What Causes Specific Language Impairment in Children?

ABSTRACT— Specific language impairment (SLI) is diagnosed when a child's language development is deficient for no obvious reason. For many years, there was a tendency to assume that SLI was caused by factors such as poor parenting, subtle brain damage around the time of birth, or transient hearing loss. Subsequently it became clear that these factors were far less important than genes in determining risk for SLI. A quest to find "the gene for SLI" was undertaken, but it soon became apparent that no single cause could account for all cases. Furthermore, although fascinating cases of SLI caused by a single mutation have been discovered, in most children the disorder has a more complex basis, with several genetic and environmental risk factors interacting. The clearest evidence for genetic effects has come from studies that diagnosed SLI using theoretically motivated measures of underlying cognitive deficits rather than conventional clinical criteria.     

Cognitive and Behavioural Effects of Genetic Testing for Thrombophilia

Very few studies have examined the impact of genetic testing for thrombophilia on health behaviours, perceptions of control over risk factors for venous thromboembolism, or health services utilization. Through a postal questionnaire we compared first degree relatives with thrombophilia (carriers) most of whom had received counseling, to those without (non-carriers) with respect to: (a) perceived causes of venous thromboembolism; (b) perceived control; (c) health behaviour changes; and (d) use of health care services. 44/51 for carriers and 26/47 for non-carriers completed questionnaires. Carriers were more likely to believe their risk of venous thromboembolism 'is a little higher' or 'much higher' than average (p < 0.001) but some continued to believe their risk 'is the same as' or 'lower than' average. 16%-32% of carriers did not recognize major risk factors. Stress, worry, or depression, negative attitude, and over-exertion were over-interpreted as risks. 37.2% did not appreciate that thrombophilia increases risk. Behaviour changes were uncommon. There is a need for research on education and strategies to improve knowledge in thrombophilia carriers.     

Genes, brain, and behavior: Bridging disciplines

With excitement surrounding the publication of the human genome, scientists have set out to uncover the functions of specific genes. This special issue on Genes, Brain, and Behavior attempts to present research strategies that connect major avenues of genetic research across disciplines. For example, anatomical information provided by brain imaging can serve as a convenient link between anatomical abnormalities seen in knockout/transgenic mouse models and abnormal patterns of brain activity seen in certain patient populations. Identifying genetic risk factors for disorders with carefully designed cognitive assays is another strategy that has gained increasing attention. These approaches are being combined with behavioral studies of mouse models of gene function. Alone, each of these approaches provides limited information on gene function in complex human behavior, but together, they are forming bridges between animal models and human psychiatric disorders.     

Preferences Regarding Targeted Education and Risk Assessment in People with a Family History of Major Depressive Disorder

Genetic testing for susceptibility to major depressive disorder (MDD) is not available for clinical use at present. Given this, family history remains the best predictor for development of MDD, and family-history-based risk assessment and information about familial aspects of MDD may be useful to clients at increased risk for MDD attending for genetic counseling. This study uses a mixed-methods design to assess the information needs and preferences of people at increased familial risk for MDD. Telephone interviews were conducted with 23 individuals, who had at least one first-degree relative with MDD and were recruited through advertisements placed on depression education websites. The most preferred way to access depression information was via the internet (87 % of participants), although this preference may have been due to the internet-based recruitment method. The second most preferred dissemination strategy (56 %) was face-to-face delivery through a health professional, including genetic counselors. Individuals reported a need for information about etiology and development of MDD, reproductive decision-making, early detection of symptoms and risk-reducing strategies. Nearly all participants expressed an interest in risk assessment. The present study found evidence of a high level of interest for information targeted to people at increased familial risk for MDD. Genetic counselors are likely to be called upon increasingly to provide supportive counseling to assist clients at increased familial risk in interpreting and contextualizing such information once it becomes available.     

Aspirin Use is Associated with Lower Prostate Cancer Risk in Male Carriers of BRCA Mutations

Previous studies have shown that male BRCA mutation carriers stand at increased risk of developing prostate cancer and have concerns about developing cancer. Genetic counseling practitioners often discuss strategies for reducing the risk of cancer for patients at high risk due to their genetic background. Addressing modifiable health habits is one such strategy. Unfortunately, modifiable risk factors for prostate cancer have only been documented in the general population and have not yet been studied in the BRCA carrier subpopulation. Therefore, this study aimed to identify modifiable risk factors for prostate cancer in BRCA carriers. We examined prostate cancer risk factors in 74 men who were part of families with a BRCA mutation. This study examined nine dichotomous variables including: exercise, history of vasectomy, smoking history, alcohol use, finasteride use, statin use, aspirin use, coffee use, and vitamin use. The survey was sent to all cases of prostate cancer in the Hereditary Cancer Center Database at Creighton University with a known BRCA status. This study confirmed the protective benefits of daily aspirin use, which have been observed in previous studies of the general population, and suggests its benefit in BRCA carriers. Protective benefits from regular vigorous exercise and daily coffee use trended towards significance, but neither factor withstood the Bonferroni Correction for multiple comparisons.     

Family Communication in Inherited Cardiovascular Conditions in Ireland

Over 100,000 individuals living in Ireland carry a mutated gene for an inherited cardiac condition (ICC), most of which demonstrate an autosomal dominant pattern of inheritance. First-degree relatives of individuals with these mutations are at a 50 % risk of being a carrier: disclosing genetic information to family members can be complex. This study explored how families living in Ireland communicate genetic information about ICCs and looked at the challenges of communicating information, factors that may affect communication and what influence this had on family relationships. Face to face interviews were conducted with nine participants using an approved topic guide and results analysed using thematic analysis. The participants disclosed that responsibility to future generations, gender, proximity and lack of contact all played a role in family communication. The media was cited as a source of information about genetic information and knowledge of genetic information tended to have a positive effect on families. Results from this study indicate that individuals are willing to inform family members, particularly when there are children and grandchildren at risk, and different strategies are utilised. Furthermore, understanding of genetics is partially regulated not only by their families, but by the way society handles information. Therefore, genetic health professionals should take into account the familial influence on individuals and their decision to attend genetic services, and also that of the media.     

Possible contributors to the gender differences in alcohol use and problems

Research on alcohol use and problems has demonstrated a much higher rate of alcohol use disorders (AUDs) among men compared with women. The authors review the most frequently researched biological and psychosocial factors that may play a role in the gender differences in alcohol use and problems. Among the biological factors, women might carry a lower genetic risk for AUDs and tend to suffer more negative biological consequences from drinking as compared with men. Regarding psychosocial factors, men appear to be more likely than women to manifest certain risk factors for alcohol use and problems (e.g., fewer perceived social sanctions for drinking, positive expectancies for alcohol use, personality traits such as impulsivity) and have fewer protective factors. Although these findings have helped to explain some of the gender differences in alcohol use and problems, there are inconsistencies in the literature. Additionally, many studie may not have enough statistical power to detect gender differences. The authors suggest that the biological and social consequences of alcohol abuse for women may be especially potent protective factors against AUDs and discuss the possibility of public health campaigns developed on the basis of this idea.     

Operationalizing the Reciprocal Engagement Model of Genetic Counseling Practice: a Framework for the Scalable Delivery of Genomic Counseling and Testing

With the advent of widespread genomic testing for diagnostic indications and disease risk assessment, there is increased need to optimize genetic counseling services to support the scalable delivery of precision medicine. Here, we describe how we operationalized the reciprocal engagement model of genetic counseling practice to develop a framework of counseling components and strategies for the delivery of genomic results. This framework was constructed based upon qualitative research with patients receiving genomic counseling following online receipt of potentially actionable complex disease and pharmacogenomics reports. Consultation with a transdisciplinary group of investigators, including practicing genetic counselors, was sought to ensure broad scope and applicability of these strategies for use with any large-scale genomic testing effort. We preserve the provision of pre-test education and informed consent as established in Mendelian/single-gene disease genetic counseling practice. Following receipt of genomic results, patients are afforded the opportunity to tailor the counseling agenda by selecting the specific test results they wish to discuss, specifying questions for discussion, and indicating their preference for counseling modality. The genetic counselor uses these patient preferences to set the genomic counseling session and to personalize result communication and risk reduction recommendations. Tailored visual aids and result summary reports divide areas of risk (genetic variant, family history, lifestyle) for each disease to facilitate discussion of multiple disease risks. Post-counseling, session summary reports are actively routed to both the patient and their physician team to encourage review and follow-up. Given the breadth of genomic information potentially resulting from genomic testing, this framework is put forth as a starting point to meet the need for scalable genetic counseling services in the delivery of precision medicine.     

Risk Perception Among Women at Risk for Hereditary Breast and Ovarian Cancer

This paper is a summation of selected history and literature on risk perception as it pertains to genetic counseling and testing, with a focus on hereditary breast and ovarian cancer, the area which has seen the greatest focus of research. Risk perception is a complex and incompletely understood concept which seeks to capture the myriad meanings that an individual attaches to the experience of being at increased risk. It is now evident that “risk”, as perceived by the patient, is different from the objective, quantifiable risk estimate often provided to them during genetic counseling. What is also clear is that the complicated set of factors influencing risk perception are not yet well understood, nor are the mechanisms the lead from perceived risk to behavioral change in the patient. In situations where specific behavioral changes such as increased cancer screening are an inherent goal of the genetic risk assessment and counseling process, gaining a better understanding of the specific factors motivating change will be essential.     

Factors Influencing Uptake of Genetic Testing For Colorectal Cancer Risk in an Australian Jewish Population

There is a significant excess of colorectal cancer in the Australian Ashkenazi Jewish community. This excess can partially be attributed to inherited factors that are over represented in this population, such as the APC variant I1307K, which is associated with a modest increase in colorectal cancer risk. There is currently only sporadic clinical genetic testing offered for this variant, as neither the exact increase in cancer risk and therefore the appropriate screening strategies for I1307K carriers, nor the acceptability of such testing in Jewish communities have been determined. This study reports a high acceptability of such genetic testing within a community sample of 300 Australian Jewish individuals—94% of participants would have a test for predisposition to colorectal cancer and a majority would make this decision based on the desire for information for their families and to decrease their own cancer risk. Some concerns were noted about genetic testing for cancer predisposition, including insurance discrimination, test accuracy and confidentiality.     

Context-Dependent Pathways of the Transmission of Risk from Communities to Individuals

Research has consistently documented the role of environmental risk factors in the onset of delinquent behavior among youth. Less is known about the processes through which these contextual risks are translated to individual youth behavior. The aim of the current study is to examine the role of family risk factors in the transmission of community risk. Data was obtained from a nationally representative sample of over 30,000 middle school youth and community key informants (CKI). A multilevel, moderated mediation model was estimated with family risk as the moderator of the effect of CKI ratings of community risk on youth perceptions of risk. Results showed that when youth came from low risk families (measured by parental use of positive family management strategies), youth perceptions of risk mediated the effects of community risk on youth delinquency; however, there was no evidence of a significant mediated effect under conditions of high risk (measured by poor family management). This appears to be because youth from high-risk families perceived their neighborhoods as high-risk, regardless of actual levels of risk (as reported by CKI). This study finds that the relationship between communities and adolescent behavior is complex and interacts with the family environment.     

How Risk is Perceived, Constructed and Interpreted by Clients in Clinical Genetics, and the Effects on Decision Making: Systematic Review

As an individual’s understanding of their genetic risk may influence risk management decisions, it is important to understand the ways in which risk is constructed and interpreted. We systematically reviewed the literature, undertaking a narrative synthesis of 59 studies presenting data on the ways in which individuals perceive, construct and interpret their risk, and the subsequent effects. While most studies assessed perceived risk quantitatively, the combined evidence suggests individuals find risk difficult to accurately quantify, with a tendency to overestimate. Rather than being a stand-alone concept, risk is something lived and experienced and the process of constructing risk is complex and influenced by many factors. While evidence of the effects of perceived risk is limited and inconsistent, there is some evidence to suggest high risk estimations may adversely affect health and lead to inappropriate uptake of medical surveillance and preventative measures by some individuals. A more focused approach to research is needed with greater exploration of the ways in which risk is constructed, along with the development of stronger theoretical models, to facilitate effective and patient-centered counseling strategies.     

How can We Reduce the Distress Associated with Health Screening? From Psychological Theory to Clinical Practice

Health screening involves the early identification of risk factors for disease or early‐stage disease. There is clear evidence of a health benefit following many screening programs. However, these programs may also contribute to significant psychological distress in a significant minority of vulnerable individuals. This paper considers the impact of screening in relation to breast cancer, focusing on assessment of genetic risk for breast cancer and mammography. It then reviews how these programs presently try to minimize any distress among participants before examining how health and clinical psychological theory can contribute to the development of new interventions, focusing on the use of cognitive challenge and teaching appropriate emotion‐focused coping strategies such as mindfulness and distraction. Future research developments are then addressed.     

Coping with Genetic Risk: Living with Huntington Disease (HD)

Rapid developments in genetics suggest that more and more people will be identified ‘at risk’ for common illnesses. Genetic discoveries have the potential to improve disease outcomes, but they also highlight gaps in our knowledge about patient-level factors such as how individuals respond to a genetic threat to their health and how they cope with that threat. There have been few empirical applications of psychological theories to understand genetic testing decisions and outcomes, although there have been calls for this approach. Drawing upon interviews with individuals at risk for (or with) Huntington disease (HD), this study adopts a stress and coping framework to explore how people cope with genetic illness in the family. Qualitative data analyses revealed that coping strategies were dynamic and varied but could be classified as 1) primary control coping, 2) secondary control coping and 3) social comparison strategies. Important distinctions were observed in coping strategies among those who had undergone genetic testing and received a test result, those who remained at risk, and those affected with HD, along with their caregivers. Implications for clinical practice and genetics health services are discussed.     

The use of genetic test information in insurance: The argument from indistinguishability reconsidered

In the bioethical literature, discrimination in insurance on the basis of genetic risk factors detected by genetic testing has been defended and opposed on various ethical grounds. One important argument in favour of the practice is offered by those who believe that it is not possible to distinguish between genetic and non-genetic information, at least not for practical policy purposes such as insurance decision-making. According to the argument from indistinguishability, the use of genetic test information for insurance purposes should be permitted, because genetic test information is no different from non-genetic medical information in any relevant respect, therefore it would be inconsistent to prohibit the former whilst permitting the latter. This paper discusses and defends this argument and suggests a new, more tenable foundation.     

Advances in a cognitive behavioural model of body dysmorphic disorder

Body dysmorphic disorder (BDD) is the most distressing and handicapping of all the body image disorders. A cognitive behavioural model of BDD is discussed which incorporates evidence from recent studies and advances in the author’s 1996 conceptual model. The model aims to understand the maintenance of symptoms in BDD, to assist in the process of engagement of therapy and to guide the strategies to use. At the core of BDD is an excessive self-focussed attention on a distorted body image, the negative appraisal of such images leading to rumination, changes in mood and the use of safety behaviours. Evidence for possible risk factors in the development of BDD is also discussed.     

Raised by Depressed Parents: Is it an Environmental Risk?

The mechanisms explaining how parental depression compromises healthy child development are complex and multifaceted, with genetic and environmental pathways intertwined. Reexamination of whether and how maternal and paternal depression serve as environmental risk factors is important because such an investigation can be helpful to identify modifiable mechanisms that are accessible to interventions. We review studies that have employed designs that isolate the effects of the environment from genetic influences, including adoption studies and children of twins studies. Findings indicate that maternal depression is an environmental risk factor for the emotional, behavioral, and neurobiological development of children. Although more studies are needed, preliminary findings suggest that paternal depression appears to be a weaker environmental risk as compared to maternal depression, at least during infancy and toddlerhood. Implications for theory and future research are discussed.     

An Examination of Violence Risk Communication in Practice Using a Structured Professional Judgment Framework

The increased use of violence risk assessment tools in professional practice has sparked the development of best-practice guidelines for communicating about violence risk. The present study examined 166 pre-sentence reports, authored by clinicians and probation officers, to determine the extent to which they are consistent with those guidelines. We examined the frequency with which reports contained information about five topics: the presence of risk factors; the relevance of risk factors; scenarios of future violence; recommended management strategies; and summary risk judgments. Analyses revealed that the topics addressed most frequently in reports were the presence of risk factors and recommended management strategies, but none of the five topics was addressed consistently, completely, or clearly in reports. This was especially the case for probation reports. The findings highlight the need to improve practice through better implementation of guidelines for risk communication. Also needed is research on the extent to which information in risk communications is comprehended, accepted, and used by various stakeholder groups. Copyright © 2015 John Wiley & Sons, Ltd.