Get real : the development, implementation and evaluation of an intervention for primary aged children with High Functioning Autism

Children with Autism Spectrum Disorder experience difficulty in communication and in understanding the social world which can have negative consequences for their relationships, in managing emotions, and generally dealing with the challenges of everyday life. This thesis examines the effectiveness of the Active and Reflective components of the Get REAL program through the assessment of the detailed coding of video-recorded observations and longitudinal quantitative analysis. The aim of Get REAL is to increase the social, emotional, and cognitive learning of children with High Functioning Autism (HFA). Get REAL is a group program designed specifically for use in inclusive primary school settings. The Get REAL program was designed in response to the mixed success of generalisation of learning to new contexts of existing social skills programs. The theoretical foundation of Get REAL is based upon pedagogical theory and learning theory to facilitate transfer of learning, combined with experiential, individualised, evaluative and organisational approaches. This thesis is by publication and consists of four refereed journal papers; 1 accepted for publication and 3 that are under review. Paper 1 describes the development and theoretical basis of the Get REAL program and provides detail of the program structure and learning cycle. The focus of Paper 1 reflects the first question of interest in the thesis which is about the extent to which learning derived from participation in the program can be generalised to other contexts. Participants are 16 children with HFA ranging in age from 8-13 years. Results provided support for the generalisability of learning from Get REAL to home and school evidenced by parent and teacher data collected pre and post participation in Get REAL. Following establishment of the generalisation of learning from Get REAL, Papers 2 and 3 focus on the Active and Reflective components of the program in order to examine how individual and group learning takes place. Participants (N = 12) in the program are video-taped during the Active and Reflective Sessions. Using identical coding protocols of video data, improvements in prosocial behaviour and diminishing of inappropriate behaviours were apparent with the exception of perspective taking. Data also revealed that 2 of the participants had atypical trajectories. An in-depth case study analysis was then conducted with these 2 participants in Paper 4. Data included reports from health care and education professionals within the school and externally (e.g., paediatrician) and identified the multi-faceted nature of care needed for children with comorbid diagnoses and extremely challenging family circumstances as a complex task to effect change. Results of this research support the effectiveness of the Get REAL program in promoting pro social behaviours such as improvements in engaging with others and emotional regulation, and in diminishing unwanted behaviours such as conduct problems. Further, the gains made by the participating children were found to be generalisable beyond Get REAL to home and other school settings. The research contained in the thesis adds to current knowledge about how learning can take place for children with HFA. Results show that an experiential learning framework with a focus on social cognition, together with explicit teaching, scaffolded with video feedback, are key ingredients for the generalisation of social learning to broader contexts.

Autism; it's for life, not just the weekend

An article about holidaying with a child with autism on a popular Australian website has sparked exasperation among many parents and advocates. Ian Rogerson, Nicole Rogerson and Michael Whelan respond. Against a backdrop of a middle-class vacation at a beach house, disability arrives and Lives are Changed when a kid "steals" a sausage roll. No. This is not the premise for a rejected David Williamson screenplay. It's the work of a writer who felt her weekend away with a family whose number happened to include an autistic kid deserved some attention. As parents of children on the autism spectrum we too think the piece published on a major Australian website yesterday deserves some attention. Just, perhaps, not in the way its author had hoped.

Understanding video based parent training intervention for children with autism

This paper investigates the challenges of delivering parent training intervention for autism over video. We conducted a qualitative field study of an intervention, which is based on a well-established training program for parents of children with autism, called Hanen More Than Words. The study was conducted with a Hanen Certified speech pathologist who delivered video based training to two mothers, each with a son having autism. We conducted observations of 14 sessions of the intervention spanning 3 months along with 3 semi-structured interviews with each participant. We identified different activities that participants performed across different sessions and analysed them based upon their implications on technology. We found that all the participants welcomed video based training but they also faced several difficulties, particularly in establishing rapport with other participants, inviting equal participation, and in observing and providing feedback on parent-child interactions. Finally, we reflect on our findings and motivate further investigations by defining three design sensitivities of Adaptation, Group Participation, and Physical Setup.

The Cooperative Research Centre for Living with Autism (Autism CRC) conceptual model to promote mental health for adolescents with ASD

Despite an increased risk of mental health problems in adolescents with Autism Spectrum Disorder (ASD), there is limited research on effective prevention approaches for this population. Funded by the Cooperative Research Centre for Living with Autism, a theoretically and empirically supported school-based preventative model has been developed to alter the negative trajectory and promote wellbeing and positive mental health in adolescents with ASD. This conceptual paper provides the rationale, theoretical, empirical and methodological framework of a multilayered intervention targeting the school, parents, and adolescents on the spectrum. Two important interrelated protective factors have been identified in community adolescent samples, namely the sense of belonging (connectedness) to school, and the capacity for self and affect regulation in the face of stress (i.e., resilience). We describe how a confluence of theories from social psychology, developmental psychology and family systems theory, along with empirical evidence (including emerging neurobiological evidence) supports the interrelationships between these protective factors and many indices of wellbeing. However, the characteristics of ASD (including social and communication difficulties, and frequently difficulties with changes and transitions, and diminished optimism and self-esteem) impair access to these vital protective factors. The paper describes how evidenced-based interventions at the school level for promoting inclusive schools (using the Index for Inclusion), and interventions for adolescents and parents to promote resilience and belonging (using the Resourceful Adolescent Program (RAP)), are adapted and integrated for adolescents with ASD. This multisite proof of concept study will confirm whether this multilevel school-based intervention is promising, feasible and sustainable.

SYNGAP1: Mind the Gap

A cardinal feature of early stages of human brain development centers on the sensory, cognitive, and emotional experiences that shape neuronal-circuit formation and refinement. Consequently, alterations in these processes account for many psychiatric and neurodevelopmental disorders. Neurodevelopment disorders affect 3-4% of the world population. The impact of these disorders presents a major challenge to clinicians, geneticists, and neuroscientists. Mutations that cause neurodevelopmental disorders are commonly found in genes encoding proteins that regulate synaptic function. Investigation of the underlying mechanisms using gain or loss of function approaches has revealed alterations in dendritic spine structure, function, and plasticity, consequently modulating the neuronal circuit formation and thereby raising the possibility of neurodevelopmental disorders resulting from synaptopathies. One such gene, SYNGAP1 (Synaptic Ras-GTPase-activating protein) has been shown to cause Intellectual Disability (ID) with comorbid Autism Spectrum Disorder (ASD) and epilepsy in children. SYNGAP1 is a negative regulator of Ras, Rap and of AMPA receptor trafficking to the postsynaptic membrane, thereby regulating not only synaptic plasticity, but also neuronal homeostasis. Recent studies on the neurophysiology of SYNGAP1, using Syngapl mouse models, have provided deeper insights into how downstream signaling proteins and synaptic plasticity are regulated by SYNGAP1. This knowledge has led to a better understanding of the function of SYNGAP1 and suggests a potential target during critical period of development when the brain is more susceptible to therapeutic intervention.

SYNGAP1: Mind the Gap

A cardinal feature of early stages of human brain development centers on the sensory, cognitive, and emotional experiences that shape neuronal-circuit formation and refinement. Consequently, alterations in these processes account for many psychiatric and neurodevelopmental disorders. Neurodevelopment disorders affect 3-4% of the world population. The impact of these disorders presents a major challenge to clinicians, geneticists, and neuroscientists. Mutations that cause neurodevelopmental disorders are commonly found in genes encoding proteins that regulate synaptic function. Investigation of the underlying mechanisms using gain or loss of function approaches has revealed alterations in dendritic spine structure, function, and plasticity, consequently modulating the neuronal circuit formation and thereby raising the possibility of neurodevelopmental disorders resulting from synaptopathies. One such gene, SYNGAP1 (Synaptic Ras-GTPase-activating protein) has been shown to cause Intellectual Disability (ID) with comorbid Autism Spectrum Disorder (ASD) and epilepsy in children. SYNGAP1 is a negative regulator of Ras, Rap and of AMPA receptor trafficking to the postsynaptic membrane, thereby regulating not only synaptic plasticity, but also neuronal homeostasis. Recent studies on the neurophysiology of SYNGAP1, using Syngapl mouse models, have provided deeper insights into how downstream signaling proteins and synaptic plasticity are regulated by SYNGAP1. This knowledge has led to a better understanding of the function of SYNGAP1 and suggests a potential target during critical period of development when the brain is more susceptible to therapeutic intervention.

Altered expression of Alzheimer's disease-related genes in the cerebellum of autistic patients: a model for disrupted brain connectome and therapy

Autism and Alzheimer's disease (AD) are, respectively, neurodevelopmental and degenerative diseases with an increasing epidemiological burden. The AD-associated amyloid-beta precursor protein-alpha has been shown to be elevated in severe autism, leading to the 'anabolic hypothesis' of its etiology. Here we performed a focused microarray analysis of genes belonging to NOTCH and WNT signaling cascades, as well as genes related to AD and apoptosis pathways in cerebellar samples from autistic individuals, to provide further evidence for pathological relevance of these cascades for autism. By using the limma package from R and false discovery rate, we demonstrated that 31% (116 out of 374) of the genes belonging to these pathways displayed significant changes in expression (corrected P-values <0.05), with mitochondria- related genes being the most downregulated. We also found upregulation of GRIN1, the channel-forming subunit of NMDA glutamate receptors, and MAP3K1, known activator of the JNK and ERK pathways with anti-apoptotic effect. Expression of PSEN2 (presinilin 2) and APBB1 (or F65) were significantly lower when compared with control samples. Based on these results, we propose a model of NMDA glutamate receptor-mediated ERK activation of alpha-secretase activity and mitochondrial adaptation to apoptosis that may explain the early brain overgrowth and disruption of synaptic plasticity and connectome in autism. Finally, systems pharmacology analyses of the model that integrates all these genes together (NOWADA) highlighted magnesium (Mg2+) and rapamycin as most efficient drugs to target this network model in silico. Their potential therapeutic application, in the context of autism, is therefore discussed.

A Comunicação Alternativa e Ampliada e suas contribuições para o processo de inclusão de um aluno com Transtorno do Espectro do Autismo com distúrbios na comunicação.

O presente estudo foi fruto de uma pesquisa maior ocorrida no período entre os anos de 2011 e 2012. Tal pesquisa teve como objetivo planejar, implementar e a avaliar um programa de capacitação oferecido para professores da rede municipal do Rio de Janeiro que atuavam em salas de Atendimento Educacional Especializado para introduzir o uso do sistema PECS-Adaptado junto aos alunos com Transtorno do Espectro do Autismo sem fala funcional. Ao final da pesquisa maior, alguns questionamentos surgiram, dando origem ao presente trabalho, a fim de dar seguimento à pesquisa desenvolvida e finalizada. Para tanto, o estudo foi dividido em dois: Estudo I e Estudo II. O primeiro foi o Follow-up da pesquisa maior e teve como objetivo verificar a continuidade do uso do sistema PECS-Adapatado por um aluno com TEA tendo a professora de AEE em sala de recursos como a sua principal interlocutora após o término da pesquisa maior e analisar o avanço na evolução das fases do referido sistema de CAA. Foi realizado em uma sala de recursos do município do Rio de Janeiro e participaram da pesquisa uma professora da sala de recursos e aluno com TEA. Ocorreram 7 sessões de Follow-up, que foram analisadas a partir de um protocolo de registro, de acordo com as tentativas ocorridas e a pontuação de acordo com os níveis de apoio recebidos para usar o sistema de CAA. Os resultados apontaram para uma continuidade do uso do PECS-Adaptado pela professora de sala de recursos e um avanço no desempenho do aluno até a fase 4. O Estudo II teve como objetivo analisar as interações comunicativas de um aluno com TEA em ambiente de sala de aula regular, verificando os efeitos da utilização de um sistema de Comunicação Alternativa e Ampliada no contexto escolar. Tiveram como participantes o aluno do Estudo I, a professora da turma regular que ele frequentava e a estagiária. O estudo ocorreu em uma sala de aula de uma escola regular municipal do Rio de Janeiro e foram realizadas 10 sessões ao todo, das quais 4 sessões de linha de base e 6 de intervenção, além de 3 encontros de capacitação com a professora e estagiária. Para transcrever os dados, foram realizados quadros de categorias dos atos comunicativos dos três participantes, onde foram verificadas as ocorrências em intervalos de 3 minutos. Os resultados sinalizaram uma maior interação comunicativa do aluno com a estagiária na fase de intervenção, uma vez que a professora passou a diminuir significativamente a atenção ao aluno, dirigindo-se pouco a ele. O aluno começou a fazer uso da CAA em sala de aula, ampliando a sua possibilidade de comunicar-se com seus pares em contexto escolar. Concluiu-se que a preocupação com a comunicação é um dos fatores fundamentais para que a inclusão de um aluno com TEA ocorra de forma mais eficaz, assim como outros fatores que ainda precisam ser revistos pela prática pedagógica para garantir o acesso pleno de pessoas com necessidades especiais ao contexto escolar. Além disso, o PECS-Adaptado mostrou-se um eficaz sistema de CAA para ser utilizado por alunos com TEA, mesmo que tenha sido mais efetivo em sala de recursos.

Synchrony between sensory and cognitive networks is associated with subclinical variation in autistic traits

© 2015 Young, Smith, Coutlee and Huettel.Individuals with autistic spectrum disorders exhibit distinct personality traits linked to attentional, social, and affective functions, and those traits are expressed with varying levels of severity in the neurotypical and subclinical population. Variation in autistic traits has been linked to reduced functional and structural connectivity (i.e., underconnectivity, or reduced synchrony) with neural networks modulated by attentional, social, and affective functions. Yet, it remains unclear whether reduced synchrony between these neural networks contributes to autistic traits. To investigate this issue, we used functional magnetic resonance imaging to record brain activation while neurotypical participants who varied in their subclinical scores on the Autism-Spectrum Quotient (AQ) viewed alternating blocks of social and nonsocial stimuli (i.e., images of faces and of landscape scenes). We used independent component analysis (ICA) combined with a spatiotemporal regression to quantify synchrony between neural networks. Our results indicated that decreased synchrony between the executive control network (ECN) and a face-scene network (FSN) predicted higher scores on the AQ. This relationship was not explained by individual differences in head motion, preferences for faces, or personality variables related to social cognition. Our findings build on clinical reports by demonstrating that reduced synchrony between distinct neural networks contributes to a range of subclinical autistic traits.

Science for sale in a free market economy: But at what price? ABA and the treatment of autism in Europe.

Educating the public accurately about Applied Behavior Analysis (ABA) is an important undertaking, not least because misconceptions and myths about ABA abound. In this paper we argue that, unfortunately, the efforts of many dedicated professionals and parents to disseminate accurate information about the benefits of ABA for children diagnosed with autism spectrum disorder (ASD) are damaged by a few behavior analysts whose focus seems to be more on monetary gains than social responsibility. We cite examples of the resulting harm to the public image of behavior analysis from a number of European countries. We conclude by calling upon fellow scientists to unite in their opposition to unscrupulous abuses of free market forces for short-term monetary gains that damage the dissemination of the science of behavior analysis and thereby ultimately disadvantage those who should benefit primarily from our science, i.e., some of the most vulnerable citizens of society.

Aldo goes to Primary School: Experiencing school through the lens of the autistic spectrum.

The document draws largely on the results of research carried out by Hugh McNally and Dominic Morris of McNally Morris Architects and Keith McAllister of Queen’s University Belfast between 2012 and 2013. The objective of the study was to obtain a greater understanding of the impact that architecture and the built environment can have on people with autism spectrum disorder (ASD). The investigation into the subject centred on parents of young children with ASD in the belief that they are most likely to have an intimate knowledge of the issues that affect their children and are relatively well positioned to communicate those issues.

The study comprised a number of components.

- Focus Group Discussions with parents of children with ASD
- A Postal Questionnaire completed by parents of children with ASD
- A Comprehensive Desktop study of contemporary research into the relationship between ASD and aspects of the built environment.

Social stories are then used to help illustrate the world of a child with ASD to the reader and identify a series of potential difficulties for the pupil with ASD in a primary school setting. Design considerations and mitigating measures are then proposed for each difficulty.

The intention is that the document will raise awareness of some of the issues affecting primary school children with ASD and generate discourse among those whose task it is to provide an appropriate learning environment for all children. This includes teachers, health professionals, architects, parents, carers, school boards, government bodies and those with ASD themselves.

While this document uses the primary school as a lens through which to view some of the issues associated with ASD, it is the authors’ contention that the school can be seen as a “microcosm” for the wider world and that lessons taken from the learning environment can be applied elsewhere. The authors therefore hope that the document will help raise awareness of the myriad of issues for those with ASD that are embedded in the vast landscape of urban configurations and building types making up the spatial framework of our society.

Spontaneous and cued gaze-following in autism and Williams syndrome

Background: From a young age the typical development of social functioning relies upon the allocation of attention to socially relevant information, which in turn allows experience at processing such information and thus enhances social cognition. As such, research has attempted to identify the developmental processes that are derailed in some neuro-developmental disorders that impact upon social functioning. Williams syndrome (WS) and Autism are disorders of development that are characterized by atypical yet divergent social phenotypes and atypicalities of attention to people.

Methods: We used eye tracking to explore how individuals with WS and Autism attended to, and subsequently interpreted, an actor’s eye gaze cue within a social scene. Images were presented for three seconds, initially with an instruction simply to look at the picture. The images were then shown again, with the participant asked to identify the object being looked at. Allocation of eye-gaze in each condition was analyzed by ANOVA and accuracy of identification was compared with t-tests.

Results: Participants with WS allocated more gaze time to face and eyes than their matched controls both with and without being asked to identify the item being looked at; while participants with Autism spent less time on face and eyes in both conditions. When cued to follow gaze, participants with WS increased gaze to the correct targets, while those with Autism looked more at the face and eyes but did not increase gaze to the correct targets, while continuing to look much more than their controls at implausible targets. Both groups identified fewer objects than their controls.

Conclusions: The atypicalities found are likely to be entwined with the deficits shown in interpreting social cognitive cues from the images. WS and Autism are characterised by atypicalities of social attention that impact upon socio-cognitive expertise but importantly the type of atypicality is syndrome-specific.

Molecular Validation of the Schizophrenia Spectrum

Background: Early descriptive work and controlled family and adoption studies support the hypothesis that a range of personality and nonschizophrenic psychotic disorders aggregate in families of schizophrenic probands. Can we validate, using molecular polygene scores from genome-wide association studies (GWAS), this schizophrenia spectrum? Methods: The predictive value of polygenic findings reported by the Psychiatric GWAS Consortium (PGC) was applied to 4 groups of relatives from the Irish Study of High-Density Schizophrenia Families (ISHDSF; N = s) differing on their assignment within the schizophrenia spectrum. Genome-wide single nucleotide polymorphism data for affected and unaffected relatives were used to construct per-individual polygene risk scores based on the PGC stage-I results. We compared mean polygene scores in the ISHDSF with mean scores in ethnically matched population controls (N = 929). Results: The schizophrenia polygene score differed significantly across diagnostic categories and was highest in those with narrow schizophrenia spectrum, lowest in those with no psychiatric illness, and in-between in those classified in the intermediate, broad, and very broad schizophrenia spectrum. Relatives of all of these groups of affected subjects, including those with no diagnosis, had schizophrenia polygene scores significantly higher than the control sample. Conclusions: In the relatives of high-density families, the observed pattern of enrichment of molecular indices of schizophrenia risk suggests an underlying, continuous liability distribution and validates, using aggregate common risk alleles, a genetic basis for the schizophrenia spectrum disorders. In addition, as predicted by genetic theory, nonpsychotic members of multiply-affected schizophrenia families are significantly enriched for replicated, polygenic risk variants compared with the general population.

The Millennium child with autism: Early childhood trajectories for health, education and economic wellbeing

Objective: Most of what we know about children with autism spectrum disorder (ASD) is based on post-diagnostic, retrospective, self-select studies. Oftentimes, there is no direct comparison between trajectories of children with ASD and children without ASD.

Methods: To circumvent both of these problems, the present secondary data analysis utilised a large-scale longitudinal general population survey of children born in the year 2000 (i.e. the Millennium Cohort Study; MCS; n=18522). Bi-annual MCS data were available from five data sweeps (children aged 9 months to 11 years of age).

Results: Pre-diagnostic data showed early health problems differentiated children later diagnosed with autism from non-diagnosed peers. Prevalence was much higher than previously estimated (3.5% for 11-year olds). Post-diagnosis, trajectories deteriorated significantly for the children with ASD and their families in relation to education, health and economic wellbeing.

Conclusion: These findings raise many issues for service delivery and the rights of persons with disabilities and their families.

Autism and ABA: Best Practice in America and the Way Forward for Europe.

According to recent estimates, 1 in each 68 new-borns will be diagnosed with an Autism Spectrum Disorder (ASD) in the USA (Centers for Disease Control and Prevention, 2014), while 1 in every 29 children will be diagnosed with ASD in the UK (Dillenburger, Jordan, McKerr, & Keenan, 2015). Individuals diagnosed with ASD share a set of characteristics at varying levels of severity: impairments in social communication skills and presence of restricted interests and repetitive behaviours (American Psychiatric Association, 2013).Notwithstanding these figures, little effort has been placed in European countries’ policies for reaching an early diagnosis. This has a detrimental effect on future prognosis for children with ASD, since research has clearly shown that when evidence-based interventions are accessed early in life, they can lead to great improvements on the overall functioning of children with ASD, including significant gains in social communication and reduction of inappropriate behaviours (Dawson, Rogers, Munson, Smith, Winter, Greenson, Donaldson, & Varley, 2009).Additionally, when looking at the services available for children with ASD and their families in Europe, it seems that not much improvement has been made in the last decades. Traditional eclectic approaches and a wealth of non-scientific methods seem to be available and often recommended by public bodies, while state-funded evidence-based interventions are not offered as part of the education or health system. Given that there is a wealth of evidence on the effectiveness of interventions based on the science of ABA, it seems that specific action is required to correct the situation, respecting children’s right to effective treatment and inclusion.In the present paper, these issues are fully discussed and recommendations for best practice are offered.