Qualité de vie de la fratrie d’enfants atteints de mucoviscidose : le point de vue des parents et des enfants

Objectives

The impact of the presence of a child with cystic fibrosis in the family on the siblings is rarely studied. Moreover, the available empirical data are not clear. This study aims at evaluating the siblings’ quality of life according to the assessments performed by, on the one hand, the parents and, on the other hand, the brothers and/or the sisters of the sick child.

Methods

Thirty families took part in this study for which we used two instruments. The parents filled out the Child Behavior Checklist, which is a questionnaire intended to assess the behavioral and emotional problems of their nonsick children. The parents and their nonsick children filled out the Duke Health Profile which is a questionnaire intended to assess the quality of life in three fields: physical health, social health, and mental health.

Results

The parents and their nonsick children differently assess this quality of life. The parents tend to over-estimate the physical health of their nonsick children and to incorrectly evaluate the risks of suffering that are—differently—expressed by their sons and/or their daughters. In particular, while they correctly estimate the social health of their sons, they overestimate their mental health (p < 0.02). At the contrary, while their evaluations of their daughters’ mental health are quite well adjusted, they overestimate their social health (p < 0.03).

Conclusion

As most of the parents directly provide affective support and follow-up care for their child with cystic fibrosis, it remains necessary to more precisely specify how their perceptions of the health of the different members of the family fall under the family dynamics of adjustment to the disease. This conclusion goes for the research level as well as for the services for educational and psychological aid one.     

La psycho-oncologie de l'enfant et de l'adolescent : évolution des connaissances et des pratiques

Despite advances in medical treatment and constantly increasing survival rates, childhood cancer is still a psychological and existential challenge for young patients and their parents. Professionals have to take into account two core ideas concerning children and adolescents suffering from cancer: 1) - cancer is a life-threatening illness inducing emotional, cognitive and behavioural reactions; 2) the impact of the diagnosis of cancer in young patients depends on level of their psycho-affective development. The situation of these children and adolescents dealing with both the disease and its treatment should be managed in specialised units. Recent recommendations propose providing psychological and child psychiatric support and developing studies assessing the psychological impact on the young patients and their family.     

Diagnostic des dystrophies musculaires progressives des ceintures de type 2A ou calpaïnopathies : étude des patients du centre de référence des maladies neuromusculaires de Bordeaux (France)

Background

Limb girdle muscular dystrophies are rare genetic diseases. Despite constant progress in genetics and biochemistry, the pathogenic mechanisms are not completely understood. Calpainopathy (LGMD2A) has been reported to be the most frequent autosomal recessive form of muscular dystrophy in several populations. Point mutations in CAPN3 are difficult to identify and the analysis is long and costly. The use of western blot does not seem to provide the expected sensitivity and specificity.

Patients and method

We studied all the patients diagnosed in the neuromuscular center of Bordeaux (France) with confirmed calpainopathy in order to establish the appropriate diagnostic approach (inclusion criteria: muscular biopsy with calpain 3 western blot study, two mutations in CAPN3). Patients with highly suspected calpainopathy (same criteria with only one mutation) were also analyzed.

Results

Our 13 patients belonged to 10 different families. Four patients had a normal western blot for calpain (WBn). We found high phenotypic variability with frequent atypical signs. The WBn group had less severe disease (a statistically significant later age of onset, a tendency toward lower CK levels and a slower disease course). We extended this comparison to the single mutation patients and we found the same results.

Conclusion

Considering the lack of sensitivity of western blot protein analysis in LGMD2A, a normal western blot for calpain should not halt the genetic analysis. The western blot result seems to have prognostic value. A normal western blot may help genetic testing by highlighting some mutational hot spots in the CAPN3 gene.     

Vers des indicateurs de continuité des soins : suivi à deux ans de patients hospitalisés en 1999

The paper presents a two-year follow-up of the patients admitted in 1999 in three catchment areas (sectors). By comparing the group of patients who were new in 1999 (N = 321) to the group of those who were already treated (N = 498), the paper describes the type of care received by the patients in 1999, 2000 and 2001 according to age, gender, diagnosis, and type of care. The paper describes the probability of follow up according to the above data. The paper shows the value of a knowledge of the actual pathways of the patients within the psychiatric care organization.     

Actualité des premiers textes de Ferenczi

Ferenczi produced elaborations on the regression, the traumatism, the transference and counter transference which question deeply the practice of the cure. His first texts (1908-1912) ask still current clinical questions (on the status of the interpretation and on the place of the body and of the acting in the cures, on the status of the language) and open the way to the elaborations of other psychoanalysts. They will be used as a point of departure of our reflection.     

Pharmacothérapie des troubles de la personnalité

Drug treatment of personality disorders is less developed than are psychological treatments in this area, but they are a logical prolongation of psychobiological models of personality and temperament, and respond to the need of many clinicians in front of difficult patients. The results obtained in the field of pharmacotherapy of personality disorders can be classified according to DSM-IV axis-II categorization. In anxious personalities (cluster C), some isolated studies suggest a favourable effect of antidepressants on obsessive-compulsive dimension, on avoidant personality disorder, and on inhibition and trait-anxiety, especially when serotoninergic agents are used. Few studies have been conducted in cluster A personality disorders, and some are in favour of the interest of low doses of antipsychotic drugs in this group. Most studies have been conducted in cluster B, and especially in antisocial and borderline personality disorders. Partial positive results have been obtained using various classes of drugs for dealing with aggression and impulsive behaviors, including lithium, beta-blockers, carbamazepine, valproate, antipsychotic drugs, and also SSRIs. Self-harm and suicidal behaviors seem to be partially but significantly improved by antidepressants and low doses of antipsychotics. Overall, the pharmacotherapy of personality disorder may lead in the future to the development of effective treatments, in complement to psychotherapy, for actually severe, chronic, and disabling disorder.     

Revue des approches de segmentation des lésions de sclérose en plaques dans les séquences conventionnelles IRM

Different sets of criteria are currently used for the diagnosis of multiple sclerosis (MS). Some are based on clinical features, while others are related to imaging findings. Among the image processing systems, specific criteria include spatial dissemination of lesions in one image or their temporal dissemination in images acquired at different time points. In addition, the evolution of the lesion load can be used to evaluate treatment efficiency in MS clinical research. Consequently, obtaining a precise segmentation of the MS lesion appears to be crucial. In the literature, a number of semi-automated or completely automated approaches have been proposed enabling a reduction of the inter- and intra-expert variability for manual delineations. A comprehensive state-of-the-art classification of the most representative systems is presented here.     

Impact des déficits cognitifs dans les activités de la vie quotidienne des personnes souffrant de schizophrénie

It is now well-recognized that cognitive dysfonctions contribute to a decisive way to the difficulties of the everyday, social and professional life of the people with schizophrenia. The cognitive variables would explain between 16 and 30% of the variance in the functional status when assessed one to three and a half years later. However, the specificity of the complex relationships between the cognitive domains and the functional variables still remains to be identified. To this end, it is necessary to carry out studies by respecting various principles: selecting not multi-determined cognitive tasks; investigating specific daily-life tasks (e.g. shopping, choosing a menu, preparing a meal), in particular by an observation in real situation in order to identify the problematic components; this has to be made by determining a priori hypotheses regarding the cognitive nature of the difficulties; taking into account the heterogeneity of the cognitive deficits and the functional difficulties of people with schizophrenia. It also remains to investigate the presence of mediator variables of the relationships, such as the potential of learning, the social cognition, the metacognitive processes and the intrinsic motivation. Besides, other personal or environmental factors can also play a role in the functional status, as for example, the negative symptoms, the awareness that has the person of his(her) state and its consequences, or the critical attitude of relatives towards the person with schizophrenia.     

Un Cas de Sujet Nevrotique Presentant de Façon Alternée des Symptomes Somatiques et des Symptomes Psychiques en Cours de Psychotherapie

Nous avons noté avec intérêt à quatre reprises un phénomène d'alternation de symptômes somatiques et de symptômes psychiques au cours d'une psychothérapie chez une femme atteinte de maladie mentale qui a débuté avec des symptômes somatiques (nausée, vomissements, vertiges, émacitation, etc.). Nous avons noté de façon phénoménologique la forme d'apparition de ces symptbmes avec la forme d'apparition d'urticaire qui s'est manifesté pendant dix-huit ans avant I'entrée de la malade dans notre service. Nous avons essayé de saisir la signification de ce phéomène. Nous pensons que ces symptômes somatiques et ces symptômes psychiques ont un lien perpétuel avec I'histoire de la vie de la malade et nous considérons que le point de vue dualiste, à savoir soma et psyché, ne sert à rien. Le but de notre psychothérapie faite à partir de ce point de vue est de provoquer un retour à un dialogue avec des “paroles” naturelles et sincères à partir de paroles non-originelles qui exprimaient les symptômes de la malade. Nous avons essayé de libérer la malade de sa “captivité” dont l'origine est son sentiment d“amae” (tout comme ce qui Doi³⁴ dit) qui se trouve enraciné dans ce cas. Nous avons pu faire retrouver à la malade sa capacitté de réalisation du soi à partir de ses symptômes qui étaient considéréds comme un expression négative.     

Facteurs prédictifs de l’adaptation sociale des patients souffrant de schizophrénie

The past century saw multiple psychopharmacological advances in the treatment of schizophrenia. However, the social adaptation of patients is still quite poor. The authors therefore think it is necessary to develop specific therapies to limit the social handicap due to schizophrenia. In this aim, it is essential to obtain better knowledge of the predictive factors of social adaptation in schizophrenia. Indeed, if some of these factors cannot be changed, some respond to therapies which have been developed recently, such as psychosocial rehabilitation.     

Diagnostic moléculaire des formes axonales de la maladie de Charcot-Marie-Tooth

Charcot-Marie-Tooth (CMT) disease is the most common cause of inherited peripheral neuropathies with a frequency estimated at 1/2500. Electroneuromyographic examination distinguishes a myelinic form (CMT1) and an axonal form of the disease (CMT2). Significant genetic heterogeneity is found in CMT, with 15 genes or loci for CMT2. To date, a molecular diagnosis has not been established for most CMT2 patients and the distribution of identified mutations is wide spreading over nearly all genes. Simple guidelines for daily practice are difficult to establish from compilation of mutation reports or consultation of databases; little simplification can be expected from future findings. We present our results of molecular diagnosis for 251 CMT2 index cases characterized by their mode of inheritance (217 dominant and 34 recessive cases), and a motor conduction velocity in median nerve equal to or above to 38 m/s. For each case, at least one of the genes known to date for CMT2 (MFN2, RAB7, GARS, NF-L, HSPB1, GDAP1, MPZ, HSPB8, GJB1, DNM2, YARS, LMNA, and MED25) was studied. Around 22% of diagnoses were established and efficiency was comparable for dominant or recessive cases. For dominant cases, the first objective was to search for mutations of proteins connexin32, mitofusin2 and P0. For recessive cases, GDAP1 provided the key to molecular diagnosis; lamin A/C mutations were only found for patients with an ethnic background from North Africa. Heat shock proteins HSPB1 and HSPB8 were implicated in a significant proportion of “spinal” (or pure motor) CMT2. NF-L or RAB7 mutations were rare. We did not identify any deleterious mutations in GARS, DNM2, YARS orMED2. We propose a simple decision tree for molecular diagnosis of CMT2.     

Influence de l’insight sur l’efficacité de l’entretien motivationnel dans la prévention des rechutes chez des patients alcoolo-dépendants

Motivational interventions are effective in the treatment of alcoholism, especially in the early stages of the Prochaska and DiClemente model of change. In 62 alcohol dependent patients without cognitive disorders, in addition to treatment as usual, motivational interviewing effectiveness on relapse prevention was linked with the level of insight. We have retrieved a moderate effectiveness on relapse prevention in patients with poor insight and a significant adjunctive effectiveness in patients with good insight.