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Article
Publication date: 4 April 2016

Charlotte Tye, Kandice Varcin, Patrick Bolton and Shafali Spurling Jeste

Tuberous sclerosis complex (TSC) is a genetic disorder with a high prevalence of autism spectrum disorder (ASD), yet no single genetic, neurological or neurophysiological risk…

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Abstract

Purpose

Tuberous sclerosis complex (TSC) is a genetic disorder with a high prevalence of autism spectrum disorder (ASD), yet no single genetic, neurological or neurophysiological risk marker is necessary or sufficient to increase risk for ASD. This paper aims to discuss the utility of adopting a developmental perspective.

Design/methodology/approach

The increasing number of TSC infants presenting with abnormalities prenatally provides a unique opportunity to study risk pathways to ASD from birth. Here, the authors review findings to date that support the investigation of infants with TSC to further our understanding of typical and atypical development.

Findings

Evidence has accumulated from studies of infants at familial risk for ASD (“baby siblings”) to suggest that early markers of ASD are present in the first year of life. The early waves of prospective studies of infants with TSC indicate dynamic changes in developmental trajectories to ASD and are likely to provide insight into cascading effects of brain “insult” early in development. Emerging evidence of phenotypic and biological homology between syndromic and idiopathic cases of ASD supports the notion of a convergence of risk factors on a final common pathway in ASD.

Originality/value

The delineation of brain-based biomarkers of risk, prediction and treatment response in TSC will be critical in aiding the development of targeted intervention and prevention strategies for those infants at high risk of poorer developmental outcomes.

Details

Advances in Autism, vol. 2 no. 2
Type: Research Article
ISSN: 2056-3868

Keywords

Content available

Abstract

Details

Advances in Autism, vol. 2 no. 2
Type: Research Article
ISSN: 2056-3868

Article
Publication date: 4 April 2016

Lisa Underwood

The purpose of this paper is to provide a brief, descriptive overview of Tuberous Sclerosis Complex (TSC) research with particular reference to studies on Autism Spectrum Disorder…

Abstract

Purpose

The purpose of this paper is to provide a brief, descriptive overview of Tuberous Sclerosis Complex (TSC) research with particular reference to studies on Autism Spectrum Disorder (ASD).

Design/methodology/approach

A search of electronic databases was carried out to identify English language articles on TSC. The literature was explored in more detail with a focus on neurodevelopmental disorders associated with TSC such as ASD.

Findings

The review included 3,679 references. The earliest articles identified were published in the early twentieth century. Since then research on TSC has advanced rapidly and is being carried out worldwide. Just 62 studies have focused on ASD in TSC, although the number of publications is increasing over time.

Research limitations/implications

More research on ASD in TSC is needed to benefit those affected by TSC and the broader ASD scientific community.

Practical implications

Practitioners working with children and adults with ASD should be aware of the wider health issues experienced by those with genetic conditions such as TSC. Similarly, clinicians working with those who have TSC should be aware of the high prevalence of ASD in the group and implications for the way they work with their patients.

Originality/value

This is the first paper to map and characterise the scientific literature on TSC. There remains a focus on the biomedical aspects of TSC with fewer studies on psychosocial/educational or family impacts. The review concludes with recommended research questions for the future.

Details

Advances in Autism, vol. 2 no. 2
Type: Research Article
ISSN: 2056-3868

Keywords

Article
Publication date: 4 April 2016

Helen Willacy

– The purpose of this paper is to describe the impact of having a child with tuberous sclerosis complex (TSC).

Abstract

Purpose

The purpose of this paper is to describe the impact of having a child with tuberous sclerosis complex (TSC).

Design/methodology/approach

The author explains the process her family has been through on their TSC journey.

Findings

Several themes emerge from the author’s story: a lack of awareness about relatively common conditions such as epilepsy; a dearth of accessible information provided to families; delays in identification/assessment and a lack of follow up on parents’ concerns; the wide range in the quality of advice provided from one professional/service to another; the extent to which parents have to advocate for their children and the importance of social support.

Originality/value

Few journal articles explore the impact of complex health conditions on families from their perspective and in their own words. This thought provoking viewpoint piece provides a powerful insight into the reality of having a child with TSC.

Details

Advances in Autism, vol. 2 no. 2
Type: Research Article
ISSN: 2056-3868

Keywords

Article
Publication date: 4 April 2016

Clare Pinkerton Stuart

Tuberous Sclerosis Australia (TSA) is a small rare disease organisation with a large scope. TSA was established in 1981 as a peer support organisation. Since then, its role has…

Abstract

Purpose

Tuberous Sclerosis Australia (TSA) is a small rare disease organisation with a large scope. TSA was established in 1981 as a peer support organisation. Since then, its role has evolved to meet the needs of its members: individuals living with tuberous sclerosis complex (TSC), their families and health professionals. The paper aims to discuss these issues.

Design/methodology/approach

This case study describes the diverse activities of TSA which include, but are not limited to: the provision of information and support services; sponsorship of research and fostering a network of TSC health professionals. The benefits of collaborations forged under the umbrella organisation TSC International are highlighted.

Findings

The case study demonstrates some of the key challenges TSA faces, challenges shared by many similar health charities. These include: funding of health education and promotion activities; working with a large range of health professionals and the challenge of research fatigue.

Originality/value

There is little research published describing the work of small disease specific organisations similar to TSA. This case study provides insight for those collaborating with similar organisations including health professionals and researchers.

Details

Advances in Autism, vol. 2 no. 2
Type: Research Article
ISSN: 2056-3868

Keywords

Article
Publication date: 4 April 2016

Loren Leclezio and Petrus de Vries

Tuberous Sclerosis Complex (TSC) is associated with many learning, behavioural, neurodevelopmental and psychiatric difficulties. Over 90 per cent of those with TSC will have some…

Abstract

Purpose

Tuberous Sclerosis Complex (TSC) is associated with many learning, behavioural, neurodevelopmental and psychiatric difficulties. Over 90 per cent of those with TSC will have some of these concerns, yet typically no more than 20 per cent receive support and treatment. The purpose of this paper is to provide an overview of TSC-Associated Neuropsychiatric Disorders (TAND), explore barriers to identification and management of TAND, and propose possible next steps to improve assessment and treatment of TAND.

Design/methodology/approach

The paper combines a brief review of the multiple levels of TAND with a conceptual analysis of barriers and potential facilitators to assessment and intervention for TAND.

Findings

Results suggest that the perceived uniqueness of TAND leads to treatment paralysis for most healthcare professionals, thus explaining the assessment and treatment gap seen for TAND. This may in part be due to the multi-dimensionality of TAND, and in part due to lack of access to clear, useful and evidence-based resources for TAND.

Research limitations/implications

Identification of natural TAND clusters through machine-based learning and data reduction methodologies may yield a manageable number of natural groups of TSC-related neuropsychiatric problems, for which a basic “toolkit” of evidence-based interventions could be developed.

Practical implications

Families and clinicians will benefit from a toolkit of tried and tested resources and evidence-based information to guide further investigation and management of TAND.

Originality/value

Even though individuals will have unique TAND profiles, there may be key natural TAND clusters – combinations of behaviours across multi-dimensional levels – that will simplify and improve access to further evaluation, treatment and neuroscientific research.

Content available
Article
Publication date: 2 June 2022

Eddie Chaplin, Jane McCarthy, Samuel Tromans and Verity Chester

257

Abstract

Details

Advances in Autism, vol. 8 no. 3
Type: Research Article
ISSN: 2056-3868

Article
Publication date: 12 March 2018

Mille Mortensen and Charlotte Andreas Baarts

The purpose of this paper is to explore the interplay of organizational humorous teasing and workplace bullying in hospital work life in order to investigate how workplace…

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Abstract

Purpose

The purpose of this paper is to explore the interplay of organizational humorous teasing and workplace bullying in hospital work life in order to investigate how workplace bullying can emerge from doctors and nurses experiences of what, at first, appears as “innocent” humorous interactions.

Design/methodology/approach

Based on an ethnographic field study among doctors and nurses at Rigshospitalet (University Hospital of Copenhagen, Denmark) field notes, transcriptions from two focus groups and six in-depth interviews were analyzed using a cross-sectional thematic analysis.

Findings

This study demonstrates how bullying may emerge out of a distinctive joking practice, in which doctors and nurses continually relate to one another with a pronounced degree of derogatory teasing. The all-encompassing and omnipresent teasing entails that the positions of perpetrator and target persistently change, thereby excluding the position of bystander. Doctors and nurses report that they experience the humiliating teasing as detrimental, although they feel continuously forced to participate because of the fear of otherwise being socially excluded. Consequently, a concept of “fluctuate bullying” is suggested wherein nurses and doctors feel trapped in a “double bind” position, being constrained to bully in order to avoid being bullied themselves.

Originality/value

The present study add to bullying research by exploring and demonstrating how workplace bullying can emerge from informal social power struggles embedded and performed within ubiquitous humorous teasing interactions.

Details

Qualitative Research in Organizations and Management: An International Journal, vol. 13 no. 1
Type: Research Article
ISSN: 1746-5648

Keywords

Book part
Publication date: 24 October 2022

Einav Argaman

Abstract

Details

A Sociological Perspective on Hierarchies in Educational Institutions
Type: Book
ISBN: 978-1-80382-229-7

Article
Publication date: 8 September 2021

Jayne Krisjanous and Christine Hallett

The aim of this paper is to demonstrate how a historical event packaged as an iconic heritage cultural brand can be marketized and modified over time to ensure brand longevity and…

Abstract

Purpose

The aim of this paper is to demonstrate how a historical event packaged as an iconic heritage cultural brand can be marketized and modified over time to ensure brand longevity and continued emotional commitment and loyalty through the leverage of stories and associations more closely aligned with modern-day audiences. The authors do this through examining the marketization of the New Zealand World War 1 (WWI) nurse to today’s audiences. The periods of study are WWI (1914–1918) and then the modern day. The New Zealand Army Nursing Service (NZANS) during WWI has previously had little attention as a key actor in the Australia and New Zealand Army Corp (ANZAC), Today ANZAC is held as pivotal in the birth of New Zealand’s perception of nationhood and as an iconic heritage cultural brand. The history and legend of the ANZAC plays an important role in New Zealand culture and is fundamental to the “Anzac Spirit”, a signifier of what it means to be a New Zealander.

Design/methodology/approach

A historical case study method is used. The primary source of data is 1914–1918, and includes contemporaneous articles, and personal writings: diaries, letters and published memoirs. More contemporary works form the basis for discussion of marketization as it relates to the NZANS. The article first presents conceptual framing, then the development of the Anzac brand and the history of the NZANS and its role in WWI before turning to discussion on the marketization of this nursing service to today’s audiences and as part of the ANZAC/Anzac brand.

Findings

Today the story of the WWI NZANS nurse, previously seldom heard, has been co-opted and is becoming increasingly merged as an integral part of the Anzac story. The history of the NZANS during WWI has a great deal of agency today as part of that story, serving many functions within it and providing a valuable lever for marketization.

Originality/value

To date, there is a scarcity of marketing analysis that examines the marketization of history. By focusing on New Zealand WWI nursing as a contributor to the Anzac story, the authors contribute to the understanding of how marketers package and contemporize history for appeal to audiences through both sustaining and reworking cultural branding.

Details

Journal of Historical Research in Marketing, vol. 14 no. 1
Type: Research Article
ISSN: 1755-750X

Keywords

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