Causal Models of Clinically Significant Behaviors in Angelman, Cornelia de Lange, Prader-Willi and Smith-Magenis Syndromes

The operant learning theory account of behaviors of clinical significance in people with intellectual disability (ID) has dominated the field for nearly 50 years. However, in the last two decades, there has been a substantial increase in published research that describes the behavioral phenotypes of genetic disorders and shows that behaviors such as self-injury and aggression are more common in some syndromes than might be expected given group characteristics. These cross-syndrome differences in prevalence warrant explanation, not least because this observation challenges an exclusively operant learning theory account. To explore this possible conflict between theoretical account and empirical observation, we describe the genetic cause and physical, social, cognitive and behavioral phenotypes of four disorders associated with ID (Angleman, Cornelia de Lange, Prader-Willi and Smith-Magenis syndromes) and focus on the behaviors of clinical significance in each syndrome. For each syndrome we then describe a model of the interactions between physical characteristics, cognitive and motivational endophenotypes and environmental factors (including operant reinforcement) to account for the resultant behavioral phenotype. In each syndrome it is possible to identify pathways from gene to physical phenotype to cognitive or motivational endophenotype to behavior to environment and back to behavior. We identify the implications of these models for responsive and early intervention and the challenges for research in this area. We identify a pressing need for meaningful dialog between different disciplines to construct better informed models that can incorporate all relevant and robust empirical evidence.

Task-switching deficits and repetitive behaviour in genetic neurodevelopmental disorders: Data from children with Prader-Willi syndrome chromosome 15 q11-q13 deletion and boys with Fragile X syndrome

Prader-Willi syndrome (PWS) and Fragile X syndrome (FraX) are associated with distinctive cognitive and behavioural profiles. We examined whether repetitive behaviours in the two syndromes were associated with deficits in specific executive functions. PWS, FraX, and typically developing (TD) children were assessed for executive functioning using the Test of Everyday Attention for Children and an adapted Simon spatial interference task. Relative to the TD children, children with PWS and FraX showed greater costs of attention switching on the Simon task, but after controlling for intellectual ability, these switching deficits were only significant in the PWS group. Children with PWS and FraX also showed significantly increased preference for routine and differing profiles of other specific types of repetitive behaviours. A measure of switch cost from the Simon task was positively correlated to scores on preference for routine questionnaire items and was strongly associated with scores on other items relating to a preference for predictability. It is proposed that a deficit in attention switching is a component of the endophenotypes of both PWS and FraX and is associated with specific behaviours. This proposal is discussed in the context of neurocognitive pathways between genes and behaviour.

Assessing the effectiveness of a DRA versus DRA with an activity schedule procedure on the reduction of problem behaviour

Differential Reinforcement of Alternative behaviour (DRA) (Athens & Vollmer, 2010; Cooper, Heron, & Heward, 2007) is a procedure that consists in withholding reinforcement for the targeted inappropriate behaviour while reinforcing behaviours, i.e., that have the same function, but socially more acceptable topographies. DRA has repeatedly proven to be effective in reducing problem behaviours in individuals with autism (Campbell, 2003). On the other hand, a number of single-subject research studies have provided evidence for the use of activity schedules as a means to decrease aggressive behaviour (Dooley et al., 2001; Flannery & Hemer, 1994; Lalli, Casey, Goh, & Merlinoet al., 1994). The purpose of the present study was to evaluate the effectiveness of DRA in combination with the use of an activity schedule. We compared the impact of the visual activities schedule used in combination with a DRA procedure versus the impact of the DRA procedure used alone on problem behaviour of a boy diagnosed with an Autism Spectrum Disorder. An alternating treatments design was used to compare the rate of behaviour problems in each of the two treatment conditions. DRA was delivered as treatment A, while the combination of the activities schedule and DRA was treatment B.

Increased Exposure to Rigid Routines can Lead to Increased Challenging Behavior Following Changes to Those Routines

Several neurodevelopmental disorders are associated with preference for routine and challenging behavior following changes to routines. We examine individuals with Prader–Willi syndrome, who show elevated levels of this behavior, to better understand how previous experience of a routine can affect challenging behavior elicited by disruption to that routine. Play based challenges exposed 16 participants to routines, which were either adhered to or changed. Temper outburst behaviors, heart rate and movement were measured. As participants were exposed to routines for longer before a change (between 10 and 80 min; within participants), more temper outburst behaviors were elicited by changes. Increased emotional arousal was also elicited, which was indexed by heart rate increases not driven by movement. Further study will be important to understand whether current intervention approaches that limit exposure to changes, may benefit from the structured integration of flexibility to ensure that the opportunity for routine establishment is also limited.

The Right to Appropriate and meaningful Education for Children with ASD

This paper will explore from a ‘child’s rights perspective’ the ‘right’ of children with autistic spectrum disorder (ASD) to appropriate and meaningful education.Human ‘rights’ principles within international law will be evaluated in relation to how they have been interpreted and applied in relation to achieving this ‘right’. The International Convention of the Rights of the Child (United Nations in Convention on the rights of the child, office of the high commissioner, United Nations, Geneva, 1989) and the convention on the rights of the person with disability (United Nations in Convention on the rights of person’s with disabilities and optional protocol, office of the high commissioner, United Nations, Geneva, 2006) amongst others will be utilised to argue the case for ‘inclusive’educational opportunities to be a ‘right’ of every child on the autistic spectrum. The efficacy of mainstream inclusion is explored, identifying the position that a ‘one size fits all’model of education is not appropriate for all children with ASD.

Navigating and exploring the ASD-friendly landscape

As a society we have a responsibility to provide an inclusive built environment. For those with Autistic Spectrum Disorder (ASD) however, the world can be a frightening, difficult and confusing place. The challenge of integrating more fully into society can be distanced by an alienating built environment. This is particularly debilitating for younger children who can find themselves detached from learning and interaction with their peers by uncomfortable surroundings. Subsequently there has been a growing interest in promoting ASD-friendly environments, especially in a school setting. Strategies to date have generally followed a widely accepted reductionist or generalist approach. However, the authors now contend that there needs to be a greater discussion of what truly constitutes an ASD-friendly environment, in conjunction with investigating what strategies best articulate a progressive approach to supporting those, and especially the young, with ASD in our built environment. Hence this paper first introduces some of the challenges faced by those with ASD in trying to cope with their surroundings. It then outlines a triad of challenges to overcome when considering what truly constitutes an ASD-friendly environment. The authors then highlight the need and advantage of supporting change and adaption in our shared inhabited landscape through providing both choice and reassurance for the child with ASD. It is hoped that by increasing awareness and then questioning what genuinely constitutes an ASD-friendly environment, it might ultimately help facilitate greater inclusion of the ASD child into mainstream education and society at large.

Autistic Functioning and Language Development

This thesis is a retrospective qualitative study based on psychotherapy sessions with children presenting autistic features who use language in atypical ways. The aim was to understand, through the transferential relationship, what psychological context in terms of anxieties and defences prevents the child from using language efficiently. Hypotheses concerning children‘s use of language in the context of their emotional oscillation and evolution during the course of treatment were noted and checked against subsequent developments. They were also triangulated with the outcome of a grounded theory analysis. The grounded theory analysis led to the emergence of higher-level themes that were compared within and across cases and allowed factors surrounding the children‘s use of language to be conceptualized. The grounded theory method was used in parallel with the usual process of evaluation of the dynamics of each session and patient used by psychoanalysts a posteriori and which is part of the researcher‘s background. This procedure was enhanced by the use of Bion‘s Grid, here in a version adapted to the aims of the research. This approach is discussed in detail in the Methodology chapter. The psychoanalytic theoretical background that supported the research was mainly based on the tradition of Object-Relations Theory, particularly the evolution of Kleinian thinking represented by Bion‘s works, and as far as autism is concerned, by Frances Tustin and Donald Meltzer‘s formulations. Concerning the subject of language development, Meltzer‘s explorations on the necessary conditions for its development and the philosopher Wittgenstein‘s investigations on the social function of language were the main influences of this work. The evolution of the children‘s use of language in parallel with their emotional development in the context of their psychotherapies was analyzed and some hypotheses about the oscillations in their emotional and mental functioning were made. The oscillation in the children‘s emotional state, language use and thinking processes was also studied in terms of a general fluctuation between different mental states that was considered to be present in different degrees and quality in mental life and more strongly when there are limitations in communication skills and social interaction. A few excerpts from notes on adolescent and adult cases with autistic features were included in the Discussion Chapters to briefly illustrate this aspect.

A Designer’s Approach: Exploring how Autistic Adults with Additional Learning Disabilities Experience their Home Environment

Autistic adults with limited speech and additional learning disabilities are people whose perceptions and interactions with their environment are unique, but whose experiences are under-explored in design research. This PhD by Practice investigates how people with autism experience their home environment through a collaboration with the autism charity Kingwood Trust, which gave the designer extensive access to a community of autistic adults that it supports. The PhD reflects upon a neurotypical designer’s approach to working with autistic adults to investigate their relationship with the environment. It identifies and develops collaborative design tools for autistic adults, their support staff and family members to be involved. The PhD presents three design studies that explore a person’s interaction with three environmental contexts of the home i.e. garden, everyday objects and interiors. A strengths-based rather than a deficit-based approach is adopted which draws upon an autistic person’s sensory preferences, special interests and action capabilities, to unravel what discomfort and delight might mean for an autistic person; this approach is translated into three design solutions to enhance their experience at home. By working beyond the boundaries of a neurotypical culture, the PhD bridges the autistic and neurotypical worlds of experience and draws upon what the mainstream design field can learn from designing with autistic people with additional learning disabilities. It also provides insights into the subjective experiences of people who have very different ways of seeing, doing and being in the environment

Aquifer recharge in Moura region (South Portugal)

Dissertação de mest., Recursos Hídricos, Faculdade de Ciências e Tecnologia, Univ. do Algarve, 2011

Sex-specific disruption of murine midbrain astrocytic and dopaminergic developmental trajectories following antenatal GC treatment

The mammalian midbrain dopaminergic systems arising in the substantia nigra pars compacta (SNc) and ventral tegmental area (VTA) are critical for coping behaviours and are implicated in neuropsychiatric disorders where early life challenges comprise significant risk factors. Here, we aimed to advance our hypothesis that glucocorticoids (GCs), recognised key players in neurobiological programming, target development within these systems, with a novel focus on the astrocytic population. Mice received antenatal GC treatment (AGT) by including the synthetic GC, dexamethasone, in the mothers' drinking water on gestational days 16-19; controls received normal drinking water. Analyses of regional shapes and volumes of the adult SNc and VTA demonstrated that AGT induced long-term, dose-dependent, structural changes that were accompanied by profound effects on astrocytes (doubling/tripling of numbers and/or density). Additionally, AGT induced long-term changes in the population size and distribution of SNc/VTA dopaminergic neurons, confirming and extending our previous observations made in rats. Furthermore, glial/neuronal structural remodelling was sexually dimorphic and depended on the AGT dose and sub-region of the SNc/VTA. Investigations within the neonatal brain revealed that these long-term organisational effects of AGT depend, at least in part, on targeting perinatal processes that determine astrocyte density and programmed cell death in dopaminergic neurons. Collectively, our characterisation of enduring, AGT-induced, sex-specific cytoarchitectural disturbances suggests novel mechanistic links for the strong association between early environmental challenge (inappropriate exposure to excess GCs) and vulnerability to developing aberrant behaviours in later life, with translational implications for dopamine-associated disorders (such as schizophrenia, ADHD, autism, depression), which typically show a sex bias

Incluir e aprender : o percurso de uma aluno com PEA numa turma de 1º ano

A inclusão de alunos com necessidades educativas especiais nas escolas tem feito um caminho ascendente, de melhoria. Passámos por momentos de segregação e total alheamento a uma educação inclusiva, onde todos os alunos têm um lugar na escola do ensino regular, onde se procura aceitar a diferença e identificar respostas educativas eficazes às suas necessidades de educação específicas. Para que esta inclusão se faça de forma útil e benéfica, têm de existir mudanças quer na escola, quer na sala de aula, optando-se por mudanças metodológicas e organizacionais. É a escola que se adapta aos alunos e não o contrário. Nesse mesmo sentido, o trabalho com alunos com Perturbações do Espectro do Autismo (PEA), não se projecta sempre da mesma forma. Muito embora os traços comuns característicos a esta problemática cada um apresenta as suas especificidades e só observando e entendendo a forma como cada criança aprende, se relaciona e interage, será possível realizar um trabalho eficaz e de sucesso. É neste contexto que se insere o projecto de investigação que se apresenta. Este projecto tem como objectivo apresentar um estudo de caso de um aluno portador de uma Perturbação do Espectro do Autismo. Após a caracterização sócio-educativa, identificam-se os objectivos de intervenção, princípios orientadores da prática educativa, o plano de acção e os pressupostos de avaliação. Os dados de avaliação permitem considerar que toda a intervenção, desde que devidamente planeada e avaliada, se constitui uma mais valia no desenvolvimento de competências sociais e cognitivas dos alunos com PEA. Neste estudo a intervenção procurou ir ao encontro das potencialidades e fragilidades do aluno, numa dinâmica de investigação-acção, onde o ciclo planificação-acção-reflexão permitiu um trabalho mais rigoroso e próximo das reais necessidades do aluno, beneficiando a sua evolução, sobretudo na aquisição de competências sociais.

Práticas curriculares em jardim de infância com crianças com perturbações do espetro do autismo

Dissertação apresentada à Escola Superior de Educação de Lisboa para obtenção do grau de Mestre em Educação - Especialização em Educação Especial

Benefícios de uma intervenção específica em desenvolvimento da linguagem, em crianças diagnosticadas com “espectro do autismo”

Dissertação Apresentada à Escola Superior de Educação de Lisboa para obtenção de grau de mestre em Ciências da Educação - Especialidade em Intervenção Precoce

Famílias de crianças com perturbações do espectro do autismo: contributos para a compreensão das suas necessidades

Dissertação apresentada à Escola Superior de Educação de Lisboa para a obtenção do grau de Mestre em Ciências da Educação - Especialização em Intervenção Precoce