Molly Losh

''Frog, where are you?'' Narratives in children with specific language impairment, early focal brain injury, and Williams syndrome

In this cross-population study, we use narratives as a context to investigate language development in children from 4 to 12 years of age from three experimental groups: children with early unilateral focal brain damage (FL; N=52); children with specific language impairment (SLI; N=44); children with Williams syndrome (WMS; N=36), and typically developing controls. We compare the developmental trajectories of these groups in the following domains: morphological errors, use of complex syntax, complexity of narrative structure, and types and frequency of evaluative devices. For the children with early unilateral brain damage, there is initial delay. However, by age 10, they are generally within the normal range of performance for all narrative measures. Interestingly, there are few, if any, side specific differences. Children with SLI, who have no frank neurological damage and show no cognitive impairment demonstrate significantly more delay on all morphosyntactic measures than the FL group. Quantitatively, on morphosyntactic measures, the SLI group clusters with those children with WMS who are moderately retarded. Together these data help us to understand the extent and nature of brain plasticity for language development and those aspects of language and discourse that are dissociable.

Narrative ability in high-functioning children with autism or Asperger's Syndrome

This study examines the narrative abilities of 28 high-functioning children with autism or Aspergers Syndrome and 22 typically developing children across two different discourse contexts. As compared with the typically developing children, the high-functioning group performed relatively well in the storybook context but exhibited difficulty imbuing their narratives of personal experience with the more sophisticated characteristics typically employed by the comparison group. Furthermore, children with autism or Aspergers Syndrome demonstrated impairments inferring and building on the underlying causal relationships both within and across story episodes in both narrative contexts. Findings further revealed that the narrative abilities of children with autism or Aspergers Syndrome were associated with performance on measures of emotional understanding, but not theory of mind or verbal IQ. Findings are discussed in relation to the social and emotional underpinnings of narrative discourse.

Anorexia Nervosa and Autism Spectrum Disorders: Guided Investigation of Social Cognitive Endophenotypes.

Death by suicide occurs in a disproportionate percentage of individuals with anorexia nervosa (AN), with a standardized mortality ratio indicating a 57-fold greater risk of death from suicide relative to an age-matched cohort. Longitudinal studies indicate impaired social functioning increases risk for fatal outcomes, while social impairment persists following recovery. Study of social cognition in AN may elucidate impaired processes that may influence therapeutic efficacy. Symptoms of autism spectrum disorders (ASD) are overrepresented in those who evidence a chronic course. Relative to that in AN, social information processing in ASD is well characterized and may inform systematic study in AN. This article (a) reviews impaired interpersonal processes in AN, (b) compares the phenotype of AN with that of ASD, (c) highlights deficits of social cognitive disturbance in ASD relative to AN, and (d) proposes a new framework to understand the interaction of individuals with AN with their social context.

Neuropsychological profile of autism and the broad autism phenotype

CONTEXT Multiple articles describe a constellation of language, personality, and social-behavioral features present in relatives that mirror the symptom domains of autism, but are much milder in expression. Studies of this broad autism phenotype (BAP) may provide a potentially important complementary approach for detecting the genes causing autism and defining associated neural circuitry by identifying more refined phenotypes that can be measured quantitatively in both affected and unaffected individuals and that are tied to functioning in particular regions of the brain. OBJECTIVE To gain insight into neuropsychological features that index genetic liability to autism. DESIGN Case-control study. SETTING The general community. PARTICIPANTS Thirty-eight high-functioning individuals with autism and parents of autistic individuals, both with and without the BAP (n = 83), as well as control individuals. MAIN OUTCOME MEASURES A comprehensive battery of neuropsychological tasks assessing social cognition, executive function, and global vs local processing strategies (central coherence). RESULTS Both individuals with autism and parents with the BAP differed from controls on measures of social cognition, with performance in the other 2 domains being more similar to controls. CONCLUSIONS Data suggest that the social cognitive domain may be an important target for linking phenotype to cognitive process to brain structure in autism and may ultimately provide insight into the genes involved in autism.

Defining key features of the broad autism phenotype: A comparison across parents of multiple- and single-incidence autism families

This study examined the frequency of personality, language, and social‐behavioral characteristics believed to comprise the broad autism phenotype (BAP), across families differing in genetic liability to autism. We hypothesized that within this unique sample comprised of multiple‐incidence autism families (MIAF), single‐incidence autism families (SIAF), and control Down syndrome families (DWNS), a graded expression would be observed for the principal characteristics conferring genetic susceptibility to autism, in which such features would express most profoundly among parents from MIAFs, less strongly among SIAFs, and least of all among comparison parents from DWNS families, who should display population base rates. Analyses detected linear expression of traits in line with hypotheses, and further suggested differential intrafamilial expression across family types. In the vast majority of MIAFs both parents displayed BAP characteristics, whereas within SIAFs, it was equally likely that one, both, or neither parent show BAP features. The significance of these findings is discussed in relation to etiologic mechanisms in autism and relevance to molecular genetic studies.

Comparison of social cognitive functioning in schizophrenia and high functioning autism: more convergence than divergence

BACKGROUND Individuals with schizophrenia and individuals with high-functioning autism (HFA) seem to share some social, behavioral and biological features. Although marked impairments in social cognition have been documented in both groups, little empirical work has compared the social cognitive functioning of these two clinical groups. METHOD Forty-four individuals with schizophrenia, 36 with HFA and 41 non-clinical controls completed a battery of social cognitive measures that have been linked previously to specific brain regions. RESULTS The results indicate that the individuals with schizophrenia and HFA were both impaired on a variety of social cognitive tasks relative to the non-clinical controls, but did not differ from one another. When individuals with schizophrenia were divided into negative symptom and paranoid subgroups, exploratory analyses revealed that individuals with HFA may be more similar, in terms of the pattern of social cognition impairments, to the negative symptom group than to the paranoia group. CONCLUSIONS Our findings provide further support for similarities in social cognition deficits between HFA and schizophrenia, which have a variety of implications for future work on gene-brain-behavior relationships.

Understanding of Emotional Experience in Autism: Insights From the Personal Accounts of High-Functioning Children With Autism

In this study, the authors investigate emotional understanding in autism through a discourse analytic framework to provide a window into childrens strategies for interpreting emotional versus nonemotional encounters and consider the implications for the mechanisms underlying emotional understanding in typical development. Accounts were analyzed for thematic content and discourse structure. Whereas high-functioning children with autism were able to discuss contextually appropriate accounts of simple emotions, their strategies for interpreting all types of emotional (but not nonemotional) experiences differed from those used by typically developing children. High-functioning children with autism were less inclined to organize their emotional accounts in personalized causal-explanatory frameworks and displayed a tendency to describe visually salient elements of experiences seldom observed among comparison children. Findings suggest that children with autism possess less coherent representations of emotional experiences and use alternative strategies for interpreting emotionally evocative encounters. Discussion focuses on the significance of these findings for informing the nature of emotional dysfunction in autism as well as implications for theories of emotional understanding in typical development.

Current Developments in the Genetics of Autism : From Phenome to Genome

Despite compelling evidence from twin and family studies indicating a strong genetic involvement in the etiology of autism, the unequivocal detection of autism susceptibility genes remains an elusive goal. The purpose of this review is to evaluate the current state of autism genetics research, with attention focused on new techniques and analytic approaches. We first present a brief overview of evidence for the genetic basis of autism, followed by an appraisal of linkage and candidate gene study findings and consideration of new analytic approaches to the study of complex psychiatric conditions, namely, genome-wide association studies, assessment of structural variation within the genome, and the incorporation of endophenotypes in genetic analysis.

Associated features in females with an FMR1 premutation

Changes in the fragile X mental retardation 1 gene (FMR1) have been associated with specific phenotypes, most specifically those of fragile X syndrome (FXS), fragile X tremor/ataxia syndrome (FXTAS), and fragile X primary ovarian insufficiency (FXPOI). Evidence of increased risk for additional medical, psychiatric, and cognitive features and conditions is now known to exist for individuals with a premutation, although some features have been more thoroughly studied than others. This review highlights the literature on medical, reproductive, cognitive, and psychiatric features, primarily in females, that have been suggested to be associated with changes in the FMR1 gene. Based on this review, each feature is evaluated with regard to the strength of evidence of association with the premutation. Areas of need for additional focused research and possible intervention strategies are suggested.

Lower birth weight indicates higher risk of autistic traits in discordant twin pairs

BACKGROUND Autism spectrum disorder (ASD) is a neurodevelopmental disorder of complex etiology. Although strong evidence supports the causal role of genetic factors, environmental risk factors have also been implicated. This study used a co-twin-control design to investigate low birth weight as a risk factor for ASD. METHOD We studied a population-based sample of 3715 same-sex twin pairs participating in the Child and Adolescent Twin Study of Sweden (CATSS). ASD was assessed using a structured parent interview for screening of ASD and related developmental disorders, based on DSM-IV criteria. Birth weight was obtained from medical birth records maintained by the Swedish Medical Birth Registry. RESULTS Twins lower in birth weight in ASD-discordant twin pairs (n=34) were more than three times more likely to meet criteria for ASD than heavier twins [odds ratio (OR) 3.25]. Analyses of birth weight as a continuous risk factor showed a 13% reduction in risk of ASD for every 100 g increase in birth weight (n=78). Analysis of the effect of birth weight on ASD symptoms in the entire population (most of whom did not have ASD) showed a modest association. That is, for every 100 g increase in birth weight, a 2% decrease in severity of ASD indexed by scores on the Autism - Tics, attention-deficit hyperactivity disorder (AD/HD), and other Comorbidities (A-TAC) inventory would be expected in the sample as a whole. CONCLUSIONS The data were consistent with the hypothesis that low birth weight confers risk to ASD. Thus, although genetic effects are of major importance, a non-genetic influence associated with birth weight may contribute to the development of ASD.