Autism spectrum mixed neurodevelopmental disorder associated with 6q27 deletion and multiple copies within 20q11.23: a case study

2014 ◽  
Vol 8 (3) ◽  
pp. 210-215
Author(s):  
Stephen Hopkins ◽  
Jeremy Turk ◽  
Adeniyi Daramola ◽  
Marinos Kyriakopoulos
Keyword(s):  
Neurodevelopmental Disorder ◽  
Autism Spectrum ◽  
Copy Number Variations ◽  
Comparative Genomic Hybridisation ◽  
Comparative Genomic ◽  
Content Type ◽  
Effective Strategies ◽  
Wide Range ◽  
Multiple Copies

Purpose – Copy Number Variations (CNVs) are not infrequently observed in aberrant neurodevelopment. CNVs can alter gene expression and have been linked to a wide range of neuropsychiatric disorders. The purpose of this case study is to report the association of CNVs with a mixed neurodevelopmental disorder. Design/methodology/approach – Array-Comparative Genomic Hybridisation analysis was carried out in a case of an eight-year-old boy presenting with a mixed neurodevelopmental disorder including autism spectrum disorder, intellectual disability, tic disorder, anxiety and severe aggression. The child's parents also underwent the same investigation. Findings – A 6q27 deletion and multiple copies within 20q11.23 were identified. The boy's father shared the 6q27 deletion and his mother also had multiple copies within 20q11.23. Originality/value – This is the first report linking the combination of 6p27 and 20q11 CNVs with a mixed neurodevelopmental presentation. Identifying CNVs that may underlie aberrant neurodevelopment is likely to assist in unravelling the aetiology of neurodevelopmental and psychiatric disorders and lead to more effective strategies for their characterisation and management.

Managing integration in infrastructure alliance projects

2017 ◽  
Vol 10 (1) ◽  
pp. 5-31 ◽  
Author(s):  
Anna-Maija Hietajärvi ◽  
Kirsi Aaltonen ◽  
Harri Haapasalo
Keyword(s):  
Construction Projects ◽  
Research Approach ◽  
Content Type ◽  
Complex Projects ◽  
Wide Range ◽  
Project Organizations ◽  
Integration Mechanisms ◽  
Organizational Integration ◽  
Time Critical

Purpose The effective management of inter-organizational integration is central to complex projects. Such projects pose significant challenges for integration, as organizations struggle with constantly changing inter-organizational interdependencies and must develop and adapt integration mechanisms to meet new demands. The purpose of this paper is to understand what kinds of integration mechanisms are used and how they are developed and adjusted during the infrastructure alliance projects. Design/methodology/approach This study provides empirical evidence of integration dynamics in project alliancing by analyzing two infrastructure alliance projects – a complex tunnel construction project and a railway renovation project. The research approach is an inductive case study. Findings This paper identifies integration mechanisms adopted in two case projects and three central triggers that led to changes in the integration mechanisms: project lifecycle phase, unexpected events and project team’s learning during the project. Practical implications Integration capability should be a precondition for alliance project organizations and requires the adoption of a wide range of integration mechanisms, as well as an ability to adjust those mechanisms in response to everyday dynamics and emergent situations. Originality/value Although unplanned contingencies and the responses to them represent important influences in organizations, there is limited amount of research on the dynamics of integration. The findings will be of value in supporting the management of inter-organizational integration in complex, uncertain and time-critical construction projects.

Online self-radicalisation: a case study of cognitive vulnerabilities for radicalization to extremism and single actor terrorism

2021 ◽  
Vol ahead-of-print (ahead-of-print) ◽  
Author(s):  
Ryan Little ◽  
Peter Ford ◽  
Alessandra Girardi
Keyword(s):  
Single Case ◽  
Psychometric Testing ◽  
Autism Spectrum ◽  
Internet Technology ◽  
Online Activity ◽  
Content Type ◽  
Cognitive Vulnerabilities ◽  
Clinical Interviews ◽  
Psychological Risk

Purpose Understanding the psychological risk factors in radicalisation and terrorism is typically limited by both a lack of access to individuals who carry out the acts and those who are willing to engage in research on the matter. The purpose of this study is to describe the process of self-radicalisation of an otherwise law-abiding individual who engaged in single-actor terrorism activities. Design/methodology/approach A single case study, based on clinical interviews and psychometric testing, of an individual with autism who engaged in multiple acts of terrorism through online activity. The case is presented within existing frameworks of radicalisation, and describes how it developed along the steps described in the path to intended violence. Findings A number of variables are identified as contributing towards the individual’s vulnerability to radicalisation, such as deficits in higher order cognition, psychopathology, autism spectrum disorder traits, personal interests, social isolation and life stressors. Originality/value Unique to this study is how the process of radicalisation and the possibility to carry out the individual’s attacks was made possible only through the use of internet technology.

The institutional challenges of scaling-up housing retrofit: the Swiss cities of Basel and Sion

Facilities ◽  
2019 ◽  
Vol 37 (11/12) ◽  
pp. 780-798
Author(s):  
Arian Mahzouni
Keyword(s):  
Built Environment ◽  
Energy Supply ◽  
Alternative Energy ◽  
Residential Buildings ◽  
Energy Transition ◽  
Scaling Up ◽  
Housing System ◽  
Content Type ◽  
Wide Range

Purpose This paper aims to discuss the nexus between two societal (sub) systems of housing and energy supply to shed new light on the key institutional barriers to socio-technical energy transition in the built environment. The key research question is to explore if and how key patterns of institutional elements associated with energy retrofit and energy supply are combined, co-evolved and played out in the housing system, leading to an alternative energy transition pathway in the built environment. Design/methodology/approach A comparative case study of residential buildings in the Swiss cities of Basel and Sion is conducted to map retrofitting policies and practices in a wide range of buildings (e.g. multi-family and single family) that each requires a particular constellation of institutions, actors and artefacts. Findings The key finding is that the regulative institutions support energy transition in each urban form/housing type. However, the co-evolution with normative and cultural-cognitive institutions does not play out very clearly in the housing system. One reason is that the norms and cultures are deeply rooted in the practices exercised by business community and households and therefore they need a longer time frame to adapt to a new regulation. Research limitations/implications The policies and actions to increase the rate of housing retrofit are discussed in the specific socio-political context of Switzerland. Therefore, the results of this study might not be applied in other contexts with different conditions, limiting the possibility for analytical generalization. The case study can generate only context-specific knowledge, which might be valuable only to cities with similar conditions. This paper addresses theoretical, methodological and policy challenges in scaling-up retrofit projects by taking a holistic and integrated approach to the systems of housing and energy supply. Practical implications It would have been necessary to find out how the introduction and enforcement of new energy policies and regulations (regulative institutions) have changed the norms and building practices (normative institutions) used by actors from housing industry and the attitudes and energy consumption behaviour of the households (cultural-cognitive institutions). Nevertheless, information about normative and cultural-cognitive institutions require more primary data in the form of interviews with organizations and households, respectively, which goes beyond the scope and resources of this study. Originality/value Insights from different strands of literature (institutions and sustainability transition) are combined to understand if and how retrofitting practices go along with other elements of urban sustainability including architectural, technical, socio-cultural and economic factors.

scholarly journals Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Olafur O. Gudmundsson ◽  
G. Bragi Walters ◽  
Andres Ingason ◽  
Stefan Johansson ◽  
Tetyana Zayats ◽  
...  
Keyword(s):  
Attention Deficit Hyperactivity Disorder ◽  
Attention Deficit ◽  
Neurodevelopmental Disorders ◽  
Copy Number ◽  
Neurodevelopmental Disorder ◽  
Copy Number Variant ◽  
Pleiotropic Effect ◽  
Autism Spectrum ◽  
Copy Number Variations ◽  
Hyperactivity Disorder

Abstract Attention-deficit/hyperactivity disorder (ADHD) is a highly heritable common childhood-onset neurodevelopmental disorder. Some rare copy number variations (CNVs) affect multiple neurodevelopmental disorders such as intellectual disability, autism spectrum disorders (ASD), schizophrenia and ADHD. The aim of this study is to determine to what extent ADHD shares high risk CNV alleles with schizophrenia and ASD. We compiled 19 neuropsychiatric CNVs and test 14, with sufficient power, for association with ADHD in Icelandic and Norwegian samples. Eight associate with ADHD; deletions at 2p16.3 (NRXN1), 15q11.2, 15q13.3 (BP4 & BP4.5–BP5) and 22q11.21, and duplications at 1q21.1 distal, 16p11.2 proximal, 16p13.11 and 22q11.21. Six of the CNVs have not been associated with ADHD before. As a group, the 19 CNVs associate with ADHD (OR = 2.43, P = 1.6 × 10−21), even when comorbid ASD and schizophrenia are excluded from the sample. These results highlight the pleiotropic effect of the neuropsychiatric CNVs and add evidence for ADHD, ASD and schizophrenia being related neurodevelopmental disorders rather than distinct entities.

scholarly journals Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features

2014 ◽  
Vol 2014 ◽  
pp. 1-6 ◽  
Author(s):  
Jennifer L. Roberts ◽  
Stephanie K. Gandomi ◽  
Melissa Parra ◽  
Ira Lu ◽  
Chia-Ling Gau ◽  
...  
Keyword(s):  
De Novo ◽  
Abdominal Ultrasound ◽  
Autism Spectrum ◽  
Copy Number Variations ◽  
Comparative Genomic ◽  
Clinical Report ◽  
Snp Analysis ◽  
New Genotype ◽  
Compulsive Behaviors ◽  
Oppositional Defiance

Copy number variations involving the 17q12 region have been associated with developmental and speech delay, autism, aggression, self-injury, biting and hitting, oppositional defiance, inappropriate language, and auditory hallucinations. We present a tall-appearing 17-year-old boy with marfanoid habitus, hypermobile joints, mild scoliosis, pectus deformity, widely spaced nipples, pes cavus, autism spectrum disorder, intellectual disability, and psychiatric manifestations including physical and verbal aggression, obsessive-compulsive behaviors, and oppositional defiance. An echocardiogram showed borderline increased aortic root size. An abdominal ultrasound revealed a small pancreas, mild splenomegaly with a 1.3 cm accessory splenule, and normal kidneys and liver. A testing panel for Marfan, aneurysm, and related disorders was negative. Subsequently, a 400 K array-based comparative genomic hybridization (aCGH) + SNP analysis was performed which identified ade novosuspected pathogenic deletion on chromosome 17q12 encompassing 28 genes. Despite the limited number of cases described in the literature with 17q12 rearrangements, our proband’s phenotypic features both overlap and expand on previously reported cases. Since syndrome-specific DNA sequencing studies failed to provide an explanation for this patient’s unusual habitus, we postulate that this case represents an expansion of the 17q12 microdeletion phenotype. Further analysis of the deleted interval is recommended for new genotype-phenotype correlations.

The vegan shift in the Australian animal movement

2020 ◽  
Vol ahead-of-print (ahead-of-print) ◽  
Author(s):  
Nick Pendergrast
Keyword(s):  
Animal Studies ◽  
Animal Movement ◽  
Sociological Theory ◽  
Environmental Benefits ◽  
Critical Animal Studies ◽  
Content Type ◽  
Academic Literature ◽  
Wide Range ◽  
Resource Mobilisation

PurposeThis article explores the different ways in which the vegan turn within the animal advocacy movement in Australia has played out for two organisations, Animal Liberation Victoria (ALV) and Animals Australia. Previous research has found that this promotion of veganism has occurred to varying degrees for different organisations and this article will analyse some of these variations in greater depth, drawing on the sociological theory of resource mobilisation.Design/methodology/approachThis article provides a case study on the campaigning of ALV and Animals Australia on the issue of the dairy industry, as well as an overview of their histories, with a focus on the changing level of vegan campaigning over time. In order to explore this issue, this article will draw on the campaigning materials of the organisations studied, a wide range of academic literature and interviews with key figures from both of these organisations.FindingsLarger organisations have a limited ability to regularly promote a vegan message due to their need to bring in a large amount of resources to sustain costs such as their office costs and paid staff. It is more grassroots organisations that have far greater scope to consistently and strongly promote a vegan message, although they reach fewer people.Social implicationsThe increasing uptake of veganism will have important implications for animals as well as for human health and the environment. The environmental benefits of veganism become even more significant in light of the urgent need to tackle the substantial threat of climate change.Originality/valueThis article is a contribution to the expanding field of critical animal studies as well as to the literature on sociology and animals. It builds on the limited amount of existing sociological literature on vegan activism and contributes an analysis in Australian context.

ASD, OCD and violence – a forensic case study

2020 ◽  
Vol 11 (1) ◽  
pp. 1-8
Author(s):  
Holly Edwards ◽  
Lorraine Higham
Keyword(s):  
Emotional Regulation ◽  
Aggressive Behaviour ◽  
Psychological Treatment ◽  
Autism Spectrum ◽  
Complex Case ◽  
Obsessive Compulsive ◽  
Content Type ◽  
Compulsive Disorder ◽  
Offending Behaviour

Purpose The purpose of this paper is to illustrate the formulation and psychological treatment of a complex case whereby a combination of autism spectrum disorder (ASD) and obsessive compulsive disorder (OCD) has resulted in violent and aggressive behaviour. Design/methodology/approach This paper provides a brief summary of literature in relation to ASD, OCD and risk-offending behaviour followed by a case study of a man (referred to as “John”) with a diagnosis of ASD and OCD who has an extensive history of institutional violence and aggressive behaviour. Findings This paper highlights the complexity of a case that may support research suggesting that impaired theory of mind, poor emotional regulation and problems with moral reasoning increase the risk of an individual with ASD engaging in violence, in addition to a comorbidity of ASD and OCD resulting in a more severe and treatment-resistant form of OCD. Originality/value This paper highlights the challenges faced when working with a patient with Asperger’s syndrome and OCD with entrenched beliefs that lead to the use of violence as a compulsion to temporarily overcome unpleasant thoughts related to low self-esteem.

Knowledge transfer in Hero Motor Corp Ltd.

2014 ◽  
Vol 13 (6) ◽  
pp. 260-263
Author(s):  
Geeta Rana ◽  
Alok Kumar Goel ◽  
Ajay Kumar Saini
Keyword(s):  
Knowledge Transfer ◽  
Strategic Alliances ◽  
Strategic Alliance ◽  
Influencing Factor ◽  
Transfer Of Knowledge ◽  
Content Type ◽  
Wide Range ◽  
The Us ◽  
Cross Country

Purpose – This paper aims to examine the issues of knowledge transfer in international strategic alliance within Hero Moto Corp. Ltd., an Indian multinational company. International Strategic alliances have been increasing in numbers in the past decades and transfer of knowledge and its transfer in multinational companies is wider debate. The case explores the complex issues involved in cross-organization and cross-country transfer of knowledge. The company has forged a strategic alliance with the US-based Erik Buell Racing for accessing technology and design inputs. Design/methodology/approach – It presents a structured case study that examines a wide range of knowledge transfer issues of international strategic alliance. Findings – It reveals that a major influencing factor is the national culture of the parents and that of the host country which provides the context with in which alliances are operate. It is also explored the ways in which the multi-parentage of strategic alliances influences their Human Resource Management (HRM) policies and practices. Originality/value – It provides plenty of useful information on an issue that affects virtually every employee and organization.

Autism and virtual reality head-mounted displays: a state of the art systematic review

2018 ◽  
Vol 12 (3) ◽  
pp. 101-113 ◽  
Author(s):  
Ryan Bradley ◽  
Nigel Newbutt
Keyword(s):  
Virtual Reality ◽  
Empirical Studies ◽  
Skills Training ◽  
Evidence Base ◽  
Autism Spectrum ◽  
Application Technology ◽  
Content Type ◽  
Wide Range ◽  
Head Mounted Displays ◽  
Autistic Population

Purpose The use of virtual reality (VR) technologies in the education of autistic children has been a focus of research for over two decades. It is argued that this form of technology can provide authentic “real world” contexts that target social and life skills training in safe, controllable and repeatable virtual environments. The development of affordable VR head-mounted displays (HMD), such as Google cardboard and Oculus Rift, has seen a renewed interest in their use for a wide range of applications, including the education of autistic individuals. The paper aims to discuss these issues. Design/methodology/approach A systematic search of electronic databases focussing on empirical studies on the use of VR-HMD for children and adults on the autism spectrum was undertaken. Findings A review of the literature identified a limited number of studies in this field characterised by differences in the type of application, technology used and participant characteristics. Research limitations/implications Whilst there are some grounds for optimism, more research is needed on the use of this technology within educational settings to ensure robust recommendations can be made on the implementation, use and sustainability of this approach. Originality/value This paper is the first to consider the evidence base for the use of VR-HMD technology to support the needs of the autistic population.

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