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Heritability studies attempt to estimate the contribution of genes (vs. environments) to variation in phenotypes (or outcomes of interest) in a given population at a given time. This chapter scrutinizes heritability studies of adverse health phenotypes, emphasizing flaws that have become more glaring in light of recent advances in the life sciences and manifest most visibly in epigenetics.

Drawing on a diverse body of research and critical scholarship, this chapter examines the veracity of methodological and conceptual assumptions of heritability studies.

The chapter argues that heritability studies are futile for two reasons: (1) heritability studies suffer from serious methodological flaws with the overall effect of making estimates inaccurate and likely biased toward inflated heritability, and, more importantly (2) the conceptual (biological) model on which heritability studies depend – that of identifiably separate effects of genes versus the environment on phenotype variance – is unsound. As discussed, contemporary bioscientific work indicates that genes and environments are enmeshed in a complex (bidirectional, interactional), dynamic relationship that defies any attempt to demarcate separate contributions to phenotype variance. Thus, heritability studies attempt the biologically impossible. The emerging research on the importance of microbiota is also discussed, including how the commensal relationship between microbial and human cells further stymies heritability studies.

Understandably, few sociologists have the time or interest to be informed about the methodological and theoretical underpinnings of heritability studies or to keep pace with the incredible advances in genetics and epigenetics over the last several years. The present chapter aims to provide interested scholars with information about heritability and heritability estimates of adverse health outcomes in light of recent advances in the biosciences.

Organizational studies fail to examine organizations in terms of the several environments in which they operate, both internally and externally. That is, studies tend to focus on climate, or time, or trust, or leadership. This chapter builds on academic research that discusses organizational environments in ways that show all of these environments are important for organizational understanding, especially for organizational leadership. In particular, this chapter offers a paradigm of understanding organizational leadership realities through multi-level understanding of the organizational environments of climate, knowledge, ethnos, and time.

The chapter first discusses five enviroscapes – climate, knowledge, ethos, time, and leadership. Each of these enviroscapes has two phenotypes – business and commerce. Each of these enviroscapes, with its concomitant phenotypes, is used differently at multiple levels of management and leadership by senior managers, middle managers, and entry-level managers. The scope of organizational reach, in terms of global, regional, and local levels of analysis, provides additional context for the use of enviroscapes. After a review of the theoretical bases for each enviroscape, the chapter applies appropriate theory and models to an extended time case study of land purchase in Indonesia.

This paper seeks to discuss the complexity of the relationship between genotype and phenotype and highlight the importance of a greater understanding of behavioural phenotypes in genetic syndromes. The aim is to explore the developmental trajectory of the behavioural phenotypes as individuals emerge from childhood into adulthood and beyond.

Information was gathered from a search of the relevant literature over the past 20 years using Medline and PsycINFO databases in May 2010 as well as information published in textbooks on this matter.

The outcomes were considered under five areas of functioning: cognition, communication, behaviour, social functioning and propensity to psychiatric illnesses. The research thus far suggests that outcomes in behavioural phenotypes in adults are extremely variable. Individual predictions are difficult to make. However, some trends do emerge.

Findings of particular interest are the rates of attention deficit hyperactivity disorder and autism spectrum conditions and how these change over the developmental trajectory. The paper highlights the need for further research in this area and discusses the need to view behavioural phenotypes as a continuum across the lifespan.

The behavioral phenotype of fragile X syndrome (FXS) and intellectual disability (ID) proposed by Hagerman et al. (2009) was primarily based on data from male children and teens. The purpose of this study was to promote a better understanding of how this condition manifests in adults.

A total of 18 men of FXS were paired with men with Down syndrome on the basis of age and level of ID. A screening checklist was created on the basis of existing scales and the Hagerman et al. (2009) behavioral phenotype and completed by care providers.

Five of the 12 features of the phenotype were significantly more present among men with FXS than in men with Down syndrome.

This study provides partial confirmation for Hagerman et al.’s (2009) behavioral phenotype of FXS among men with moderate ID and identified some traits that warrant further investigation.

Recent research has proposed a specific female phenotype within autism spectrum disorder (ASD). It suggests females exhibit differences in social communication styles with higher levels of camouflaging and compensatory strategies, as well as variance in restrictive repetitive behaviours (RRBs); however, many existing studies have been based on either small, disproportionate or child and adolescent samples, leaving questions about the specific phenotype. This study aims to explore the sex difference and phenotype in a clinic sample of individuals diagnosed with autism.

A service evaluation of sex/ gender differences on 150 historical ASD assessment reports (75 males, 75 females) using a 103-item questionnaire developed from a quantitative review of existing literature was undertaken.

Females camouflaged more significantly than males in five different areas (thinking how to act next, preparing conversation in advance, making lists of prompts/social responses, wearing a mask/acting, less monotone voice); however, these were not maintained in post-analysis correction.

This study points the evidence towards a different phenotype of Autism that is more common in women than men rather than a unique female phenotype.

Autism spectrum disorders (ASD) are heterogeneous disorders, and heterogeneity lies both at genetic and phenotypic levels. To better understand the etiology and pathway that may contribute to autism symptomatology, it is important to study milder expressions of autism characteristics – autistic traits or milder expressions of autism phenotype, especially in intergenerational context. This study aims to see the trend of association, if any, between child autism symptom and mothers’ autism phenotype as well as mothers’ theory of mind and to see if mothers’ theory of mind was associated with their own autistic traits.

Data were collected from 96 mothers of children with varying symptom severity of autism (mild, moderate and severe) using Autism Spectrum Quotient and faux pas recognition test. Analysis of variance, trend analysis and t-test were done.

Results showed a linear trend of relationship between mothers’ autism phenotype and child symptom severity. However, the groups did not have significant differences in theory of mind. Only a few components of theory of mind were found to be associated with autistic traits. These findings question the prevailing idea that theory of mind can be a reliable endophenotype of autism.

There has been a lack of research assessing the possible link between parents’ autism phenotype and symptom severity of ASD children. This study is a preliminary step towards that direction. This study indicates a probability of shared genetic liability between mothers and offspring, which would have important consequences for understanding the mechanisms that lead to autism.

This study offers implications for treatment planning of those with clinical ASD. An awareness of parental factors is critical for any holistic intervention plan when a family seeks treatment for their child. This study suggests that while individualising interventions, clinicians may consider possible presence of high levels of autistic traits and related cognitive features present in the probands’ parents.

There has been lack of research assessing the possible link between parents’ autism phenotype and symptom severity of ASD children. This study, even though preliminary, is a step towards that direction. This study suggests that autism traits might be influenced by common genetic variation and indicates a probability of shared genetic liability between mothers and offspring, which would have important consequences for understanding the mechanisms that lead to autism.

The area of behavioural phenotype research and related clinical practice is now recognised as one of high relevance to all practitioners who help people with learning disabilities, whatever their age. Knowledge continues to accumulate rapidly regarding aspects pertaining to aetiology, likely developmental, emotional and behavioural challenges, useful multidisciplinary interventions and supports and long‐term prognosis. This paper reviews the concept, its history and recent developments, focusing on those aspects which are of particular importance to clinical and other care and support professionals and their clients. There is a continuing need for widespread dissemination of the large body of relevant information, and its application to practice in order to maximise benefits for people with learning disabilities and their families.

Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by distinctive facial features, growth retardation, limb abnormalities, intellectual disability, and behavioral problems. Cornelia de Lange syndrome is associated with abnormalities on chromosomes 5, 10 and X. Heterozygous point mutations in three genes (NIPBL, SMC3 and SMC1A), are responsible for approximately 50-60% of CdLS cases. CdLS is characterized by autistic features, notably excessive repetitive behaviors and expressive language deficits. The prevalence of autism spectrum disorder (ASD) symptomatology is comparatively high in CdLS. However, the profile and developmental trajectories of these ASD characteristics are potentially different to those observed in individuals with idiopathic ASD. A significantly higher prevalence of self-injury are evident in CdLS. Self-injury was associated with repetitive and impulsive behavior. This study describes the behavioral phenotype of four children with Cornelia de Lange syndrome and ASDs and rehabilitative intervention that must be implemented.