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1 – 10 of 16Konstantinos Kontoangelos, Antonis Maillis, Maria Maltezou, Sofia Tsiori and Charalambos C. Papageorgiou
The 22q11.2 deletion syndrome (di George syndrome) is one of the most prevalent genetic disorders. The clinical features of the syndrome are distinct facial appearance…
Abstract
The 22q11.2 deletion syndrome (di George syndrome) is one of the most prevalent genetic disorders. The clinical features of the syndrome are distinct facial appearance, velopharyngeal insufficiency, conotruncal heart disease, parathyroid and immune dysfunction; however, little is known about possible neurodegenerative diseases. We describe the case of an 18-year old patient suffering from 22q11.2 deletion syndrome. Since adolescence, he presented with behavioral disorders, recommended treatment with 2 mg aloperidin and he presented cervical dystonia and emergence of torticollis and trunk dystonia. Antipsychotic medications either accelerate or reveal dys-tonic symptoms.
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Krister W. Fjermestad, Torun M. Vatne and Helene Gjone
22q11.2 deletion syndrome (22q11.2DS) is a rare genetic syndrome involving high risk of psychiatric disorders with average intellectual functioning in the lower borderline range…
Abstract
Purpose
22q11.2 deletion syndrome (22q11.2DS) is a rare genetic syndrome involving high risk of psychiatric disorders with average intellectual functioning in the lower borderline range. Due to the cognitive and social problems many adolescents with 22q11.2DS experience, adaptions may be needed to teach these adolescents cognitive behavioral therapy (CBT) skills. The purpose of this paper is to assess psychosocial functioning in adolescents with 22q11.2DS and to adapt CBT with this group.
Design/methodology/approach
Totally twelve adolescents (M age=14.5 years, SD=1.4, range 12-17 years; 25 percent boys) with 22q11.2DS were recruited from a competence center for rare disorders. Their parents completed the Child Behavior Checklist and the Kiddie SADS screening interview. The adolescents participated in 7×45-minute CBT group sessions, comprising emotional awareness, cognitive restructuring tasks, and problem-solving skills.
Findings
Adolescents had poor parent-reported social and school functioning at onset. The most frequent disorders indicated by screening interviews were attention deficit hyperactivity disorder (92 percent), anxiety (58 percent), depression (50 percent), autism spectrum disorders (50 percent), and potential post traumatic stress disorder (50 percent).
Practical implications
The main adaptions made to CBT groups were shorter sessions, frequent breaks, and repetition of main points, limited use of written materials and items that could distract participants (e.g. balloons, papers), extensive and explicit use of turn taking, and two adult group facilitators per group.
Originality/value
Offers practical advice on teaching CBT skills to adolescents with 22q11.2DS, which may also be applicable to other adolescents with lower borderline intellectual functioning or intellectual disabilities.
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Candace B. Borders, Amanda Suzuki and David Safani
22q11.2 deletion syndrome (22q11DS) is a risk factor for psychiatric illnesses, including schizophrenia and anxiety. Small studies have shown that several neuroleptic medications…
Abstract
22q11.2 deletion syndrome (22q11DS) is a risk factor for psychiatric illnesses, including schizophrenia and anxiety. Small studies have shown that several neuroleptic medications are effective in treating psychosis in this population, but are also associated with an increased risk of adverse effects - particularly, seizures. In this case, we discuss a 34-year-old patient presenting with late onset schizophrenia, which ultimately led to her diagnosis of 22q11DS. Subsequent management of the patient's psychosis with asenapine was complicated by concurrent anxiety and panic disorder; thus, we examine the role of anxiolytic therapy in conjunction with antipsychotics in this patient population.
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Martine Lappé and Hannah Landecker
This study analyzes the rise of genome instability in the life sciences and traces the problematic of instability as it relates to the sociology of health. Genome instability is…
Abstract
Purpose
This study analyzes the rise of genome instability in the life sciences and traces the problematic of instability as it relates to the sociology of health. Genome instability is the study of how genomes change and become variable between generations and within organisms over the life span. Genome instability reflects a significant departure from the Platonic genome imagined during the Human Genome Project. The aim of this chapter is to explain and analyze research on copy number variation and somatic mosaicism to consider the implications of these sciences for sociologists interested in genomics.
Methodology/approach
This chapter draws on two multi-sited ethnographies of contemporary biomedical science and literature in the sociology of health, science, and biomedicine to document a shift in thinking about the genome from fixed and universal to highly variable and influenced by time and context.
Findings
Genomic instability has become a framework for addressing how genomes change and become variable between generations and within organisms over the life span. Instability is a useful framework for analyzing changes in the life sciences in the post-genomic era.
Research implications
Genome instability requires life scientists to address how differences both within and between individuals articulate with shifting disease categories and classifications. For sociologists, these findings have implications for studies of identity, sociality, and clinical experience.
Originality/value
This is the first sociological analysis of genomic instability. It identifies practical and conceptual implications of genomic instability for life scientists and helps sociologists delineate new approaches to the study of genomics in the post-genomic era.
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Maarten Otter, Constance Stumpel and Therese van Amelsvoort
The purpose of this paper is to establish the value of clinical genetic diagnostics in the lives of people with an intellectual disability (ID), their families, and their primary…
Abstract
Purpose
The purpose of this paper is to establish the value of clinical genetic diagnostics in the lives of people with an intellectual disability (ID), their families, and their primary and professional caregivers. It has been shown that psychologists are more likely to make use of the opportunities offered by clinical genetic diagnostics if they have seen the psychological benefits in their own practice. Moreover, this paper aims to promote the practice of informing people with ID, their families, and other caregivers regarding the current technological advances in genetic diagnostics, thereby allowing these patients to decide for themselves whether to utilise these opportunities.
Design/methodology/approach
The authors report four case studies in which the psychosocial value to each patient is pivotal.
Findings
In these four cases, it is clear the medical model can augment the social model by providing an interpretation of its meaningfulness in the lives of the people concerned.
Research limitations/implications
Case studies alone can have limited scientific significance. This approach examining the significance of clinical genetic diagnosis should be studied further in larger groups.
Practical implications
It is hoped that psychologists and other professional caregivers will become enthused about the value of clinical genetic diagnostics and will choose to discuss the option of referral for clinical genetic diagnostics with their patients more often.
Social implications
People with an ID who are seeking mental health care, and their caregivers, should be given the opportunity to take part in the decision regarding whether to use clinical genetic diagnostics, which may even have a destigmatising effect.
Originality/value
Quality of life may improve for people with an ID seeking mental healthcare and for their caregivers as well by opening up discussion regarding the opportunities presented by clinical genetic diagnostics. The fact that people are able to make their own choices based on their own considerations can have a destigmatising effect.
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Mayumi Hagiwara, Evan E. Dean and Karrie A. Shogren
Researchers have found that enhanced self-determination can contribute to integrated employment and social inclusion outcomes for adults with disabilities. This chapter will…
Abstract
Researchers have found that enhanced self-determination can contribute to integrated employment and social inclusion outcomes for adults with disabilities. This chapter will provide an overview of the Self-determined Career Design Model (SDCDM) and research on its implementation. The SDCDM is an evidence-based career design model implemented by a facilitator (e.g. school professional, community service provider, or any supporter) to enable young people with disabilities to design their career trajectory. The SDCDM has the three phases: (1) set a goal, (2) take action and (3) adjust goal or plan. The SDCDM promotes social inclusion by enabling young people with developmental disabilities to leverage their strengths, interests and resources available to reach self-selected career-related goals. The chapter will specifically consider factors (e.g. culture, family background) that influence the development and expression of self-determination and goal-directed behaviour across the lifespan. A case study of the implementation of the SDCDM with two young women with developmental disabilities who participated in a larger study examining the impact of the SDCDM on employment outcomes will be used to demonstrate the use and impact of the model.
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Sean T. Hannah and David A. Waldman
Behavioral ethics research in the field of management is burgeoning. While many advancements have been made, applying an organizational neuroscience approach to this area of…
Abstract
Behavioral ethics research in the field of management is burgeoning. While many advancements have been made, applying an organizational neuroscience approach to this area of research has the possibility of creating significant new theoretical, empirical, and practical contributions. We overview the major areas of behavioral ethics research concerning moral cognition and conation, and then we concentrate on existing neuroscience applications to moral cognition (moral awareness, moral judgment/reasoning, effects of moral emotions on moral reasoning, and ethical ideology). We also demonstrate the usefulness of neuroscience applications to organizational behavioral ethics research by summarizing a recent study on the neuroscience of ethical leadership. We close by recommending future research that applies neuroscience to topics such as moral development, group ethical judgments and group moral approbation, and moral conation (e.g., moral courage and moral identity). Our overall purpose is to encourage future neuroscience research on organizational behavioral ethics to supplement and/or complement existing psychological approaches.
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