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The purpose of this paper was to explore the social stigma experienced by individuals diagnosed with ASD+ID, and to identify knowledge gaps for future studies by conducting a systematic review of peer-reviewed literature. In this systematic review, we included 12 studies exploring the experience of stigma among people with ASD+ID and/or their caregivers. Our aim was to better understand this experience, but also to explore the strategies used to cope with stigma in this population. Our results confirmed that people with ASD+ID and their caregivers experience at least low to moderate levels of stigma, and that this experience is modulated by internal and external factors (such as parental age, mindfulness traits, ASD symptoms ). In addition, our results show the impact of stigma on community integration, psychological well-being and help-seeking behaviour. The role of family, friends and professional support, as well as the formation of networks to share information, appear in our results to be protective factors against stigma. To our knowledge, this study is the first systematic review to examine the stigmatisation of people with ASD+ID and/or their caregivers. Further research is needed to understand the perspective of people with ASD+ID themselves and to explore other factors that modulate this experience, in particular gender and ethnicity.
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BACKGROUND: Relatives of ADHD probands are known to be at increased risk of schizophrenia and bipolar disorder, suggesting shared genetic factors. In this study, we aim to identify shared common risk variants (i.e., Single-Nucleotide Polymorphisms, SNPs) between ADHD and schizophrenia, and between ADHD and bipolar disorder. METHODS: With the summary data from three GWAS, one on ADHD (20,183 cases with ADHD and 35,191 controls), another on schizophrenia (76,755 cases with schizophrenia and 243,649 controls) and another on bipolar disorder (41,917 cases with bipolar disorder and 371,549 controls), we used colocalization analysis to identify SNPs shared by ADHD and schizophrenia, and SNPs shared by ADHD and bipolar disorder. Functional genomic analyses were then conducted on these two sets of shared common genetic variants. RESULTS: We found that three of the 12 SNPs associated with ADHD colocalized with schizophrenia SNPs and one of the 12 SNPs associated with ADHD colocalized with bipolar disorder. Only 0.4% of the SNPs associated with schizophrenia (2 out of 431) and 2.3% of the SNPs associated with bipolar disorder (2 out of 86), colocalized with ADHD SNPs. Some genes mapped to these shared genetic variants (SCN2A and UNC5D) are involved in the development of the nervous system. CONCLUSIONS: Using colocalization analysis, the present study uncovers shared genetic variants associated with ADHD and schizophrenia as well as ADHD and bipolar disorder, and may at least partially explain the increased risk of schizophrenia and bipolar disorder in relatives of ADHD probands.
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Autistic people without Intellectual Developmental Disorders (IDD) have a significantly lower employment rate compared to the general population even though employment favors social integration and quality of life. AIMS: To examine the barriers and facilitators to employability in mainstream settings for autistic adults without intellectual disability. METHODS: Following the scoping review guidelines, we searched the Cochrane, PubMed and PsycINFO databases for references published between 01/01/2000 to 01/08/2023. RESULTS: A review of the 44 identified articles suggests the existence of multiple individual and environmental factors influencing job access and retention. CONCLUSIONS: This is the first review to assess the facilitators and barriers to employment support for autistic people without intellectual disability. The results underline the need for studying strategies to promote access to employment and job retention for autistic people. Future research should explore the mediating and moderating factors leading to the improvement of employability of autistic people WIDD.
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Developmental coordination disorder is a frequently co-occurring condition with autism spectrum disorder (ASD). Several cross-sectional studies have reported that children with difficulties in motor skills have a higher severity of ASD symptoms. This study aims to examine the association of difficulties in motor skills with longitudinal changes in social skills in children with ASD. Participants were drawn from the ELENA cohort, a French longitudinal cohort of children with ASD. Motor skills were assessed using the Movement Assessment Battery for Children at baseline, while social skills were measured using the Autism Diagnostic Observation Schedule (ADOS-2) and the Vineland Adaptive Behavior Scales (VABS-II) at both the baseline and a follow-up assessment conducted 3 years later. A composite score of social skills was created at baseline and at both time points. Linear regression models were performed to assess the association between difficulties in motor skills and changes in social skills, considering potential confounders such as IQ, age, and gender. The sample included 162 children with ASD. Children with difficulties in global motor skills (N = 114) showed less favorable trajectories in social skills compared to those without motor difficulties. The results were consistent when examining the ADOS-2 and the VABS-II separately. This study provides evidence for the negative impact of difficulties in motor skills on the longitudinal development of social skills in children with ASD. Interventions targeting motor difficulties may have broader benefits, extending beyond motor function to improve socialization.
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Trastorno del Espectro Autista , Destreza Motora , Habilidades Sociales , Humanos , Trastorno del Espectro Autista/fisiopatología , Trastorno del Espectro Autista/complicaciones , Femenino , Masculino , Niño , Estudios Longitudinales , Francia , Destreza Motora/fisiología , Trastornos de la Destreza Motora/fisiopatología , Trastornos de la Destreza Motora/psicología , PreescolarRESUMEN
INTRODUCTION: With the Cognitive Orientation to daily Occupational Performance (CO-OP) approach, children with developmental coordination disorder learn to use a problem-solving strategy to deal with their motor difficulties and perform daily activities of their choice. Therapists use guided discovery to enable children to find their own solutions. Although CO-OP is recommended in a group setting, studies are needed to support its effectiveness. METHODS AND ANALYSIS: A single-case study design with multiple baselines across participants and four systematic replications will be used. In each of the five groups, four children (aged 8-12 years) will be randomly included at the baseline. The baseline includes 5-8 measurements, and the CO-OP intervention stage is comprised of 10 sessions. The follow-up stage includes five measurements. Prior to baseline, each child in each of the five groups will choose five activities of which three will be carried out during the intervention sessions. Children's performance in each of these activities will be scored using the Performance Quality Rating Scale (PQRS) as the main measure. Three secondary measures will be collected: perceived activity performance using the Canadian Occupational Performance Measure, quality of life using the Kidscreen-27 and spontaneous motor rhythm using a computerised typing task. Graphed data will be analysed visually at the individual level with the Visual Aid Implying an Objective Rule (VAIOR) protocol which provides a colour code based on the level and trend of two consecutive phases, facilitating an objective visual analysis. Statistics will be performed for PQRS scores at the individual level and at the group level. ETHICS AND DISSEMINATION: The protocol has been approved by the Comité de protection des personnes Sud-Est I (CPP 2021070) and the Comité d'éthique de la recherche avec les êtres humains de l'Université du Québec à Trois-Rivières (CER-22-294-07.03). Results will be published in a peer-reviewed scientific journal. TRIAL REGISTRATION NUMBER: NCT05231486.
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Trastornos de la Destreza Motora , Niño , Humanos , Trastornos de la Destreza Motora/terapia , Trastornos de la Destreza Motora/psicología , Proyectos de Investigación , Calidad de Vida , CanadáRESUMEN
Psychotropic drugs are often used to treat behavior problems in ASD with some evidence supporting efficacity (e.g.: risperidone and irritability) but also significant side effects at the short and longer-term. It is then essential to know better the factors associated with the prescription of these medications and potentially implement early behavioral and psychosocial intervention or cognitive remediation before to use medication. We designed a case-control study based on the population of the ELENA cohort to assess the factors associated with early psychotropic drugs use in children with ASD. Externalized behavior symptoms (measured by the Child Behavior Checklist) is the leading risk factor during the first years of follow-up (aOR = 2.8; CI [1.04; 7.67]; p = 0.04). Age, gender, autism severity, adaptive behaviors, or internalized behaviors were not associated with psychotropic medication prescription. Low IQ and parents who had received training tended to increase the risk of psychotropic medication prescription during follow-up but were not statistically significant. These findings underscore the need for early identification of symptoms of externalizing behaviour, early appropriate information for parents about treatment with and without medication, early analysis of externalising behaviour and targeted treatments.
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There are strong individual differences in adaptive behaviors (AB) in autism spectrum disorder (ASD) with conflicting results in literature about specific patterns and related factors. The present study aims to describe AB and identify related factors in terms of clinical and socio-familial characteristics in 875 children and adolescents with ASD in the multiregional ELENA cohort in France. Results showed that AB in children and adolescents with ASD were lower than in typically developing subjects, regardless of age group. AB were associated with clinical (gender, age at diagnosis, IQ, ASD severity, psychiatric comorbidities, motor and language skills, challenging behaviors), interventional (school attendance, special interventions) and familial characteristics (age, educational and socio-economic status of parents, household status, number of siblings). There is a need of interventions focusing on improvement of AB, tailored to children's characteristics.
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Trastorno del Espectro Autista , Humanos , Niño , Adolescente , Trastorno del Espectro Autista/psicología , Francia/epidemiología , Cognición , Comorbilidad , Adaptación PsicológicaRESUMEN
BACKGROUND: ASD in a child affects parental mental health, with elevated levels of stress, anxiety and depression reported in parents. METHOD: In this study, we examined mothers' and fathers' stress, anxiety and depression, as well as their coping strategies in a sample of 103 children and adolescents enrolled in the ELENA cohort study in France at diagnosis and three years after diagnosis. RESULTS: Results showed that mothers had higher levels of stress and anxiety / depression than fathers and used more social support coping strategies at diagnosis, which might be explained by increased levels of parental involvement. Mothers' stress level significantly decreased during the three years following ASD diagnosis but no such decrease was observed in fathers' stress level. A significant decrease in anxiety and depression was observed for both parents, suggesting that parental distress is particularly elevated during the critical diagnosis period. Results finally yielded a significant decrease in emotion-focused coping strategy in mothers over the three-year period, an ineffective strategy that takes places at the time of diagnosis but then decreases during the period following ASD diagnosis, in relation to the acceptance process. CONCLUSIONS: Implications in terms of addressing the unmet mental health needs of parents and their coping strategies are discussed.
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Trastorno del Espectro Autista , Padre , Masculino , Niño , Femenino , Adolescente , Humanos , Padre/psicología , Salud Mental , Estudios de Cohortes , Madres/psicología , Adaptación Psicológica , Padres/psicología , Trastorno del Espectro Autista/diagnósticoRESUMEN
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that results from a complex interaction between genes and environment. Breastfeeding (BF) is thought to promote healthy cognitive development, and a body of research has suggested that it may also protect against ASD. Our objectives were to identify the relationship between the initiation and duration of BF and the severity of clinical presentation in ASD. Data were collected from 243 children with a confirmed diagnosis of ASD followed in the ELENA cohort. Clinical severity was measured according to multiple dimensions using standardised tools. The frequency of the initiation of BF was comparable to that of the general population and the rate of children still being breastfed at six months of age was higher. Our results did not indicate a contribution of initiation or duration of BF to the prevention of clinical severity of ASD. We discuss our results in the light of possible methodological limitations of previous reports of an association between BF and ASD.Clinical Trial Registration: NCT02625116.
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Trastorno del Espectro Autista , Lactancia Materna , Niño , Femenino , Humanos , Trastorno del Espectro Autista/epidemiología , Trastorno del Espectro Autista/etiología , Cognición , Estado de Salud , Factores de RiesgoRESUMEN
INTRODUCTION: The elevated rates of neurodevelopmental disorders (NDDs) among siblings of children with autism spectrum disorder (ASD) raise concerns about their developmental monitoring and development. The main aim of this study is to assess the feasibility and acceptability of a standardised screening process on a large sample of siblings. METHODS AND ANALYSIS: This prospective study will assess the feasibility of a selective and multi-stage screening process for NDD performed on 384 siblings of children with confirmed ASD. Stage 1 will consist of the screening of NDD performed using online parental questionnaires (Social Responsiveness Scale, IdentiDys scale, DCDQ, parental concerns) through a web platform. In cases of a positive result, the second stage, consisting of a clinical semi-structured interview with a psychologist, will be proposed to the sibling before referral for diagnosis and treatment, if necessary. Approximately 12 months after stage 2, parents will be contacted by telephone to collect the diagnosis established following the referrals and their level of satisfaction concerning the screening process. Based on an expected participation rate of 50%, to estimate this rate with an accuracy of 5%, it is necessary to screen 384 subjects. ETHICS AND DISSEMINATION: The Ethics Committee on the Research of Human Subjects of Paris (Ile de France VII) approved this study in March 2022 (number: 2021-A02241-40). Express consent is required from all participants. Findings from the cohort study will be disseminated by publication of peer-reviewed manuscripts, presentations at scientific meetings and conferences with associated teams. TRIAL REGISTRATION NUMBER: NCT05512637.
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Trastorno del Espectro Autista , Trastorno Autístico , Trastornos del Neurodesarrollo , Humanos , Niño , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/terapia , Hermanos , Estudios de Cohortes , Estudios Prospectivos , Trastornos del Neurodesarrollo/diagnósticoRESUMEN
OBJECTIVES: Autism spectrum disorder (ASD) has a major impact on caregivers. We aimed to describe caregivers' perceptions concerning their level of knowledge about ASD and their needs to better adapt education and training programs. METHODS: This was a descriptive cross-sectional study conducted through a declarative and self-administered survey in France. RESULTS: 1,013 individuals answered the questionnaire in 2020. If most caregivers felt they had sufficient knowledge about ASD, they still expressed a high level of needs regarding acquiring knowledge, identifying available resources, and finding social/emotional support. CONCLUSIONS: This study highlights the high level of needs of caregivers and their expectations of improving their knowledge and skills to help the person with ASD.
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Trastorno del Espectro Autista , Cuidadores , Humanos , Cuidadores/psicología , Autoinforme , Trastorno del Espectro Autista/psicología , Estudios Transversales , Encuestas y CuestionariosRESUMEN
LAY ABSTRACT: Multimorbidity relates to having multiple chronic health conditions. It is a risk factor for poor health and reduces life expectancy. Autistic people have multiple chronic health conditions and die prematurely, especially if they have an intellectual disability (autism spectrum disorder and intellectual disability). Certain pathophysiological processes observed in autism spectrum disorder are common to those related to the genesis and/or maintenance of multimorbidity. Furthermore, multimorbidity could be helpful in better identifying patient subgroups in autism spectrum disorder. It is therefore essential to better characterize multimorbidity and its consequences in the subgroup of autism spectrum disorder + intellectual disability individuals to offer them personalized care. We conducted a preliminary study of 63 autism spectrum disorder + intellectual disability adults to classify them according to their multimorbidity and search for a specific combination of chronic health conditions. We observed high and early multimorbidity in this sample and identified four classes of participants, distinguished by their multimorbidity status, independence and number of treatments. In addition, we observed a dominant combination of multimorbidity in our sample, combining immune dysfunction and gastrointestinal disorders, neurological and joint diseases. These findings support the hypothesis that an altered gut-brain relationship is involved in the risk of autism spectrum disorder, its outcome, and its association with chronic health conditions. Although larger studies are needed, our results suggest that subgroups of autism spectrum disorder + intellectual disability individuals can be identified based on their multimorbidity and potentially different ageing trajectories. A more comprehensive and personalized approach is needed to reduce the burden of multimorbidity and increase the quality of life and life expectancy in autism spectrum disorder/ intellectual disability.
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Trastorno del Espectro Autista , Trastorno Autístico , Discapacidad Intelectual , Afecciones Crónicas Múltiples , Humanos , Adulto , Discapacidad Intelectual/epidemiología , Discapacidad Intelectual/complicaciones , Trastorno Autístico/complicaciones , Calidad de Vida , MultimorbilidadRESUMEN
Autism spectrum disorder (ASD) has a significant impact on the quality of life (QoL) of families. This study aimed to examine, for parents of children with ASD, the dyadic effect of each parent's coping strategy on the perception of the impact of ASD on their QoL. In total, 164 couples completed self-report questionnaires, including the Par-DD-QoL, to evaluate the parental perception of QoL. Results from the actor-partner interdependence model showed that, in addition to the effect of the mothers' and fathers' emotion-focused coping on their own perception of QoL, the mothers' emotion-focused coping plays a key role in the fathers' perception of QoL. These findings suggest that both parents of children with ASD would benefit from couple-focused interventions.
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Trastorno del Espectro Autista , Calidad de Vida , Femenino , Humanos , Niño , Masculino , Padres , Adaptación Psicológica , Madres , PadreRESUMEN
Autism Spectrum Disorder (ASD) is an early onset neurodevelopmental disorder in which the first signs generally emerge at approximately 12 months of age but its diagnosis is feasible only from the age of 18 months. According to the literature, the average age of diagnosis ranges from 2.7 to 7.2 years, which raises the question of factors associated with early diagnosis as a condition for early intervention. In this systematic review, we aim to identify clinical, social, and environmental factors associated with the age at which the diagnosis of ASD is confirmed in children. A literature search was performed in the Pubmed, Web of Sciences, PsycInfo, and Cochrane databases. Among the 530 publications identified, 50 were selected according to the inclusion criteria. This review focuses on studies conducted in 21 countries using data collected over a period from 1987 to 2017. These studies were published before December 31st, 2019. The results suggest that the diagnosis of ASD occurs earlier if there is a delay in social communication or the presence of intellectual disability. There is a low level of evidence concerning associations between the age at diagnosis and sex, race, parental education, or socioeconomic status and accessibility to health care. Further studies using large and well-characterized data sets are needed to simultaneously explore clinical and socio-environmental factors involved in early diagnosis.
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Trastorno del Espectro Autista , Humanos , Niño , Adolescente , Preescolar , Lactante , Trastorno del Espectro Autista/diagnóstico , Prevalencia , Padres , Diagnóstico Precoz , ComunicaciónRESUMEN
BACKGROUND: Direct support workers (DSWs) accompany adults with autism spectrum disorder (ASD) and intellectual disability (ID) in residential care homes. Such DSWs, without specialised ASD training, are exposed to chronic stress linked to supporting ASD-ID clients and must adjust by coping strategies adapted to the needs of the residents. Nevertheless, difficulties adjusting constitute a burnout risk for DSWs, characterised by high levels of emotional exhaustion, depersonalisation and loss of a sense of personal accomplishment. We aimed to describe the burnout of DSWs who support adults with ASD-ID and to identify personal variables (experience and specialised training for ASD) and transactional variables (perceived stress and coping strategies) that could predict and mediate burnout. METHOD: In total, 125 DSWs accompanying ASD-ID adults on a daily basis were included. Each participant answered four questionnaires measuring burnout, sociodemographic and professional variables, coping strategies and perceived stress. RESULTS: Five per cent of DSWs were in a state of burnout. Eighteen, six and fifty-nine per cent showed high average scores of emotional exhaustion, depersonalisation and loss of a sense of personal accomplishment, respectively. Being older, specialised training in ASD, stress perceived as a challenge and problem-focused coping strategies were associated with low levels of depersonalisation and loss of a sense of personal accomplishment. CONCLUSIONS: Understanding the burnout process of ASD-ID DSWs may require the assessment of the organisational characteristics linked to the quality of life of the DSWs and the recognition of their specific needs when facing difficulties. The necessary ASD-focused training and support depends on an appraisal that would be individualised to adult ASD-ID DSWs.
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Trastorno del Espectro Autista , Agotamiento Profesional , Discapacidad Intelectual , Humanos , Adulto , Calidad de Vida , Agotamiento Profesional/psicología , Adaptación PsicológicaRESUMEN
Inclusion of students with Autism Spectrum Disorder (ASD) in mainstream schools has a positive impact on their social and daily living behaviors. Our objective was to identify clinical and socio-demographic variables promoting or limiting inclusion in mainstream school through childhood and adolescence. The EpiTED study is a long-term, prospective, multicenter cohort of 281 ASD children included before the age of 7, with a 10-year follow-up in France. Variables significantly linked to inclusion in mainstream school were identified using a mixed-effect logistic regression model: greater autonomy [OR = 1.45 (1.29-1.63)], lesser symptom severity [OR = 0.96 (0.92-0.99)] and fewer siblings [OR = 0.86 (0.75-0.99)]. In the multivariate model, the probability for a child of being included in mainstream school decreased over time [OR = 0.91 (0.85-0.97)], i.e. with age.
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Trastorno del Espectro Autista , Adolescente , Humanos , Niño , Trastorno del Espectro Autista/diagnóstico , Estudios de Seguimiento , Estudios Prospectivos , Instituciones Académicas , EstudiantesRESUMEN
Background: The COVID-19 pandemic may affect the screen time of children and adolescents with Autism Spectrum Disorders (ASD). This study aimed to examine the screen time of children and adolescents with ASD during a discrete lockdown period in France and identify risk factors for excessive screen time. Methods: The study sample consisted of 249 ASD subjects, 3-17 years of age, enrolled in the ELENA cohort. Information about the screen time was collected using the COVID-19 questionnaire specially created for this study. The clinical, socio-demographic and familial characteristics were collected from the last ELENA follow-up visit. Results: More than one third of subjects exceeded recommended levels of screen time and almost half of parents reported that their child spent more time using screen since COVID-19 pandemic beginning. Excessive screen time was significantly related to age with higher screen time in adolescents. Risk factors for excessive screen time were high withdrawn behaviors and low socioeconomic status for children, and older age and male gender for adolescents. Conclusion: These results imply to adapt the recommendations already formulated in general population concerning the good use of screens in youth with ASD. Specific recommendations and suitable guidance are needed to help children and adolescents with ASD and their parents implement the more optimal use of screen time activities for educational, therapeutic and social goals. Trial registration number: NCT02625116.
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Objective: The literature on sex related-clinical differences for children with autism spectrum disorder (ASD) is highly contradictory, whereas this topic has major clinical implications. We aimed to investigate sex-related clinical differences in children with ASD without intellectual disability (ID). Materials and methods: We compared 319 boys and 65 girls with ASD without ID, aged from 2 to 12 years, recruited from a multiregional cohort on their clinical profiles based on the scores for the Vineland-II, the SRS-2, the ADOS calibrated severity score, sensory processing, aberrant behaviors, and comorbidity rates. Results: Our results confirm a high sex ratio of 4.9 males/females. Many similarities were found in the clinical profiles. However, we found that girls had higher SRS-2 total scores. In addition, there was a negative correlation between the SRS-2 total score and the intellectual quotient level (IQ) for girls only. Conclusion: We confirm the higher rates of boys with ASD without ID. A comparison between the girls and boys showed them to have similar clinical profiles, except for the SRS- 2 total scores, which were higher among girls, suggesting more severe social impairment perceived by parents. Our findings that the cognitive level is related to ASD severity in girls should be taken into account during the diagnostic procedure in the clinical interpretation of gold-standard measures of ASD, and additional clinical observations are necessary. Clinical trial registration: [ClinicalTrials.gov], identifier [NCT02625116s].
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Anxiety in children with autism spectrum disorder (ASD) negatively affects their social interactions, and quality of life. It is necessary to identify early risk factors for anxiety to tailor prevention and interventions. We aimed to examine the clinical level of anxiety in children with ASD from 5 to 10 years of age and identify potential early risk factors 3 years earlier. Participants were ASD children included in ELENA, a French prospective cohort. In this study, we used the collection of data at Time 1-T1 (at baseline) and Time 2-T2 (3 years after T1). Two groups were identified at T2 according to the threshold for anxiety on the CBCL: ASD-only group and ASD + anxiety group. Our results showed that half of the children in our sample had a clinical level of anxiety at T2. Regression analysis showed that greater ASD severity and lower sensory processing difficulties predicted lower anxiety, whereas higher levels of restricted and repetitive behaviours tended to predict higher levels of anxiety. The high prevalence of clinical-level anxiety in our sample suggests the need for specific assessment and targeted treatment of anxiety on a routine basis.