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BACKGROUND: While adult outcome in autism spectrum disorder (ASD) is generally measured using socially valued roles, it could also be understood in terms of aspects related to health status - an approach that could inform on potential gender differences. METHODS: We investigated gender differences in two aspects of outcome related to health-status, i.e. general functioning and self-perceived health status, and co-occurring health conditions in a large multi-center sample of autistic adults. Three hundred and eighty-three participants were consecutively recruited from the FondaMental Advanced Centers of Expertise for ASD cohort (a French network of seven expert centers) between 2013 and 2020. Evaluation included a medical interview, standardized scales for autism diagnosis, clinical and functional outcomes, self-perceived health status and verbal ability. Psychosocial function was measured using the Global Assessment of Functioning scale. RESULTS: While autistic women in this study were more likely than men to have socially valued roles, female gender was associated with poorer physical and mental health (e.g. a 7-fold risk for having three or more co-occurring physical health conditions) and a poorer self-perceived health status. Psychosocial function was negatively associated with depression and impairment in social communication. Half of the sample had multiple co-occurring health conditions but more than 70% reported that their visit at the Expert Center was their first contact with mental health services. CONCLUSIONS: To improve objective and subjective aspects of health outcome, gender differences and a wide range of co-occurring health conditions should be taken into account when designing healthcare provision for autistic adults.
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Trastorno del Espectro Autista , Trastorno Autístico , Masculino , Humanos , Adulto , Femenino , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/epidemiología , Trastorno del Espectro Autista/complicaciones , Autoinforme , Factores Sexuales , Estado de SaludRESUMEN
The origins of the male preponderance in autism incidence remain unclear. The idea that perinatal factors associated with sex differentiation (e.g., steroid hormone pathways) may increase the possibility of the emergence of autism is complementary to the hypothesis that female individuals are intrinsically less likely to develop autism. Empirical evidence for the mechanistic roles of in utero steroid hormones in autism etiology is accumulating but inconsistent. We conducted a systematic review using rigorous criteria for the measurements of steroids and vitamin D exposure, to summarize the potential contributing roles of prenatal and early postnatal steroids and vitamin D alterations to the emergence of autism. We searched PubMed, PsychInfo, Scopus, and included 22 studies for qualitative synthesis. Among them, six studies examined the association of autism diagnoses in offspring and levels of steroids and precursor steroid hormones in the fetal environment, eight studies examined the associations between autism and maternal and fetal blood vitamin D levels during pregnancy and at birth, and eight studies examined the associations between offspring autism diagnoses and maternal hyperandrogenemia diagnosed before pregnancy. We identified promising and complex results regarding the relations between steroid metabolism and autism. The interpretation of findings was limited by the mostly observational study designs, insufficient investigation of the effects of offspring sex, confounders and their cumulative effects on the development of the child, and unclear impact of the timing of steroids exposure and their effects on fetal neurodevelopment.
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Trastorno Autístico , Vitamina D , Niño , Embarazo , Recién Nacido , Masculino , Humanos , Femenino , Trastorno Autístico/etiología , Incidencia , Familia , Hormonas , Estudios Observacionales como AsuntoRESUMEN
In recent years, many psycho-educational technologies were studied to address the school-related difficulties encountered by students with autism spectrum disorder (ASD). However, most of them remain individual-centered and do not consider the social environment. To fill this gap, this study reports on the user-centered design of a web-based support tool, which aims to support communication and coordination between parents, school staff and health professionals of middle and high school students with ASD, in the context of elaborating, implementing, and following an Individualized Education Plan. The study followed a two-step design process: (1) a need analysis for identifying information domains deemed important by the stakeholders; (2) through a participative iterative design process, a panel of professionals and parents provided ideas and feedbacks on the design, which was integrated in subsequent prototype versions of the "ToGather" app. Supplementary Information: The online version contains supplementary material available at 10.1007/s11423-021-10073-w.
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BACKGROUND: Irritability is frequently comorbid with ADHD. Although irritability alone has been linked to deleterious mental health and adaptive issues, the joint developmental course of ADHD and irritability symptoms during childhood as well as its association with later mental health and suicidal outcomes is not fully understood. We aimed to describe the developmental trajectories of childhood ADHD and irritability symptoms and to quantify their association with adolescent mental health and suicidal outcomes. METHODS: The Quebec Longitudinal Study of Child Development (QLSCD) included 1407 participants from the general population followed up from age 5 months to 17 years. We used a multitrajectory approach to identify developmental trajectories of childhood (6-12 years) ADHD and irritability symptoms. Outcome measures were adolescent (13-17 years) mental health (psychiatric symptoms/functional impairment) and suicidal outcomes. RESULTS: We identified distinct developmental profiles: combined absent or very low ADHD and absent or very low irritability (940 [66.8%]; reference group), moderately high irritability and low ADHD (158 [11.2%]), moderately high ADHD and low irritability (198 [14.1%]), and combined high ADHD and high irritability (111 [7.9%]). Multivariate modeling showed that, compared to children in the reference group, those in the combined high ADHD and high irritability profile showed higher levels of ADHD continuity (d ranges = 0.40-0.50), externalizing (d ranges = 0.25-0.59), internalizing (d ranges = 0.20-0.29), and functional impairments (d ranges = 0.17-0.48) and suicidal behaviors (odds ratio (OR) = 2.12, confidence interval (CI) = 1.47-3.06) in adolescence. CONCLUSIONS: The presence of persistently high levels of irritability along with ADHD symptoms during childhood significantly predicts adolescent ADHD continuity, externalizing, internalizing, and suicidal outcomes. Systematic consideration of irritability when assessing and treating ADHD may improve long-term mental health outcomes.
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Trastorno por Déficit de Atención con Hiperactividad , Adolescente , Trastorno por Déficit de Atención con Hiperactividad/epidemiología , Niño , Humanos , Recién Nacido , Genio Irritable , Estudios Longitudinales , Salud Mental , Ideación SuicidaRESUMEN
Attention Deficit and Hyperactive Disorder (ADHD) and Autism Spectrum Disorders (ASD) are frequent comorbid neurodevelopmental conditions and the overlap between both disorders remains to be delineated. A more complete understanding of the shared genetic and environmental factors is needed. Using a family-based method, we evaluated the risk of ADHD in a group of relatives with an ASD proband (ASD-) and a group of relatives with an ASD and ADHD proband (ASD+). We enrolled 1245 individuals in the study: 499 probands, their 746 first-degree relatives and 140 controls. We used a multivariate generalized estimating equation (GEE) model, in which the dependent variable was the ADHD diagnosis in the relatives and the independent variable the ASD+ or ASD- in probands. We adjusted for sociodemographic factors (age, sex, IQ) and for the nature of the familial relationship with the affected proband (parent or sibling). Among the probands, there were 287 ASD- and 212 ASD+ individuals. ADHD was more frequent in relatives (19%) than in the control group (7%) (p = 0.001). The risk of ADHD was higher in the ASD+ relatives group than in the ASD- relatives group (GEE model OR 1.58 [95% CI 1.04-2.38], p = 0.032). This result was found in parents (OR 1.96 [95% CI 1.14-3.36], but not in siblings (OR 1.28 [95% CI 0.84-1.94], p = 0.434). Our study provides a representative estimate of the family distribution of ADHD in relatives of ASD probands but supports the modest effect of shared genetic and environmental factors between both disorders.
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Trastorno por Déficit de Atención con Hiperactividad/genética , Trastorno del Espectro Autista/genética , Predisposición Genética a la Enfermedad/genética , Adolescente , Adulto , Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Trastorno por Déficit de Atención con Hiperactividad/psicología , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/psicología , Estudios de Casos y Controles , Niño , Preescolar , Familia , Femenino , Humanos , Masculino , Persona de Mediana Edad , Padres , Hermanos/psicología , Adulto JovenRESUMEN
BACKGROUND: Evidence shows that diet contributes substantially to lifelong physical and mental health. Although dietary exposure during gestation and early postnatal life is critical, human epidemiological data are limited regarding its link with children's subsequent externalizing issues. The aim of this study was to investigate the role of maternal diet during pregnancy in offspring's symptoms of hyperactivity-inattention and conduct problems from ages 3 to 8 years. METHODS: We used data of 1,242 mother-child pairs from a French cohort followed up from pregnancy until the children were 8 years of age. Dietary patterns (DP) of the mother during pregnancy were assessed with food frequency questionnaires. Children's externalizing behavior was assessed with the Strength and Difficulties Questionnaire at ages 3, 5, and 8 years, from which trajectories of hyperactivity-inattention symptoms and conduct problems were derived. We conducted multivariable logistic models to study associations adjusted for a range of potential confounders. RESULTS: Results showed significant relationships between maternal 'low Healthy diet' (adjusted Odds Ratio (aOR) = 1.61; IC 95%: 1.09-2.37) and 'high Western diet' (aOR = 1.67; IC 95%: 1.13-2.47) during pregnancy and children's trajectories of high symptoms of hyperactivity-inattention. The associations took into account relevant confounders such as DP of the children at age 2 years, maternal stress and depression, gestational diabetes, and socioeconomic variables. CONCLUSIONS: Maternal diet during pregnancy was independently associated with children's hyperactivity-inattention symptoms but not with conduct problems. Early prevention addressing lifestyle should specifically target diet in pregnant women.
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Trastorno por Déficit de Atención con Hiperactividad/etiología , Trastorno de la Conducta/etiología , Dieta/efectos adversos , Efectos Tardíos de la Exposición Prenatal/etiología , Trastorno por Déficit de Atención con Hiperactividad/epidemiología , Niño , Preescolar , Trastorno de la Conducta/epidemiología , Dieta/estadística & datos numéricos , Dieta Saludable/estadística & datos numéricos , Dieta Occidental/efectos adversos , Dieta Occidental/estadística & datos numéricos , Femenino , Estudios de Seguimiento , Francia/epidemiología , Humanos , Masculino , Embarazo , Efectos Tardíos de la Exposición Prenatal/epidemiologíaRESUMEN
BACKGROUND: The impact of longitudinal psychiatric comorbidity, parenting and social characteristics on attention-deficit hyperactivity disorder (ADHD) medication use is still poorly understood. AIMS: To assess the baseline and longitudinal influences of behavioural and environmental factors on ADHD medication use. METHOD: Survival regressions with time-dependent covariates were used to model data from a population-based longitudinal birth cohort. The sample (n = 1920) was assessed from age 5 months to 10 years. Measures of children's psychiatric symptoms, parenting practices and social characteristics available at baseline and during follow-up were used to identify individual and family-level features associated with subsequent use of ADHD medication. RESULTS: Use of ADHD medication ranged from 0.2 to 8.6% between ages 3.5 to 10 years. Hyperactivity-inattention was the strongest predictor of medication use (hazard ratio (HR) = 2.75, 95% CI 2.35-3.22). Among all social variables examined, low maternal education increased the likelihood of medication use (HR = 2.09, 95% CI 1.38-3.18) whereas immigrant status lowered this likelihood (HR = 0.40, 95% CI 0.17-0.92). CONCLUSIONS: Beyond ADHD symptoms, the likelihood of receiving ADHD medication is predicted by social variables and not by psychiatric comorbidity or by parenting. This emphasises the need to improve global interventions by offering the same therapeutic opportunities (including medication) as those received by the rest of the population to some subgroups (i.e. immigrants) and by diminishing possible unnecessary prescriptions.
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Trastorno por Déficit de Atención con Hiperactividad/tratamiento farmacológico , Cooperación del Paciente/estadística & datos numéricos , Conducta Social , Medio Social , Niño , Preescolar , Femenino , Humanos , Lactante , Estudios Longitudinales , Masculino , Responsabilidad Parental , Factores de Riesgo , Encuestas y CuestionariosRESUMEN
OBJECTIVE: To assess the link between childhood attention problems (AP) and substance use 18 years later. STUDY DESIGN: This cohort study was conducted in a community sample of 1103 French youths followed from 1991 to 2009. Exposures and covariates were childhood behavioral problems (based on parental report at baseline), early substance use, school difficulties, and family adversity. Outcome measures were regular tobacco smoking, alcohol problems, problematic cannabis use, and lifetime cocaine use (based on youth reports at follow-up). RESULTS: Individuals with high levels of childhood AP had higher rates of substance use (regular tobacco smoking, alcohol problems, problematic cannabis use, and lifetime cocaine use). However, when taking into account other childhood behavioral problems, early substance use, school difficulties, and family adversity, childhood AP were related only to regular tobacco smoking and lifetime cocaine use. Early cannabis exposure was the strongest risk factor for all substance use problems. CONCLUSION: This longitudinal community-based study shows that, except for tobacco and cocaine, the association between childhood AP and substance use is confounded by a range of early risk factors. Early cannabis exposure plays a central role in later substance use.
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Trastorno por Déficit de Atención con Hiperactividad/complicaciones , Trastornos Relacionados con Sustancias/epidemiología , Trastornos Relacionados con Sustancias/etiología , Adolescente , Adulto , Factores de Edad , Niño , Preescolar , Estudios de Cohortes , Humanos , Factores de Riesgo , Adulto JovenRESUMEN
As an integral part of autism spectrum symptoms, sensory processing issues including both hypo and hyper sensory sensitivities. These sensory specificities may result from an excitation/inhibition imbalance with a poorly understood of their level of convergence with genetic alterations in GABA-ergic and glutamatergic pathways. In our study, we aimed to characterize the hypo/hyper-sensory profile among autistic individuals. We then explored its link with the burden of deleterious mutations in a subset of individuals with available whole-genome sequencing data. To characterize the hypo/hyper-sensory profile, the differential Short Sensory Profile (dSSP) was defined as a normalized and centralized hypo/hypersensitivity ratio from the Short Sensory Profile (SSP). Including 1136 participants (533 autistic individuals, 210 first-degree relatives, and 267 controls) from two independent study samples (PARIS and LEAP), we observed a statistically significant dSSP mean difference between autistic individuals and controls, driven mostly by a high dSSP variability, with an intermediated profile represented by relatives. Our genetic analysis tended to associate the dSSP and the hyposensitivity with mutations of the GABAergic pathway. The major limitation was the dSSP difficulty to discriminate subjects with a similar quantum of hypo- and hyper-sensory symptoms to those with no such symptoms, resulting both in a similar ratio score of 0. However, the dSSP could be a relevant clinical score, and combined with additional sensory descriptions, genetics and endophenotypic substrates, will improve the exploration of the underlying neurobiological mechanisms of sensory processing differences in autism spectrum.
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Trastorno del Espectro Autista , Trastorno Autístico , Trastornos Generalizados del Desarrollo Infantil , Niño , Humanos , Trastorno Autístico/genética , Trastorno del Espectro Autista/genética , Sensación , PercepciónRESUMEN
BACKGROUND: Repetitive and restricted behaviors and interests (RRBI) are core symptoms of autism with a complex entity and are commonly categorized into 'motor-driven' and 'cognitively driven'. RRBI symptomatology depends on the individual's clinical environment limiting the understanding of RRBI physiology, particularly their associated neuroanatomical structures. The complex RRBI heterogeneity needs to explore the whole RRBI spectrum by integrating the clinical context [autistic individuals, their relatives and typical developing (TD) individuals]. We hypothesized that different RRBI dimensions would emerge by exploring the whole spectrum of RRBI and that these dimensions are associated with neuroanatomical signatures-involving cortical and subcortical areas. METHOD: A sample of 792 individuals composed of 267 autistic subjects, their 370 first-degree relatives and 155 TD individuals was enrolled in the study. We assessed the whole patterns of RRBI in each individual by using the Repetitive Behavior Scale-Revised and the Yale-Brown Obsessive Compulsive Scale. We estimated brain volumes using MRI scanner for a subsample of the subjects (n = 152, 42 ASD, 89 relatives and 13 TD). We first investigated the dimensionality of RRBI by performing a principal component analysis on all items of these scales and included all the sampling population. We then explored the relationship between RRBI-derived factors with brain volumes using linear regression models. RESULTS: We identified 3 main factors (with 30.3% of the RRBI cumulative variance): Factor 1 (FA1, 12.7%) reflected mainly the 'motor-driven' RRBI symptoms; Factor 2 and 3 (respectively, 8.8% and 7.9%) gathered mainly Y-BOCS related items and represented the 'cognitively driven' RRBI symptoms. These three factors were significantly associated with the right/left putamen volumes but with opposite effects: FA1 was negatively associated with an increased volume of the right/left putamen conversely to FA2 and FA3 (all uncorrected p < 0.05). FA1 was negatively associated with the left amygdala (uncorrected p < 0.05), and FA2 was positively associated with the left parietal structure (uncorrected p = 0.001). CONCLUSION: Our results suggested 3 coherent RRBI dimensions involving the putamen commonly and other structures according to the RRBI dimension. The exploration of the putamen's integrative role in RSBI needs to be strengthened in further studies.
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Trastorno del Espectro Autista , Trastorno Autístico , Humanos , Trastorno Autístico/diagnóstico por imagen , Trastorno del Espectro Autista/diagnóstico , Neuroanatomía , Imagen por Resonancia Magnética , Análisis de Componente PrincipalRESUMEN
Autism spectrum disorder (ASD) are neurodevelopmental conditions characterised by deficits in social communication and interaction and repetitive behaviours. Maternal immune activation (MIA) during the mid-pregnancy is a known risk factor for ASD. Although reported in 15% of affected individuals, little is known about the specificity of their clinical profiles. Adaptive skills represent a holistic approach to a person's competencies and reflect specifically in ASD, their strengths and difficulties. In this study, we hypothesised that ASD individual with a history of MIA (MIA+) could be more severely socio-adaptively impaired than those without MIA during pregnancy (MIA-). To answer this question, we considered two independent cohorts of individuals with ASD (PARIS study and FACE ASD) screened for pregnancy history, and used supervised and unsupervised machine learning algorithms. We included 295 mother-child dyads with 14% of them with MIA+. We found that ASD-MIA+ individuals displayed more severe maladaptive behaviors, specifically in their socialization abilities. MIA+ directly influenced individual's socio-adaptive skills, independent of other covariates, including ASD severity. Interestingly, MIA+ affect persistently the socio-adaptive behavioral trajectories of individuals with ASD. The current study has a retrospective design with possible recall bias regarding the MIA event and, even if pooled from two cohorts, has a relatively small population. In addition, we were limited by the number of covariables available potentially impacted socio-adaptive behaviors. Larger prospective study with additional dimensions related to ASD is needed to confirm our results. Specific pathophysiological pathways may explain these clinical peculiarities of ASD- MIA+ individuals, and may open the way to new perspectives in deciphering the phenotypic complexity of ASD and for the development of specific immunomodulatory strategies.
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Trastorno del Espectro Autista , Efectos Tardíos de la Exposición Prenatal , Embarazo , Femenino , Humanos , Estudios Retrospectivos , Estudios Prospectivos , Adaptación PsicológicaRESUMEN
BACKGROUND: Attention-deficit hyperactivity disorder (ADHD) has been associated with socioeconomic difficulties later in life. Little research in this area has been based on longitudinal and community studies. AIMS: To examine the relationship between childhood attention problems and socioeconomic status 18 years later. METHOD: Using a French community sample of 1103 youths followed from 1991 to 2009, we tested associations between childhood attention problems and socioeconomic status between ages 22 and 35 years, adjusting for potential childhood and family confounders. RESULTS: Individuals with high levels of childhood attention problems were three times more likely to experience subsequent socioeconomic disadvantage than those with low levels of attention problems (odds ratio 3.44, 95% CI 1.72-6.92). This association remained statistically significant even after adjusting for childhood externalising problems, low family income, parental divorce and parental alcohol problems. CONCLUSIONS: This longitudinal community-based study shows an association between childhood attention problems and socioeconomic disadvantage in adulthood. Taking into account ADHD and associated difficulties could help reduce the long-term socioeconomic burden of the disorder.
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Trastorno por Déficit de Atención con Hiperactividad/epidemiología , Clase Social , Adulto , Preescolar , Escolaridad , Femenino , Estudios de Seguimiento , Francia/epidemiología , Humanos , Masculino , Persona de Mediana Edad , Análisis Multivariante , Adulto JovenRESUMEN
At its most basic level, the sense of self is built upon awareness of one's body and the face holds special significance as the individual's most important and distinctive physical feature. Multimodal sensory integration is pivotal to experiencing one's own body as a coherent visual "self" representation is formed and maintained by matching felt and observed sensorimotor experiences in the mirror. While difficulties in individual facial identity recognition and in both self-referential cognition and empathy are frequently reported in individuals with autism spectrum disorder (ASD), studying the effect of multimodal sensory stimulation in this population is of relevant interest. The present study investigates for the first time the specific effect on Interpersonal Multisensory Stimulation (IMS) on face self-recognition in a sample of 30 adults with (n = 15) and without (n = 15) ASD, matched on age and sex. The results demonstrate atypical self-face recognition and absence of IMS effects (enfacement illusion) in adults with ASD compared to controls, indicating that multisensory integration failed in updating cognitive representations of one's own face among persons with this disorder. The results are discussed in the light of other findings indicating alterations in body enfacement illusion and automatic imitation in ASD as well as in the context of the theories of procedural perception and multisensory integration alterations.
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(1) Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder that is highly associated with various somatic conditions that can be masked by the core symptoms of ASD and thus complicate the diagnosis. Identifying co-occurring somatic disorders is critical for providing effective healthcare and social services for ASD populations and influences their long-term outcomes. A systematic assessment of co-occurring somatic conditions is essential during this ASD diagnostic process. Therefore, this study aimed to identify the organization and content of the initial somatic assessment (ISA). (2) Methods: We conducted a systematic review of the clinical practice guidelines (CPG) for the ASD diagnostic process published between January 2005 and December 2019 in English and French and performed an appraisal following the Appraisal of Guidelines Research and Evaluation, second edition (AGREE-II). (3) Results: We selected 14 CPGs that were heterogeneous in quality, with methodological scores between 32.3 and 91.9. Clinical examinations are the first step in the ISA, and the participation of pediatric, neuropediatric, and genetic specialists was highly recommended by the majority of the CPGs. The recommendations included hearing screening tests (10/14), visual examinations (8/14), and systematic genetic investigations (4/14). The CPGs also described additional investigations that should be conducted based on numerous warning signs. (4) Conclusions: Screening for consensual international warning signs is necessary to perform a comprehensive and systematic ISA during the ASD diagnostic process. A "referral form" could be used to guide clinicians and improve the coordination process. This tool may reinforce epidemiological data on co-occurring somatic disorders in patients with ASD.
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Autism spectrum disorder (ASD) is a neurodevelopmental disorder, which affects 1 in 44 children and may cause severe disabilities. Besides socio-communicational difficulties and repetitive behaviors, ASD also presents as atypical sensorimotor function and pain reactivity. While chronic pain is a frequent co-morbidity in autism, pain management in this population is often insufficient because of difficulties in pain evaluation, worsening their prognosis and perhaps driving higher mortality rates. Previous observations have tended to oversimplify the experience of pain in autism as being insensitive to painful stimuli. Various findings in the past 15 years have challenged and complicated this dogma. However, a relatively small number of studies investigates the physiological correlates of pain reactivity in ASD. We explore the possibility that atypical pain perception in people with ASD is mediated by alterations in pain perception, transmission, expression and modulation, and through interactions between these processes. These complex interactions may account for the great variability and sometimes contradictory findings from the studies. A growing body of evidence is challenging the idea of alterations in pain processing in ASD due to a single factor, and calls for an integrative view. We propose a model of the pain cycle that includes the interplay between the molecular and neurophysiological pathways of pain processing and it conscious appraisal that may interfere with pain reactivity and coping in autism. The role of social factors in pain-induced response is also discussed. Pain assessment in clinical care is mostly based on subjective rather than objective measures. This review clarifies the strong need for a consistent methodology, and describes innovative tools to cope with the heterogeneity of pain expression in ASD, enabling individualized assessment. Multiple measures, including self-reporting, informant reporting, clinician-assessed, and purely physiological metrics may provide more consistent results. An integrative view on the regulation of the pain cycle offers a more robust framework to characterize the experience of pain in autism.
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The ability to recognize and express emotions from facial expressions are essential for successful social interactions. Facial Emotion Recognition (FER) and Facial Emotion Expressions (FEEs), both of which seem to be impaired in Autism Spectrum Disorders (ASD) and contribute to socio-communicative difficulties, participate in the diagnostic criteria for ASD. Only a few studies have focused on FEEs processing and the rare behavioral studies of FEEs in ASD have yielded mixed results. Here, we review studies comparing the production of FEEs between participants with ASD and non-ASD control subjects, with a particular focus on the use of automatic facial expression analysis software. A systematic literature search in accordance with the PRISMA statement identified 20 reports published up to August 2020 concerning the use of new technologies to evaluate both spontaneous and voluntary FEEs in participants with ASD. Overall, the results highlight the importance of considering socio-demographic factors and psychiatric co-morbidities which may explain the previous inconsistent findings, particularly regarding quantitative data on spontaneous facial expressions. There is also reported evidence for an inadequacy of FEEs in individuals with ASD in relation to expected emotion, with a lower quality and coordination of facial muscular movements. Spatial and kinematic approaches to characterizing the synchrony, symmetry and complexity of facial muscle movements thus offer clues to identifying and exploring promising new diagnostic targets. These findings have allowed hypothesizing that there may be mismatches between mental representations and the production of FEEs themselves in ASD. Such considerations are in line with the Facial Feedback Hypothesis deficit in ASD as part of the Broken Mirror Theory, with the results suggesting impairments of neural sensory-motor systems involved in processing emotional information and ensuring embodied representations of emotions, which are the basis of human empathy. In conclusion, new technologies are promising tools for evaluating the production of FEEs in individuals with ASD, and controlled studies involving larger samples of patients and where possible confounding factors are considered, should be conducted in order to better understand and counter the difficulties in global emotional processing in ASD.
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Repetitive behaviors (RB) represent a wide spectrum of symptoms ranging from sensory-motor stereotypies to complex cognitive rituals, frequently dichotomized as low- and high-order sub-groups of symptoms. Even though these subgroups are considered as phenomenologically distinct in autism spectrum disorder (ASD) and obsessive-compulsive disorder (OCD), brain imaging and genetic studies suggest that they have common mechanisms and pathways. This discrepancy may be explained by the frequent intellectual disability reported in ASD, which blurs the RB expressivity. Given the high heritability of RB, that is, the diversity of symptoms expressed in the relatives are dependent on those expressed in their probands, we hypothesize that if RB expressed in ASD or OCD are two distinct entities, then the RB expressed in relatives will also reflect these two dimensions. We thus conduct a linear discriminant analysis on RB in both the relatives of probands with ASD and OCD and subjects from the general population (n = 1023). The discriminant analysis results in a classification of 81.1% of the controls (p < 10-4 ), but poorly differentiated the ASD and OCD relatives (≈46%). The stepwise analysis reveals that five symptoms attributed to high-order RB and two related to low-order RB (including hypersensitivity) are the most discriminant. Our results support the idea that the difference of RB patterns in the relatives is mild compared with the distribution of symptoms in controls. Our findings reinforce the evidence of a common biological pattern of RB both in ASD and OCD but with minor differences, specific to each of these two neuro-developmental disorders. LAY SUMMARY: Repetitive behaviors (RB), a key symptom in the classification of both OCD and ASD, are phenomenologically considered as distinct in the two disorders, which is in contrast with brain imaging studies describing a common neural circuit. Intellectual disability, which is frequently associated with ASD, makes RB in ASD more difficult to understand as it affects the expression of the RB symptoms. To avoid this bias, we propose to consider the familial aggregation in ASD and OCD by exploring RB in the first-degree relatives of ASD and OCD. Our results highlight the existence of RB expressed in relatives compared to the general population, with a common pattern of symptoms in relatives of both ASD and OCD but also minor differences, specific to each of these two neuro-developmental disorders.
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Trastorno del Espectro Autista , Trastorno Obsesivo Compulsivo , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/genética , Cognición , Humanos , Trastorno Obsesivo Compulsivo/genéticaRESUMEN
BACKGROUND: Inhibitory control and attention processing atypicalities are implicated in various diseases, including autism spectrum disorders (ASD). These cognitive functions can be tested by using visually guided saccade-based paradigms in children, adolescents and adults to determine the time course of such disorders. METHODS: In this study, using Gap, Step, Overlap and Antisaccade tasks, we analyzed the oculomotor behavior of 82 children, teenagers and adults with high functioning ASD and their peer typically developing (TD) controls in a two-year follow-up study under the auspices of the InFoR-Autism project. Analysis of correlations between oculomotors task measurements and diagnostic assessment of attentional (ADHD-RS and ADHD comorbidity indices) and executive functioning (BRIEF scales) were conducted in order to evaluate their relationship with the oculomotor performance of participants with ASD. RESULTS: As indicated by the presence of a Gap and Overlap effects in all age groups, the oculomotor performances of ASD participants showed a preserved capability in overt attention switching. In contrast, the difference in performances of ASD participants in the Antisaccade task, compared to their TD peers, indicated an atypical development of inhibition and executive functions. From correlation analysis between our oculomotor data and ADHD comorbidity index, and scores of attention and executive function difficulties, our findings support the hypothesis that a specific dysfunction of inhibition skills occurs in ASD participants that is independent of the presence of ADHD comorbidity. LIMITATIONS: These include the relatively small sample size of the ASD group over the study's two-year period, the absence of an ADHD-only control group and the evaluation of a TD control group solely at the study's inception. CONCLUSIONS: Children and teenagers with ASD have greater difficulty in attention switching and inhibiting prepotent stimuli. Adults with ASD can overcome these difficulties, but, similar to teenagers and children with ASD, they make more erroneous and anticipatory saccades and display a greater trial-to-trial variability in all oculomotor tasks compared to their peers. Our results are indicative of a developmental delay in the maturation of executive and attentional functioning in ASD and of a specific impairment in inhibitory control.
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Trastorno por Déficit de Atención con Hiperactividad , Trastorno del Espectro Autista , Trastorno Autístico , Discapacidad Intelectual , Adolescente , Adulto , Niño , Movimientos Oculares , Estudios de Seguimiento , HumanosRESUMEN
Autism spectrum disorders (ASD) are heterogeneous and complex neurodevelopmental conditions that urgently need reliable and sensitive measures to inform diagnosis properly. The Reading the Mind in the Eyes Task (or Eyes Test from now on) is widely used for this purpose. A recent study showed that subcategories of items of the children version of the Eyes Test could be especially discriminative to distinguish ASD and control children. Here, we analyzed the performance on the Eyes Test of 30 high functioning (IQ > 70) adults with ASD and 29 controls from the InFoR cohort multicentric study, using a Generalized Linear Mixed Model. We found that valence and difficulty modulate the performance on the Eyes Test, with easy and positive items being the most discriminative to distinguish ASD and controls. In particular, we suggest this result might be actionable to discriminate ASD patients from controls in subgroups where their overall scores show less difference with controls. We propose for future research the computation of two additional indexes when using the Eyes Test: the first focusing on the easy and positive items (applying a threshold of 70% of correct responses for these items, above which people are at very low risk of having ASD) and the second focusing on the performance gain from difficult to easy items (with a progression of less than 15% showing high risk of having ASD). Our findings open the possibility for a major change in how the Eyes Test is used to inform diagnosis in ASD. LAY SUMMARY: The Eyes Test is used worldwide to inform autism spectrum disorders (ASD) diagnosis. We show here that ASD and neurotypical adults show the most difference in performance on subgroups of items: ASD adults do not improve as expected when comparing easy and difficult items, and they do not show an improvement for items displaying a positive feeling. We advise clinicians to focus on these comparisons to increase the property of the test to distinguish people with ASD from neurotypical adults.
Asunto(s)
Trastorno del Espectro Autista , Adulto , Trastorno del Espectro Autista/diagnóstico , Emociones , HumanosRESUMEN
Sexual health-risk behaviors in disruptive children are poorly understood. In a longitudinal population-based sample, event-time analyses showed that subjects with high levels of conduct disorder symptoms, particularly in combination with simultaneously high levels of hyperactivity-inattention symptoms, exhibited the highest risk for earlier sexual activity compared to controls, suggesting the need for prevention.