) and once to the retrospective cohort (RCo: n = 253). The main motivations for undergoing PGT were &ldquo, to remove doubt&rdquo, and &ldquo, for their children&rdquo, The level of anxiety increased between pre-test and result appointments (p &lt, 0.0001), returned to baseline after the result (PCo), and was moderately elevated at 4.4 years (RCo). Subjects with a history of depression or with high baseline anxiety were more likely to develop anxiety after PGT result (p = 0.004 and p &lt, 0.0001, respectively), whatever it was. Unfavourable changes in professional and/or family life were observed in 12.4% (PCo) and 18.7% (RCo) of subjects. Few regrets about PGT were expressed (0.8% RCo, 2.3% PCo). Medical benefit was not the main motivation, which emphasises the role of pre/post-test counselling. When PGT was performed by expert teams, the negative impact was modest, but careful management is required in specific categories of subjects, whatever the genetic test result.

Glycogen storage disease type III (GSDIII) is a rare autosomal recessive disorder due to glycogen debranching enzyme (GDE) deficiency. It results in a multisystemic disease with predominant hepatic and myopathic symptoms. While frequent social maladjustment has been observed in our clinical practice, cognitive and psychological disturbances have never been assessed. The aim of this pilot study was to examine and characterize the cognitive profile of patients with GSDIII. Seven patients (six women and one man, mean age: 38.7 ± 11.6 years) with GSDIII underwent a neuropsychological set of tests assessing global cognitive efficiency, executive functions, social cognition, apathy, and episodic memory. All patients presented previous psychopathological history. We observed attention fluctuations for each patient, and impaired global cognitive efficiency with deficiencies in executive functions in 5/7 patients. Emotional skills (social cognition) were impaired in five patients. Memory was mostly preserved. The impairment in social cognition (recognition of emotions and ability to attribute mental states to others) and executive functions observed could be a consequence of orbito-frontal dysfunction due to the abnormal glycogen metabolism characteristic of the underlying disease. These results are consistent with the hypothesis of a central nervous system involvement in patients with GSDIII, but need to be confirmed in future research. This could explain the social and economic difficulties, and the lack of compliance to the medical follow-up presented by these patients. It suggests that these disturbances need to be taken into account when planning the medical management of patients with GSDIII.

Aim This study aimed to gain a better understanding of the psychological impact of participating in a clinical trial for patients with Pompe disease (Acid Maltase Deficiency). Attitudes and expectations of adult patients with neuromuscular diseases regarding medical trials are as yet unreported. In order to learn about the psychological consequences of participating in a clinical trial, we conducted a prospective assessment of patients with late-onset Pompe Disease, a rare genetic condition, for which no treatment had been available before. This psychological study was carried out as an ancillary study to the randomized double-blind placebo-controlled trial described elsewhere ( van der Ploeg et al., 2010 ). Subjects and methods We assessed patients ( n = 8) at inclusion, and at 12 and 18 months for six psychological dimensions: depression (Beck Depression Inventory, BDI), hopelessness (Beck Hopelessness Scale, BHS), anxiety (STAI A-B), quality of life (Whoqol-26), social adjustment (S.A.S-self-report) and locus of control (IPC Levenson). We produced a self-administered questionnaire in order to assess the attitudes, motivations and expectations of patients during the trial. Results At 12 months, mean social adjustment (SAS-SR, P = 0.02) had improved, and at 18 months mean depression score had improved as well (BDI, P = 0.03). The quality of life of patients (Whoqol-26) remained unchanged. Throughout the study, patients were more likely to have an internal locus of control than an external one (IPC Levenson). The self-administered questionnaire showed that patients’ expectations were disproportionate compared to the medical information they had received starting the trial. For all patients, the first motivation for being enrolled in a clinical trial was “to help research”, for half of them the motivation was to “improve their health”. Whether patients believed to be part of one group or another (placebo or treatment) depended on their subjective perception of improvement during the trial. Conclusion Given the small sample size, the conclusions of this study are preliminary. However, findings do suggest that there is a positive psychological impact of participating in a treatment trial. Moreover, the patients’ reactions upon unblinding have led us to recommend that patients be asked whether they would like their group assignation disclosed to them or not.