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Background: Most research on early outcomes in infants with a family history (FH) of autism has focussed on categorically defined autism, although some have language and developmental delays. Less is known about outcomes in infants with a FH of attention deficit hyperactivity disorder (ADHD). Methods: Infants with and without a FH of autism and/or ADHD, due to a first‐degree relative with either or both conditions, were recruited at 5 or 10 months. Three year outcomes were characterised using latent profile analysis (LPA) across measures of cognitive ability, adaptive functioning and autism, ADHD and anxiety traits (n = 131). We additionally ran an LPA using only autism and ADHD measures, and the broader LPA in an independent cohort (n = 139) and in both cohorts combined (n = 270). Results: A Low Developmental Level + High Behavioural Concerns class had elevated autism, ADHD and anxiety scores, low cognitive and adaptive function, and included all but one child with autism. A Low Developmental Level + Typical Behaviour class had average cognitive ability and typical behaviour but low adaptive function. A Typical Developmental Level + Some Behavioural Concerns class had average cognitive and adaptive function but slightly elevated behaviour scores. A High Developmental Level + Typical Behaviour class had above average cognitive ability and typical behaviour. All four LPAs identified classes characterised by combinations of either, or both, Low Development Level and elevated behaviour scores, as well as a typically developing class. No classes had elevated autism or ADHD traits in isolation. Conclusions: Some infants with a FH of autism or ADHD have atypical developmental and behavioural outcomes, but do not show strong autism or ADHD traits in isolation. The field needs to recalibrate aims and methods to embrace the broader transdiagnostic pattern of outcomes seen in these infants. [ABSTRACT FROM AUTHOR]

Theta oscillations (spectral power and connectivity) are sensitive to the social content of an experience in typically developing infants, providing a possible marker of early social brain development. Autism is a neurodevelopmental condition affecting early social behaviour, but links to underlying social brain function remain unclear. We explored whether modulations of theta spectral power and connectivity by naturalistic social content in infancy are related to family history for autism. Fourteen-month-old infants with (family history; FH; N = 75) and without (no family history; NFH; N = 26) a first-degree relative with autism watched social and non-social videos during EEG recording. We calculated theta (4–5 Hz) spectral power and connectivity modulations (social–non-social) and associated them with outcomes at 36 months. We replicated previous findings of increased theta power and connectivity during social compared to non-social videos. Theta modulations with social content were similar between groups, for both power and connectivity. Together, these findings suggest that neural responses to naturalistic social stimuli may not be strongly altered in 14-month-old infants with family history of autism. [ABSTRACT FROM AUTHOR]

Autistic young people experience high levels of co-occurring mental health difficulties, including anxiety, depression and behavioural difficulties, across their lifespan. Understanding the neuropsychological mechanisms which underlie these difficulties is vital in developing personalised supports and interventions. Cognitive inflexibility is one candidate mechanism which is associated with co-occurring mental health comorbidities but is also associated with other features of autism such as restricted and repetitive behaviours. This study investigates the distinct longitudinal association between cognitive inflexibility, measured using objective neuropsychological measures and emotional and behavioural problems across adolescence and early adulthood. Eighty-one autistic people from a population-based longitudinal study were assessed at 16 and 23 years on measures of emotional and behavioural problems, with cognitive inflexibility, restricted and repetitive behaviours and verbal intelligence quotient measured at 16 years. We used structural equation modelling to investigate the relationship between cognitive inflexibility and emotional and behavioural symptoms at both timepoints while accounting for the severity of restricted and repetitive behaviours and verbal intelligence quotient. Our results indicate an effect of cognitive inflexibility on increased behavioural problems at 16years and emotional problems across timepoints, which is distinct from restricted and repetitive behaviours and verbal intelligence quotient. Exploratory mediation analyses suggest that cognitive inflexibility may be one mechanism through which emotional difficulties are maintained longitudinally. [ABSTRACT FROM AUTHOR]

Objective: To examine the feasibility and preliminary efficacy of a group behavioral parenting intervention for emotional and behavioral problems (EBPs) in young autistic children.Method: This was a feasibility pilot randomized controlled trial comparing a 12-week group behavioral parenting intervention (Predictive Parenting) to an attention control (Psychoeducation). Parents of 62 autistic children 4 to 8 years of age were randomized to Predictive Parenting (n = 31) or Psychoeducation (n = 31). The primary outcome was a blinded observational measure of child behaviors that challenge. Secondary outcomes were observed child compliance and parenting behaviors; parent- and teacher-reported child EBPs; self-reported parenting practices, stress, self-efficacy, and well-being. Cost-effectiveness was also explored.Results: Recruitment, retention, completion of measures, treatment fidelity, and parental satisfaction were high for both interventions. There was no group difference in primary outcome: mean log of rate 0.18 lower (d, 90% CI = -0.44 to 0.08) in Predictive Parenting. Differences in rates of child compliance (0.44, 90% CI = 0.11 to 0.77), facilitative parenting (0.63, 90% CI = 0.33 to 0.92) and parent-defined target symptom change (-0.59, 90% CI -0.17 to -1.00) favored Predictive Parenting. There were no differences on other measures. Predictive Parenting was more expensive than Psychoeducation, with a low probability of being more cost-effective.Conclusion: Feasibility was demonstrated. There was no evidence from this pilot trial that Predictive Parenting resulted in reductions in child EBPs beyond those seen following Psychoeducation; in addition, the effect size was small, and it was more expensive. However, it showed superiority for child compliance and facilitative parenting with moderate effect sizes. Future, definitive studies should evaluate whether augmented or extended intervention would lead to larger improvements.Clinical Trial Registration Information: Autism Spectrum Treatment and Resilience (ASTAR); https://www.isrctn.com/; 91411078. [ABSTRACT FROM AUTHOR]

The aim of this study was to explore the associations between temperamental reactivity and regulation and the emergence of anxiety traits in a longitudinal sample of infants enriched for later ASD. Parents of 143 infants who were at high- and low-risk for ASD rated their child's temperament traits when they were 9, 15 and 24 months old; they rated anxiety and ASD traits when they were 36 months old. The findings suggest that behavioural inhibition may be an early predictor of later anxiety in children with and without ASD and that lower levels of effortful control in children who later develop ASD may contribute to the higher expression of anxiety within this population. [ABSTRACT FROM AUTHOR]

We present the Anterior Modifiers in the Emergence of Neurodevelopmental Disorders (AMEND) framework, designed to reframe the field of prospective studies of neurodevelopmental disorders. In AMEND we propose conceptual, statistical and methodological approaches to separating markers of early‐stage perturbations from later developmental modifiers. We describe the evidence for, and features of, these interacting components before outlining analytical approaches to studying how different profiles of early perturbations and later modifiers interact to produce phenotypic outcomes. We suggest this approach could both advance our theoretical understanding and clinical approach to the emergence of developmental psychopathology in early childhood. [ABSTRACT FROM AUTHOR]

We investigated infant's manual motor behaviour; specifically behaviours crossing the body midline. Infants at elevated likelihood of Autism Spectrum Disorder (ASD) and/or Attention Deficit Hyperactivity Disorder (ADHD) produced fewer manual behaviours that cross the midline compared to infants with a typical likelihood of developing these disorders; however this effect was limited to 10-month-olds and not apparent at age 5 and 14 months. Although, midline crossing did not predict ASD traits, it was related to ADHD traits at 2 years of age. We rule out motor ability and hand dominance as possible explanations for this pattern of behaviour, positing that these results may be a consequence of multisensory integration abilities, and the neurobehavioural shift period, in the first year of life. [ABSTRACT FROM AUTHOR]

We investigated the early sociocognitive battery (ESB), a novel measure of preverbal social communication skills, in children with autism participating in the Paediatric Autism Communication Trial-Generalised (PACT-G). The associations between ESB scores, language and autism symptoms were assessed in 249 children aged 2–11 years. The results show that ESB subscale scores (social responsiveness, joint attention and symbolic comprehension) were significantly associated with concurrent autism symptoms and receptive and expressive language levels. The pattern of association between the ESB subscale scores differed between the ADOS-2 symptom domains and expressive and receptive language. These findings indicate the potential utility of the ESB as a measure of preverbal social communication in children with autism. [ABSTRACT FROM AUTHOR]

Background: Social camouflaging (hereafter camouflaging) in autism includes factors such as masking and compensating for one's neurodevelopmental differences, and to assimilate or 'fit in' with non‐autistic peers. Efforts to hide one's authentic self and autism traits (masking) resemble impression management (IM) in safety behaviours identified in Clark and Wells' (1995) cognitive model of social anxiety (SA). This study explores the relationship between camouflaging in autism and safety behaviours in SA among autistic and non‐autistic adolescents. Methods: One hundred fifteen adolescents (14–19 years) with (n = 61; 36 female) and without (n = 54; 37 female) a clinical diagnosis of autism matched on age and SA symptom severity were recruited from clinics, schools and online. Adolescents completed online measures including autism traits, SA symptoms, camouflaging behaviours, SA‐related safety behaviours and SA‐related negative cognitions. Partial and bivariate Pearson's correlations and structural equation modelling were used to understand the relationship between camouflaging, safety behaviours, autism traits and SA in both groups. Exploratory factor analysis assessed item‐level factor cross‐loadings between camouflaging and safety behaviours. Results: Across both groups, masking and IM were significantly associated with SA symptom severity, not autism traits, via SA‐related social cognitions. Exploratory factor analysis indicated construct overlap across masking, assimilation, IM and avoidance behaviours and identified factors analogous to self‐focused attention, social avoidance and mental rehearsal identified in the Clark and Wells' (1995) model of SA. Conclusions: This is the first study using group‐matched design to identify that masking (factor in social camouflaging) and IM both relate to SA in autistic and non‐autistic adolescents. Assessment and formulation of construct overlap between masking and IM may inform psychoeducation and adaptation of SA treatment for autistic adolescents. [ABSTRACT FROM AUTHOR]

Background: There are very few mechanistic studies of the long‐term impact of psychosocial interventions in childhood. The parent‐mediated Paediatric Autism Communication Therapy (PACT) RCT showed sustained effects on autistic child outcomes from pre‐school to mid‐childhood. We investigated the mechanism by which the PACT intervention achieved these effects. Methods: Of 152 children randomised to receive PACT or treatment as usual between 2 and 5 years of age, 121 (79.6%) were followed 5–6 years after the endpoint at a mean age of 10.5 years. Assessors, blind to the intervention group, measured Autism Diagnostic Observation Scale Calibrated Severity Score (ADOS CSS) for child autistic behaviours and Teacher Vineland (TVABS) for adaptive behaviour in school. Hypothesised mediators were child communication initiations with caregivers in a standard play observation (Dyadic Communication Measure for Autism, DCMA). Hypothesised moderators of mediation were baseline child non‐verbal age equivalent scores (AE), communication and symbolic development (CSBS) and 'insistence on sameness' (IS). Structural equation modelling was used in a repeated measures mediation design. Results: Good model fits were obtained. The treatment effect on child dyadic initiation with the caregiver was sustained through the follow‐up period. Increased child initiation at treatment midpoint mediated the majority (73%) of the treatment effect on follow‐up ADOS CSS. A combination of partial mediation from midpoint child initiations and the direct effect of treatment also contributed to a near‐significant total effect on follow‐up TVABS. No moderation of this mediation was found for AE, CSBS or IS. Conclusions: Early sustained increase in an autistic child's communication initiation with their caregiver is largely responsible for the long‐term effects from PACT therapy on autistic and adaptive behaviour outcomes. This supports the theoretical logic model of PACT therapy but also illuminates fundamental causal processes of social and adaptive development in autism over time: early social engagement in autism can be improved and this can have long‐term generalised outcome effects. [ABSTRACT FROM AUTHOR]

• Retrospective research has not provided clear answers on regression as ASD subtype. • The historic division between early onset and regression is insufficient. • Retrospective results on etiology, early development and outcomes are mixed. • Research on onset patterns needs to be more systematic in definitions and methods. • The combination of a categorical and dimensional approach provides a new framework. Historically, two onset patterns in autism spectrum disorder (ASD) were described: early onset of symptoms and regression in which one-third appear to show a loss of previously established skills in the second year of life. Since this phenomenon could represent a distinct ASD subtype and provide more insight into the etiology, diagnosis, and prognosis, many studies have compared these two groups. The present review discusses definitions, etiology, and methods used in research with a retrospective design and provides an overview of the results on early development and outcomes. However, retrospective research has not provided clear answers on regression as a distinct subtype of ASD and the historic division between early onset and regression does not seem to fit the empirical findings. Based on inconsistent results, future research on onset patterns in ASD needs to be more systematic on the definitions and methods used. Several recommendations to enhance the reliability of future retrospective results are discussed. The combination of a categorical and dimensional approach provides a new interesting framework. [ABSTRACT FROM AUTHOR]

Abstract: Superior visual search is one of the most common findings in the autism spectrum disorder (ASD) literature. Here, we ascertain how generalizable these findings are across task and participant characteristics, in light of recent replication failures. We tested 106 3‐year‐old children at familial risk for ASD, a sample that presents high ASD and ADHD symptoms, and 25 control participants, in three multi‐target search conditions: easy exemplar search (look for cats amongst artefacts), difficult exemplar search (look for dogs amongst chairs/tables perceptually similar to dogs), and categorical search (look for animals amongst artefacts). Performance was related to dimensional measures of ASD and ADHD, in agreement with current research domain criteria (RDoC). We found that ASD symptom severity did not associate with enhanced performance in search, but did associate with poorer categorical search in particular, consistent with literature describing impairments in categorical knowledge in ASD. Furthermore, ASD and ADHD symptoms were both associated with more disorganized search paths across all conditions. Thus, ASD traits do not always convey an advantage in visual search; on the contrary, ASD traits may be associated with difficulties in search depending upon the nature of the stimuli (e.g., exemplar vs. categorical search) and the presence of co‐occurring symptoms. [ABSTRACT FROM AUTHOR]

Despite a slow start,1 the past 15 years has seen an unprecedented increase in the number and quality of randomized controlled trials (RCTs) being conducted in the early autism field. This is welcome, because many young children with autism struggle to communicate and interact with others, restricting their opportunities to learn and develop, and impacting on their parents who can find their child's behavior perplexing and challenging to manage. However, as with so many areas of clinical science, with progress come challenges. Rogers et al.2 report on a multi-site RCT of the Early Start Denver Model (ESDM), an intensive, naturalistic developmental-behavioural intervention program. The original small-scale (n = 48) ESDM study3 found improvements in IQ and adaptive behavior (on both measures largely in the language/communication domains) and a marginal improvement in diagnostic classification but no differences on continuous measures of autism severity. The study is highly cited and has been influential as a key part of the evidence for proponents arguing for the effectiveness of comprehensive early intervention programs. [ABSTRACT FROM AUTHOR]

Adaptive functioning of autistic children is traditionally measured through informant-report, often from parents. Behaviour varies across settings though, and context-specific reports should be considered. Limited and inconsistent results show low parent-education professional concordance, but no research has yet explored item level response variation. We investigated Vineland Adaptive Behaviour Scales-II concordance using 233 lower ability autistic children from the PACT-G sample. Domain and item level agreement was low, but better on objectively measured behaviours. Higher child nonverbal ability improved concordance. Where disagreements occurred, education professionals identified emergent skills more and parents were more likely to rate present/absent. Parents and education professionals view the adaptive abilities of autistic children differently and both should be considered when developing personalised interventions and support. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Background: The EU-AIMS Longitudinal European Autism Project (LEAP) is to date the largest multi-centre, multidisciplinary observational study on biomarkers for autism spectrum disorder (ASD). The current paper describes the clinical characteristics of the LEAP cohort and examines age, sex and IQ differences in ASD core symptoms and common co-occurring psychiatric symptoms. A companion paper describes the overall design and experimental protocol and outlines the strategy to identify stratification biomarkers. Methods: From six research centres in four European countries, we recruited 437 children and adults with ASD and 300 controls between the ages of 6 and 30 years with IQs varying between 50 and 148. We conducted in-depth clinical characterisation including a wide range of observational, interview and questionnaire measures of the ASD phenotype, as well as co-occurring psychiatric symptoms. Results: The cohort showed heterogeneity in ASD symptom presentation, with only minimal to moderate site differences on core clinical and cognitive measures. On both parent-report interview and questionnaire measures, ASD symptom severity was lower in adults compared to children and adolescents. The precise pattern of differences varied across measures, but there was some evidence of both lower social symptoms and lower repetitive behaviour severity in adults. Males had higher ASD symptom scores than females on clinician-rated and parent interview diagnostic measures but not on parent-reported dimensional measures of ASD symptoms. In contrast, self-reported ASD symptom severity was higher in adults compared to adolescents, and in adult females compared to males. Higher scores on ASD symptom measures were moderately associated with lower IQ. Both inattentive and hyperactive/impulsive ADHD symptoms were lower in adults than in children and adolescents, and males with ASD had higher levels of inattentive and hyperactive/impulsive ADHD symptoms than females. Conclusions: The established phenotypic heterogeneity in ASD is well captured in the LEAP cohort. Variation both in core ASD symptom severity and in commonly co-occurring psychiatric symptoms were systematically associated with sex, age and IQ. The pattern of ASD symptom differences with age and sex also varied by whether these were clinician ratings or parent- or self-reported which has important implications for establishing stratification biomarkers and for their potential use as outcome measures in clinical trials. [ABSTRACT FROM AUTHOR]

Aim: The aim of this study was to test the accuracy of two screening instruments in UK Community health services: Modified Checklist for Autism in Toddlers (M-CHAT) and Social Communication Questionnaire (SCQ) for autism spectrum disorder (ASD). A two-stage screening and in-depth assessment procedure, combined with sampling stratification and statistical weighting, allowed the accuracy of the screens to be estimated in the entire population of referred children.Method: The study included all referrals of children aged 18 to 48 months to community paediatric and speech and language therapy services in two London districts over a 12-month period between September 2004 and September 2005. Parents of 808 children were approached; screen data were obtained on 543 children (67.2%). A stratified subsample of 120 children received an in-depth assessment for ASD as defined by the International Statistical Classification of Diseases and Related Health Problems, 10th edition. Community clinician judgement of likely ASD was available for 98 out of the 120 children.Results: The sensitivity and specificity were 64% (95% confidence intervals; range 51-80%) and 75% (63-85%) for the SCQ, and 82% (72-92%) and 50% (33-64%) for M-CHAT. There was no evidence that the area under the curve differed between the two screening instruments. There was also no evidence that clinician judgement of likely ASD differed from either of the screening tests. The screening tests did not perform well to confirm preliminary clinical judgement to refer (in series), nor as an alternative indicator for referral (in parallel).Interpretation: While screening tests may provide useful information, their accuracy is moderate. Screening information in isolation should not be used to make referral decisions regarding specialized ASD assessment. [ABSTRACT FROM AUTHOR]

Recent discoveries about the pathogenesis and symptom structure of autism spectrum disorders (ASDs) are challenging traditional nosology and driving efforts to reconceptualise the diagnosis of autism, a goal made all the more pressing by new prospects for early identification, targeted intervention, and personalised-medicine approaches to specific autistic syndromes. Recognition that ASD represents the severe end of a continuous distribution of social communication abilities in the general population has stimulated attempts to standardise the measurement of autistic traits and to set appropriate clinical thresholds for diagnosis. Over the next decade, rapid advances in our understanding of symptom structure and the diversity of causes of ASD could be incorporated into the next evolution in the diagnosis of autism, with important implications for research, clinical practice, public health, and policy. As differential effects of personalised therapies are identified in relation to specific causes of autism, the benefits of an updated diagnostic nosology will translate into the delivery of more effective care for patients. [ABSTRACT FROM AUTHOR]

Unlabelled: This study examined the prevalence and correlates of use of complementary and alternative medicine (CAM) among a sample of children with autism spectrum disorder (ASD) < 7 years in 18 European countries (N = 1,680). Forty-seven percent of parents reported having tried any CAM approach in the past 6 months. Diets and supplements were used by 25 % of the sample and mind-body practices by 24 %; other unconventional approaches were used by 25 % of the families, and a minority of parents reported having tried any invasive or potentially harmful approach (2 %). Parents in Eastern Europe reported significantly higher rates of CAM use. In the total sample, children with lower verbal ability and children using prescribed medications were more likely to be receiving diets or supplements. Concurrent use of high levels of conventional psychosocial intervention was significantly associated with use of mind-body practices. Higher parental educational level also increased the likelihood of both use of diets and supplements and use of mind-body practices.Conclusion: The high prevalence of CAM use among a sample of young children with ASD is an indication that parents need to be supported in the choice of treatments early on in the assessment process, particularly in some parts of Europe.What Is Known: • Use of complementary and alternative medicine (CAM) in children with autism spectrum disorder is common. • In non-EU samples, parents with higher educational level and parents of low functioning children are more likely to use CAM with their children. What is New: • This study provides the first data on prevalence and correlates of use of CAM approaches in a large sample of young children with autism in Europe (N = 1,680). • Rates of CAM use were particularly high in Eastern Europe and correlates of use varied by type of CAM across Europe. [ABSTRACT FROM AUTHOR]

Autism spectrum conditions (ASC) and attention-deficit/hyperactivity disorder (ADHD) regularly co-occur. Twin studies increasingly indicate that these conditions may have overlapping genetic causes. Less is known about the degree to which specific autistic traits relate to specific behaviours characteristic of ADHD. We hence tested, using the classical twin design, whether specific dimensional autistic traits, including social difficulties, communication atypicalities and repetitive behaviours, would display differential degrees of aetiological overlap with specific traits of ADHD, including hyperactivity/impulsivity and inattention. Parents of approximately 4,000 pairs of 12-year-old twins completed the Childhood Autism Spectrum Test and Conners' Parent Rating Scale. These measures were divided into subscales corresponding to different types of autistic and ADHD behaviours. Twin model fitting suggested that the degree of genetic overlap was particularly strong between communication difficulties and traits of ADHD (genetic correlations = .47−.51), while repetitive behaviours and social difficulties showed moderate (genetic correlations = .12−.33) and modest (.05−.11) genetic overlap respectively. Environmental overlap was low across all subscales (correlations = .01−.23). These patterns were also apparent at the extremes of the general population, with communication difficulties showing the highest genetic overlap with traits of ADHD. These findings indicate that molecular genetic studies seeking to uncover the shared genetic basis of ASC and ADHD would benefit from taking a symptom-specific approach. Furthermore, they could also help to explain why studies of the communication abilities of individuals with ASC and ADHD have produced overlapping findings. [ABSTRACT FROM AUTHOR]

Co-regulation of physiological arousal within the caregiver–child dyad precedes later self-regulation within the individual. Despite the importance of unimpaired self-regulatory development for later adjustment outcomes, little is understood about how early co-regulatory processes can become dysregulated during early life. Aspects of caregiver behavior, such as patterns of anxious speech, may be one factor influencing infant arousal dysregulation. To address this, we made day-long, naturalistic biobehavioral recordings in home settings in caregiver–infant dyads using wearable autonomic devices and miniature microphones. We examined the association between arousal, vocalization intensity, and caregiver anxiety. We found that moments of high physiological arousal in infants were more likely to be accompanied by high caregiver arousal when caregivers had high self-reported trait anxiety. Anxious caregivers were also more likely to vocalize intensely at states of high arousal and produce intense vocalizations that occurred in clusters. High-intensity vocalizations were associated with more sustained increases in autonomic arousal for both anxious caregivers and their infants. Findings indicate that caregiver vocal behavior differs in anxious parents, cooccurs with dyadic arousal dysregulation, and could contribute to physiological arousal transmission. Implications for caregiver vocalization as an intervention target are discussed. [ABSTRACT FROM AUTHOR]

Contrasting reports of reduced and intact sensitivity to coherent motion in autistic individuals may be attributable to stimulus parameters. Here, we investigated whether dot lifetime contributes to elevated thresholds in children with autism. We presented a standard motion coherence task to 31 children with autism and 31 typical children, with both limited and unlimited lifetime conditions. Overall, children had higher thresholds in the limited lifetime condition than in the unlimited lifetime condition. However, children with autism were affected by this manipulation to the same extent as typical children and were equally sensitive to coherent motion. Our results suggest that dot lifetime is not a critical stimulus parameter and speak against pervasive difficulties in coherent motion perception in children with autism. [ABSTRACT FROM AUTHOR]

Background Although it is well-established that children with language impairment (LI) and children with autism spectrum disorders (ASD) both show elevated levels of emotional and behavioural problems, the level and types of difficulties across the two groups have not previously been directly compared. Aims To compare levels of emotional and behavioural problems in children with LI and children with ASD recruited from the same mainstream schools. Methods & Procedures We measured teacher-reported emotional and behavioural problems using the Strengths and Difficulties Questionnaire (SDQ) in a sample of 5-13-year-old children with LI ( N = 62) and children with ASD ( N = 42) attending mainstream school but with identified special educational needs. Outcomes & Results Both groups showed similarly elevated levels of emotional, conduct and hyperactivity problems. The only differences between the LI and ASD groups were on subscales assessing peer problems (which were higher in the ASD group) and prosocial behaviours (which were higher in the LI group). Overall, there were few associations between emotional and behavioural problems and child characteristics, reflecting the pervasive nature of these difficulties in children with LI and children with ASD, although levels of problems were higher in children with ASD with lower language ability. However, in the ASD group only, a measure of family social economic status was associated with language ability and attenuated the association between language ability and emotional and behavioural problems. Conclusions & Implications Children with LI and children with ASD in mainstream school show similarly elevated levels of emotional and behavioural problems, which require monitoring and may benefit from intervention. Further work is required to identify the child, family and situational factors that place children with LI and children with ASD at risk of emotional and behavioural problems, and whether these differ between the two groups. This work can then guide the application of evidence-based interventions to these children. [ABSTRACT FROM AUTHOR]

This is an important study for several reasons and shows a positive way forward for the design, execution, and analysis of intervention trials in the autism field. Brookman-Frazee et al.1 present a novel analysis demonstrating that their community training program, An Individualized Mental Health Intervention (AIM HI), which has been shown to improve behaviors that challenge in young children with autism,2 also leads to improvements in parental sense of competence (but not caregiver strain). This is in line with a limited number of other recent studies that have addressed the same issue.3,4 The present report adds to our knowledge in at least 2 important ways; both investigating the mechanisms of how these outcomes might come about. First, the study demonstrates that implementation of the training during the period of intervention, specifically, continuity across treatment sessions and the effectiveness with which a therapist pursued teaching a caregiver skill, mediated improvements in parental sense of competence at the end of treatment. Of note, these process or fidelity implementation ratings were blind coded by naïve raters trained to reliability on video-recorded sessions, an example of the high-quality methodology valued by expert trialists. Second, the authors not only show that changes in parental sense of competence during the intervention are associated with reductions in child behaviors that challenge at the end of the treatment period, they also conducted a formal mediation analysis that further demonstrates that changes in parental sense of competence during the treatment period are related to improvements in child outcomes at 12 and 18 months, long after the intervention period itself. There have long been calls highlighting the value of such mechanistic analysis to get "maximum value" from the precious resource of intervention trials,5 but these have only rarely been taken up in the autism intervention field.6. [ABSTRACT FROM AUTHOR]

The recent Diagnostic and Statistical Manual of Mental Disorders–Fifth Edition (DSM-5) reformulation of autism spectrum disorder has received empirical support from North American and UK samples. Autism spectrum disorder is an increasingly global diagnosis, and research is needed to discover how well it generalises beyond North America and the United Kingdom. We tested the applicability of the DSM-5 model to a sample of Finnish young people with autism spectrum disorder (n = 130) or the broader autism phenotype (n = 110). Confirmatory factor analysis tested the DSM-5 model in Finland and compared the fit of this model between Finnish and UK participants (autism spectrum disorder, n = 488; broader autism phenotype, n = 220). In both countries, autistic symptoms were measured using the Developmental, Diagnostic and Dimensional Interview. Replicating findings from English-speaking samples, the DSM-5 model fitted well in Finnish autism spectrum disorder participants, outperforming a Diagnostic and Statistical Manual of Mental Disorders–Fourth Edition (DSM-IV) model. The DSM-5 model fitted equally well in Finnish and UK autism spectrum disorder samples. Among broader autism phenotype participants, this model fitted well in the United Kingdom but poorly in Finland, suggesting that cross-cultural variability may be greatest for milder autistic characteristics. We encourage researchers with data from other cultures to emulate our methodological approach, to map any cultural variability in the manifestation of autism spectrum disorder and the broader autism phenotype. This would be especially valuable given the ongoing revision of the International Classification of Diseases–11th Edition, the most global of the diagnostic manuals. [ABSTRACT FROM PUBLISHER]

While the last 10 years have seen a significant increase in research published on early intervention and autism, there is a persistent disconnect between educational research and practice. Governments have invested significant funds in autism education, and a range of approaches have been implemented in schools, but there is limited research exploring whether these educational strategies are effective and a lack of involvement of teaching professionals in the research. Given that the majority of children and young people with autism spend most of their time in school and not in early or specialised intervention programmes, there is a compelling need to conduct better educational research and implement educational interventions in schools. We argue that building collaborative partnerships between researchers and school practitioners is central to achieving improved understanding of, and outcomes for, pupils on the autism spectrum. This commentary offers perspectives from teachers about their experiences of, and priorities for, research, and also presents a model of collaboration between autism school practitioners and researchers, which could support a more integrated approach to research. We reflect on the strengths and challenges of this as well as outcomes achieved so far. [ABSTRACT FROM AUTHOR]

Background and Scope Significant progress has been made over the past two decades in the development of screening and diagnostic instruments for autism spectrum disorders ( ASDs). This article reviews this progress, including recent innovations, focussing on those instruments for which the strongest research data on validity exists, and then addresses issues arising from their use in clinical settings. Findings Research studies have evaluated the ability of screens to prospectively identify cases of ASD in population-based and clinically referred samples, as well as the accuracy of diagnostic instruments to map onto 'gold standard' clinical best estimate diagnosis. However, extension of the findings to clinical services must be done with caution, with a full understanding that instrument properties are sample-specific. Furthermore, we are limited by the lack of a true test for ASD which remains a behaviourally defined disorder. In addition, screening and diagnostic instruments help clinicians least in the cases where they are most in want of direction, as their accuracy will always be lower for marginal cases. Conclusion Instruments help clinicians to collect detailed, structured information and increase accuracy and reliability of referral for in-depth assessment and recommendations for support, but further research is needed to refine their effective use in clinical settings. [ABSTRACT FROM AUTHOR]

The authors discuss scientific research into the causes and treatment of autism spectrum disorders (ASD), focusing on translating scientific research into clinical practices and outcomes for psychiatrists and psychologists. Topics discussed include fragile X syndrome, long-term developmental issues related to ASD, and the effectiveness of early intervention.

The article presents a case study evaluation of proposed diagnosis criteria for autism spectrum disorder in the pending 5th edition publication of the American Psychiatric Association's "Diagnostic and Statistical Manual of Mental Disorders" (DSM-5). A confirmatory factor analysis is offered for a sample set of 708 children with mild to severe autistic symptoms. The validity of the DSM-5 paradigm is affirmed over the system of the 4th edition.

The article discusses a study which investigated the efficacy of early interventions for social communication in the treatment of autism in children in a larger trial. The study involved 152 children with core autism who were assigned to a parent-mediated communication-focused intervention or treatment at several specialist centres in Great Britain. The researchers did not recommend the inclusion of Preschool Autism Communication Trial (PACT) intervention to treatment for the reduction of autism symptoms.

Autism is one of the most heritable neurodevelopmental conditions and has an early onset, with symptoms being required to be present in the first 3 years of life in order to meet criteria for the ‘core’ disorder in the classification systems. As such, the focus on identifying a prodrome over the past 20 years has been on pre-clinical signs or indicators that will be present very early in life, certainly in infancy. A number of novel lines of investigation have been used to this end, including retrospective coding of home videos, prospective population screening and ‘high risk’ sibling studies; as well as the investigation of pre- and peri-natal, brain developmental and other biological factors. While no single prodromal sign is expected to be present in all cases, a picture is emerging of indicative prodromal signs in infancy and initial studies are being undertaken to attempt to ameliorate early presentation and even ‘prevent’ emergence of the full syndrome. [ABSTRACT FROM AUTHOR]

Mandy and Lai (2015) do the field a service in 'reclaiming' the role of pre- and postnatal environmental influences on the aetiology and course of autism spectrum conditions ( ASC). This follows several decades where now discredited theories about putative psychogenic and biological disease models held sway, not least in the public mind. We discuss issues that arise from their review; including the need to identify how large the environmental influences on ASC are likely to be; the specificity of these environmental influences to ASC as opposed to a broader range of neurodevelopmental conditions and outcomes; how best to study complex interactions between genetic and environmental influences; and the promise of novel insights into their mechanisms of action. The review highlights current research that aims to better our understanding of the role of environmental factors in the aetiology and course of ASC and, in the near future, may offer the potential for personalised medicine approaches to intervention based on these discoveries. [ABSTRACT FROM AUTHOR]

The authors discuss the results of their Special Needs and Autism Project (SNAP) study, a prevalence study of autism and the broader autism spectrum disorders (ASD) in 56,946 children in Great Britain. The rates and agreement of the International Classification of Diseases (ICD-10) diagnoses and the classification used in V. Lotter's paper "Epidemiology of autistic conditions in young children" are compared. The impact of diagnostic practice, awareness of autism, and other methodological factors on autism prevalence are also cited.

Aim We undertook this study to explore the degree of impairment in movement skills in children with autistic spectrum disorders (ASD) and a wide IQ range. Method Movement skills were measured using the Movement Assessment Battery for Children (M-ABC) in a large, well defined, population-derived group of children ( n=101: 89 males,12 females; mean age 11y 4mo, SD 10mo; range 10y–14y 3mo) with childhood autism and broader ASD and a wide range of IQ scores. Additionally, we tested whether a parent-completed questionnaire, the Developmental Coordination Disorder Questionnaire (DCDQ), was useful in identifying children who met criteria for movement impairments after assessment ( n=97 with complete M-ABCs and DCDQs). Results Of the children with ASD, 79% had definite movement impairments on the M-ABC; a further 10% had borderline problems. Children with childhood autism were more impaired than children with broader ASD, and children with an IQ less than 70 were more impaired than those with IQ more than 70. This is consistent with the view that movement impairments may arise from a more severe neurological impairment that also contributes to intellectual disability and more severe autism. Movement impairment was not associated with everyday adaptive behaviour once the effect of IQ was controlled for. The DCDQ performed moderately well as a screen for possible motor difficulties. Interpretation Movement impairments are common in children with ASD. Systematic assessment of movement abilities should be considered a routine investigation. [ABSTRACT FROM AUTHOR]

We report rates of regression and associated findings in a population derived group of 255 children aged 9–14 years, participating in a prevalence study of autism spectrum disorders (ASD); 53 with narrowly defined autism, 105 with broader ASD and 97 with non-ASD neurodevelopmental problems, drawn from those with special educational needs within a population of 56,946 children. Language regression was reported in 30% with narrowly defined autism, 8% with broader ASD and less than 3% with developmental problems without ASD. A smaller group of children were identified who underwent a less clear setback. Regression was associated with higher rates of autistic symptoms and a deviation in developmental trajectory. Regression was not associated with epilepsy or gastrointestinal problems. [ABSTRACT FROM AUTHOR]

Background: Autism spectrum disorders (ASD) and specific language impairment (SLI) are common developmental disorders characterised by deficits in language and communication. The nature of the relationship between them continues to be a matter of debate. This study investigates whether the co-occurrence of ASD and language impairment is associated with differences in severity or pattern of autistic symptomatology or language profile. Methods: Participants ( N = 97) were drawn from a total population cohort of 56,946 screened as part of study to ascertain the prevalence of ASD, aged 9 to 14 years. All children received an ICD-10 clinical diagnosis of ASD or No ASD. Children with nonverbal IQ ≥80 were divided into those with a language impairment (language score of 77 or less) and those without, creating three groups: children with ASD and a language impairment (ALI; N = 41), those with ASD and but no language impairment (ANL; N = 31) and those with language impairment but no ASD (SLI; N = 25). Results: Children with ALI did not show more current autistic symptoms than those with ANL. Children with SLI were well below the threshold for ASD. Their social adaptation was higher than the ASD groups, but still nearly 2 SD below average. In ALI the combination of ASD and language impairment was associated with weaker functional communication and more severe receptive language difficulties than those found in SLI. Receptive and expressive language were equally impaired in ALI, whereas in SLI receptive language was stronger than expressive. Conclusions: Co-occurrence of ASD and language impairment is not associated with increased current autistic symptomatology but appears to be associated with greater impairment in receptive language and functional communication. [ABSTRACT FROM AUTHOR]

Abstract: The development of action representation during adolescence was investigated using a visually guided pointing motor task (VGPT) to test motor imagery. Forty adolescents (24 males; mean age 13.1 years) and 33 adults (15 males; mean age 27.5 years) were instructed to both execute and imagine hand movements from a starting point to a target of varying size. Reaction time (RT) was measured for both Execution (E) and Imagery (I) conditions. There is typically a close association between time taken to execute and image actions in adults because action execution and action simulation rely on overlapping neural circuitry. Further, representations of actions are governed by the same speed-accuracy trade-off as real actions, as expressed by Fitts’ Law. In the current study, performance on the VGPT in both adolescents and adults conformed to Fitts’ Law in E and I conditions. However, the strength of association between E and I significantly increased with age, reflecting a refinement in action representation between adolescence and adulthood. [Copyright &y& Elsevier]

Objective: To examine the properties of the Social Communication Questionnaire (SCQ) in a population cohort of children with autism spectrum disorders (ASDs) and in the general population.Method: SCQ data were collected from three samples: the Special Needs and Autism Project (SNAP) cohort of 9- to 10-year-old children with special educational needs with and without ASD and two similar but separate age groups of children from the general population (n = 411 and n= 247). Diagnostic assessments were completed on a stratified subsample (n = 255) of the special educational needs group. A sample-weighting procedure enabled us to estimate characteristics of the SCQ in the total ASD population. Diagnostic status of cases in the general population samples were extracted from child health records.Results: The SCQ showed strong discrimination between ASD and non-ASD cases (sensitivity 0.88, specificity 0.72) and between autism and nonautism cases (sensitivity 0.90, specificity 0.86). Findings were not affected by child IQ or parental education. In the general population samples between 4% and 5% of children scored above the ASD cutoff including 1.5% who scored above the autism cutoff. Although many of these high-scoring children had an ASD diagnosis, almost all(approximately 90%) of them had a diagnosed neurodevelopmental disorder.Conclusions: This study confirms the utility of the SCQ as a first-level screen for ASD in at-risk samples of school-age children. [ABSTRACT FROM AUTHOR]

Background: This prospective study compared outcome for pre-school children with autism spectrum disorders (ASD) receiving autism-specific nursery provision or home-based Early Intensive Behavioural Interventions (EIBI) in a community setting. Methods: Forty-four 23- to 53-month-old children with ASD participated (28 in EIBI home-based programmes; 16 in autism-specific nurseries). Cognitive, language, play, adaptive behaviour skills and severity of autism were assessed at intake and 2 years later. Results: Both groups showed improvements in age equivalent scores but standard scores changed little over time. At follow-up, there were no significant group differences in cognitive ability, language, play or severity of autism. The only difference approaching significance ( p = .06), in favour of the EIBI group, was for Vineland Daily Living Skills standard scores. However, there were large individual differences in progress, with intake IQ and language level best predicting overall progress. Conclusions: Home-based EIBI, as implemented in the community, and autism-specific nursery provision produced comparable outcomes after two years of intervention. [ABSTRACT FROM AUTHOR]

Abstract: During adolescence the body undergoes many physical changes. These changes necessitate an updating of internal models of action. Here, we tested the hypothesis that internal models undergo refinement between adolescence and adulthood. We investigated the chronometry of executed and imagined hand actions, which relies on internal models, in 40 adolescents (24 males; mean age 13.1 years) and 33 adults (15 males; mean age 27.5 years). In two different motor imagery tasks, the time it took each participant to execute a hand movement was compared with the time it took them to imagine making that movement. For all participants, movement execution time significantly correlated with movement imagery time. However, there was a significant increase in the execution–imagery time correlation between adolescence and adulthood. Cognitive-motor efficiency per se did not change as indexed by both similar execution and imagery times on both tasks for the adolescents and adults. That it was only the correlation between imagined and executed actions that changed with age suggests that the developmental change was specific to generating accurate motor images and not a result of general cognitive improvement with age. The results support the notion that aspects of internal models are refined during adolescence. We suggest that this refinement may be facilitated by the development of parietal cortex during adolescence. [Copyright &y& Elsevier]

Abstract: High functioning children with a diagnosis of autism or Asperger’s syndrome (HF-ASD) often experience difficulties organising goal-directed actions in their day-to-day lives, requiring support to schedule daily activities. This study aimed to capture these everyday difficulties experimentally using multitasking, a methodology that taps into the cognitive processes necessary for successful goal-directed activities in everyday life. We investigated multitasking in children with HF-ASD using a novel multitask test, the Battersea Multitask Paradigm. Thirty boys participated in the study, 14 with HF-ASD and 16 typically developing controls, matched for age and IQ. Group differences in multitasking were observed. Participants with HF-ASD were less efficient at planning, attempted fewer tasks, switched inflexibly between tasks and broke performance rules more frequently than controls. [Copyright &y& Elsevier]

Abstract: This study explored different gradations of emulation in the imitation of actions on objects by 17-month-olds. Experiment 1 established levels of behavioral reproduction following prerecorded video demonstrations similar to those levels following live demonstrations. In Experiment 2, two digitally modified videos, where object movements or body movements critical to producing the target action were highlighted in isolation, were developed. Infants produced the target action equally frequently by observing the object movement video and observing the unmodified video. In contrast, their performance was much less successful based on the body movement video. In Experiment 3, the performance obtained following the object movement video was similar to that following a further video that emphasized the object movements produced in unsuccessful attempts to produce the target action. These findings suggest that emulation in the form of object movement reenactment or affordance learning plays a role in the social learning of actions on objects during infancy. [Copyright &y& Elsevier]

We aimed to improve the understanding of genotype–phenotype correlations in Rett syndrome (RS) by adopting a novel approach to categorising phenotypic dimensions – separating typicality of presentation, outcome severity and age of onset – and by classifying MECP2 mutations strictly by predicted functional attributes. MECP2 mutation screening results were available on 190 patients with a clinical diagnosis of RS (140 cases with classic RS, 50 with atypical RS). 135 cases had identified mutations. Of the 140 patients, 116 with classic RS (82.9%) had an identified mutation compared with 19 of 50 patients (38%) with an atypical presentation. Cases with early onset of regression and seizures, and those with clinical features that might indicate alternative aetiologies, were less likely to have mutations. Individuals with late truncating mutations had a less typical presentation than cases with missense and early truncating mutations, presumably reflecting greater residual function of MECP2 protein. Individuals with early truncating mutations had a more severe outcome than cases with missense and late truncating mutations. These findings held when restricting the analysis to cases over 15 years of age and classic cases only. Previous findings of variation in severity among the common mutations were confirmed. The approach to phenotypic and genotypic classification adopted here allowed us to identify genotype–phenotype associations in RS that may aid our understanding of pathogenesis and also contribute to clinical knowledge on the impact of different types of mutations.European Journal of Human Genetics (2005) 13, 1121–1130. doi:10.1038/sj.ejhg.5201471; published online 3 August 2005 [ABSTRACT FROM AUTHOR]

To examine the predictive validity of symptom severity, cognitive and language measures taken at ages 2 and 3 years to outcome at age 7 in a sample of children diagnosed with autism at age 2. Twenty-six children diagnosed with autism at age 2 were re-assessed at ages 3 and 7 years. At each age symptom severity, cognitive and language assessments were completed. The pattern of autistic symptom severity varied over time by domain. Across time, children moved across diagnostic boundaries both in terms of clinical diagnosis and in terms of instrument diagnosis on the Autism Diagnostic Interview-Revised (ADI-R). On all measures group variability in scores increased with age. Although non-verbal IQ (NVIQ) for the group as a whole was stable across the 3 assessments, this masked considerable individual instability. Standard assessments at age 2 did not predict outcome at age 7 even within the same domain of functioning. In contrast, standard assessments at age 3 did predict outcome. However, a measure of rate of non-verbal communicative acts taken from an interactive play-based assessment at age 2 was significantly associated with language, communication and social outcomes at age 7. The trajectory of autism symptoms over time differed in different domains, suggesting that they may be, at least in part, separable. Variability in language, NVIQ and symptom severity increased over time. Caution is required when interpreting the findings from assessments of children with autism at age 2 years. At this age measures of rate of non-verbal communication might be more informative than scores on standard psychometric tests. Predictive validity of assessments at age 3 years was greater. [ABSTRACT FROM AUTHOR]

Increasing numbers of children with autism spectrum disorder (ASD) are diagnosed in the preschool years, and their educational progress must be monitored. Parent questionnaire data can augment psychometric assessments and individual planning at low cost. One hundred and twenty-five parents of UK children who entered dedicated autism primary schools and units in two consecutive calendar years were asked to complete three questionnaires. Fifty-seven parents repeated the questionnaire measures one year later. Encouraging developmental progress was observed on the Vineland Adaptive Behavior Scales-Screener. Symptom severity as measured by the Social Communication Questionnaire did not change over time. The pattern of change scores on the Autism Treatment Evaluation Checklist was mixed, and confounding disadvantages this questionnaire. The study demonstrated that it is possible to collect useful information on the progress of children with ASD using parents as informants. Such data would assist in judging claims regarding developmental progress within particular programmes. [ABSTRACT FROM AUTHOR]

Earlier identification of children with autism spectrum disorders (ASDs) is welcome, but presents a number of challenges to the clinical and the research enterprises (see Charman & Baird [2002] for a review). In the research enterprise, one critical methodological challenge is the use of appropriate measures on which to match groups of preschoolers with ASDs to comparison groups with other neurodevelopmental conditions. Language and communication impairments are central to the diagnosis of ASD and, therefore, critical variables to consider in group-matched research designs. In the domain of language function the challenges include the very poor language competence of many preschoolers with ASDs, the fact that some early language competencies form part of the formal diagnostic criteria of ASD and diagnostic algorithms on research diagnostic instruments, the uneven profile of language competency in children with ASDs, and the difference between performance on measures of formal language competency in the testing situation and everyday language use. The current paper will review these challenges and suggest some possible approaches to overcome them, including using more than one measure of language ability and adopting a pragmatic approach to group composition and statistical analysis. [ABSTRACT FROM AUTHOR]

It has long been recognized that there is phenotypic overlap between Rett syndrome (RS) and autism. Advances in our clinical and genetic understanding of RS over the past decade have made clear that the cause and course of RS and autism are distinct (except perhaps in a few cases). Despite this, further delineation of the phenotypic overlap between RS and autism is warranted to enhance clinical decision-making and to further understanding of neuropathological development in both disorders. The present study measured autistic symptoms using the Autism Behavior Checklist (ABC) in a sample of girls with RS and a comparison group of girls with severe and profound mental retardation (SMR). Controlling for developmental level and motor ability, girls with RS scored more highly than those with SMR on the Sensory and Relating subscales. In contrast, there were no group differences on the Body and Object use, Language and Social and Self-help subscales. Further work on the characterisation of the behavioral phenotype of genetic disorders such as RS and autism may aid in identifying the neuropathogenic processes that lead from gene-to-brain-to-behavior. [ABSTRACT FROM AUTHOR]