Maladie de Lyme, syndrome autistique et traitement antibiotique : une réflexion à partir d'un cas

International audienceFollowing an overview of the definition of autism and Lyme disease, a clinical case will be presented of a young subject (aged 14 years and a half) diagnosed with autism, and characterized by a typical development in the first year of life, followed by a general deterioration of abilities shortly after diagnosis of the onset of Lyme disease. The subject presented positive reactivity for Mycoplasma Pneumoniae. According to recent studies, misdiagnosis of initial symptoms of Lyme disease and delayed treatment can lead to persistent interactive coinfections in the organism which may result in chronic pathologies. Thus, a link could exist between a chronic infectionwith Mycoplasma Pneumoniae and an atypical symptomology similar to autism. So the hypothesis proposed is that there may be a correlation between Lyme disease and autism and that long-term antibiotic therapy may be an effective treatment. Following a clinical presentation of the history of this young patient, the evolution of the subject's symptomology and behavior during one year of antibiotic therapy will be described.A la suite d'un rappel de la définition de l'autisme infantile et de la maladie de Lyme, un cas clinique sera développé. Il s'agit d'un jeune patient avec autisme âgé de 14 ans et demi, caractérisé par un développement initial typique pendant sa première année puis par une dégradation générale de ses aptitudes peu après avoir été atteint de la maladie de Lyme. A la suite d'une présentation sous la forme d'une vignette clinique, nous aborderons l'évolution de la symptomatologie et du comportement de ce jeune pendant un an d'antibiothérapie. Cette présentation de cas permettra finalement d'interroger la définition de l'autisme, son étiologie et la validité du diagnostic établi initialement pour ce patient

Frequency of infant stroking reported by mothers moderates the effect of prenatal depression on infant behavioural and physiological outcomes

Animal studies find that prenatal stress is associated with increased physiological and emotional reactivity later in life, mediated via fetal programming of the HPA axis through decreased glucocorticoid receptor (GR) gene expression. Post-natal behaviours, notably licking and grooming in rats, cause decreased behavioural indices of fear and reduced HPA axis reactivity mediated via increased GR gene expression. Post-natal maternal behaviours may therefore be expected to modify prenatal effects, but this has not previously been examined in humans. We examined whether, according to self-report, maternal stroking over the first weeks of life modified associations between prenatal depression and physiological and behavioral outcomes in infancy, hence mimicking effects of rodent licking and grooming. From a general population sample of 1233 first time mothers recruited at 20 weeks gestation we drew a stratified random sample of 316 for assessment at 32 weeks based on reported inter-partner psychological abuse, a risk to child development. Of these 271 provided data at 5, 9 and 29 weeks post delivery. Mothers reported how often they stroked their babies at 5 and 9 weeks. At 29 weeks vagal withdrawal to a stressor, a measure of physiological adaptability, and maternal reported negative emotionality were assessed. There was a significant interaction between prenatal depression and maternal stroking in the prediction of vagal reactivity to a stressor (p = .01), and maternal reports of infant anger proneness (p = .007) and fear (p = .043). Increasing maternal depression was associated with decreasing physiological adaptability, and with increasing negative emotionality, only in the presence of low maternal stroking. These initial findings in humans indicate that maternal stroking in infancy, as reported by mothers, has effects strongly resembling the effects of observed maternal behaviours in animals, pointing to future studies of the epigenetic, physiological and behavioral effects of maternal stroking

Gene × Environment interactions in autism spectrum disorders: role of epigenetic mechanisms.

To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files. This article is open access.Several studies support currently the hypothesis that autism etiology is based on a polygenic and epistatic model. However, despite advances in epidemiological, molecular and clinical genetics, the genetic risk factors remain difficult to identify, with the exception of a few chromosomal disorders and several single gene disorders associated with an increased risk for autism. Furthermore, several studies suggest a role of environmental factors in autism spectrum disorders (ASD). First, arguments for a genetic contribution to autism, based on updated family and twin studies, are examined. Second, a review of possible prenatal, perinatal, and postnatal environmental risk factors for ASD are presented. Then, the hypotheses are discussed concerning the underlying mechanisms related to a role of environmental factors in the development of ASD in association with genetic factors. In particular, epigenetics as a candidate biological mechanism for gene × environment interactions is considered and the possible role of epigenetic mechanisms reported in genetic disorders associated with ASD is discussed. Furthermore, the example of in utero exposure to valproate provides a good illustration of epigenetic mechanisms involved in ASD and innovative therapeutic strategies. Epigenetic remodeling by environmental factors opens new perspectives for a better understanding, prevention, and early therapeutic intervention of ASD

Autistic Disorder in Patients with Williams-Beuren Syndrome: A Reconsideration of the Williams-Beuren Syndrome Phenotype

Abstract Background: Williams-Beuren syndrome (WBS), a rare developmental disorder caused by deletion of contiguous genes at 7q11.23, has been characterized by strengths in socialization (overfriendliness) and communication (excessive talkativeness). WBS has been often considered as the polar opposite behavioral phenotype to autism. Our objective was to better understand the range of phenotypic expression in WBS and the relationship between WBS and autistic disorder

Towards a New Definition of Return-to-Work Outcomes in Common Mental Disorders from a Multi-Stakeholder Perspective

Objectives: To examine the perspectives of key stakeholders involved in the return-to-work (RTW) process regarding the definition of successful RTW outcome after sickness absence related to common mental disorders (CMD's). Methods: A mixed-method design was used: First, we used qualitative methods (focus groups, interviews) to identify a broad range of criteria important for the definition of successful RTW (N = 57). Criteria were grouped into content-related clusters. Second, we used a quantitative approach (online questionnaire) to identify, among a larger stakeholder sample (N = 178), the clusters and criteria most important for successful RTW. Results: A total of 11 clusters, consisting of 52 unique criteria, were identified. In defining successful RTW, supervisors and occupational physicians regarded "Sustainability'' and "At-work functioning" most important, while employees regarded "Sustainability," "Job satisfaction," "Work-home balance,'' and " Mental Functioning" most important. Despite agreement on the importance of certain criteria, considerable differences among stakeholders were observed. Conclusions: Key stakeholders vary in the aspects and criteria they regard as important when defining successful RTW after CMD-related sickness absence. Current definitions of RTW outcomes used in scientific research may not accurately reflect these key stakeholder perspectives. Future studies should be more aware of the perspective from which they aim to evaluate the effectiveness of a RTW intervention, and define their RTW outcomes accordingly

Argumentation et narration

À travers des contributions de diverses disciplines, cette enquête montre très concrètement que la puissance heuristique de la narration est un levier indispensable à toute pratique de l’argumentation. Elle montre aussi que si les deux registres concourent ensemble à une rationalité pleinement incarnée, ils ne se confondent jamais totalement

A Conceptual Framework for Healthy Eating Behavior in Ecuadorian Adolescents: A Qualitative Study

Objective: The objective of this study was to identify factors influencing eating behavior of Ecuadorian adolescents - from the perspective of parents, school staff and adolescents - to develop a conceptual framework for adolescents’ eating behavior. Study design: Twenty focus groups (N = 144 participants) were conducted separately with adolescents aged 11–15 y (n (focus groups) = 12, N (participants) = 80), parents (n = 4, N = 32) and school staff (n = 4, N = 32) in rural and urban Ecuador. A semi-structured questioning route was developed based on the ‘Attitude, Social influences and Self-efficacy’ model and the socio-ecological model to assess the relevance of behavioral and environmental factors in low- and middle-income countries. Two researchers independently analyzed verbatim transcripts for emerging themes, using deductive thematic content analysis. Data were analyzed using NVivo 8. Results: All groups recognized the importance of eating healthily and key individual factors in Ecuadorian adolescents’ food choices were: financial autonomy, food safety perceptions, lack of self-control, habit strength, taste preferences and perceived peer norms. Environmental factors included the poor nutritional quality of food and its easy access at school. In their home and family environment, time and convenience completed the picture as barriers to eating healthily. Participants acknowledged the impact of the changing socio-cultural environment on adolescents’ eating patterns. Availability of healthy food at home and financial constraints differed between settings and socio-economic groups. Conclusion: Our findings endorse the importance of investigating behavioral and environmental factors that influence and mediate healthy dietary behavior prior to intervention development. Several culture-specific factors emerged that were incorporated into a conceptual framework for developing health promotion interventions in Ecuador

Quality of Longer Term Mental Health Facilities in Europe: Validation of the Quality Indicator for Rehabilitative Care against Service Users’ Views

BACKGROUND: The Quality Indicator for Rehabilitative Care (QuIRC) is a staff rated, international toolkit that assesses care in longer term hospital and community based mental health facilities. The QuIRC was developed from review of the international literature, an international Delphi exercise with over 400 service users, practitioners, carers and advocates from ten European countries at different stages of deinstitutionalisation, and review of the care standards in these countries. It can be completed in under an hour by the facility manager and has robust content validity, acceptability and inter-rater reliability. In this study, we investigated the internal validity of the QuIRC. Our aim was to identify the QuIRC domains of care that independently predicted better service user experiences of care. METHOD: At least 20 units providing longer term care for adults with severe mental illness were recruited in each of ten European countries. Service users completed standardised measures of their experiences of care, quality of life, autonomy and the unit's therapeutic milieu. Unit managers completed the QuIRC. Multilevel modelling allowed analysis of associations between service user ratings as dependent variables with unit QuIRC domain ratings as independent variables. RESULTS: 1750/2495 (70%) users and the managers of 213 units from across ten European countries participated. QuIRC ratings were positively associated with service users' autonomy and experiences of care. Associations between QuIRC ratings and service users' ratings of their quality of life and the unit's therapeutic milieu were explained by service user characteristics (age, diagnosis and functioning). A hypothetical 10% increase in QuIRC rating resulted in a clinically meaningful improvement in autonomy. CONCLUSIONS: Ratings of the quality of longer term mental health facilities made by service managers were positively associated with service users' autonomy and experiences of care. Interventions that improve quality of care in these settings may promote service users' autonomy

Aggression in Low Functioning Children and Adolescents with Autistic Disorder

BACKGROUND: Parents, caregivers and mental health professionals have often reported violence and aggression in children or adolescents with autistic disorder. However, most of these observations derived from anecdotal reports, and studies on frequency and characterization of aggression in autism remain limited. Our objective was to better characterize and understand the different types of aggressive behaviors displayed by a large group of individuals with autism in different observational situations. METHODOLOGY/FINDINGS: The study was conducted on 74 children and adolescents with autism and 115 typically developing control individuals matched for sex, age and pubertal stage. Other-Injurious Behaviors (OIB) were assessed in three observational situations (parents at home, two caregivers at day-care, a nurse and a child psychiatrist during blood drawing) using validated scales. The frequency of OIB was significantly higher in individuals with autism compared to typically developing control individuals during the blood drawing (23% vs. 0%, P<0 .01). The parents observed significantly less OIB in their children than caregivers (34% vs. 58%, P<0.05). In addition, the most frequent concurrent behaviors occurring just before the appearance of OIB in individuals with autism were anxiety-related behaviors and excitation according to the parental as well as the caregiver observation. CONCLUSIONS/SIGNIFICANCE: The results suggest that in a stressful situation, such as the blood drawing, individuals with autism release their stress through behaviors such as OIB, whereas typically developing individuals regulate and express their stress through cognitive skills such as mental coping strategies, symbolization skills with representation and anticipation of the stressful situation, social interaction and verbal or non-verbal communication. The findings underline also the key role of the environment in assessing OIB and developing therapeutic perspectives, with an individual who modulates his/her behavior according to the environment, and an environment that perceives this behavior and reacts to it with different tolerance thresholds according to the observers