Le dépistage précoce des Troubles du Spectre de l’Autisme (TSA) (avant 24 mois) chez les patients améliore significativement le pronostic évolutif de l’enfant. C’est pourquoi les chercheurs visent à identifier des précurseurs comportementaux et/ou neurophysiologiques présents dès les premiers mois de la vie de l’enfant. Des recherches prospectives sont en particulier effectuées au sein de fratries à risque de TSA. L’étude de fratries à risque consiste à suivre longitudinalement une cohorte de puînés d’enfants déjà diagnostiqués avec un TSA. Parmi ces enfants, 10 à 20 % d’entre eux recevront un diagnostic de TSA lors de leur troisième année. Notre article vise ainsi à synthétiser brièvement les études cliniques et neurophysiologiques explorant les marqueurs précoces associés à l’émergence des symptômes autistiques chez l’enfant.
Early recognition of Autism Spectrum Disorders (ASD) in patients before the age of 24 months significantly enhances the prognosis of affected children. That's why researchers try to identify behavioral and/or neurophysiological precursors in the first months of life of children. Prospective studies are specifically performed in infant siblings at risk of ASD. The longitudinal high-risk sibling studies of ASD follow a cohort of children with an older sibling already diagnosed with ASD. Of these, 10-20% will be diagnosed with ASD during their third year. This review aims to summarize the clinical and neurophysiological studies investigating early markers associated with the emergence of autistic symptoms in children.
Purpose: Previous reports have indicated that raising a child with Gilles de la Tourette syndrome (GTS) could be considered a stressful experience. Thus our study aimed to assess the impact of perceived stress (i.e. parental cognitive perception of their child's disorder) and social support (number of people surrounding the subject providing support) on coping strategies-defined as processes of restoring balance between excessive demands and inadequate resources-of parents having a child with GTS.Methods: Twenty-eight parents of 21 patients with GTS (aged 6 to 16 years) completed questionnaires on perceived stress (ALE Scale), social support (SSQ6), coping strategies (WCC-R) and anxiety-depression (HAD).Results: Principal component analysis showed a negative correlation between social support on one side and perceived stress and anxiety/depression on the other. Problem- and emotion-focused coping both correlated with social support, all of them being independent from perceived stress and anxiety/depression. Hierarchical ascendant classification showed three clusters of individuals in our parents' groups: i) those having high scores in perceived stress and anxiety-depression; ii) those having high scores in social support associated with low scores in perceived stress; iii) parents having lower than average scores on both problem- and emotion-focused coping and social support.Conclusion: Our results reinforce the need for developing training programs for parents with GTS children to better understand and tolerate the disorder to decrease their stress. (C) 2015 Elsevier Inc. All rights reserved.
The present research tested whether young children with Autism Spectrum Disorders (ASDs) shows impaired recognition of basic-emotion expressions (anger, fear, happiness, sadness, disgust) and the same emotions embedded in a social background (i.e. simple versus complex facial emotion recognition), compared with typically developing (TD) children. Moreover, we investigated whether cognitive flexibility could be linked with these faces processing skills. Our results showed that performance in ASD children was similar to the group of TD children for simple emotion recognition whereas TD children outperformed ASDs children in the complex task. In the second part, our study tends to confirm a link between cognitive flexibility and faces processing skills in children with ASD, especially when different contextual cues are present to extract facial emotion. We confirm previous findings demonstrating that individuals with ASDs use an effortful "systematizing" process to recognize emotion expressions, whereas TD individuals use a more holistic process. These results are discussed within the context of current neuropsychological studies on "weak central coherence", hyper-systemizing theory, and lack of cognitive flexibility in ASD. (C) 2014 Elsevier Masson SAS. All rights reserved.
Previous findings from researchers on individuals with Asperger Syndrome (AS) suggest peculiarities of autobiographical memory (AM). They have shown a personal episodic memory deficit in the absence of a personal semantic memory impairment. The primary aim of this study was to explore AM in individuals with AS, and more specifically to investigate the link between episodic memory, self-awareness, and autonoetic consciousness through language analysis. We asked fifteen adults with AS and fifteen age- and IQ-matched controls to recall autobiographical memories from three life periods. Recorded interviews were processed using Alceste software. We found that participants with AS recalled fewer and less-detailed episodic memories than did controls. A content analysis revealed that family-related vocabulary as well as possessive pronouns was significantly less frequent in AS interviews than in those of controls. In conclusion, our results support the hypothesis that a deficiency of episodic memory may be due to poor awareness of the self in social relationships. Reduced use of possessive pronouns may also indicate less self-investment in life experiences, which would in turn impact recall.
The difficult economic context of Western countries and sociocultural changes in family structure are increasing the complexity and diversity of parental roles in the accomplishment of everyday tasks. This phenomenon is especially marked in socially and economically disadvantaged areas, which are particularly destabilised by environmental problems. Studies in this field have suggested that parental attitudes and educational practices play a key role in the development of the child. However, these practices remain malleable, and they may oscillate between being risk factors and protective factors. Exploiting this theoretical framework with the goal of reducing the socio-affective and educational risks to children, preventive interventions can be implemented, with the aim of helping parents in their role as educators. The development of parental support programmes, involving efforts to improve parental attitudes and educational practices in a qualitative manner, can thus mediate between disadvantaged socio-economic environment and the behavioural, cognitive and affective development of the child. This article presents exploratory research on this theme, evaluating changes in the attitudes and educational skills of the parents of young children from disadvantaged socio-economic environments following their participation or non-participation in a parental education programme. Fifteen mothers from disadvantaged socio-economic backgrounds took part in a parental education programme entitled "Being the parent of young children" (EPJE; Terrisse and Pithon, 2008), which used a series of cartoons to address the management of educational problems. This group was compared with a control group of 10 mothers from the same socio-economic environment, matched for age and education level. All the families selected received educational assistance at home (AED) or attended clinics (Service de protection rnaternelle et infantile: PMI) for children under the age of six years. The two groups were evaluated with the Echelle des Competences Educatives Parentales (ECEP; the Parental Educative Skills Scale: Terrisse and Larose, 1999), which explores (a) the "rigidity/flexibility", "wariness/confidence" dimensions of educational attitudes; (b) "normative/elaborative" and "severity/liberalism" aspects of parental behaviour; (c) the feeling of parental "control" according to an "internality/externality" axis. The experimental group was also evaluated to assess the acquisition of knowledge about child education and degree of satisfaction with the programme. We found that the educational attitudes of the mothers in the experimental group changed significantly more towards greater flexibility than those in the control group and, in general, their educational style evolved more favourably than that of the control group (more elaborative practices, more internalised feelings of control). Similarly, the significant difference in results in tests of knowledge before and after the programme reveals an improvement in the identification and appropriation of educational practices by parents. All the mothers of the experimental group declared that their confidence in their ability to manage the difficulties of their child had definitively increased following the programme. This exploratory study demonstrates the beneficial effects of a parental support programme, although the small size of the sample currently precludes the generalisation of these results.Nevertheless, this preliminary study improves our understanding of the processes occurring within these educational groups, the objective being to develop a feeling of competence in parents, by giving them the means to provide an educational structure favouring a better outcome for their child. This research also opens up new possibilities for considering the cultural characteristics of parents from disadvantaged environments, who often come from very different communities. (C) 2011 Elsevier Masson SAS. All rights reserved.
IntroductionResults from clinical and molecular genetic studies suggest that autism spectrum disorder (ASD) and obsessive compulsive disorder (OCD) could have a shared pattern of heritability. Among a large number of clinical variables evaluated, obsessive compulsive/repetitive behaviors have been found to be highly correlated among autism probands and their relatives. Empirical evidence from neuropsychological studies suggest that an appropriate model for repetitive behaviours is a deficit of executive functions specifically flexibility. Given the lack of flexibility observed in ASD and OCD probands, we hypothesised that it could represent a shared endophenotype in both families.MethodsSeven cognitive tests belonging to executive functions, central coherence and theory of mind were proposed to 58 unaffected first-degree relatives of probands with ASD and 61 unaffected first-degree relatives of OCD patients and compared with 34 healthy controls. A principal component analysis (PCA) was performed.ResultsASD relatives - specifically mothers - performed significantly worse on all the tests than OCD relatives and controls. Moreover, inside the OCD group, female individuals performed significantly worse than males. Finally, the PCA indicate that the cognitive profiles of the ASD relatives and the OCD relatives were similar but distinct from controls.ConclusionLack of cognitive flexibility is observed in ASD and OCD families and might constitute a shared intermediate cognitive phenotype. Our study constitutes an effort to clarify the relationship between ASD and OCD having implications for our nosological understanding of both disorders.
Background. - Autism is a group of neurodevelopmental disorders with heterogeneous phenotypic expression. Twin and family-based studies have demonstrated the importance of genetic factors in the etiology of these disorders. The pioneering work of Folstein and Rutter (1977) [16], showing concordance - 82% in non affected monozygotic twins and 10% in non affected dizygotic twins - for cognitive deficits (mostly affecting language), has directed work towards family-based studies aiming at demonstrating the existence of a "broad autism phenotype" (BAP), corresponding to the extension of the "autistic" phenotype in the relatives of affected children (Bailey et al., 1998 [5]). This notion of a broad phenotype makes it possible to take into account abnormalities in one or more of the three domains of the syndrome: communication, socialization and restrained and obsessive interest in a succession of subjects, with qualitatively similar but quantitatively smaller difficulties observed in the relatives.Literature findings. - We review here previous studies investigating the broad phenotype in the relatives of children with autism. We focus specifically on the hypothesis of a link between the aggregation of social deficits and of psychopathological problems, such problems being more frequently observed in these families than in families with other types of handicap (Abbeduto et al., 2004 [1]). Although the difficulties observed in these families may be partly explained by the stress of having to raise a heavily disabled child, genetic susceptibility factors may play a role in the occurrence of these problems in the families of autistic children. Constantino and Todd (2003) [14] support the hypothesis that a single factor is transmitted in families - social reciprocity - and may be responsible for the overall dysfunction in the various domains of the syndrome in affected individuals. However, this susceptibility factor may be linked to other deficits observed in certain psychiatric disorders (e.g., attention deficit in ADHD), consistent with the hypothesis that there is a link between the broad phenotype and psychopathological problems.Conclusion. - This paper reviews this issue in the two domains of study described and presents a hypothesis to account for the possible link between the presence of the broad phenotype - or more specifically, of social deficits - and the more frequent occurrence of psychological problems in the families of autistic individuals. The notion of temperament (Garon et al., 2009 [17]) is proposed and considered to present essential characteristics that might account for this relationship: indeed, temperament is associated with notions of IQ, psychopathology and social function and could potentially be used as a predictive variable in affected individuals. Finally, the link between temperament and psychopathology in the relatives of affected individuals may be reflected in the presence of cognitive peculiarities more specifically linked to socioemotional dysfunction (Losh and Piven, 2007 [22]). (C) L'Encephale, Paris, 2010.
In the literature of recent decades, studies of families with a child with severe disabilities have largely focused on the negative impacts of these situations. This article aims to highlight a more “positive” by presenting, in a first part, the different streams of research on family resilience. Then, in illustration of these areas of study, we present research conducted in families having a child with autism, taking into account the specificity of each risk area. Finally, we propose a model for integrative study of resilience in autism, referred to preventive but also therapeutic interventions.
Twin and family studies have established that there is a strong genetic basis for autism spectrum disorders. To facilitate the identification of susceptibility genes and to study pathways from gene-brain to cognition a more refined endophenotype-based approach may be useful. The purpose of the present study was to examine the neurocognitive endophenotype of autism, in families with multiple incidence autism. Eighty-six members of 18 families containing at least two individuals with autism were neuropsychological assessed. Children with autism, showed weak central coherence, but this “trait” could not be found in their parents nor in non-affected siblings. All family members, including the sibpairs with autism, showed deficits within executive functions, involving planning ability, but normal set-shifting. The sibpairs with autism – but not their other family members – showed significant correlations within two visuo-spatial tasks. Deficits in executive functions (specifically planning ability) appear to characterize the broader endophenotype of autism. Our findings do not confirm the hypotheses of weak central coherence or deficits in theory of mind as part of the broader endophenotype of autism. Deficits in visual scanning may be a feature of the manifest phenotype of autism.
The aim of the study is to shed light on the specific period of adolescence in families having a child with autism spectrum disorder (ASD). We investigated the coping strategies used by 13 mothers having a youth with ASD, using a quantitative scale (the WCC-R), the concept of parenting being addressed by interviews. Our work shows that mothers preferentially use problem-focused coping strategies. However and paradoxically, the interviews highlight the prominence given to the support of their spouse, especially on the educational aspects but not on the emotional ones. This result highlights the difficulties of addressing the concept of "couple" in these families, facing the need to be "parents". Finally, our study highlights the concerns of mothers face the future of their children that explain - in part - the use of concrete strategies in daily life, aiming to achieve the autonomy of young people with ASD. (C) 2010 Societ francaise de psychologie. Published by Elsevier Masson SAS. All rights reserved.
Résumé Dans la littérature de ces dernières décennies, les études menées auprès de familles ayant un enfant souffrant d’un handicap grave se sont majoritairement centrées sur les impacts négatifs de ces situations de vie. Cet article vise à mettre en évidence une orientation plus « positive » en présentant, dans une première partie, les différents courants de recherche sur la résilience familiale. Puis, en illustration de ces domaines d’étude, nous présenterons les recherches effectuées dans les familles ayant un enfant atteint d’autisme, qui permettent de prendre en compte la spécificité propre à chaque domaine de risque. Enfin, dans la dernière partie de notre exposé nous proposerons un modèle d’étude intégratif de la résilience dans l’autisme, dans une visée préventive mais, également, dans des interventions thérapeutiques.
Since their child has been diagnosed as having an autistic spectrum disorder (ASD), parents are confronted with important and chronic stress in their everyday life. To face it, they use coping strategies. Using qualitative analyse, this article exposes preliminary results on changes in coping strategies of ASD families and presents how parents manage to adjust their coping. (C) 2009 Societe francaise de psychologie. Published by Elsevier Masson SAS. All rights reserved.
Resilience refers to patterns of positive adaptation in the context of significant risk or adversity. The notion of "family resilience", by developing key concepts emerging from studies of resilience, has extended ideas previously restricted to individuals to groups. Due to this theoretical complexity, we should pay homage to the pioneers in this field, who proposed the concepts essential to our current work. We will begin by describing these models, highlighting their remarkable topicality. We will then use a clinical example - families requesting a cochlear implant for a child with severe hearing impairment - to demonstrate the differing effects of certain variables, acting as protective factors in some situations and risk factors in others. The value of such models in the field of family resilience studies lies not only in prevention, but also in practice, as they make it possible to take into account the very large number of variables involved more effectively. (C) 2008 Societe francaise de psychologie. Publie par Elsevier Masson SAS.