Mental playmates: Siblings, executive functioning and theory of mind

This study assessed the theory of mind (ToM) and executive functioning (EF) abilities of 124 typically developing preschool children aged 3 to 5 years in relation to whether or not they had a child-aged sibling (i.e. a child aged 1 to 12 years) at home with whom to play and converse. On a ToM battery that included tests of false belief, appearance-reality (AR) and pretend representation, children who had at least 1 child-aged sibling scored significantly higher than both only children and those whose only siblings were infants or adults. The numbers of child-aged siblings in preschoolers' families positively predicted their scores on both a ToM battery (4 tasks) and an EF battery (2 tasks), and these associations remained significant with language ability partialled out. Results of a hierarchical multiple regression analysis revealed that independent contributions to individual differences in ToM were made by language ability, EF skill and having a child-aged sibling. However, even though some conditions for mediation were met, there was no statistically reliable evidence that EF skills mediated the advantage of presence of child-aged siblings for ToM performance. While consistent with the theory that distinctively childish interaction among siblings accelerates the growth of both TOM and EF capacities, alternative evidence and alternative theoretical interpretations for the findings were also considered.

HLA and Genomewide Allele Sharing in Dizygotic Twins

Gametic selection during fertilization or the effects of specific genotypes on the viability of embryos may cause a skewed transmission of chromosomes to surviving offspring. A recent analysis of transmission distortion in humans reported significant excess sharing among full siblings. Dizygotic (DZ) twin pairs are a special case of the simultaneous survival of two genotypes, and there have been reports of DZ pairs with excess allele sharing around the HLA locus, a candidate locus for embryo survival. We performed an allele-sharing study of 1,592 DZ twin pairs from two independent Australian cohorts, of which 1,561 pairs were informative for linkage on chromosome 6. We also analyzed allele sharing in 336 DZ twin pairs from The Netherlands. We found no evidence of excess allele sharing, either at the HLA locus or in the rest of the genome. In contrast, we found evidence of a small but significant (P = .003 for the Australian sample) genomewide deficit in the proportion of two alleles shared identical by descent among DZ twin pairs. We reconciled conflicting evidence in the literature for excess genomewide allele sharing by performing a simulation study that shows how undetected genotyping errors can lead to an apparent deficit or excess of allele sharing among sibling pairs, dependent on whether parental genotypes are known. Our results imply that gene-mapping studies based on affected sibling pairs that include DZ pairs will not suffer from false-positive results due to loci involved in embryo survival.

Genetic and Cultural Transmission of Smoking Initiation: An Extended Twin Kinship Model

Background Considerable evidence from twin and adoption studies indicates that genetic and shared environmental factors play a significant role in the initiation of smoking behavior. Although twin and adoption designs are powerful to detect genetic and environmental influences, they do not provide information on the processes of assortative mating and parent–offspring transmission and their contribution to the variability explained by genetic and/or environmental factors. Methods We examined the role of genetic and environmental factors for smoking initiation using an extended kinship design. This design allows the simultaneous testing of additive and non-additive genetic, shared and individual-specific environmental factors, as well as sex differences in the expression of genes and environment in the presence of assortative mating and combined genetic and cultural transmission. A dichotomous lifetime smoking measure was obtained from twins and relatives in the Virginia 30,000 sample. Results Results demonstrate that both genetic and environmental factors play a significant role in the liability to smoking initiation. Major influences on individual differences appeared to be additive genetic and unique environmental effects, with smaller contributions from assortative mating, shared sibling environment, twin environment, cultural transmission and resulting genotype–environment covariance. The finding of negative cultural transmission without dominance led us to investigate more closely two possible mechanisms for the lower parent–offspring correlations compared to the sibling and DZ twin correlations in subsets of the data: (i) age × gene interaction, and (ii) social homogamy. Neither mechanism provided a significantly better explanation of the data, although age regression was significant. Conclusions This study showed significant heritability, partly due to assortment, and significant effects of primarily non-parental shared environment on smoking initiation.

Biochemical correlates of cognition: exploring the relationships between blood, brain and behaviour

This multi-modal investigation aimed to refine analytic tools including proton magnetic resonance spectroscopy (1H-MRS) and fatty acid gas chromatography-mass spectrometry (GC-MS) analysis, for use with adult and paediatric populations, to investigate potential biochemical underpinnings of cognition (Chapter 1). Essential fatty acids (EFAs) are vital for the normal development and function of neural cells. There is increasing evidence of behavioural impairments arising from dietary deprivation of EFAs and their long-chain fatty acid metabolites (Chapter 2). Paediatric liver disease was used as a deficiency model to examine the relationships between EFA status and cognitive outcomes. Age-appropriate Wechsler assessments measured Full-scale IQ (FSIQ) and Information Processing Speed (IPS) in clinical and healthy cohorts; GC-MS quantified surrogate markers of EFA status in erythrocyte membranes; and 1H-MRS quantified neurometabolite markers of neuronal viability and function in cortical tissue (Chapter 3). Post-transplant children with early-onset liver disease demonstrated specific deficits in IPS compared to age-matched acute liver failure transplant patients and sibling controls, suggesting that the time-course of the illness is a key factor (Chapter 4). No signs of EFA deficiency were observed in the clinical cohort, suggesting that EFA metabolism was not significantly impacted by liver disease. A strong, negative correlation was observed between omega-6 fatty acids and FSIQ, independent of disease diagnosis (Chapter 5). In a study of healthy adults, effect sizes for the relationship between 1H-MRS- detectable neurometabolites and cognition fell within the range of previous work, but were not statistically significant. Based on these findings, recommendations are made emphasising the need for hypothesis-driven enquiry and greater subtlety of data analysis (Chapter 6). Consistency of metabolite values between paediatric clinical cohorts and controls indicate normal neurodevelopment, but the lack of normative, age-matched data makes it difficult to assess the true strength of liver disease-associated metabolite changes (Chapter 7). Converging methods offer a challenging but promising and novel approach to exploring brain-behaviour relationships from micro- to macroscopic levels of analysis (Chapter 8).

Patients and doctors working together in partnership:Birch v UCL Hospital NHS Foundation Trust [2008] EWHC 2237 (QB)

Of the myriad of pressing topics current in medical law and ethics, the issue of informed consent appears to be the ‘plainer sibling’. The decision by Cranston J in Birch v UCL Hospital NHS Foundation Trust in 2008 has brought into sharp relief that which many commentators already held to be true. Far from being the ‘plainer sibling’ when weighed against other prominent issues in medical law and ethics, the doctrine of informed consent, is one of the most significant principles to emerge in recent years.

Digital video transmission over wireless networks

The advent of the Integrated Services Digital Network (ISDN) led to the standardisation of the first video codecs for interpersonal video communications, followed closely by the development of standards for the compression, storage and distribution of digital video in the PC environment, mainly targeted at CD-ROM storage. At the same time the second-generation digital wireless networks, and the third-generation networks being developed, have enough bandwidth to support digital video services. The radio propagation medium is a difficult environment in which to deploy low bit error rate, real time services such as video. The video coding standards designed for ISDN and storage applications, were targeted at low bit error rate levels, orders of magnitude lower than the typical bit error rates experienced on wireless networks. This thesis is concerned with the transmission of digital, compressed video over wireless networks. It investigates the behaviour of motion compensated, hybrid interframe DPCM/DCT video coding algorithms, which form the basis of current coding algorithms, in the presence of high bit error rates commonly found on digital wireless networks. A group of video codecs, based on the ITU-T H.261 standard, are developed which are robust to the burst errors experienced on radio channels. The radio link is simulated at low level, to generate typical error files that closely model real world situations, in a Rayleigh fading environment perturbed by co-channel interference, and on frequency selective channels which introduce inter symbol interference. Typical anti-multipath techniques, such as antenna diversity, are deployed to mitigate the effects of the channel. Link layer error control techniques are also investigated.

Impact of peanut allergy on quality of life, stress and anxiety in the family

Background: Peanut allergy (PA) is known to impact on quality of life (QoL) of the sufferer, but little research has focused on all family members. We therefore sought to establish the impact of PA on QoL and reported anxiety of children with clinically confirmed PA, their parents and older siblings. Methods: Forty-six families, who had a child with PA, completed QoL (PedsQLTM or WHOQOL-BREF), anxiety (SCAS or STAI) and perceived stress (PSS) scales. PA children completed a PA specific QoL questionnaire (Pediatr Allergy Immunol 2003;14:378). Parents and sibling also completed QoL proxy questionnaires for the PA child (PedsQLTM, Pediatr Allergy Immunol 2003;14:378). Results: Mothers rated their own psychological (P < 0.01) and physical (P < 0.05) QoL significantly worse than fathers rated theirs, and had higher scores than fathers for anxiety (P < 0.05) and stress (P < 0.001). Children with PA had significantly poorer physical health-related QoL (P < 0.05), QoL within school (P < 0.01) and general QoL (P < 0.05) than their siblings did, and greater separation anxiety (P < 0.05). The majority of differences were between girls with PA and female siblings. Mothers felt that there was a greater impact on QoL for their PA child, compared with that reported by siblings, fathers or the PA children themselves (P < 0.01). Conclusions: Mothers report that they have significantly poorer QoL and suffer more anxiety and stress than fathers do; this inter-parental difference may be an important feature of family stress caused by PA. Siblings have a similar view of how QoL affects the PA child as the PA child does, while mothers may possibly overestimate this impact.

Improving storage performance through layout optimizations

Disk drives are the bottleneck in the processing of large amounts of data used in almost all common applications. File systems attempt to reduce this by storing data sequentially on the disk drives, thereby reducing the access latencies. Although this strategy is useful when data is retrieved sequentially, the access patterns in real world workloads is not necessarily sequential and this mismatch results in storage I/O performance degradation. This thesis demonstrates that one way to improve the storage performance is to reorganize data on disk drives in the same way in which it is mostly accessed. We identify two classes of accesses: static, where access patterns do not change over the lifetime of the data and dynamic, where access patterns frequently change over short durations of time, and propose, implement and evaluate layout strategies for each of these. Our strategies are implemented in a way that they can be seamlessly integrated or removed from the system as desired. We evaluate our layout strategies for static policies using tree-structured XML data where accesses to the storage device are mostly of two kinds—parent-to-child or child-to-sibling. Our results show that for a specific class of deep-focused queries, the existing file system layout policy performs better by 5–54X. For the non-deep-focused queries, our native layout mechanism shows an improvement of 3–127X. To improve performance of the dynamic access patterns, we implement a self-optimizing storage system that performs rearranges popular block accesses on a dedicated partition based on the observed workload characteristics. Our evaluation shows an improvement of over 80% in the disk busy times over a range of workloads. These results show that applying the knowledge of data access patterns for allocation decisions can substantially improve the I/O performance.

Improving Storage Performance Through Layout Optimizations

Disk drives are the bottleneck in the processing of large amounts of data used in almost all common applications. File systems attempt to reduce this by storing data sequentially on the disk drives, thereby reducing the access latencies. Although this strategy is useful when data is retrieved sequentially, the access patterns in real world workloads is not necessarily sequential and this mismatch results in storage I/O performance degradation. This thesis demonstrates that one way to improve the storage performance is to reorganize data on disk drives in the same way in which it is mostly accessed. We identify two classes of accesses: static, where access patterns do not change over the lifetime of the data and dynamic, where access patterns frequently change over short durations of time, and propose, implement and evaluate layout strategies for each of these. Our strategies are implemented in a way that they can be seamlessly integrated or removed from the system as desired. We evaluate our layout strategies for static policies using tree-structured XML data where accesses to the storage device are mostly of two kinds - parent-tochild or child-to-sibling. Our results show that for a specific class of deep-focused queries, the existing file system layout policy performs better by 5-54X. For the non-deep-focused queries, our native layout mechanism shows an improvement of 3-127X. To improve performance of the dynamic access patterns, we implement a self-optimizing storage system that performs rearranges popular block accesses on a dedicated partition based on the observed workload characteristics. Our evaluation shows an improvement of over 80% in the disk busy times over a range of workloads. These results show that applying the knowledge of data access patterns for allocation decisions can substantially improve the I/O performance.

Migration and Perception of Health Status: a Qualitative Study in Kazakh Chinese

This qualitative study explored the rural to urban migration’s effect and its related factors on later life health status and health perception among Kazakh Chinese. The participants were same sex sibling pairs, of which one moved from rural to urban areas in early life and the other stayed in rural areas. Rural participants tend to have more selected chronic diseases conditions and other self-reported conditions than urban participants but less physical limitations in older age. There is no clear difference on the health perceptions between rural and urban participants. Health care access and environmental factors are the major differences that may affect health in later life for rural participants.

Obstetric mode of delivery and child psychological development

Background/aims: Objective of the current thesis is to investigate the potential impact of birth by Caesarean section (CS) on child psychological development, including autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), behavioural difficulties and school performance. Structure/methods: Published literature to date on birth by CS, ASD and ADHD was reviewed (Chapter 2). Data from the UK Millennium Cohort Study (MCS) were analysed to determine the association between CS and ASD, ADHD and parent-reported behavioural difficulties (Chapter 3). The Swedish National Registers were used to further assess the association with ASD, ADHD and school performance (Chapters 4-6). Results: In the review, children born by CS were 23% more likely to be diagnosed with ASD after controlling for potential confounders. Only two studies reported adjusted estimates on the association between birth by CS and ADHD, results were conflicting and limited. CS was not associated with ASD, ADHD or behavioural difficulties in the UK MCS. In the Swedish National Registers, children born by CS were more likely to be diagnosed with ASD or ADHD. The association with elective CS did not persist when compared amongst siblings. There was little evidence of an association between birth by elective CS and poor school performance. Children born by elective CS had slight reduction in school performance. Conclusions: The lack of association with the elective CS in the sibling design studies indicates that the association in the population is most probably due to confounding. A small but significant association was found between birth by CS and school performance. However, the effect may have been due to residual confounding or confounding by indication and should be interpreted with caution. The overall conclusion is that birth by CS does not appear to have a causal relationship with the aspects of child psychological development investigated.

Toxoplasma gondii seropositive rates of animals living on Svalbard

Samples (blood or tissue fluid) from 594 arctic foxes (Alopex lagopus), 390 Svalbard reindeer (Rangifer tarandus platyrhynchus), 361 sibling voles (Microtus rossiaemeridionalis), 17 walruses (Odobenus rosmarus), 149 barnacle geese (Branta leucopsis), 58 kittiwakes (Rissa tridactyla), and 27 glaucous gulls (Larus hyperboreus) from Svalbard and nearby waters were assayed for antibodies against Toxoplasma gondii using a direct agglutination test. The proportion of seropositive animals was 43% in arctic foxes, 7% in barnacle geese, and 6% (1 of 17) in walruses. There were no seropositive Svalbard reindeer, sibling voles, glaucous gulls, or kittiwakes. The prevalence in the arctic fox was relatively high compared to previous reports from canid populations. There are no wild felids in Svalbard and domestic cats are prohibited, and the absence of antibodies against T gondii among the herbivorous Svalbard reindeer and voles indicates that transmission of the parasite by oocysts is not likely to be an important mechanism in the Svalbard ecosystem. Our results suggest that migratory birds, such as the barnacle goose, may be the most important vectors bringing the parasite to Svalbard. In addition to transmission through infected prey and carrion, the age-seroprevalence profile in the fox population suggests that their infection levels are enhanced by vertical transmission.

Phenotypical responses of Fucus vesiculosus germlings to warming, acidification, nutrient enrichment and local upwelling under natural fluctuations (July - September 2014)

During summer 2014 (mid-July - mid-September 2014), early life-stage Fucus vesiculosus were exposed to combined ocean acidification and warming (OAW) in the presence and absence of enhanced nutrient levels (OAW x N experiment). Subsequently, F. vesiculosus germlings were exposed to a final upwelling disturbance during 3 days (mid-September 2014). Experiments were performed in the near-natural scenario "Kiel Outdoor Benthocosms" including natural fluctuations in the southwestern Baltic Sea, Kiel Fjord, Germany (54°27 'N, 10°11 'W). Genetically different sibling groups and different levels of genetic diversity were employed to test to which extent genetic variation would result in response variation. The data presented here show the phenotypical response (growth and survival) of the different experimental populations of F. vesiculosus under OAW, nutrient enrichment and the upwelling event. Log effect ratios demonstrate the responses to enhanced OAW and nutrient concentrations relative to the ambient conditons. Carbon, nitrogen content (% DW) and C:N ratios were measured after the exposure of ambient and high nutrient levels. Abiotic conditions the OAW x nutrient experiment and the upwelling event, are shown.

The Influence of the Family in the Development of Talent in Sport

The purpose of the present study was to describe patterns in the dynamics of families of talented athletes throughout their development in sport. Four families, including three families of elite rowers and one family of an elite tennis player were examined. The framework provided by Ericsson, Krampe, and Tesch- Römer (1993) to explain expert performance served as the theoretical basis for the study. Ericsson et al. suggested that the acquisition of expert performance involves operating within three types of constraints: motivational, effort, and resource. In-depth interviews were conducted with each athlete, parent, and sibling to explore how they have dealt with these three constraints. A total of 15 individual interviews were conducted. Results permitted the identification of three phases of participation from early childhood to late adolescence: the sampling years, the specializing years, and the investment years. The dynamics of the family in each of these phases of development is discussed

The differential impact of oxytocin receptor (OXTR) genotypes on the risk of autism spectrum disorder (ASD) and resulting social communication deficits

Background: Autism spectrum disorder (ASD) is multifactorial and is likely the result of complex interactions between multiple environmental and genetic factors. Recently, it has been suggested that each symptom cluster of the disorder, such as poor social communication, may be mediated by different genetic influences. Genes in the oxytocin pathway, which mediates social behaviours in humans, have been studied with single nucleotide polymorphisms (SNPs) in the oxytocin receptor gene (OXTR) being implicated in ASD. This thesis examines the presence of different oxytocin receptor genotypes, and their associations with ASD and resulting social communication deficits. Methods: The relationship between four OXTR variants and ASD was evaluated in 607 ASD simplex (SPX) families. Cases were compared to their unaffected siblings using a conditional logistic approach. Odds ratios and associated 95 percent confidence intervals were obtained. A second sample of 235 individuals with a diagnosis of ASD was examined to evaluate whether these four OXTR variants were associated with social communication scores on the Autism Diagnostic Interview – Revised (ADI-R). Parameter estimates and associated 95 percent confidence intervals were generated using a linear regression approach. Multiple testing issues were addressed using false discovery adjustments. Results: The rs53576 AG genotype was significantly associated with a lower risk of ASD (OR = 0.707, 95% CI: 0.512-0.975). A single genotype (AG) provided by the rs2254298 marker was found to be significantly associated with higher social communication scores (Parameter estimate = 1.833, SE = 0.762, p = 0.0171). This association was also seen in a Caucasian only and mothers as the respondent samples. No association was significant following false discovery rate adjustments. Conclusion: The findings from these studies provide limited support for the role of OXTR SNPs in ASD, especially in social communication skills. The clinical significance of these associations remains unknown, however, it is likely that these associations do not play a role in the severity of symptoms associated with ASD. Rather, they may be important in the appearance of social deficits due to the rs2254298 markers association with enlarged amygdalas.