What I Wish I Knew Then...Reflections from Personal Experiences in Counseling about Down Syndrome

Sharing the news about a newborn baby’s diagnosis of Down syndrome with families is a scenario genetic counselors frequently face. Yet often we may feel uncomfortable or unsure how to best support families in this setting in a way that will foster competence and resilience. This commentary is a reflection of one genetic counselor’s experiences in counseling about Down syndrome over the course of her career and how her thinking has transitioned from a medical based model of disability to a more individual and family-focused model. Ideas and suggestions are offered that genetic counselors can incorporate into their practice.     

Motives for Fostering Children with Alcohol-Related Disabilities

A sample of 63 licensed foster parents was asked, “What motivates you to foster a child who has a fetal alcohol spectrum disorder?” The responses to this question were grouped together by licensed foster parents. The grouped data were subjected to multidimensional scaling and cluster analysis. Results indicated that foster parents were motivated to care for children with alcohol-related disabilities by witnessing positive changes in the children in their care, helping children focus on their strengths, using their own parenting experience, earning an income, assisting children who have disabilities, and helping children stay connected to their families and communities. Foster parents who foster children with alcohol-related disabilities foster for similar reasons to those who foster children with special needs in general. Differences between the literature on foster parent motives and study results were described. Foster parents who are caring for children with alcohol-related disabilities see their care as specialized, see their roles as long-term helpers facilitators to children, their birth families and home communities, and emphasize positive experiences of fostering.     

A controlled evaluation of group cognitive therapy in the treatment of irritable bowel syndrome

We randomized, at two sites, 210 patients with Rome II diagnosed irritable bowel syndrome (IBS), of at least moderate severity, to one of three conditions: group-based cognitive therapy (CT; n=120), psychoeducational support groups (n=46) as an active control, or intensive symptom and daily stress monitoring (n=44). One hundred eighty-eight participants completed the initial treatment. Those in symptom monitoring were then crossed over to CT. For an intent to treat analysis on a composite GI symptom measure derived from daily symptom diaries, both CT and the psychoeducational support groups were significantly more improved than those in the intensive symptom monitoring condition, but the CT and psychoeducational support group did not differ. Among treatment completers on the same composite measure of GI symptoms, again, both CT and psychoeducational support groups were statistically superior to symptom monitoring but did not differ on the symptom composite, or on any other measure. On individual IBS symptoms, both CT and psychoeducational support were statistically superior to symptom monitoring on reductions in abdominal pain and tenderness and for flatulence. Patient global ratings at the end of treatment showed the two active conditions statistically superior to symptom monitoring on change in Bowel Regularity, with CT superior to symptom monitoring on reduction in overall pain and in improvement in sense of well-being. Three-month follow-up data on 175 patients revealed maintenance of significant improvement or continued significant improvement on all IBS symptoms, including the McGill Pain Questionnaire. Group CT and psychoeducational support groups continued not to differ on any measure. We thus conclude that group CT is not superior to an attention placebo control condition.     

Loneliness, social relationships, and a broader autism phenotype in college students

Impaired social functioning is a hallmark of autism spectrum conditions. The purpose of this study was to investigate possible relationship between social functioning and a broader autism phenotype. With a sample of non-clinical undergraduate students from a large, urban university (N = 97; mean age = 19.4 ± 2 years), characteristics associated with autism were measured as well as self-reported dating and friendship history, feelings of loneliness, and social motivation. Results indicate that those individuals with a stronger autism phenotype (e.g., rigidity, preference for sameness, high attention to detail) report significantly more loneliness (r = .52, p < 0.01) and fewer and shorter duration friendships. Also, for participants in romantic relationships, a stronger phenotype was moderately and positively correlated with length of relationship (r = .34, p < 0.05). Findings support the view that individuals with characteristics of autism and related conditions do not necessarily prefer aloneness, as once assumed, but rather experience increased levels of loneliness related to lack of social skill and understanding. Significance and limitations of these findings are discussed and future directions for research and possibilities for social skills training in this population are explored.     

Mathematical skill in individuals with Williams syndrome: evidence from a standardized mathematics battery

Williams syndrome (WS) is a developmental disorder associated with relatively spared verbal skills and severe visuospatial deficits. It has also been reported that individuals with WS are impaired at mathematics. We examined mathematical skills in persons with WS using the second edition of the Test of Early Mathematical Ability (TEMA-2), which measures a wide range of skills. We administered the TEMA-2 to 14 individuals with WS and 14 children matched individually for mental-age on the matrices subtest of the Kaufman Brief Intelligence Test. There were no differences between groups on the overall scores on the TEMA-2. However, an item-by-item analysis revealed group differences. Participants with WS performed more poorly than controls when reporting which of two numbers was closest to a target number, a task thought to utilize a mental number line subserved by the parietal lobe, consistent with previous evidence showing parietal abnormalities in people with WS. In contrast, people with WS performed better than the control group at reading numbers, suggesting that verbal math skills may be comparatively strong in WS. These findings add to evidence that components of mathematical knowledge may be differentially damaged in developmental disorders.     

Ocular motor indicators of executive dysfunction in fragile X and Turner syndromes

Fragile X and Turner syndromes are two X-chromosome-related disorders associated with executive function and visual spatial deficits. In the present study, we used ocular motor paradigms to examine evidence that disruption to different neurological pathways underlies these deficits. We tested 17 females with fragile X, 19 females with Turner syndrome, and 40 females with neither disorder who comprised the comparison group. Group differences emerged for both the fragile X and Turner syndrome groups, each relative to the comparison group: Females with fragile X had deficits in generating memory-guided saccades, predictive saccades, and saccades made in the overlap condition of a gap/overlap task. Females with Turner syndrome showed deficits in generating memory-guided saccades, but not during either the predictive saccade or gap/overlap task. Females with Turner syndrome, but not females with fragile X, showed deficits in visually guided saccades and anti-saccades. These findings indicate that different brain regions are affected in the two disorders, and suggest that different pathways lead to the similar cognitive phenotypes described for fragile X and Turner syndromes.     

Neural correlates of visuospatial consciousness in 3D default space: Insights from contralateral neglect syndrome

One of the most compelling questions still unanswered in neuroscience is how consciousness arises. In this article, we examine visual processing, the parietal lobe, and contralateral neglect syndrome as a window into consciousness and how the brain functions as the mind and we introduce a mechanism for the processing of visual information and its role in consciousness. We propose that consciousness arises from integration of information from throughout the body and brain by the thalamus and that the thalamus reimages visual and other sensory information from throughout the cortex in a default three-dimensional space in the mind. We further suggest that the thalamus generates a dynamic default three-dimensional space by integrating processed information from corticothalamic feedback loops, creating an infrastructure that may form the basis of our consciousness. Further experimental evidence is needed to examine and support this hypothesis, the role of the thalamus, and to further elucidate the mechanism of consciousness.     

Ambivalent sexism,attitudes towards menstruation and menstrual cycle‐related symptoms

The objective of the present study was to investigate the relationship between ambivalent sexism and beliefs and attitudes towards menstruation, and, in turn, to study the influence of these variables on menstrual cycle‐related symptoms. One hundred and six Mexican women completed the Ambivalent Sexism Inventory, the Beliefs about and Attitudes toward Menstruation Questionnaire and the Menstrual Distress Questionnaire. The higher scores on benevolent sexism were associated with the most positive attitudes towards menstruation and also with the belief that a menstruating woman should or should not do some activities and that menstruation keeps women from their daily activities. The higher scores on hostile sexism were associated with rejection of menstruation as well as with feelings of embarrassment about it. Beliefs about and attitudes towards menstruation predicted menstrual cycle‐related symptoms related to negative affect, impaired concentration and behavioural changes, but did not predict somatic symptoms. These results will be useful to health professionals and advocates who want to change the negative expectations and stereotypes of premenstrual and menstrual women and reduce the sexism and negative attitudes towards women that are evident in Mexican culture.     

艾滋病科研设计的伦理思考

艾滋病严重地影响着人类的健康及生活质量,艾滋病相关因素的研究迫在眉睫,其科研中包含着一系列的伦理问题,如艾滋病患者的依从性问题,艾滋病患者进行试验研究的双盲、随机、对照等原则问题及艾滋病患者科研相关质量问题.要深刻地理解和认识这些伦理问题,在艾滋病科研设计中注意理解和尊重受试者,制定出有效而合乎伦理的科研政策,加强交流,从而得到艾滋病患者和家属以及社会的认同,以有利于在不同范围内进行科研合作.