Autism and 15q11-q13 disorders: behavioral, genetic, and pathophysiological issues

New insights into biological factors that underlie autism may be gained by comparing autism to other neurodevelopmental disorders that have autistic features and relatively well-delineated genetic etiologies or neurobiological findings. This review moves beyond global diagnoses of autism and instead uses an endophenotypic approach to compare specific clusters of autistic symptomatology to features of chromosome 15q11-q13 disorders. Paternally or maternally derived deficiencies of 15q11-q13 result in Prader-Willi or Angelman syndromes, and we first use a global approach to review potential autism susceptibility genes in the 15q11-q13 region. We then use a more trait-based approach to suggest possible ties between specific phenotypic characteristics of autism and Prader-Willi syndrome, namely savant-like skills. We conclude with insights from pathophysiological studies that implicate altered development of specific neuron types and circuits in the cerebral cortex as part of the pathophysiological processes associated with autism and mental retardation.     

Rhesus monkeys (<Emphasis Type="Italic">Macaca mulatta</Emphasis>) discriminate between knowing and not knowing and collect information as needed before acting

Humans use memory awareness to determine whether relevant knowledge is available before acting, as when we determine whether we know a phone number before dialing. Such metacognition, or thinking about thinking, can improve selection of appropriate behavior. We investigated whether rhesus monkeys (Macaca mulatta) are capable of a simple form of metacognitive access to the contents of short-term memory. Monkeys chose among four opaque tubes, one of which concealed food. The tube containing the reward varied randomly from trial to trial. On half the trials the monkeys observed the experimenter baiting the tube, whereas on the remaining trials their view of the baiting was blocked. On each trial, monkeys were allowed a single chance to select the tube containing the reward. During the choice period the monkeys had the opportunity to look down the length of each tube, to determine if it contained food. When they knew the location of the reward, most monkeys chose without looking. In contrast, when ignorant, monkeys often made the effort required to look, thereby learning the location of the reward before choosing. Looking improved accuracy on trials on which monkeys had not observed the baiting. The difference in looking behavior between trials on which the monkeys knew, and trials on which they were ignorant, suggests that rhesus monkeys discriminate between knowing and not knowing. This result extends similar observations made of children and apes to a species of Old World monkey, suggesting that the underlying cognitive capacities may be widely distributed among primates.     

Exploring triangulation in infancy: two contrasted cases

Two contrasted father-mother-infant interactions are observed longitudinally during trilogue play. They illustrate the contribution of recent research to the exploration of triangulation in infancy: namely, the infant's capacity to handle triangular interactions and share her affects with her two parents, and the way that this capacity is recruited in functional versus problematic alliances. It is likely that an infant under stress when interacting with one parent will protest at that parent and also at the other. Such is the case when, for example, the father acts intrusively while playing with his baby. The infant is then driven to avert and turns to the mother. The regulation of this dyadic intrusion-avoidance pattern at family level depends on the family alliance. When coparenting is supportive, the mother validates the infant's bid for help without interfering with the father. Thus, the problematic pattern is contained in the dyad, and the infant's triangular capacities remain in the service of her own developmental goals. But when coparenting is hostile-competitive, the mother ignores the infant's bid or engages with her in a way that interferes with her play with her father. In this case, the infant's triangular capacities are used to relieve the tension between the parents. The importance of tracing family process back to infancy for family therapy is discussed.     

A validity study of the Positive Psychology Protective Profile

The purpose of this study was to conduct an exploratory factor analysis to provide support for the construct validity of the Positive Psychology Protective Profile, a self-report measure based on positive psychology. 985 undergraduates completed the profile, the Beck Depression Inventory, and the College Life Stress Inventory. Scores on the first two factor scores (Positive Outlook, Negative Symptoms) for the profile correlated significantly with scores on depression and stress, whereas scores on the third profile factor (Problem-solving) correlated significantly only with scores on the Beck Depression Inventory. Scores on the Positive Outlook significantly differentiated participants having either chronic illness or recent major illness from those who did not.     

The Misunderstood Gender: A Model of Modern Femme Identity

Femme identity remains a highly controversial topic. It has been maligned in both heterosexual and queer contexts, and is rarely represented in empirical literature. In this study we examined how femme women experience their own gender identity. Interviews were conducted with femme-identified lesbians; the focus was upon 4 content areas: identity development, experiences in the lesbian community, heterosexual society, and romantic relationships. The interviews were analyzed using Grounded Theory (B. J. Glaser & A. Strauss, 1967), an empirical method of generating models of subjective phenomena. The core category in this model Maintaining integrity: Upholding beliefs about sexual desire and gender representation reflects the need to uphold their sense of integrity across a variety of contexts by confronting stereotypes about both women and lesbians.     

Germs and angels: the role of testimony in young children's ontology

In three experiments, children's reliance on other people's testimony as compared to their own, first-hand experience was assessed in the domain of ontology. Children ranging from 4 to 8 years were asked to judge whether five different types of entity exist: real entities (e.g. cats, trees) whose existence is evident to everyone; scientific entities (e.g. germs, oxygen) that are normally invisible but whose existence is generally presupposed in everyday discourse; endorsed beings (e.g. the Tooth Fairy, Santa Claus) whose existence is typically endorsed in discourse with young children; equivocal beings (e.g. monsters, witches) whose existence is not typically endorsed in discourse with young children; and impossible entities (e.g. flying pigs, barking cats) that nobody believes in. Children make a broad dichotomy between entities and beings that they claim to exist (real entities; scientific entities; and endorsed beings) and those whose existence they deny (equivocal beings and impossible entities). They also make a more fine-grained distinction among the invisible entities that they claim to exist. Thus, they assert the existence of scientific entities such as germs with more confidence than that of endorsed beings such as Santa Claus. The findings confirm that children's ontological claims extend beyond their first-hand encounters with instances of a given category. Children readily believe in entities that they cannot see for themselves but have been told about. Their confidence in the existence of those entities appears to vary with the pattern of testimony that they receive.     

Neuropsychological correlates of Greek alcoholic patients who report memory disturbances

We studied 40 male and 37 female (M age=63 yr.) Greek alcoholic patients and an equal number of control subjects. Both groups were evaluated with the Mini-Mental State Examination, the Syndrome Short Test, the Verbal Fluency Test (Category & Letter), the Clock Test, and the Digit Span (Forward and Backward from the Wechsler Adult Intelligence Scale-Revised). Alcoholic patients had statistically significant lower scores on MMSE, Verbal Fluency Test, and Digit Span, and higher scores on the Syndrome Short Test, while positive correlations were found among MMSE, Verbal Fluency Test, Clock Test, Digit Span-Backward, and age. These findings point to frontal lobe dysfunction in Greek alcoholic patients which is not different from that shown in patients from diverse ethnic and cultural backgrounds.     

Approach versus avoidance: different types of commitment in intimate relationships

The major objective of the present study was to examine whether approach versus avoidance commitment to one's intimate relationship was differentially predictive of relationship quality parameters in the long run. In the 1st testing period, 134 participants (67 romantic couples) answered questions about approach- versus avoidance-related measures. Commitment and relationship quality parameters such as satisfaction and emotions depending on the partner's presence were assessed in all 3 testing periods. The proposed distinction between an approach and an avoidance type of commitment was validated through correlations with other approach- versus avoidance-related measures. Longitudinal analyses revealed that approach commitment predicted relationship quality parameters positively, whereas avoidance commitment predicted them negatively. The results are discussed in terms of the benefit of an approach-avoidance-based conceptualization of commitment.     

Applying Research Domain Criteria to the study of emotion dysregulation in infancy and early childhood

Emotion regulation is a principal task of early development. The failure to develop effective emotion regulation skills is associated with behavioural, academic, psychological and socioemotional difficulties. Although researchers have studied emotion regulation for decades, work on emotion dysregulation—defined as the inability to maintain emotional control, engage with the environment or recover from distress in a developmentally appropriate manner—is rare and there are discrepancies in its conceptualisation among very young samples. While some scientists refer to emotion dysregulation as if it were a discrete concept, it may be more accurately depicted as a multidimensional system of developmental processes. The National Institute of Mental Health's Research Domain Criteria (RDoC) is a framework that allows researchers to track dysfunction across multiple areas of analysis and may be an ideal system for exploring the multidimensional nature of infant emotion dysregulation. In this paper, we draw on empirical studies to describe how the RDoC framework can be used to support studies of emotion dysregulation in infancy. This proposed model can also serve as a roadmap for future researchers to follow to generate the evidence base for a multidimensional conceptualisation of infant emotion dysregulation and its underlying mechanisms.     

Classifying Muslims: Contextualizing Religion and Race in the United Kingdom and Germany

Since the late 20th century, public discourse in Muslim-minority countries has centered around the question of how to classify Muslims. In this paper, we compare the state, academic, and self-classification of Muslims in two countries: the United Kingdom and Germany. We propose that the historical experience of anti-Semitism makes religion a more salient master category to understand Muslims in Germany, while the history of both anti-Semitism and anti-Black racism largely resulting from colonial domination means that religion together with race are master categories used to understand Muslims in the United Kingdom. Through this multilayered ethnographic and historical analysis, we challenge taken-for-granted assumptions in both the political and academic milieu about what it means to be Muslim, emphasizing the importance of the interplay between sociopolitical categories and self-identifications.