Designing an operating theatre for awake procedures: A solution to improve multimodality information input.

OBJECTIVE: Many neurosurgical procedures are now performed with the patient aware in order to allow interactions between the patient and healthcare professionals. These procedures include awake brain surgery and spinal cord stimulation (SCS), lead placement for treatment of refractory chronic back and leg pain. Neurosurgical procedures under local anaesthesia require optimal intraoperative cooperation of the patient and all personnel involved in surgery. In addition to accommodating this extra source of intraoperative information all other necessary sources of data relevant to the procedure must be presented. The concept of an operating room dedicated to neurosurgical procedures performed aware and accommodating these concepts is presented, and some evidence for improvements in outcome presented, deriving from a series of patients implanted with spinal cord stimulators before and after the operating theatre was brought into service. RESULTS AND DISCUSSION: In addition to the description, two videos demonstrate the facility online. Beyond this qualitative evidence, quantitative improvement in patient outcome is evidenced by the series presented: 91.3% of patients operated in the awake anaesthesia-dedicated theatre obtained adequate low back pain coverage, versus 60.0% for patients operated before (p = 0.028). CONCLUSION: The concept of such an operating room is a step in improving the outcome by improving the presentation of all types of information to the operating room staff most notably in the example of aware procedures.

Lexical priming in Alzheimer's disease and aphasia.

Lexical priming was examined in patients with Alzheimer's disease and in aphasic patients. Control participants were divided into young and elderly [cf. Arroyo-Anlló et al.: Eur J Cogn Psychol 2004;16:535-553]. For lexical priming, a word-stem completion task was used. Normal elderly participants had lexical priming scores that were significantly lower than those of young individuals. Analysis of covariance with age and educational level as covariates showed that the control participants, aphasic and Alzheimer patients did not differ significantly on the lexical priming task. Our results suggest that performance in the lexical priming task diminishes with physiological aging, but is not significantly affected by mild or moderate Alzheimer's disease or by fluent or non-fluent aphasia.

[Proceeding memory in Alzheimer's disease]. / Memoria procedimental en pacientes con enfermedad de Alzheimer.

Procedural learning can acquire or develop skills through performance and repetition of a task unconsciously or unintentionally. Procedural skills are considered as the cornerstone in the neuropsychological rehabilitation to promote the autonomy of patients with brain damage, as those with Alzheimer's disease. This review presents data about procedural skills in Alzheimer's disease. Over the past three decades, we have found 40 articles studying various procedural skills in the Alzheimer's disease: motor, perceptual-motor, cognitive, perceptual-cognitive and those developed through serial reaction-time paradigm. We analyzed every study evaluating a procedural skill, indicating the used task and preservation or no preservation of procedural learning. Overall, most of the papers published describe conservation of learning procedures or relatively conserved in Alzheimer's disease, which could be used to promote patient autonomy.

El aprendizaje procedimental permite adquirir o desarrollar habilidades mediante la ejecución y repetición de una tarea de manera no consciente o no intencional. Las habilidades procedimentales están siendo consideradas ejes centrales en la rehabilitación neuropsicológica para fomentar la autonomía de los pacientes con daño cerebral. En este artículo se hace una revisión del estado actual de las investigaciones que analizan los aprendizajes procedimentales en la enfermedad de Alzheimer. De las últimas tres décadas se identificaron 40 investigaciones relativas a las habilidades procedimentales en la enfermedad de Alzheimer: motoras, perceptivo-motoras, cognitivas, perceptivo-cognitivas y las desarrolladas mediante el paradigma del tiempo de reacción serial. En cada una se han analizado los estudios que evalúan la habilidad, el tipo de tarea utilizada y los resultados que reflejan la preservación o el deterioro del aprendizaje procedimental. Los aprendizajes procedimentales preservados o relativamente preservados en los pacientes con enfermedad de Alzheimer podrían ser utilizados para fomentar la autonomía de estos.

A Crossed Pure Agraphia by Graphemic Buffer Impairment following Right Orbito-Frontal Glioma Resection.

Pure agraphias are caused by graphemic buffer damage. The graphemic buffer stores graphemic representations that handle the transition from spelling lexicon to writing or oral spellings. The authors report a case of a crossed pure agraphia, following the post-surgical removal of a right frontal low-grade glioma in a right-handed French patient. He presented a pure agraphia displaying the features of a graphemic buffer impairment. Our patient only made spelling errors, whereas repetition and other oral language abilities remained perfect. We found a greater number of errors for longer stimuli, increased errors for the medially located graphemes, and agraphia for both words and non-words and error types, essentially consisting of omissions, substitutions, and letter transpositions. We also observed no significant effect of word frequency on spelling errors, but word length affected the rate of errors. The particularity of this case was linked to right frontal subcortical injuries in a right-handed subject. To our knowledge, it is the first report of a crossed pure agraphia caused by graphemic buffer impairment. Further studies are needed in order to analyse the role of subcortical structures, particularly the caudate nucleus in the graphemic buffer during writing tasks, as well as the participation of the non-dominant hemisphere in writing language.

The validation of a French-language version of the Aging Perceptions Questionnaire (APQ) and its extension to a population aged 55 and over.

BACKGROUND: Several studies have shown the influence of the perceptions of aging on the cognitive functioning and the mental and physical health of older people. These relationships have not to date been studied in France where validated instruments are lacking. The primary objective of this study was to validate a French-language version of the Aging Perceptions Questionnaire (APQ) in the French general population aged 65 and over. The secondary objective was to study the stability of the dimensions of this instrument among participants aged 55 to 64. METHODS: The study was proposed to the cohort of the Observatoire Régional du Vieillissement (OPREVI) (observatory of aging), located in a small town in Poitou-Charentes (western France). An anonymous questionnaire including the APQ was sent by mail to inhabitants aged 55 and over. The original English language APQ was described with adults aged 65 and older. It has 32 items distributed on 7 dimensions: timeline chronic and cyclical, positive and negative consequences, positive and negative control and emotional representations. RESULTS: 656 adults participated in this survey (286 men, 370 women). Among those aged 65 and over (n = 94), the seven-factor structure estimated by confirmatory factor analysis was coherent with original findings. Internal consistency as evaluated by Cronbach alpha, was between 0.83 for consequences negative and 0.52 for control negative. Several dimensions were strongly correlated. Among participants aged 55 to 64 (n = 262), the same factorial model yielded an acceptable fit. Multi-group confirmatory factor analysis concluded to approximate factorial invariance between the two age groups with a null delta in comparative fit index. CONCLUSION: This study among French people aged 65 and over, added further evidence of the multidimensional structure of the French version of the APQ which is superimposed to the dimensions of the original Irish version. The same factorial structure applies acceptably to the younger group (aged 55-64). The OPREVI study is ongoing, and will collect data on the physical, material and social characteristics of participants. It will therefore be possible to analyse the variables associated with the perceptions of aging. On the basis of an individual's perceptions of aging as captured by this questionnaire, and his or her clinical profile, tailored multi-dimensional assistance could be made available aiming to provide incentives to anticipate or to adapt to difficulties.

The relationship to the face: from the normal subject to the Alzheimer patient, from the naked face to the masked face, from a humanistic neuropsychology to an embodied ethics / La relation au visage : du sujet normal au malade Alzheimer, du visage nu au visage masqué, d'une neuropsychologie humaniste à une éthique incarnée

The relationship to the face weaves close links with identity and otherness. It is not just a means of inter-human knowledge; it is also a major means of self/other communication underpinned by those mentalization networks that open up the attribution of intentions and emotions to others (theory of mind) as well as that particular disposition known as empathy, which enables us to put ourselves in another person's shoes by feeling and understanding what they are experiencing while remaining ourselves. Neuropsychology attempts to shed light on the brain processes that underlie this encounter with the face and that may be altered by neurodegenerative diseases, and in particular by Alzheimer's disease. The pandemic period also leads us to examine the clinical consequences of wearing a mask both in normal subjects and in subjects suffering from diseases that affect the relationship with the face of others. A humanistic neuropsychology must integrate an embodied ethics that attempts to discern what, in the perception of the Other, contributes to hindering the expression of otherness, which is inseparable from the human condition. In the pandemic context linked to Covid-19, neuropsychology with its clinical requirements and ethics with its performative aim on care practices, can thus cross-fertilize each other to propose compromises that are certainly attentive to public health but also to the well-being of each human being, especially the most vulnerable.

La relation au visage tisse des liens étroits avec l'identité et avec l'altérité. Elle n'est pas qu'un dispositif de connaissance interhumaine ; elle est aussi un dispositif majeur de la communication soi-autrui sous-tendue par ces réseaux de mentalisation qui ouvrent à l'attribution à autrui d'intentions et d'émotions (théorie de l'esprit) comme à cette disposition particulière qu'est l'empathie, qui permet de se mettre à la place d'autrui en ressentant et en comprenant ce qu'il éprouve tout en restant soi. La neuropsychologie tente d'éclairer les processus cérébraux qui sous-tendent cette rencontre du visage et qui peuvent être altérés par les maladies neurodégénératives, et en particulier par la maladie d'Alzheimer. La période pandémique conduit aussi à s'interroger sur les conséquences cliniques du port du masque tant chez les sujets normaux que chez les sujets atteints de maladies qui affecte la relation au visage d'autrui. Une neuropsychologie humaniste doit intégrer une éthique incarnée qui tente de discerner ce qui, dans la perception d'autrui, contribue à entraver l'expression de l'altérité, indissociable de la condition humaine. Dans le contexte pandémique lié à la Covid-19, la neuropsychologie, avec ses exigences cliniques, et l'éthique, avec sa visée performative sur les pratiques de soins, peuvent ainsi se féconder mutuellement pour proposer des compromis attentifs certes à la santé publique mais aussi au bien-être de chaque être humain et notamment des plus vulnérables.

The relationship between insight and uncertainty in obsessive-compulsive disorder.

BACKGROUND: The aim of this study was to investigate the relationship between the levels of insight and checking-related uncertainty in patients with obsessive-compulsive disorder (OCD). SAMPLING AND METHODS: Twenty OCD patients with checking compulsions and without current comorbidity were recruited. We used an experimental paradigm that gave subjects the opportunity to check during a decision-making task, thereby allowing for the calculation of a response time index (RTI) as the 'uncertainty cost' during decision-making. The level of insight was assessed with the Brown Assessment of Beliefs Scale (BABS). RESULTS: Regression analyses indicated a significant positive correlation between RTI and BABS scores (r = 0.49). CONCLUSIONS: The level of insight is related to cognitive characteristics underlying OCD symptoms, in particular, checking-related uncertainty in checking OCD patients. STUDY LIMITATIONS: The absence of a comparison group and the low number of included patients are the main limitations of the present study.

Alzheimer's Disease and Face Masks in Times of COVID-19.

Generalized lockdown caused by COVID-19, necessary yesterday, can no longer be that of tomorrow. It will no longer be possible to cram the humblest into cramped areas, but priority must be given to prevention (certainly with physical barriers, hydro-alcoholic gel, face masks), biological diagnosis, isolation, and also the care of any infected person. COVID-19 has hit the most vulnerable first in terms of biological inequality, such as Alzheimer's disease (AD) patients. Those with AD can have sensorial deficits and perception troubles, including visual difficulties and the inability to recognize faces and emotions. Face masks and physical distancing can disrupt facial familiarity and make it more difficult to recognize emotional facial expressions. It can provoke distress, which the visitor can perceive and feel obligated to take off the face mask. This gesture should not be considered as an act of indiscipline, but an act of empathy. Transparent face masks could improve the suffering of AD patients, distraught in the presence of their loved ones whose masks hide their faces. Wearing a mask should not be due to fear of punishment, but as an understanding of the responsibility of each individual in the control of the current pandemic. It may be necessary to convince more citizens of this civic duty, using clear and attractive messaging in order to standardize the wearing of face masks for the general public and to adapt them to the needs of patients.

Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.

Dopa-responsive dystonia is a childhood-onset dystonic disorder, characterized by a dramatic response to low dose of L-Dopa. Dopa-responsive dystonia is mostly caused by autosomal dominant mutations in the GCH1 gene (GTP cyclohydrolase1) and more rarely by autosomal recessive mutations in the TH (tyrosine hydroxylase) or SPR (sepiapterin reductase) genes. In addition, mutations in the PARK2 gene (parkin) which causes autosomal recessive juvenile parkinsonism may present as Dopa-responsive dystonia. In order to evaluate the relative frequency of the mutations in these genes, but also in the genes involved in the biosynthesis and recycling of BH4, and to evaluate the associated clinical spectrum, we have studied a large series of index patients (n = 64) with Dopa-responsive dystonia, in whom dystonia improved by at least 50% after L-Dopa treatment. Fifty seven of these patients were classified as pure Dopa-responsive dystonia and seven as Dopa-responsive dystonia-plus syndromes. All patients were screened for point mutations and large rearrangements in the GCH1 gene, followed by sequencing of the TH and SPR genes, then PTS (pyruvoyl tetrahydropterin synthase), PCBD (pterin-4a-carbinolamine dehydratase), QDPR (dihydropteridin reductase) and PARK2 (parkin) genes. We identified 34 different heterozygous point mutations in 40 patients, and six different large deletions in seven patients in the GCH1 gene. Except for one patient with mental retardation and a large deletion of 2.3 Mb encompassing 10 genes, all patients had stereotyped clinical features, characterized by pure Dopa-responsive dystonia with onset in the lower limbs and an excellent response to low doses of L-Dopa. Dystonia started in the first decade of life in 40 patients (85%) and before the age of 1 year in one patient (2.2%). Three of the 17 negative GCH1 patients had mutations in the TH gene, two in the SPR gene and one in the PARK2 gene. No mutations in the three genes involved in the biosynthesis and recycling of BH4 were identified. The clinical presentations of patients with mutations in TH and SPR genes were strikingly more complex, characterized by mental retardation, oculogyric crises and parkinsonism and they were all classified as Dopa-responsive dystonia-plus syndromes. Patient with mutation in the PARK2 gene had Dopa-responsive dystonia with a good improvement with L-Dopa, similar to Dopa-responsive dystonia secondary to GCH1 mutations. Although the yield of mutations exceeds 80% in pure Dopa-responsive dystonia and Dopa-responsive dystonia-plus syndromes groups, the genes involved are clearly different: GCH1 in the former and TH and SPR in the later.

Could Self-Consciousness Be Enhanced in Alzheimer's Disease? An Approach from Emotional Sensorial Stimulation.

Alzheimer's disease (AD) provides a valuable field of research into impairment of self-consciousness (SC), because AD patients have a reduced capacity to understand their mental world, to experience and relive previous personal events, as well as to interpret thoughts, feelings, and beliefs about themselves. Several studies observed that AD patients had an altered SC, but not a complete abolition of it. Emotions are an integral part of the construction of personal identity, therefore of Self. In general, most studies on emotion in AD patients have observed that emotion is not completely abolished and it lets them better remember autobiographical events with greater emotional charge. The positive effect of autobiographical memories rich in emotional content, evoked directly/automatically by sensorial stimuli such as familiar odors or music, could be used to reestablish/reinforce the permanence and coherence of the Self in AD. We studied the research of empirical evidence supporting the power of the sensorial cues associated with emotion, which could be capable of enhancing the SC in AD. We presented the studies about "Emotional stimulations" using odor, music, or taste cues in AD. All studies have shown to have a positive impact on SC in AD patients such as odor-evoked autobiographical memories, taste/odor-evoked autobiographical memories, emotional sensorial stimulation using musical cues, and multi-sensorial stimulations using healing gardens. We found research supporting the notion that emotional sensorial stimulations can even temporarily exalt memory, affective state, and personal identity, that is, the SC in AD. The emotional sensory stimulations could be used as a tool to activate the SC in AD and hence improve the quality of life of patients and caregivers.

Alexithymia in Alzheimer's Disease.

Alexithymia is widely recognized as the inability to identify and express emotions. It is a construct which consists of four cognitive traits such as difficulty in identifying feelings, describing feelings to others, externally oriented thinking, and limited imaginative capacity. Several studies have linked alexithymia to cognitive functioning, observing greater alexithymia scores associated with poorer cognitive abilities. Despite Alzheimer's disease (AD) being a neurodegenerative pathology characterized by cognitive troubles from the early stages, associated to behavioral and emotional disturbances, very few investigations have studied the alexithymia in AD. These studies have shown that alexithymia scores-assessed with Toronto Alexithymia Scale (TAS)-were greater in AD patients than healthy participants. The objective of the study was to investigate if the alexithymia was present in patients with mild AD. We hypothesized that the AD group would show more alexithymia features than the control group. We evaluated 54 subjects, including 27 patients diagnosed with mild AD and 27 normal healthy controls, using the Shalling Sifneos Psychosomatic Scale (SSPS-R) and a neuropsychological test battery. Using non-parametric statistical analyses-Wilcoxon and Mann-Whitney U tests-we observed that the SSPS-R scores were similar in the AD and control groups. All participants showed SSPS-R scores below to 10 points, which means no-alexithymia. We did not find significant correlations between SSPS-R scores and cognitive variables in both groups (p > 0.22), but we observed a negative association between name abilities and alexithymia, but it does not reach to significance (p = 0.07). However, a significant correlation between SSPS-R score and mood state, assessed using Zerssen Rating Scale, was found in both groups (p = 0.01). Because we did not find a significant difference in the alexithymia assessment between both subject groups, pot hoc analyses were computed for each item of the SSPS-R. We made comparisons of alexithymic responses percentages in each SSPS-R item between AD and control groups, using Fisher's test. We observed that AD patients produced more alexithymic responses in some items of SSPS-R test than the control group, particularly about difficulties to find the words to describe feelings, as well as difficulties of imagination capacity and externally oriented thinking. The present results do not confirm our hypothesis and they do not support the results of previous studies revealing great alexithymia in AD.

Procedural Learning Improves Cognition in Multiple Sclerosis.

BACKGROUND: Multiple sclerosis (MS) is considered a neurodegenerative disease and an inflammatory demyelinating neuropathology in young population. Procedural memory has been poorly investigated in MS. OBJECTIVE: We assessed whether the MS group was able to develop a motor-cognitive skill, using a procedural task (PLSC) developed in our laboratory, applying a manual and serial reaction time (RT) paradigm to semantic categorization. METHODS: We evaluated 26 MS patients and 26 socio-demographic matched control participants using the PLSC task. RESULTS: Using non-parametric statistical analyses, we observed a significant improvement of semantic categorization RTs with practice (p = 0.002), even with new verbal material to categorize in MS patients (p = 0.006), despite their motor and executive moderate deficits. This same profile of semantic procedural learning in MS was observed in previous studies carried out with Alzheimer's and Parkinson's diseases. Moreover, the visual-motor RTs remained stable or slightly improved over the five blocks in both groups, as well as in the AD groups of previous studies. The MS group showed longer visual-motor reaction times than those of the control group (p < 0.042), except in motor initiation aspect (p = 0.064). Both groups showed no significant differences for any type of error. Additionally, disability level and cognitive performances were not associated with the ratio of semantic procedural learning. CONCLUSION: The present results support the notion that MS patients may be capable of acquiring semantic skill, despite their motor disabilities and executive troubles. This work also addresses the possibilities to improve motor-cognitive skill RTs in neurodegenerative diseases.

Impact of a Healing Garden on Self-Consciousness in Patients with Advanced Alzheimer's Disease: An Exploratory Study1.

BACKGROUND: The environment of patients with Alzheimer's disease and related disorders (ADRD) intensifies the consequences of cognitive impairment and exacerbates behavioral problems if inappropriate or, conversely, mitigate these problems if its design is tailored to the needs of these persons. OBJECTIVE: We evaluate the impacts of hospitalization and of a specific healing garden on self-consciousness which represent a central impairment in ADRD. The self-consciousness questionnaire (SCQ), validated for its assessment at mild to moderate phases of the disease, explores the dimensions of personal identity, awareness of cognitive deficiencies, self-assessment of affective state, awareness of body representation, prospective memory, capacity for introspection, and moral judgments. METHODS: After having verified, by means of a preliminary study, its feasibility to the more advanced stages of the disease, this questionnaire allowed assessment of the impact of the environment by comparing, in routine care, patients hospitalized in a cognitive-behavioral unit who solely remain indoors with others who use the Art, Memory and Life healing garden. RESULTS: A significant decrease in SCQ due to an increase in anosognosia during hospitalization was observed in the group that remained indoors. For the group using the garden, a positive effect on overall SCQ score was observed, as a result of a significant improvement in body representation as the driving parameter. CONCLUSION: Factors that are grounded in the hypotheses that spearheaded its conception, such as sensory enrichment, familiarity, contact with nature, scaffolding role for cognitive functions, supportive effect for social interactions, and the "Nancy hypotheses of beauty", thus contribute to their validation.

PKR, a cognitive decline biomarker, can regulate translation via two consecutive molecular targets p53 and Redd1 in lymphocytes of AD patients.

In Alzheimer's disease (AD), the control of translation is dysregulated, precisely, two opposite pathways: double-stranded RNA-dependent protein kinase (PKR) is up-regulated and mammalian target of rapamycin (mTOR) is down-regulated. These biochemical alterations were found at the periphery in lymphocytes of AD patients and were significantly correlated with cognitive and memory test scores. However, the molecular crosslink between these two opposite signalling pathways remains unknown. The tumour suppressor p53 and Redd1 (regulated in development and DNA damage response) could be two downstream targets of active PKR to explain the breakdown of translation in AD patients. In this study, the protein and gene levels of p53 and Redd1 were assayed in lymphocytes of AD patients and in age-matched controls by Western blotting and RT-PCR. Furthermore, correlations were analysed with both the level of active PKR and the Mini Mental State Examination score (MMSE). The results show that the gene and protein levels of p53 and Redd1 were significantly increased about 1.5-fold for both gene and Redd1 protein and 2.3-fold for active p53 in AD lymphocytes compared to age-matched controls. Furthermore, statistical correlations between proteins and genes suggest that active PKR could phosphorylate p53 which could induce the transcription of Redd1 gene. No correlations were found between MMSE scores and levels of p53 or Redd1, contrary to active PKR levels. PKR represents a cognitive decline biomarker able to dysregulate translation via two consecutive targets p53 and Redd1 in AD lymphocytes.

Evidence of molecular links between PKR and mTOR signalling pathways in Abeta neurotoxicity: role of p53, Redd1 and TSC2.

The control of translation is disturbed in Alzheimer's disease (AD). This study analysed the crosslink between the up regulation of double-stranded RNA-dependent-protein kinase (PKR) and the down regulation of mammalian target of rapamycin (mTOR) signalling pathways via p53, the protein Regulated in the Development and DNA damage response 1 (Redd1) and the tuberous sclerosis complex (TSC2) factors in two beta-amyloid peptide (Abeta) neurotoxicity models. In SH-SY5Y cells, Abeta42 induced an increase of P(T451)-PKR and of the ratio p66/(p66+p53) in nuclei and a physical interaction between these proteins. Redd1 gene levels increased and P(T1462)-TSC2 decreased. These disturbances were earlier in rat primary neurons with nuclear co-localization of Redd1 and PKR. The PKR gene silencing in SH-SY5Y cells prevented these alterations. p53, Redd1 and TSC2 could represent the molecular links between PKR and mTOR in Abeta neurotoxicity. PKR could be a critical target in a therapeutic program of AD.

Music and emotion in Alzheimer's disease.

BACKGROUND: Alzheimer's disease may compromise several musical competences, though no clear data is available in the scientific literature. Furthermore, music is capable of communicating basic emotions, but little is known about the emotional aspect of music in patients with Alzheimer's disease. We present a systematic investigation of music processing in relation to extra-musical skills, in particular emotional skills in patients with Alzheimer's disease. METHODS: We tested 30 patients with mild or moderate Alzheimer's disease and 30 control subjects. We essentially evaluated (a) musical competences, using the extra-linguistic test, Solfeggio test and the recognition test of musical emotions-elaborated by our research team-and the Seashore test, and (b) emotional capacities using emotional memory and emotional prosody tests-made by our research group. RESULTS: We significantly observed lower total results of every test assessing cognitive, emotional and music competences in Alzheimer's disease patients than those in control subjects, but the score of musical emotion recognition test did not reach to a significant difference between the subjects groups. CONCLUSIONS: Our findings found a global impairment of music competences in Alzheimer patients with cognitive and emotional troubles. Nevertheless, the performances in the recognition test of musical emotions showed a trend towards a performance difference. We can suggest that Alzheimer's disease currently presents an aphaso-agnoso-apractic-amusia syndrome.

The ovarioleukodystrophy.

The "ovarioleukodystrophies" comprise a group of rare leukodystrophies associated with primary or premature ovarian failure. Some of the patients have a variant of "vanishing white matter disease" with mutations in subunits of eukaryotic initiation factor 2B (EIF2B). A 32-year-old woman who developed neurological signs related to an extensive leukoencephalopathy on magnetic resonance imaging (MRI) in the context of amenorrhea since the age of 18 years was found to be homozygous for a mutation in the EIF2B5 gene: c.338G>A/p.Arg113His. She had a progressive disease with development of tetraparesia in less than 6 years. Our observation confirms that ovarian failure in the context of a leukodystrophy warrants mutational analysis of the genes encoding the subunits of EIF2B.

Positive perception of aging is a key predictor of quality-of-life in aging people.

OBJECTIVE: We conducted a cross-sectional survey in France in a cohort over 55 years of age to characterize the impact of psychological dimensions on quality-of-life (QoL). METHODS: The predictors of QoL in relation with aging were studied using an adapted quality-of-life model, based on emotional, cognitive and physical symptoms, functional status, and general health perception. Adding psychological dimensions such as self-esteem, psychological distress, perceptions of ageing and coping, was hypothesized to improve the QoL model. Responses were analyzed using structural equation modeling and path analysis. RESULTS: The study involved 258 participants, mean age 66.9±7.9 years. Psychological distress and positive perception of aging exhibited the strongest direct impact on QoL (p<0.0001). Psychological distress also appeared to be mediator on QoL for perceived health status, self-esteem and negative perception of aging. Coping centred on emotion exhibited direct impact on self-esteem and so, indirect impact on QoL (p = 0.0002). Perception of personal financial situation (p = 0.0007) and coping centred on social support (p = 0.02) appeared as direct mediators influencing QoL. CONCLUSIONS: Psychological dimensions are predictors of QOL and have to be taken into account to maximize the resources with a view to successful aging. Further interventions targeting successful aging should focus on positive perception aging.

Abnormal retinal thickness in patients with mild cognitive impairment and Alzheimer's disease.

In Alzheimer's disease (AD), brain lesions are marked by severe neuronal loss and retinal degeneration was previously mentioned in affected patients. Mild cognitive impairment (MCI) is a clinical syndrome that could be an early phase of AD. In this study, using optical coherence tomography (OCT), the retinal nerve fiber layer (RNFL) thickness was assessed in patients with mild AD, moderate to severe AD, amnestic MCI and control subjects. The results show that RNFL thickness is statistically reduced in patients with MCI, mild AD or moderate to severe AD compared to controls. In addition, no statistical difference was found between the results in MCI patients and mild AD patients. The RNFL seems to be involved early during the course of amnestic MCI and OCT tests could be carried out in patients with cognitive troubles.

[Self-consciousness, consciousness of the other and dementias]. / Conscience de Soi, conscience de l'Autre et démences.

Studies of self-consciousness in dementia concern essentially anosognosia or the loss of insight. However, Self-consciousness is multifaceted: it includes awareness of the body, perceptions, one's own history, identity, and one's own projects. Self-consciousness is linked to consciousness of others i.e. to social cognition supported by identification of others, but also by comprehension of facial expression of emotions, comprehension and expression of emotional prosody, pragmatic abilities, ability to infer other's people's mental states, thoughts, and feelings (theory of mind and empathy), knowledge of social norms and rules, social reasoning. The subtypes of dementias (and namely Alzheimer's disease and frontotemporal dementia) affect heterogeneously the different aspects of the self-and other-consciousness. Further studies are needed for a better knowledge of the complex relationship between Self-consciousness, social cognition, decision making and neuropsychiatric symptoms and behavioral disturbances occurring in demented patients.