Genetic structure at range edge: Low diversity and high inbreeding in Southeast Asian mangrove (Avicennia marina) populations

Understanding the genetic composition and mating systems of edge populations provides important insights into the environmental and demographic factors shaping species’ distribution ranges. We analysed samples of the mangrove Avicennia marina from Vietnam, northern Philippines and Australia, with microsatellite markers. We compared genetic diversity and structure in edge (Southeast Asia, and Southern Australia) and core (North and Eastern Australia) populations, and also compared our results with previously published data from core and southern edge populations. Comparisons highlighted significantly reduced gene diversity and higher genetic structure in both margins compared to core populations, which can be attributed to very low effective population size, pollinator scarcity and high environmental pressure at distribution margins. The estimated level of inbreeding was significantly higher in northeastern populations compared to core and southern populations. This suggests that despite the high genetic load usually associated with inbreeding, inbreeding or even selfing may be advantageous in margin habitats due to the possible advantages of reproductive assurance, or local adaptation. The very high level of genetic structure and inbreeding show that populations of A. marina are functioning as independent evolutionary units more than as components of a metapopulation system connected by gene flow. The combinations of those characteristics make these peripheral populations likely to develop local adaptations and therefore to be of particular interest for conservation strategies as well as for adaptation to possible future environmental changes.

The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity

Anatomical structures and mechanisms linking genes to neuropsychiatric disorders are not deciphered. Reciprocal copy number variants at the 16p11.2 BP4-BP5 locus offer a unique opportunity to study the intermediate phenotypes in carriers at high risk for autism spectrum disorder (ASD) or schizophrenia (SZ). We investigated the variation in brain anatomy in 16p11.2 deletion and duplication carriers. Beyond gene dosage effects on global brain metrics, we show that the number of genomic copies negatively correlated to the gray matter volume and white matter tissue properties in cortico-subcortical regions implicated in reward, language and social cognition. Despite the near absence of ASD or SZ diagnoses in our 16p11.2 cohort, the pattern of brain anatomy changes in carriers spatially overlaps with the well-established structural abnormalities in ASD and SZ. Using measures of peripheral mRNA levels, we confirm our genomic copy number findings. This combined molecular, neuroimaging and clinical approach, applied to larger datasets, will help interpret the relative contributions of genes to neuropsychiatric conditions by measuring their effect on local brain anatomy.Molecular Psychiatry advance online publication, 25 November 2014; doi:10.1038/mp.2014.145.

High-density lipoprotein, beta cells, and diabetes .

High-density lipoproteins (HDLs) exert a series of potentially beneficial effects on many cell types including anti-atherogenic actions on the endothelium and macrophage foam cells. HDLs may also exert anti-diabetogenic functions on the beta cells of the endocrine pancreas, notably by potently inhibiting stress-induced cell death and enhancing glucose-stimulated insulin secretion. HDLs have also been found to stimulate insulin-dependent and insulin-independent glucose uptake into skeletal muscle, adipose tissue, and liver. These experimental findings and the inverse association of HDL-cholesterol levels with the risk of diabetes development have generated the notion that appropriate HDL levels and functionality must be maintained in humans to diminish the risks of developing diabetes. In this article, we review our knowledge on the beneficial effects of HDLs in pancreatic beta cells and how these effects are mediated. We discuss the capacity of HDLs to modulate endoplasmic reticulum stress and how this affects beta-cell survival. We also point out the gaps in our understanding on the signalling properties of HDLs in beta cells. Hopefully, this review will foster the interest of scientists in working on beta cells and diabetes to better define the cellular pathways activated by HDLs in beta cells. Such knowledge will be of importance to design therapeutic tools to preserve the proper functioning of the insulin-secreting cells in our body.

Physiological reactivity and the perception of emotional stimuli as they relate to social adaptive functioning after traumatic brain injury / y Melonie Jane Hopkins.

Traumatic brain injury (TBI) often affects social adaptive functioning and these changes in social adaptability are usually associated with general damage to the frontal cortex. Recent evidence suggests that certain neurons within the orbitofrontal cortex appear to be specialized for the processing of faces and facial expressions. The orbitofrontal cortex also appears to be involved in self-initiated somatic activation to emotionally-charged stimuli. According to Somatic Marker Theory (Damasio, 1994), the reduced physiological activation fails to provide an individual with appropriate somatic cues to personally-relevant stimuli and this, in turn, may result in maladaptive behaviour. Given the susceptibility of the orbitofrontal cortex in TBI, it was hypothesized that impaired perception and reactivity to socially-relevant information might be responsible for some of the social difficulties encountered after TBL Fifteen persons who sustained a moderate to severe brain injury were compared to age and education matched Control participants. In the first study, both groups were presented with photographs of models displaying the major emotions and either asked to identify the emotions or simply view the faces passively. In a second study, participants were asked to select cards from decks that varied in terms of how much money could be won or lost. Those decks with higher losses were considered to be high-risk decks. Electrodermal activity was measured concurrently in both situations. Relative to Controls, TBI participants were found to have difficulty identifying expressions of surprise, sadness, anger, and fear. TBI persons were also found to be under-reactive, as measured by electrodermal activity, while passively viewing slides of negative expressions. No group difference,in reactivity to high-risk card decks was observed. The ability to identify emotions in the face and electrodermal reactivity to faces and to high-risk decks in the card game were examined in relationship to social monitoring and empathy as described by family members or friends on the Brock Adaptive Functioning Questionnaire (BAFQ). Difficulties identifying negative expressions (i.e., sadness, anger, fear, and disgust) predicted problems in monitoring social situations. As well, a modest relationship was observed between hypo-arousal to negative faces and problems with social monitoring. Finally, hypo-arousal in the anticipation of risk during the card game related to problems in empathy. In summary, these data are consistent with the view that alterations in the ability to perceive emotional expressions in the face and the disruption in arousal to personally-relevant information may be accounting for some of the difficulties in social adaptation often observed in persons who have sustained a TBI. Furthermore, these data provide modest support for Damasio's Somatic Marker Theory in that physiological reactivity to socially-relevant information has some value in predicting social function. Therefore, the assessment of TBI persons, particularly those with adaptive behavioural problems, should be expanded to determine whether alterations in perception and reactivity to socially-relevant stimuli have occurred. When this is the case, rehabilitative strategies aimed more specifically at these difficulties should be considered.

Using the Reliable Change Index Statistic to Analyze Developmental Changes in Infants at Risk for Autism Spectrum Disorder

Longitudinal studies of the development of autism spectrum disorders (ASD) provide an understanding of which variables may be important predictors of an ASD. The objective of the current study is to apply the reliable change index (RCI) statistic to examine whether the Parent Observation of Early Markers Scale (POEMS) is sensitive to developmental change, and whether these changes can be quantified along a child’s developmental trajectory. Ninety-six children with older siblings with autism were followed from 1-36 months of age. Group-based RCI analysis confirms that the POEMS is capable of detecting significant changes within pre-defined diagnostic groups. Within-subject analysis suggests that ongoing monitoring of a child at-risk for an ASD requires interpretation of both significant intervals identified by the RCI statistic, as well as the presence of repeated high (i.e., >70) scores. This study provides preliminary evidence for a reasonably sensitive and specific means by which individual change can be clinically monitored via parent report.

Fit For Action: A Comparative Case Study of the Implementation of an Adaptive Fitness and Conditioning Program for Moderate Functioning Teens and Transition Age Youth with ASD

The purpose of my research was to develop and refine pedagogic approaches, and establish fitness baselines to adapt fitness and conditioning programs for Moderate-functioning ASD individuals. I conducted a seven-week study with two teens and two trainers. The trainers implemented individualized fitness and conditioning programs that I developed. I conducted pre and post fitness baselines for each teen, a pre and post study interview with the trainers, and recorded semi-structured observations during each session. I used multi-level, within-case and across case analyses, working inductively and deductively. My findings indicated that fundamental movement concepts can be used to establish fitness baselines and develop individualized fitness programs. I tracked and evaluated progressions and improvements using conventional measurements applied to unconventional movements. This process contributed to understanding and making relevant modifications to activities as effective pedagogic strategies for my trainers. Further research should investigate fitness and conditioning programs with lower functioning ASD individuals.

Equinoterapia en niños con autismo

Introducción: Autismo es un trastorno del desarrollo caracterizado por compromiso en interacción social, habilidades de lenguaje, presentando rituales con estereotipias. Sin tratamientos curativos, actualmente se buscan terapias alternativas. Un incremento de la literatura científica de terapias asistidas con animales se ha evidenciado, demostrando mejoría en pacientes autistas con la equinoterapia. Objetivo: Realizar una revisión sistemática de la literatura para evaluar efectividad de la equinoterapia en habilidades sociales y de lenguaje en niños autistas. Metodología: Revisión sistemática de la literatura de artículos obtenidos en bases de datos y Meta-buscadores que proporcionaron evidencia de equinoterapia en niños autistas. Tipo de artículos consultados: revisiones sistemáticas, meta análisis y ensayos clínicos. Trabajos publicados hasta 2013. En inglés y español. Se emplearon términos MeSH y EMTREE. Resultados: Cuatro artículos cumplieron criterios de inclusión y exclusión. Se analizaron los artículos individualmente, no se logró realizar un meta análisis por diferencias metodológicas entre los estudios. En total 85 sujetos fueron evaluados en dichos estudios. La equinoterapia en niños autistas evidenció mejoría en habilidades sociales y en las habilidades de lenguaje pre verbal. Discusión: La equinoterapia es prometedora en el manejo de niños autistas, los artículos evidencian consistentemente mejorías a nivel de habilidades sociales y de lenguaje. Debe ser considerado el tipo de paciente, el régimen de equinoterapia y la sostenibilidad de las mejoras. Conclusiones: Se necesitan nuevos estudio con un mayor rigor metodológico que permitan fortalecer la evidencia sobre la equinoterapia en niños con autismo y así poder realizar recomendaciones con un adecuado nivel de evidencia.

Psychiatric disorders in children with autism spectrum disorders: prevalence, comorbidity, and associated factors in a population-derived sample

Objective: Autism spectrum disorders are now recognized to occur in up to 1% of the population and to be a major public health concern because of their early onset, lifelong persistence, and high levels of associated impairment. Little is known about the associated psychiatric disorders that may contribute to impairment. We identify the rates and type of psychiatric comorbidity associated with ASDs and explore the associations with variables identified as risk factors for child psychiatric disorders. Method: A subgroup of 112 ten- to 14-year old children from a population-derived cohort was assessed for other child psychiatric disorders (3 months' prevalence) through parent interview using the Child and Adolescent Psychiatric Assessment. DSM-IV diagnoses for childhood anxiety disorders, depressive disorders, oppositional defiant and conduct disorders, attention-deficit/hyperactivity disorder, tic disorders, trichotillomania, enuresis, and encopresis were identified. Results: Seventy percent of participants had at least one comorbid disorder and 41% had two or more. The most common diagnoses were social anxiety disorder (29.2%, 95% confidence interval [CI)] 13.2-45.1), attention-deficit/hyperactivity disorder (28.2%, 95% CI 13.3-43.0), and oppositional defiant disorder (28.1%, 95% CI 13.9-42.2). Of those with attention/deficit/hyperactivity disorder, 84% received a second comorbid diagnosis. There were few associations between putative risk factors and psychiatric disorder. Conclusions: Psychiatric disorders are common and frequently multiple in children with autism spectrum disorders. They may provide targets for intervention and should be routinely evaluated in the clinical assessment of this group.

Validation of the social communication questionnaire in a population cohort of children with autism spectrum disorders

Objective: To examine the properties of the Social Communication Questionnaire (SCQ) in a population cohort of children with autism spectrum disorders (ASDs) and in the general population, Method: SCQ data were collected from three samples: the Special Needs and Autism Project (SNAP) cohort of 9- to 10-year-old children with special educational needs with and without ASD and two similar but separate age groups of children from the general population (n = 411 and n = 247). Diagnostic assessments were completed on a stratified subsample (n = 255) of the special educational needs group. A sample-weighting procedure enabled us to estimate characteristics of the SCQ in the total ASD population. Diagnostic status of cases in the general population samples were extracted from child health records. Results: The SCQ showed strong discrimination between ASD and non-ASD cases (sensitivity 0.88, specificity 0.72) and between autism and nonautism cases (sensitivity 0.90, specificity 0.86). Findings were not affected by child IQ or parental education. In the general population samples between 4% and 5% of children scored above the ASD cutoff including 1.5% who scored above the autism cutoff. Although many of these high-scoring children had an ASD diagnosis, almost all (similar to 90%) of them had a diagnosed neurodevelopmental disorder. Conclusions: This study confirms the utility of the SCQ as a,first-level screen for ASD in at-risk samples of school-age children.

Intact imitation of emotional facial actions in autism spectrum conditions.

It has been proposed that there is a core impairment in autism spectrum conditions (ASC) to the mirror neuron system (MNS): If observed actions cannot be mapped onto the motor commands required for performance, higher order sociocognitive functions that involve understanding another person's perspective, such as theory of mind, may be impaired. However, evidence of MNS impairment in ASC is mixed. The present study used an 'automatic imitation' paradigm to assess MNS functioning in adults with ASC and matched controls, when observing emotional facial actions. Participants performed a pre-specified angry or surprised facial action in response to observed angry or surprised facial actions, and the speed of their action was measured with motion tracking equipment. Both the ASC and control groups demonstrated automatic imitation of the facial actions, such that responding was faster when they acted with the same emotional expression that they had observed. There was no difference between the two groups in the magnitude of the effect. These findings suggest that previous apparent demonstrations of impairments to the MNS in ASC may be driven by a lack of visual attention to the stimuli or motor sequencing impairments, and therefore that there is, in fact, no MNS impairment in ASC. We discuss these findings with reference to the literature on MNS functioning and imitation in ASC, as well as theories of the role of the MNS in sociocognitive functioning in typical development.

Spoken word recognition in adolescents with autism spectrum disorders and specific language impairment

Spoken word recognition, during gating, appears intact in specific language impairment (SLI). This study used gating to investigate the process in adolescents with autism spectrum disorders plus language impairment (ALI). Adolescents with ALI, SLI, and typical language development (TLD), matched on nonverbal IQ listened to gated words that varied in frequency (low/high) and number of phonological onset neighbors (low/high density). Adolescents with ALI required more speech input to initially identify low-frequency words with low competitor density than those with SLI and those with TLD, who did not differ. These differences may be due to less well specified word form representations in ALI.

Hydrochemical processes in lowland rivers: insights from in situ, high-resolution monitoring

This paper introduces new insights into the hydrochemical functioning of lowland river systems using field-based spectrophotometric and electrode technologies. The streamwater concentrations of nitrogen species and phosphorus fractions were measured at hourly intervals on a continuous basis at two contrasting sites on tributaries of the River Thames – one draining a rural catchment, the River Enborne, and one draining a more urban system, The Cut. The measurements complement those from an existing network of multi-parameter water quality sondes maintained across the Thames catchment and weekly monitoring based on grab samples. The results of the sub-daily monitoring show that streamwater phosphorus concentrations display highly complex dynamics under storm conditions dependent on the antecedent catchment wetness, and that diurnal phosphorus and nitrogen cycles occur under low flow conditions. The diurnal patterns highlight the dominance of sewage inputs in controlling the streamwater phosphorus and nitrogen concentrations at low flows, even at a distance of 7 km from the nearest sewage treatment works in the rural River Enborne. The time of sample collection is important when judging water quality against ecological thresholds or standards. An exhaustion of the supply of phosphorus from diffuse and multiple septic tank sources during storm events was evident and load estimation was not improved by sub-daily monitoring beyond that achieved by daily sampling because of the eventual reduction in the phosphorus mass entering the stream during events. The results highlight the utility of sub-daily water quality measurements and the discussion considers the practicalities and challenges of in situ, sub-daily monitoring.

A genome wide association study of mathematical ability reveals an association at chromosome 3q29, a locus associated with autism and learning difficulties: a preliminary study

Mathematical ability is heritable, but few studies have directly investigated its molecular genetic basis. Here we aimed to identify specific genetic contributions to variation in mathematical ability. We carried out a genome wide association scan using pooled DNA in two groups of U.K. samples, based on end of secondary/high school national academic exam achievement: high (n = 419) versus low (n = 183) mathematical ability while controlling for their verbal ability. Significant differences in allele frequencies between these groups were searched for in 906,600 SNPs using the Affymetrix GeneChip Human Mapping version 6.0 array. After meeting a threshold of p<1.5×10-5, 12 SNPs from the pooled association analysis were individually genotyped in 542 of the participants and analyzed to validate the initial associations (lowest p-value 1.14 ×10-6). In this analysis, one of the SNPs (rs789859) showed significant association after Bonferroni correction, and four (rs10873824, rs4144887, rs12130910 rs2809115) were nominally significant (lowest p-value 3.278 × 10-4). Three of the SNPs of interest are located within, or near to, known genes (FAM43A, SFT2D1, C14orf64). The SNP that showed the strongest association, rs789859, is located in a region on chromosome 3q29 that has been previously linked to learning difficulties and autism. rs789859 lies 1.3 kbp downstream of LSG1, and 700 bp upstream of FAM43A, mapping within the potential promoter/regulatory region of the latter. To our knowledge, this is only the second study to investigate the association of genetic variants with mathematical ability, and it highlights a number of interesting markers for future study.

Atypical processing of voice sounds in infants at risk for Autism Spectrum Disorder

Adults diagnosed with autism spectrum disorder (ASD) show a reduced sensitivity (degree of selective response) to social stimuli such as human voices. In order to determine whether this reduced sensitivity is a consequence of years of poor social interaction and communication or is present prior to significant experience, we used functional MRI to examine cortical sensitivity to auditory stimuli in infants at high familial risk for later emerging ASD (HR group, N = 15), and compared this to infants with no family history of ASD (LR group, N = 18). The infants (aged between 4 and 7 months) were presented with voice and environmental sounds while asleep in the scanner and their behaviour was also examined in the context of observed parent-infant interaction. Whereas LR infants showed early specialisation for human voice processing in right temporal and medial frontal regions, the HR infants did not. Similarly, LR infants showed stronger sensitivity than HR infants to sad vocalisations in the right fusiform gyrus and left hippocampus. Also, in the HR group only, there was an association between each infant's degree of engagement during social interaction and the degree of voice sensitivity in key cortical regions. These results suggest that at least some infants at high-risk for ASD have atypical neural responses to human voice with and without emotional valence. Further exploration of the relationship between behaviour during social interaction and voice processing may help better understand the mechanisms that lead to different outcomes in at risk populations.

Green logistics: key elements for a well-functioning sustainable logistics system

A growing awareness of the modern society about the direct relationship between a growing global community with increasing total industrial activities on one hand and various environmental problems and a natural limitation of natural resources on the other hand set the base for sustainable or “green” approaches within the supply chain. This paper therefore will look at the issue of “Green Logistics” which seeks to reduce the environmental impact of logistics activities by taking into account functions such as recycling, waste and carbon emission reduction and the use of alternative sources of energy. In order to analyze how these approaches and ideas are being perceived by the system as a whole two models from the area of prospective and scenario planning are being used and described to identify the main drivers and tendencies within the system in order to create feasible hypothesis. Using the URCA/CHIVAS model allows us to identify the driver variables out of a high number of variables that best describe the system “Green Logistics”. Followed by the analysis of the actor’s strategies in the system with the Mactor model it is possible to reduce the complexity of a completely holistic system to a few key drivers that can be analyzed further on. Here the implications of URCA/CHIVAS and Mactor are being used to formulate hypotheses about the perception of Green Logistics and its successful implementation among logistics decision makers by an online survey. This research seeks to demonstrate the usefulness of scenario planning to a highly complex system observing it from all angles and extracting information about the relevant factors of it. The results of this demonstration indicate that there are drivers much beyond the factory walls that need to be considered when implementing successfully a system such as Green Logistics.