Visual Exploration and Attention: Studies in Patients With Schizophrenia and Autism Spectrum Disorders...
Autism Spectrum DisordersSchizophreniaThe aim of the protocol is to better understand the impairments in visual processing, as such impairments may induce social interaction difficulties in subjects with autism spectrum disorders (adults and children) and schizophrenia, like face exploration.The same protocol will be used for the three populations, each population being compared with matched controls. The explorations are designed to test two different hypotheses regarding the mechanisms of the visual perception difficulties of the two populations. Even though difficulties to extract the global form of objects have been described in both subjects with autism and schizophrenia, we will test two different hypotheses for the two populations. We will test the hypothesis that subjects with autism display an advantage for the processing of local information arising at an early level of processing, whereas disorders observed in patients with schizophrenia originate from attention disorders. The protocol includes three consecutive studies, each one being applied in each of the three populations.
Susceptibility Genes in Autism Spectrum Disorders
Autism Spectrum DisordersThe main objective of the study is to define, for Autism Spectrum Disorder, the extent of genetic variation in synaptic pathways that may be targeted for therapeutic development. For this purpose the investigators will take advantage of large, well-characterized cohorts of patients with Autism Spectrum Disorder for genetic screenings. Targeted sequencing of selected synaptic genes, previously associated with Autism Spectrum Disorder, will be carried out in these cohorts with deep coverage of coding regions and a strong focus on previously untested regulatory regions. Genomic data from Copy Number Variant, whole genome sequencing and exome sequencing, available for some of these patients, will be integrated in the overall analysis. The investigators will strongly emphasize the establishment of comprehensive genotype/phenotype correlations and set up an induced Pluripotent Stem Cells collection from selected patients with synaptic mutations for functional and expression analysis.
Autism in Adult Patients and the Effects on Caregivers
AutismBackground: The number of adults with autism is expected to rise significantly in the near future, due to two main reasons: First, a dramatic increase in the estimates of the prevalence of autism starting in the mid 1980s; Second, the clinical diagnosis of autism was first introduced during the 1950s, and those diagnosed with autism back then are only now entering middle age. Few studies, however, have focused on the outcomes of adult autistic individuals, and very little is known about the course of autism in adulthood and on the familial burden resulting from caring for an autistic adult. We therefore propose to study adult outcomes in autism, and to examine the influence of raising an autistic individual on the parents. Working hypothesis and aims: The primary objectives of the study are: Determine clinical status and functioning of autistic adults. Study the influence of raising and caring for an individual with autism on the well-being of the parents.
Evaluation of the French Version of Screening Questionnaires for Autism and Asperger Syndrome: AQ,...
Asperger SyndromeAutismAutism is considered as an invading disorder of the development. Asperger Syndrome (AS) is a particular form of autism and is difficult to diagnose. The Autism Spectrum Quotient (AQ) has been developed in order to measure the degree of autistic traits in autistic adolescent with normal intelligence (Baron-Cohen et al. 2001, 2006). AQ comprises 50 questions, with 5 groups of 10 questions assessing imagination, social skills, attention switching, attention to detail and communication skills. Each of these items scores 1 point if the respondent records abnormal or autistic like behaviour. The minimum score on the AQ is 0 and the maximum 50. The principal objective of this study is to evaluate the accuracy of the French version of Autism Spectrum Quotient questionnaire. Secondary objectives are to: Evaluate if EQ and SQ can distinguish adolescents without psychiatric syndromes from those with classical autism or AS. Evaluate if AQ, EQ and SQ can distinguish adolescents with psychiatric disorders from autistic adolescents. Define the threshold of positivity for the 3 questionnaires.
Sexaffectivity in Autistic Spectrum Disorder
Autistic Disorders SpectrumSexual Behavior2 moreThe WHO defines sexual health as a state of physical, emotional, mental and social well-being, related to sexuality, not only the absence of illness, dysfunction or disability. To acquire and maintain adequate sexual health, the sexual rights of all people must be respected, protected and fully exercised. People with Autism Spectrum Disorder (ASD) present difficulties in the development of social interaction skills, among other problems that directly affect their sexual health. The consolidated prejudices and social myths related to the sexual affectivity of people with ASD, and in general to people with intellectual diversity, have meant that they do not pay any attention to the sexual health of this group in the assessment of their needs. Main objectives: to understand the experience lived by young people with ASD and their caregivers in relation to the affective needs during adolescence and to know the cognitive and behavioral expression of the affective dimension of adolescents with ASD. Mixed simultaneous design: qualitative based on the phenomenological paradigm, in order to establish the perceived needs of young adults with ASD, their families and the professionals who attend them, with the realization of focus groups and in-depth interviews. The second quantitative part will be developed in adolescents (12-18 years) and their families, evaluating the habitual behaviors and difficulties of Interaction in the affective expression, by means of questionnaires and self-administered scales. It will be necessary to sign the Informed Consent by all the participants, with the specific acceptance of the project by the CEIC of the investigator's center.
Characteristics of Autism Spectrum Disorder in Minors With Anorexia Nervosa in Remission
Anorexia NervosaAutism Spectrum DisorderWith this investigation, researchers wil look for a link between the appearance of anorexia nervosa and autism spectrum disorders in minors. Previous studies made clear already that patients with anorexia nervosa show elevated characteristics of autism spectrum disorder, when being meassured in adults and in patients in the acute fase of their anorexia nervosa. The purpose of this invenstigation is to see if their is also an elevated incidence of characteristics of autism spectrum disorder in minors with anorexia nervosa in remission.
The Development of Younger Siblings of Children With Autism Now at 10 Years of Age
Autism Spectrum DisordersBackground: Autism is a complex developmental disorder involving difficulties in verbal and nonverbal communication, social-emotional functioning, and markedly restricted interests and activities. Strong evidence from research conducted with family members of children with autism supports the role of genetic factors in its etiology. Thus, some family members are characterized by the broad autism phenotype (BAP) which involves a clinical picture of milder but qualitatively similar difficulties. Working hypothesis and aims: Researchers recently initiated prospective longitudinal studies investigating the early developmental profiles of young siblings of children with autism (SIBS-A). Such longitudinal SIBS-A study is currently conducted at the Hebrew University and includes the oldest siblings studied to date. Our main aim is to identify siblings who manifest any autism or BAP characteristics. Methods: Two groups, SIBS-A (n = 42) and siblings of children with typical development (SIBS-TD, n = 62), were seen at ages 4, 14, 24, 36, 54 months and 7 years. We plan to continue the investigation at age 10 years, a time when school related abilities and social/emotional competences are more consolidated and to investigate the developmental trajectories of children's abilities from age 4 months to 10 years using growth curve analyses. Expected results: We expect that compared to SIBS-TD, significantly more 10-year-old SIBS-A will display difficulties related to ASD or BAP related difficulties. We also expect to identify different patterns of stability and/or change in the development of children's abilities from age 4 months to 10 years, between the two groups. Importance: This study provides a useful approach for the examination of the main research hypothesis regarding the development of SIBS-A. One of the main advantages of using the growth curve analysis is the identification of early predictive markers for future development. Probable implications to Medicine: This research has significant implication for early identification and the search into the causes of autism and the BAP, as well as for implementation of early treatment and prevention programs. By highlighting expressions of ASD and the BAP in siblings, we may identify early clinically predictive behavioral markers associated with their onset and contribute to the investigation of underlying genetics mechanisms.
Functional MRI of Cognitive Control in Autism
AutismThis study aims to investigate the role of fronto-striatal circuits and cognitive control in the perseverative and inflexible behavior that is a defining feature of autism. We hypothesize that deficits in the development of fronto-striatal circuitry may underlie cognitive inflexibility in autism. Specifically, we hypothesize that repetitive, inflexible behavior arises as (1) fronto-striatal systems are capable of learning patterns present in the environment (as in implicit learning paradigms), but are unable to adapt behavior to changing circumstances, related to either (2) decreased ability of basal ganglia to detect violations of expectancy, (3) decreased ability of prefrontal cortex to respond to detected violations, or (4) decreased connectivity of the circuits. We are conducting three functional Magnetic Resonance Imaging (fMRI) studies to address these hypotheses.
Care Pathway for Children With Autism Spectrum Disorder Included in the ELENA Cohort
Autism Spectrum DisorderAutism Spectrum Disorder (ASD) is lifelong neurodevelopmental disorder that affect social communication and interaction and includes limited and repetitive patterns of behavior (DSM 5). In France, national guidelines about practices recommends early and specific interventions but care pathway are not well described for ASD children. The national health insurance information system record demographic data, medical condition, and reimbursed drug over 98% of the French population. In addition, the ELENA cohort is a large cohort of children with ASD followed for 6 years. Data collected include clinical characteristics of children (IQ, severity of ASD...) and parents (educational level, professional status...). The first objective of this project is to identify patterns of care trajectories using data from ELENA cohort matched to data from national health insurance information system. Secondary objectives are to examine the links between patterns of care trajectories and clinical characteristics, social environment of autistic children.
Pain and Emotional Expression in Children With Autism or Mental Retardation
AutismMental RetardationThe purpose of this study is to describe facial, behavioral and physiologic (heart rate) reactivity of children with autism aged 3 to 6 years old, during a painful stimulation (venepuncture). Children will be videotaped before, during and after a venepuncture. Each recording will be rated with the FACS (Facial Action Coding System) and the NCCPC (Non Communicating Children's Pain Checklist).