Autism with co-occurring epilepsy care pathway in Europe

Background: Autism and epilepsy often occur together. Epilepsy and other associated conditions have a substantial impact on the well-being of autistic people and their families, reduce quality of life and increase premature mortality. Despite this, there is a lack of studies investigating the care pathway of autistic children with co-occurring epilepsy in Europe. Methods: We analyzed the care pathway for autistic children with associated epilepsy in Italy, Spain and the UK from the perspective of caregivers (using a survey aimed at caregivers of autistic children 0-18 years old), the autistic community and professionals, in order to identify major barriers preventing caregivers and autistic children from receiving timely screening and treatment of possible co-occurring epilepsy. Results: Across all three countries, analysis of the current care pathway showed a lack of systematic screening of epilepsy in all autistic children, delayed treatment of epilepsy in autistic children after diagnosis, lack of treatment of co-occurring epilepsy and incorrect use of antiepileptic drugs. A major challenge is the lack of evidence-based harmonized guidelines for autism with co-occurring epilepsy in these countries. Conclusions: Our findings show both heterogeneity and major gaps in the care pathway for autism with associated epilepsy and the great efforts that caregivers must make for timely screening, diagnosis and adequate management of epilepsy in autistic children. We call for policy harmonization in Europe in order to improve the experiences and quality of life of autistic people and their families

Estudio de asociación entre conducta sedentaria y porcentaje de grasa corporal en preescolares de 3 a 5 años de la escuela San Valentín de Talca

64 p.El alto nivel de conducta sedentaria (CS) y grasa corporal (GC) son los principales factores de riesgo para la salud de los preescolares en la actualidad. Debido a esto, el objetivo principal de este estudio fue evidenciar si existe asociación entre la CS y %GC en preescolares de la escuela "San Valentín", Talca. Para esto, participaron de manera voluntaria 18 niños y 8 niñas de 3 a 5 años cuyos padres firmaron el consentimiento informado. Se midió el tiempo en CS por medio de encuestas, el estado nutricional y %GC con mediciones antropométricas y pliegues cutáneos. Resultando el promedio de tiempo en CS 7,9±3 hrs/día, sobrepasando la prevalencia para esta edad, y el tiempo en pantalla duplicó el valor recomendado. El 65,38% de los preescolares presentó sobrepeso, en cuanto al promedio de %GC fue 21,02 ±7,8 %; y pese a que el 96% de los sujetos pasan más de 5,5 horas en CS, se concluye que no existió asociación entre la CS y el %GC (p = 1). // ABSTRACT: High sedentary behavior (SB) and body fat mass (BFM) are the two principal health risk factors present in preschool children. The aim of this study was to evidence if association exists between SB and BFM % in preschoolers belonging to “San Valentín” School, from Talca. Subjecta were 18 boys and 8 girls from 3 to 5 years, who accepted voluntarily to participate and whose legal guardians previously signed informed consent. SB was measured through a survey and nutritional status and %BFM using anthropometric measurements and skin folds Mean results for SB were 7,9±3 hrs per day, exceeding prevalence values for this age group, meanwhile screen time doubled recommendations. 65,38% of preschool children were overweight, in regards to %BFM, mean resulted in 21,02±7,8%; and even though 96% of our subjects spent more than 5,5 hours in SB, the conclusion of the present study was that no association was found between SB and %BFM (p = 1)

Autism care pathway in Europe

BACKGROUND: Autism is a lifelong complex neurodevelopmental condition that affects brain development and behaviour with significant consequences for everyday life. Despite its personal, familial, and societal impact, Europe-wide harmonised guidelines are still lacking for early detection, diagnosis, and intervention, leading to an overall unsatisfactory autistic person and carer journey. METHODS: The care pathway for autistic children and adolescents was analysed in Italy, Spain and the UK from the perspective of carers (using a survey aimed at caregivers of autistic children 0-18 years old), the autistic community, and professionals in order to identify major barriers (treatment gaps) preventing carers from receiving information, support, and timely screening/diagnosis and intervention. RESULTS: Across all three countries, analysis of the current care pathway showed: long waits from the time carers raised their first concerns about a child's development and/or behaviour until screening and confirmed diagnosis; delayed or no access to intervention once a diagnosis was confirmed; limited information about autism and how to access early detection services; and deficient support for families throughout the journey. CONCLUSIONS: These findings call for policy harmonisation in Europe to shorten long wait times for diagnosis and intervention and therefore, improve autistic people and their families' journey experience and quality of life

Feasibility study of the National Autistic Society EarlyBird parent support programme

The EarlyBird programme is a group-based psychoeducation intervention for parents of young children with autism. Although it is widely used in the United Kingdom, the evidence base for the programme is very limited. Using a mixed method, non-randomised research design, we aimed to test (1) the acceptability of the research procedures (recruitment, retention, suitability of measures), (2) the parental acceptability of EarlyBird (attendance, views of the programme, perceived changes) and (3) the facilitator acceptability of EarlyBird (fidelity, views of the programme, perceived changes). Seventeen families with a 2- to 5-year-old autistic child and 10 EarlyBird facilitators took part. Pre- and post-intervention assessment included measures of the child’s autism characteristics, cognitive ability, adaptive behaviour, emotional and behavioural problems and parent-reported autism knowledge, parenting competence, stress and wellbeing. Semi-structured interviews were completed at post-intervention with parents and facilitators. For those involved in the study, the research procedures were generally acceptable, retention rates were high and the research protocol was administered as planned. Generally, positive views of the intervention were expressed by parents and facilitators. Although the uncontrolled, within-participant design does not allow us to test for efficacy, change in several outcome measures from pre- to post-intervention was in the expected direction. Difficulties were encountered with recruitment (opt-in to the groups was ~56% and opt-in to the research was 63%), and strategies to enhance recruitment need to be built into any future trial. These findings should be used to inform protocols for pragmatic, controlled trials of EarlyBird and other group-based interventions for parents with young autistic children

Modeling flexible behavior in childhood to adulthood shows age-dependent learning mechanisms and less optimal learning in autism in each age group

Flexible behavior is critical for everyday decision-making and has been implicated in restricted, repetitive behaviors (RRB) in autism spectrum disorder (ASD). However, how flexible behavior changes developmentally in ASD remains largely unknown. Here, we used a developmental approach and examined flexible behavior on a probabilistic reversal learning task in 572 children, adolescents and adults (ASD N=321; typical development, TD; N=251). Using computational modeling, we quantified latent variables that index mechanisms underlying perseveration and feedback sensitivity. We then assessed these variables in relation to diagnosis, developmental stage, core autism symptomatology and associated psychiatric symptoms. Autistic individuals showed on average more perseveration and less feedback sensitivity than TD individuals and, across cases and controls, older age groups showed more feedback sensitivity than younger age groups. Computational modeling revealed that dominant learning mechanisms underpinning flexible behavior differed across developmental stages and reduced flexible behavior in ASD was driven by less optimal learning on average within each age group. In autistic children, perseverative errors were positively related to anxiety symptoms, and in autistic adults, perseveration (indexed by both task errors and model parameters) was positively related to RRB. These findings provide novel insights into reduced flexible behavior in relation to clinical symptoms in ASD

Investigating the factors underlying adaptive functioning in autism in the EU-AIMS Longitudinal European Autism Project.

Individuals with autism spectrum disorder (ASD) exhibit significant impairments in adaptive functioning that impact on their ability to meet the demands of everyday life. A recurrent finding is that there is a pronounced discrepancy between level of cognitive ability and adaptive functioning, and this is particularly prominent among higher-ability individuals. However, the key clinical and demographic associations of these discrepancies remain unclear. This study included a sample of 417 children, adolescents, and adults with ASD as part of the EU-AIMS LEAP cohort. We examined how age, sex, IQ, levels of ASD symptom and autistic trait severity and psychiatric symptomatology are associated with adaptive functioning as measured by the Vineland Adaptive Behavior Scales-Second Edition and IQ-adaptive functioning discrepancies. Older age, lower IQ and higher social-communication symptoms were associated with lower adaptive functioning. Results also demonstrate that older age, higher IQ and higher social-communication symptoms are associated with greater IQ-adaptive functioning discrepancy scores. By contrast, sensory ASD symptoms, repetitive and restricted behaviors, as well as symptoms of attention deficit/hyperactivity disorder (ADHD), anxiety and depression, were not associated with adaptive functioning or IQ-adaptive functioning discrepancy scores. These findings suggest that it is the core social communication problems that define ASD that contribute to adaptive function impairments that people with ASD experience. They show for the first time that sensory symptoms, repetitive behavior and associated psychiatric symptoms do not independently contribute to adaptive function impairments. Individuals with ASD require supportive interventions across the lifespan that take account of social-communicative ASD symptom severity. Autism Res 2019, 12: 645-657. © 2019 The Authors. Autism Research published by International Society for Autism Research published by Wiley Periodicals, Inc. LAY SUMMARY: This study investigated key clinical and demographic associations of adaptive functioning impairments in individuals with autism. We found that older age, lower IQ and more severe social-communicative symptoms, but not sensory or repetitive symptoms or co-occurring psychiatric symptoms, are associated with lower adaptive functioning and greater ability-adaptive function discrepancies. This suggests that interventions targeting adaptive skills acquisition should be flexible in their timing and intensity across developmental periods, levels of cognitive ability and take account of social-communicative ASD symptom severity

Preference for biological motion is reduced in ASD: implications for clinical trials and the search for biomarkers.

BACKGROUND: The neurocognitive mechanisms underlying autism spectrum disorder (ASD) remain unclear. Progress has been largely hampered by small sample sizes, variable age ranges and resulting inconsistent findings. There is a pressing need for large definitive studies to delineate the nature and extent of key case/control differences to direct research towards fruitful areas for future investigation. Here we focus on perception of biological motion, a promising index of social brain function which may be altered in ASD. In a large sample ranging from childhood to adulthood, we assess whether biological motion preference differs in ASD compared to neurotypical participants (NT), how differences are modulated by age and sex and whether they are associated with dimensional variation in concurrent or later symptomatology. METHODS: Eye-tracking data were collected from 486 6-to-30-year-old autistic (N = 282) and non-autistic control (N = 204) participants whilst they viewed 28 trials pairing biological (BM) and control (non-biological, CTRL) motion. Preference for the biological motion stimulus was calculated as (1) proportion looking time difference (BM-CTRL) and (2) peak look duration difference (BM-CTRL). RESULTS: The ASD group showed a present but weaker preference for biological motion than the NT group. The nature of the control stimulus modulated preference for biological motion in both groups. Biological motion preference did not vary with age, gender, or concurrent or prospective social communicative skill within the ASD group, although a lack of clear preference for either stimulus was associated with higher social-communicative symptoms at baseline. LIMITATIONS: The paired visual preference we used may underestimate preference for a stimulus in younger and lower IQ individuals. Our ASD group had a lower average IQ by approximately seven points. 18% of our sample was not analysed for various technical and behavioural reasons. CONCLUSIONS: Biological motion preference elicits small-to-medium-sized case-control effects, but individual differences do not strongly relate to core social autism associated symptomatology. We interpret this as an autistic difference (as opposed to a deficit) likely manifest in social brain regions. The extent to which this is an innate difference present from birth and central to the autistic phenotype, or the consequence of a life lived with ASD, is unclear

The EU-AIMS Longitudinal European Autism Project (LEAP): design and methodologies to identify and validate stratification biomarkers for autism spectrum disorders.

BACKGROUND: The tremendous clinical and aetiological diversity among individuals with autism spectrum disorder (ASD) has been a major obstacle to the development of new treatments, as many may only be effective in particular subgroups. Precision medicine approaches aim to overcome this challenge by combining pathophysiologically based treatments with stratification biomarkers that predict which treatment may be most beneficial for particular individuals. However, so far, we have no single validated stratification biomarker for ASD. This may be due to the fact that most research studies primarily have focused on the identification of mean case-control differences, rather than within-group variability, and included small samples that were underpowered for stratification approaches. The EU-AIMS Longitudinal European Autism Project (LEAP) is to date the largest multi-centre, multi-disciplinary observational study worldwide that aims to identify and validate stratification biomarkers for ASD. METHODS: LEAP includes 437 children and adults with ASD and 300 individuals with typical development or mild intellectual disability. Using an accelerated longitudinal design, each participant is comprehensively characterised in terms of clinical symptoms, comorbidities, functional outcomes, neurocognitive profile, brain structure and function, biochemical markers and genomics. In addition, 51 twin-pairs (of which 36 had one sibling with ASD) are included to identify genetic and environmental factors in phenotypic variability. RESULTS: Here, we describe the demographic characteristics of the cohort, planned analytic stratification approaches, criteria and steps to validate candidate stratification markers, pre-registration procedures to increase transparency, standardisation and data robustness across all analyses, and share some 'lessons learnt'. A clinical characterisation of the cohort is given in the companion paper (Charman et al., accepted). CONCLUSION: We expect that LEAP will enable us to confirm, reject and refine current hypotheses of neurocognitive/neurobiological abnormalities, identify biologically and clinically meaningful ASD subgroups, and help us map phenotypic heterogeneity to different aetiologies