Family functioning during the diagnosis process in families with children on the autism spectrum,

While the causes of autism spectrum disorder (ASD) still are not fully understood, increasingly research focuses on interventions and treatment of children diagnosed with ASD. Considerably less attention is paid to family systems, family functioning, and family needs. This paper takes a family system perspective exploring how families with children on the autism spectrum function during the particularly stressful period of the diagnosis process and thereafter. Recommendations made in this paper include the need for empirical studies that address in detail family systems, family needs, the assessment and diagnostic process, service provision, social support networks, and additional stressful life events. Furthermore, the development of a family functioning assessment tools is called for in order to promote child-family-centred assessment and intervention. Details of an ongoing comparative study are outlined that will make a contribution to family studies and autism research field with a specific focus on the diagnosis

Evidence-based management and intervention for autism spectrum disorders

Autism Spectrum Disorder (ASD) is diagnosed along a continuum of behavioural variants in social communication and repetitive behaviours [96]. Most individuals on the autism spectrum also experience differences in sensory perception. Some individuals on the spectrum are ‘high-functioning’ and able to cope in every day environments, while others are severely affected, non-verbal, and may have co-occurring diagnoses, such as intellectual disability, epilepsy, and/or obsessional, conduct, or mental health disorders. These individuals require substantial support, caring and careful management, and evidence-based, effective interventions.

Real-life Social Attention in Children with Autism Spectrum Disorders

Autism is a neuro-developmental disorder defined by atypical social behaviour, of which atypical social attention behaviours are among the earliest clinical markers (Volkmar et al., 1997). Eye tracking studies using still images and movie clips have provided a method for the precise quantification of atypical social attention in ASD. This is generally characterised by diminished viewing of the most socially pertinent regions (eyes), and increased viewing of less socially informative regions (body, background, objects) (Klin et al., 2002; Riby & Hancock, 2008, 2009). Ecological validity within eye tracking studies has become an increasingly important issue. As of yet, however, little is known about the precise nature of the atypicalities of social attention in ASD in real-life. Objectives: To capture and quantify gaze patterns for children with an ASD within a real life setting, compared to two Typically Developing (TD) comparison groups. Methods: Nine children with an ASD were compared to two age matched TD groups – a verbal (N=9) and a non-verbal (N=9) comparison group. A real-life scenario was created involving an experimenter posing as a magician, and consisted of 3 segments: a conversation segment; a magic trick segment; and a puppet segment. The first segment explored children’s attentional preferences during a real-life conversation; the magic trick segment explored children’s use of the eyes as a communicative cue, and the puppet segment explored attention capture. Finally, part of the puppet section explored children’s use of facial information in response to an unexpected event. Results: The most striking difference between the groups was the diminished viewing of the eyes by the ASD group in comparison to both control groups. This was found particularly during the conversation segment, but also during the magic trick segment, and during the puppet segment. When in conversation, participants with ASD were found to spend a greater proportion time looking off-screen, in comparison to TD participants. There was also a tendency for the ASD group to spend a greater proportion of time looking to the mouth of the experimenter. During the magic trick segment, despite the fact that the eyes were not predictive of a correct location, both TD comparison groups continued to use the eyes as a communicative cue, whereas the ASD group did not. In the puppet segment, all three groups spent a similar amount of time looking between the puppet and regions of the experimenter’s face. However, in response to an unexpected event, the ASD group were significantly slower to fixate back on the experimenter’s face. Conclusions: The results demonstrate the reduced salience of socially pertinent information for children with ASD in real life, and they provide support for the findings from previous eye tracking studies involving scene viewing. However, the results also highlight a pattern looking off-screen for both the TD and ASD groups. This eye movement behaviour is likely to be associated specifically with real-life interaction, as it has functional relevance (Doherty-Sneddon et al., 2002). However, the fact that it is significantly increased in the ASD group has implications for their understanding of real life social interactions.

Parents' experiences of applied behaviour analysis (ABA)-based interventions for children diagnosed with autistic spectrum disorder

Applied behaviour analysis (ABA)-based programmes are endorsed as the gold standard for treatment of children with autistic spectrum disorder (ASD) in most of North America. This is not the case in most of Europe, where instead a non-specified 'eclectic' approach is adopted. We explored the social validity of ABA-based interventions with 15 European families who had experience with home-based, mainly self-managed, ABA-based programmes for their own child/ren with ASD. The results of the study highlighted the overwhelmingly positive impact that ABA-based interventions had on their children in areas such as social skills, challenging behaviour, communication, gross and fine motor skills, concentration, interaction, independence, overall quality of life and, most importantly, a feeling of hope for the future. Implications for European policy on ASD are discussed. © 2013 NASEN.

Imitation and 'theory of mind' competencies in discrimination of autism from other neurodevelopmental disorders

Several studies have reported imitative deficits in autism spectrum disorder (ASD). However, it is still debated if imitative deficits are specific to ASD or shared with clinical groups with similar mental impairment and motor difficulties. We investigated whether imitative tasks can be used to discriminate ASD children from typically developing children (TD) and children with general developmental delay (GDD). We applied discriminant function analyses to the performance of these groups on three imitation tasks and tests of dexterity, motor planning, verbal skills, theory of mind (ToM). Analyses revealed two significant dimensions. The first represented impairment of dexterity and verbal ability, and discriminated TD from GDD children. Once these differences were accounted for, differences in ToM and the three imitation tasks accounted for a significant proportion of the remaining intergroup variance and discriminated the ASD group from other groups. Further analyses revealed that inclusion of imitative tasks increased the specificity and sensitivity of ASD classification and that imitative tasks considered alone were able to reliably discriminate ASD, TD and GDD. The results suggest that imitation and theory of mind impairment in autism may stem from a common domain of origin separate from general cognitive and motor skill.

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.

The Emperor's new clothes: Eclecticism in autism treatment

Increasingly, Applied Behavior Analysis (ABA) is internationally recognised as the scientific basis for teaching and treatment in autism spectrum disorders. Yet, many governments and professionals across Europe promote an eclectic model as more child-centred and pragmatic. This paper addresses the issues of eclecticism and ABA by exploring how misinformation stands in the way of evidence-based procedures that are truly unified, practical, and child-centred.

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.

Sensory-motor problems in Autism

Despite being largely characterised as a social and cognitive disorder, strong evidence indicates the presence of significant sensory-motor problems in Autism Spectrum Disorder (ASD). This paper outlines our progression from initial, broad assessment using the Movement Assessment Battery for Children (M-ABC) to subsequent targeted kinematic assessment. In particular, pronounced ASD impairment seen in the broad categories of manual dexterity and ball skills was found to be routed in specific difficulties on isolated tasks, which were translated into focused experimental assessment. Kinematic results from both subsequent studies highlight impaired use of perception-action coupling to guide, adapt and tailor movement to task demands, resulting in inflexible and rigid motor profiles. In particular difficulties with the use of temporal adaption are shown, with "hyperdexterity" witnessed in ballistic movement profiles, often at the cost of spatial accuracy and task performance. By linearly progressing from the use of a standardised assessment tool to targeted kinematic assessment, clear and defined links are drawn between measureable difficulties and underlying sensory-motor assessment. Results are specifically viewed in-light of perception-action coupling and its role in early infant development suggesting that rather than being 'secondary' level impairment, sensory-motor problems may be fundamental in the progression of ASD. This logical and systematic process thus allows a further understanding into the potential route of observable motor problems in ASD; a vital step if underlying motor problems are to be considered a fundamental aspect of autism and allow a route of non-invasive preliminary diagnosis.

Awareness and knowledge of autism and autism interventions: A general population survey.

Recent figures show that Autism Spectrum Disorder (ASD) affects at least 1 in 88 of the population, yet for years, international public awareness of ASD was limited. Over the past 5-10 years intense efforts have been made to raise autism awareness in the general population in countries such as UK and US. In this paper we report data from a large-scale general population survey (n=1204) in which we assessed autism awareness, knowledge about autism, and perceptions about autism interventions in Northern Ireland. We found high levels of autism awareness, in fact over 80% of the sample were aware of ASD and over 60% of these respondents knew someone with ASD in their own family, circle of friends or work colleagues. Generally, knowledge of strengths and challenges faced by individuals with ASD was relatively accurate. However, perceptions of interventions and service provider responsibilities were vague and uncertain. Results show that local and international autism awareness campaigns have largely been successful and that the focus should shift towards disseminating accurate information regarding intervention and service provider responsibilities.

Variants in the 1q21 risk region are associated with a visual endophenotype of autism and schizophrenia

Deficits in sensitivity to visual stimuli of low spatial frequency and high temporal frequency (so-called frequency-doubled gratings) have been demonstrated both in schizophrenia and in autism spectrum disorder (ASD). Such basic perceptual functions are ideal candidates for molecular genetic study, because the underlying neural mechanisms are well characterized; but they have sometimes been overlooked in favor of cognitive and neurophysiological endophenotypes, for which neural substrates are often unknown. Here, we report a genome-wide association study of a basic visual endophenotype associated with psychological disorder. Sensitivity to frequency-doubled gratings was measured in 1060 healthy young adults, and analyzed for association with genotype using linear regression at 642758 single nucleotide polymorphism (SNP) markers. A significant association (P=7.9×10) was found with the SNP marker rs1797052, situated in the 5′-untranslated region of PDZK1; each additional copy of the minor allele was associated with an increase in sensitivity equivalent to more than half a standard deviation. A permutation procedure, which accounts for multiple testing, showed that the association was significant at the α=0.005 level. The region on chromosome 1q21.1 surrounding PDZK1 is an established susceptibility locus both for schizophrenia and for ASD, mirroring the common association of the visual endophenotype with the two disorders. PDZK1 interacts with N-methyl-d-aspartate receptors and neuroligins, which have been implicated in the etiologies of schizophrenia and ASD. These findings suggest that perceptual abnormalities observed in two different disorders may be linked by common genetic elements. © 2013 John Wiley & Sons Ltd and International Behavioural and Neural Genetics Society.