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Article
Publication date: 1 September 2007

Jeremy Turk

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…

Abstract

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.

Details

Advances in Mental Health and Learning Disabilities, vol. 1 no. 3
Type: Research Article
ISSN: 1753-0180

Keywords

Article
Publication date: 19 June 2021

Jacques Bellavance, Morin Diane and Catherine Mello

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…

Abstract

Purpose

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.

Design/methodology/approach

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.

Findings

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

Originality/value

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.

Details

Advances in Mental Health and Intellectual Disabilities, vol. 15 no. 2/3
Type: Research Article
ISSN: 2044-1282

Keywords

Article
Publication date: 15 July 2011

Gregory O'Brien and Ruth Bevan

This paper seeks to discuss the complexity of the relationship between genotype and phenotype and highlight the importance of a greater understanding of behavioural…

384

Abstract

Purpose

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.

Design/methodology/approach

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.

Findings

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.

Originality/value

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.

Details

Advances in Mental Health and Intellectual Disabilities, vol. 5 no. 4
Type: Research Article
ISSN: 2044-1282

Keywords

Book part
Publication date: 25 March 2011

Evan Charney

Political scientists have taken up behavior genetics (BG) at a momentous time in the science of genetics. Momentous, because the science of genetics is undergoing a…

Abstract

Political scientists have taken up behavior genetics (BG) at a momentous time in the science of genetics. Momentous, because the science of genetics is undergoing a paradigm shift [Petronis, A. (2010). Epigenetics as a unifying principle in the aetiology of complex traits and diseases. Nature, 465(7299), 721–727]. This shifting paradigm poses a significant challenge to both the prevailing methodologies of behavior genetics – twin, family, adoption studies – and one of the most noteworthy findings to emerge from such studies, that is, which we can call the principle of minimal parental effects. This is the supposition that the effect of the shared parental rearing environment on the behavioral phenotypes of offspring is statistically equivalent to zero (Plomin & Daniels, 1987). It is not uncommon nowadays to find twin, adoption, and family studies utilized in the study of political behavior (e.g., Alford, J., Funk, C. L., & Hibbing, J. R. (2005). Are political orientations genetically transmitted? American Political Science Review, 99(2), 153–167.); likewise, the principle of minimal parental effects is frequently invoked in such studies (e.g., Mondak, J. J., Hibbing, M. V., Canache, D., Seligson, M. A., & Anderson, M. A. (2010). Personality and civic engagement: An integrative framework for the study of trait effects on political behavior. American Political Science Review, 104(1), 85–110.). As we shall see, the challenge comes from recent discoveries in genetics that are radically transforming our understanding of the genome and its relationship to environment.

Details

Biology and Politics
Type: Book
ISBN: 978-0-85724-580-9

Article
Publication date: 15 July 2011

Lynne Zwink

– This paper presents the viewpoint of a parent of two children with Fragile X syndrome.

156

Abstract

Purpose

This paper presents the viewpoint of a parent of two children with Fragile X syndrome.

Design/methodology/approach

The paper presents the author's views of her and her family's experience of Fragile X syndrome.

Findings

The paper provides the author's perspective on the impact that the condition has had on family life.

Originality/value

The paper provides a unique insight into the day-to-day experiences of a parent of two children with Fragile X syndrome.

Details

Advances in Mental Health and Intellectual Disabilities, vol. 5 no. 4
Type: Research Article
ISSN: 2044-1282

Keywords

Article
Publication date: 4 January 2016

Marco O. Bertelli, Michele Rossi, Roberto Keller and Stefano Lassi

The management of individuals with autism spectrum disorders (ASDs) requires a multimodal approach of behavioural, educational and pharmacological treatments. At present…

Abstract

Purpose

The management of individuals with autism spectrum disorders (ASDs) requires a multimodal approach of behavioural, educational and pharmacological treatments. At present, there are no available drugs to treat the core symptoms of ASDs and therefore a wide range of psychotropic medications are used in the management of problems behaviours, co-occurring psychiatric disorders and other associated features. The purpose of this paper is to map the literature on pharmacological treatment in persons with ASD in order to identify those most commonly used, choice criteria, and safety.

Design/methodology/approach

A systematic mapping of the recent literature was undertaken on the basis of the following questions: What are the most frequently used psychoactive compounds in ASD? What are the criteria guiding the choice of a specific compound? How effective and safe is every psychoactive drug used in ASD? The literature search was conducted through search engines available on Medline, Medmatrix, NHS Evidence, Web of Science and the Cochrane Library.

Findings

Many psychotropic medications have been studied in ASDs, but few have strong evidence to support their use. Most commonly prescribed medications, in order of frequency, are antipsychotics, antidepressants, anticonvulsants and stimulants, many of them without definitive studies guiding their usage. Recent animal studies can be useful models for understanding the common pathogenic pathways leading to ASDs, and have the potential to offer new biologically focused treatment options.

Originality/value

This is a practice review paper applying recent evidence from the literature.

Details

Advances in Mental Health and Intellectual Disabilities, vol. 10 no. 1
Type: Research Article
ISSN: 2044-1282

Keywords

Article
Publication date: 15 July 2011

Katherine Zwink

– The purpose of this paper is to present the viewpoint of someone with Fragile X syndrome.

180

Abstract

Purpose

The purpose of this paper is to present the viewpoint of someone with Fragile X syndrome.

Design/methodology/approach

The paper presents the author's views and experiences of living with Fragile X syndrome.

Findings

The paper provides the author's perspective on diagnosis, the impact on family life, dealing with stigma and the effect that the condition had on school, college, work and interactions with other people.

Originality/value

The paper provides a unique insight into the day-to-day experiences of living with Fragile X syndrome.

Details

Advances in Mental Health and Intellectual Disabilities, vol. 5 no. 4
Type: Research Article
ISSN: 2044-1282

Keywords

Article
Publication date: 1 September 2007

Laura Freeman and Jeremy Turk

This article focuses on the consequences of having FraX‐E, the rare but well recognised variant of fragile X syndrome. The authors provide some background on the condition…

Abstract

This article focuses on the consequences of having FraX‐E, the rare but well recognised variant of fragile X syndrome. The authors provide some background on the condition and report on recent research and evidence. Three case reports are outlined and the specific behavioural aspects of the syndrome are considered. The authors argue that it is important that the behavioural phenotype for FraX‐E is clearly identified and defined in order to give those with the condition relevant psychological and educational support in the future.

Details

Advances in Mental Health and Learning Disabilities, vol. 1 no. 3
Type: Research Article
ISSN: 1753-0180

Keywords

Article
Publication date: 3 July 2017

Michael Seidel

People with fragile X syndrome (FXS), a monogenetic disorder with frequent autism spectrum disorder symptoms, are confronted with many health-related needs, especially…

Abstract

Purpose

People with fragile X syndrome (FXS), a monogenetic disorder with frequent autism spectrum disorder symptoms, are confronted with many health-related needs, especially concerning behavioural and mental problems. The number of publications about health inequalities or the usage of health services in persons with FXS is scarce in general. There is no information about the situation in Germany. The paper aims to discuss this issue.

Design/methodology/approach

Assessment of health status, access to, and satisfaction with health care in people with fragile X by a questionnaire completed by their parents.

Findings

A total of 74 questionnaires were included in the assessment. While children and adolescents with FXS often (40 per cent) utilised specialised services for the coordination of health-related services, adults most often made use of family doctors. Most parents described the health status of their relatives as good to excellent (89 per cent). However, the satisfaction with health care-related demands by family doctors, medical specialists, and psychotherapists was rated in the average to above average range.

Research limitations/implications

This paper is of special value as it gives insight into the perspective of parents concerning access to health care of FXS in Germany.

Originality/value

This paper gives a first insight concerning access of people with FXS to the German health care system.

Details

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

Keywords

Book part
Publication date: 19 November 2014

Gail Blattenberger, Richard Fowles and Peter D. Loeb

This paper examines variable selection among various factors related to motor vehicle fatality rates using a rich set of panel data. Four Bayesian methods are used. These…

Abstract

This paper examines variable selection among various factors related to motor vehicle fatality rates using a rich set of panel data. Four Bayesian methods are used. These include Extreme Bounds Analysis (EBA), Stochastic Search Variable Selection (SSVS), Bayesian Model Averaging (BMA), and Bayesian Additive Regression Trees (BART). The first three of these employ parameter estimation, the last, BART, involves no parameter estimation. Nonetheless, it also has implications for variable selection. The variables examined in the models include traditional motor vehicle and socioeconomic factors along with important policy-related variables. Policy recommendations are suggested with respect to cell phone use, modernization of the fleet, alcohol use, and diminishing suicidal behavior.

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