Presymptomatic testing for spinocerebellar ataxia type 2 (SCA2) in Cuba started five years ago. We have now investigated the
psychological impact of test results on 150 individuals at 50% risk for SCA2. In a prospective study, psychological instruments
were used to evaluate depression, anxiety and family functioning (1) before testing and (2) one year after disclosure of the
test result. One year after, anxiety and depression levels decreased both in carriers and non-carriers, but anxiety decreased
significantly more in carriers. Pathological levels of anxiety were seen mostly in members of dysfunctional families, but
decreased more in them than in other consultands. Presymptomatic testing thus seems to have been especially beneficial for
these testees, possibly due to a greater gain from the psychosocial support received. It would be pertinent to evaluate now
the impact of other psychosocial variables and perform longer-term longitudinal studies. 相似文献
We explored how individuals at-risk for HD who have or have not been tested make reproductive decisions and what factors are
involved. We interviewed 21 individuals (8 with and 4 without the mutation, and 9 un-tested) in-depth for 2 hours each. At-risk
individuals faced a difficult series of dilemmas of whether to: get pregnant and deliver, have fetal testing, have pre-implantation
genetic diagnosis, adopt, or have no children. These individuals weighed competing desires and concerns: their own desires
vs. those of spouses vs. broader moral concerns (e.g., to end the disease; and/or follow dictates against abortion) vs. perceptions
of the interests of current or future offspring. Quandaries arose of how much and to whom to feel responsible. Some changed
their perspectives over time (e.g., first “gambling,” then being more cautious). These data have critical implications for
genetic counselors and other health care workers and future research, particularly as more genetic tests become available. 相似文献
Multiple theories of Attention-Deficit/Hyper- activity Disorder (ADHD) have been proposed, but one that has stood the test
of time is the dopamine deficit theory. We review the narrow literature from recent brain imaging and molecular genetic studies
that has improved our understanding of the role of dopamine in manifestation of symptoms of ADHD, performance deficits on
neuropsychological tasks, and response to stimulant medication that constitutes the most common treatment of this disorder.
First, we consider evidence of the presence of dopamine deficits based on the recent literature that (1) confirms abnormalities in dopamine-modulated frontal-striatal circuits, reflected
by size (smaller-than-average components) and function (hypoactivation); (2) clarifies the agonist effects of stimulant medication
on dopaminergic mechanisms at the synaptic and circuit level of analysis; and (3) challenges the most-widely accepted ADHD-related
neural abnormality in the dopamine system (higher-than-normal dopamine transporter [DAT] density). Second, we discuss possible
genetic etiologies of dopamine deficits based on recent molecular genetic literature, including (1) multiple replications that confirm the association of ADHD with
candidate genes related to the dopamine receptor D4 (DRD4) and the DAT; (2) replication of differences in performance of neuropsychological
tasks as a function of the DRD4 genotype; and (3) multiple genome-wide linkage scans that demonstrate the limitations of this
method when applied to complex disorders but implicate additional genes that may contribute to the genetic basis of ADHD.
Third, we review possible environmental etiologies of dopamine deficits based on recent studies of (1) toxic substances that may affect the dopamine system in early development and contribute substantially
to the etiology of ADHD; (2) fetal adaptations in dopamine systems in response to stress that may alter early development
with lasting effects, as proposed by the developmental origins of health and disease hypothesis; and (3) gene-environment
interactions that may moderate selective damage or adaptation of dopamine neurons. Based on these reviews, we identify critical
issues about etiologic subtypes of ADHD that may involve dopamine, discuss methods that could be used to address these issues,
and review old and new theories that may direct research in this area in the future. 相似文献
Outcome measurement in clinical genetics is challenging. Outcome attributes used currently have been developed by service
providers or adapted from measures used in other areas of healthcare. Many of the ‘patients’ in clinical genetics are healthy
but at risk of developing or transmitting a condition. Usually no pharmacological or surgical treatment is offered, although
information-giving is an objective of most consultations. We argue that services should be evaluated on the basis of how well
they alleviate the effects of disease, from a patient perspective. This paper describes a qualitative study using seven focus
groups with health professionals, patients and patient representatives. Social and emotional effects of genetics diseases
were identified. Some differences emerged between the effects identified by health professionals and those identified by patients.
These findings will be used to inform the evaluation of existing outcome measures and develop robust measures of outcome for
clinical genetics services. 相似文献
Objective: Guided by the theory of planned behaviour (TPB) and health literacy concepts, SIPsmartER is a six-month multicomponent intervention effective at improving SSB behaviours. Using SIPsmartER data, this study explores prediction of SSB behavioural intention (BI) and behaviour from TPB constructs using: (1) cross-sectional and prospective models and (2) 11 single-item assessments from interactive voice response (IVR) technology.
Design: Quasi-experimental design, including pre- and post-outcome data and repeated-measures process data of 155 intervention participants.
Main Outcome Measures: Validated multi-item TPB measures, single-item TPB measures, and self-reported SSB behaviours. Hypothesised relationships were investigated using correlation and multiple regression models.
Results: TPB constructs explained 32% of the variance cross sectionally and 20% prospectively in BI; and explained 13–20% of variance cross sectionally and 6% prospectively. Single-item scale models were significant, yet explained less variance. All IVR models predicting BI (average 21%, range 6–38%) and behaviour (average 30%, range 6–55%) were significant.
Conclusion: Findings are interpreted in the context of other cross-sectional, prospective and experimental TPB health and dietary studies. Findings advance experimental application of the TPB, including understanding constructs at outcome and process time points and applying theory in all intervention development, implementation and evaluation phases. 相似文献
The relationship between obesity and suicide risk is still unclear with controversial research results. The aim of this study is to investigate the relationship between obesity and suicide risk for men and women in a population-based study of young adults. This is a cross-sectional population-based study that identified young adults between 18 and 35 years of age. Suicide risk was investigated through the structured clinical interview Mini. Weight and height were assessed, and participants were classified as normal-weight body mass index (BMI < 30) or obese (BMI > 30). The prevalence of obesity was of 19.9% of the total sample (n = 1953). Obesity was more prevalent among women and participants between 27 and 35 years of age. Suicide risk was present in 13.0% of the sample and more prevalent among women. In our study we found an association between obesity and suicide risk for women, but not for men. Obesity was associated with a higher prevalence of suicide risk in women. Given the strength of the relationship between BMI and suicide, identifying the mechanisms associated with obesity, especially for women, can lead to new insights into the prevention of suicide risk 相似文献
State and trait anxiety define different aspects of anxiety, and may represent environmentally and genetically mediated components of this phenotype. Furthermore their relationship, where trait anxiety is expressed through levels of state anxiety under threatening circumstances, may represent a process of interplay between a genetic vulnerability factor and an environmental stressor. To test these hypotheses, we explored genetic and environmental influences on measures of state and trait anxiety in a sample of 1058 twins (521 males and 537 females) aged 8–16. The results were consistent with these hypotheses. State anxiety is largely influenced by environmental factors in males and females whereas trait anxiety shows moderate genetic effects and substantial non-shared environment effects. Their association was accounted for by non-shared environmental effects, with modest genetic and shared environmental inputs. The implications of these results for vulnerability mechanisms involving stress reactivity on anxiety are discussed. 相似文献