Object recognition with severe spatial deficits in Williams syndrome: sparing and breakdown

Williams syndrome (WS) is a rare genetic disorder that results in severe visual-spatial cognitive deficits coupled with relative sparing in language, face recognition, and certain aspects of motion processing. Here, we look for evidence for sparing or impairment in another cognitive system-object recognition. Children with WS, normal mental-age (MA) and chronological age-matched (CA) children, and normal adults viewed pictures of a large range of objects briefly presented under various conditions of degradation, including canonical and unusual orientations, and clear or blurred contours. Objects were shown as either full-color views (Experiment 1) or line drawings (Experiment 2). Across both experiments, WS and MA children performed similarly in all conditions while CA children performed better than both WS group and MA groups with unusual views. This advantage, however, was eliminated when images were also blurred. The error types and relative difficulty of different objects were similar across all participant groups. The results indicate selective sparing of basic mechanisms of object recognition in WS, together with developmental delay or arrest in recognition of objects from unusual viewpoints. These findings are consistent with the growing literature on brain abnormalities in WS which points to selective impairment in the parietal areas of the brain. As a whole, the results lend further support to the growing literature on the functional separability of object recognition mechanisms from other spatial functions, and raise intriguing questions about the link between genetic deficits and cognition.     

Personality traits in women with Turner syndrome

Turner syndrome is caused by the total or partial absence of, or structural abnormalities in, one sex chromosome. A personality style characterized by traits related to low neuroticism and high extroversion has been reported for females with Turner syndrome, indicating possible genetic factors related to personality development. This study examines personality traits in 37 Swedish women with Turner syndrome using the Karolinska Scales of Personality Inventory. Compared to reference data, the subjects rated themselves as more sensation seeking, less detached, less verbally aggressive and less irritated. These results partially support previous findings. The subjects were divided into three karyotype groups: 45,X (n = 13), 45,X/46,XX or 45,X/45,XY (n = 13), and structural abnormalities (n = 11). Contrary to some previous findings, no differences in personality were found between the karyotype groups.     

The Diving Bell Meets the Butterfly: Identity Lost andRe-Membered

Jean Dominique Bauby, former editor of Elle, suffereda stroke to his brain stem that left him with locked-in syndrome. Subsequently, through blinking his left eye, he writes his memoirof this experience, The Diving Bell and the Butterfly. Thispaper explores the meaning of embodiment, especially as one'sbody bears upon one's personal identity. It explores the variouschallenges and threats to selfhood that result from Bauby'sexperience and recounts how Bauby rises to the challenge throughhis memory and imagination.     

Does DSM-IV Asperger's Disorder Exist?

DSM-IV criteria for autistic and Asperger's disorders were applied to 157 children with clinical diagnoses of autism or Asperger's disorder. All children met the DSM-IV criteria for autistic disorder and none met criteria for Asperger's disorder, including those with normal intelligence and absence of early speech delay. The reason for this was that all children had social impairment and restricted and repetitive behavior and interests (required DSM-IV symptoms for both autistic and Asperger's disorders) and all had a DSM-IV communication impairment (which then qualified them for a diagnosis of autistic disorder and not Asperger's disorder). Communication problems exhibited by all children were impaired conversational speech or repetitive, stereotyped, or idiosyncratic speech (or both), which are DSM-IV criteria for autism. These findings are consistent with those of 5 other studies and indicate that a DSM-IV diagnosis of Asperger's disorder is unlikely or impossible.     

Parents' Experiences with Genetic Counseling After the Birth of a Baby with a Genetic Disorder: An Exploratory Study

Little is known about factors determining which families utilize genetic counseling services. We conducted semistructured interviews with parents of four children born with cystic fibrosis (CF) and ten with Down's syndrome (DS) to ascertain reasons for using, or not using, genetic counseling services in the state of Victoria, Australia. We also explored the usefulness of genetic counseling for the families who had experienced it, and the perceived role of genetic counseling. All mothers of children with CF see a genetic counselor as part of a structured education program following diagnosis through newborn screening. Information overload was identified by them as an important problem. There is no specific program for families of children with DS. Six of them had received genetic counseling and four had not, either because it was not specifically offered to them or because they did not pursue it in the context of misconceptions about its purpose. The timing of the offer of genetic counseling is important and needs to take into account parents' coping strategies after diagnosis. Several parents commented on the favorable aspects of counseling, including getting information they needed to deal with the diagnosis and relief of guilt. Better awareness of genetic counseling by referring physicians, and providing counseling at more than one visit, may contribute to a more effective service.     

ANALYZING THE INFLUENCE OF TIC‐RELATED TALK ON VOCAL AND MOTOR TICS IN CHILDREN WITH TOURETTE'S SYNDROME

This study examined the effect of tic‐related talk on the vocal and motor tics of 2 boys with Tourette's syndrome. Using ABAB withdrawal designs, the boys were alternately exposed to conditions with and without talk of their tics. For both boys, vocal tics markedly increased when talk pertained to tics and decreased when talk did not pertain to tics, but motor tic covariance was less consistent.     

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.