Social cognition and real-life functioning in patient samples with 22q11.2 deletion syndrome with or without psychosis,compared to a large sample of patients with schizophrenia only and healthy controls

Patients with the 22q11.2 deletion syndrome (DS) show an increased risk of developing a psychotic illness lifetime. 22q11.2DS may represent a reliable model for studying the neurobiological underpinnings of schizophrenia. The study of social inference abilities in a genetic condition at high risk for psychosis, like 22q11.2DS, may shed light on the relationships between neurocognitive processes and patients' daily general functioning. The study sample consisted of 1736 participants, divided into four groups: 22q11.2DS patients with diagnosis of psychotic disorder (DEL SCZ, N = 20); 22q11.2DS subjects with no diagnosis of psychosis (DEL, N = 43); patients diagnosed with schizophrenia without 22q11.2DS (SCZ, N = 893); and healthy controls (HC, N = 780). Social cognition was assessed through The Awareness of Social Inference Test (TASIT) and general functioning through the Specific Levels of Functioning (SLoF) scale. We analysed data through regression analysis. The SCZ and DEL groups had similar levels of global functioning; they both had significantly lower SLoF Total scores than HC (p < .001); the DEL SCZ group showed significantly lower scores compared to the other groups (SCZ, p = .004; DEL, p = .003; HC, p < .001). A significant deficit in social cognition was observed in the three clinical groups. In the DEL SCZ and SCZ groups, TASIT scores significantly predicted global functioning (p < .05). Our findings of social cognition deficit in psychosis-prone patients point to the possible future adoption of rehabilitation programmes, like Social Skills Training and Cognitive Remediation, during premorbid stages of psychosis.     

Behavioral and pharmacological treatments for tourette syndrome: A review

This article reviews the published treatment outcome research on pharmacological and behavioral treatments for Gilles de la Tourette syndrome (TS). Controlled group outcome studies of pharmacological treatments show about a 50–60% reduction in tics with haloperidol and pimozide and about a 20% reduction with clonidine. A controlled group outcome study and several within-subject design studies of behavioral treatments show about a 90% reduction in tics with habit reversal training. A large number of case studies generally confirm these results and also show benefits from other behavioral treatments such as relaxation training, self-monitoring, and contingency management. Clinical limitations of TS drugs are that they produce side effects in 50–85% of the patients and require continuous use, and long-term compliance with the medications is limited. The primary limitation of behavioral treatments is that they require a large initial time commitment. The methodological strengths of the controlled drug studies are the use of double-blind and group designs. For the behavioral studies, the strengths are rigorous recording and controlled within-subject designs.     

Psychological maladjustment mediates the link between remembrances of parental rejection in childhood and loneliness in adulthood: A cross-cultural comparative study

Drawing stimulus from interpersonal acceptance-rejection theory, this multicultural study examined relations between men's versus women's remembrances of maternal and paternal acceptance-rejection in childhood and their current level of loneliness, as mediated by adults' self-reported psychological maladjustment. Adults (N = 899) from five nations (Iraq, Italy, the Netherlands, Pakistan, and the United States) responded to the Adult version of the Parental Acceptance-Rejection Questionnaire-short form for mothers and fathers, the Adult version of the Personality Assessment Questionnaire-short form, and the Interpersonal Acceptance-Rejection Loneliness Scale. Adults' remembrances of maternal and paternal rejection in childhood significantly and independently predicted feelings of loneliness but remembered paternal rejection was more strongly related to these feelings than were remembrances of maternal rejection. Psychological maladjustment fully mediated the effect of remembered maternal rejection but only partially mediated the effect of remembered paternal rejection on loneliness. There were no significant differences in these results across the five countries or genders. Overall, the results suggest that adults' remembrances of parental rejection in childhood—along with the theoretically expected development of psychological maladjustment—are likely to be associated panculturally with the experience of loneliness in adulthood.     

夜间进食综合征的研究进展

夜间进食综合征是一种表现为早晨没有食欲、晚饭后过量进食或夜间醒来进食的饮食障碍,并且与睡眠问题相关。在国内外文献进行分析研究的基础上,本文先后介绍了夜食症的概念内涵、发病的生理神经机制及主要的干预措施和治疗手段,并对现有研究的不足进行总结,提出了未来研究的方向,旨在为研究者在此领域的进一步探索提供参考。     

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.