Dance & Down Syndrome: Parental Perceptions on Dance and Movement-Based Interventions

This qualitative phenomenological study was designed to identify parent or guardian perceptions on the benefits of dance and movement-based interventions for their child who has Down syndrome. Individuals with Down syndrome face limitations in social-emotional skills, physical skills, and life skills, and research on the benefits of dance and movement-based interventions demonstrated some evidence of improvements in these skills. Researchers utilized a parent focus group in order to gain insight into how dance impacts their children with Down syndrome. A number of themes emerged from the data analysis process including improved movement, psychological well-being, and routine and retention. The theme of improved movement included concepts such as motor planning, balance, coordination, exercise, and increased strength and tone. The theme of psychological well-being included increased happiness, connecting with typically developing peers, and a sense of belonging. The theme of routine and retention included ideas about structure, routine, and learning and applying skills. The implications for dance and movement-based intervention in the field of occupational therapy are discussed, as well as suggestions for further research studies on this topic

Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia.

Schizophrenia is a severe psychiatric disorder with strong heritability and marked heterogeneity in symptoms, course, and treatment response. There is strong interest in identifying genetic risk factors that can help to elucidate the pathophysiology and that might result in the development of improved treatments. Linkage and genome-wide association studies (GWASs) suggest that the genetic basis of schizophrenia is heterogeneous. However, it remains unclear whether the underlying genetic variants are mostly moderately rare and can be identified by the genotyping of variants observed in sequenced cases in large follow-up cohorts or whether they will typically be much rarer and therefore more effectively identified by gene-based methods that seek to combine candidate variants. Here, we consider 166 persons who have schizophrenia or schizoaffective disorder and who have had either their genomes or their exomes sequenced to high coverage. From these data, we selected 5,155 variants that were further evaluated in an independent cohort of 2,617 cases and 1,800 controls. No single variant showed a study-wide significant association in the initial or follow-up cohorts. However, we identified a number of case-specific variants, some of which might be real risk factors for schizophrenia, and these can be readily interrogated in other data sets. Our results indicate that schizophrenia risk is unlikely to be predominantly influenced by variants just outside the range detectable by GWASs. Rather, multiple rarer genetic variants must contribute substantially to the predisposition to schizophrenia, suggesting that both very large sample sizes and gene-based association tests will be required for securely identifying genetic risk factors. © 2012 The American Society of Human Genetics

A genetic contribution from the Far East into Ashkenazi Jews via the ancient Silk Road

Contemporary Jews retain a genetic imprint from their Near Eastern ancestry, but obtained substantial genetic components from their neighboring populations during their history. Whether they received any genetic contribution from the Far East remains unknown, but frequent communication with the Chinese has been observed since the Silk Road period. To address this issue, mitochondrial DNA (mtDNA) variation from 55,595 Eurasians are analyzed. The existence of some eastern Eurasian haplotypes in eastern Ashkenazi Jews supports an East Asian genetic contribution, likely from Chinese. Further evidence indicates that this connection can be attributed to a gene flow event that occurred less than 1.4 kilo-years ago (kya), which falls within the time frame of the Silk Road scenario and fits well with historical records and archaeological discoveries. This observed genetic contribution from Chinese to Ashkenazi Jews demonstrates that the historical exchange between Ashkenazim and the Far East was not confined to the cultural sphere but also extended to an exchange of genes

Experimental Investigation of the Ne 19 (p,γ)20Na Reaction Rate and Implications for Breakout from the Hot CNO Cycle

The Ne19(p,γ)Na20 reaction is the second step of a reaction chain which breaks out from the hot CNO cycle, following the O15(α,γ)Ne19 reaction at the onset of x-ray burst events. We investigate the spectrum of the lowest proton-unbound states in Na20 in an effort to resolve contradictions in spin-parity assignments and extract reliable information about the thermal reaction rate. The proton-transfer reaction Ne19(d,n)Na20 is measured with a beam of the radioactive isotope Ne19 at an energy around the Coulomb barrier and in inverse kinematics. We observe three proton resonances with the Ne19 ground state, at 0.44, 0.66, and 0.82 MeV c.m. energies, which are assigned 3+, 1+, and (0+), respectively. In addition, we identify two resonances with the first excited state in Ne19, one at 0.20 MeV and one, tentatively, at 0.54 MeV. These observations allow us for the first time to experimentally quantify the astrophysical reaction rate on an excited nuclear state. Our experiment shows an efficient path for thermal proton capture in Ne19(p,γ)Na20, which proceeds through ground state and excited-state capture in almost equal parts and eliminates the possibility for this reaction to create a bottleneck in the breakout from the hot CNO cycle

Engaging children in meaningful charity: opening-up the spaces within which children learn to give

This paper presents qualitative evidence from an in-depth, participative action research project with 150 children aged 4-8 years old, exploring their experiences, perceptions and preferences regarding charitable giving. Most children positively engage in charitable giving through home, school and their community, however less than 20% are aware of the cause area they are being asked to support, and most have little decision-making in their giving. Children’s willingness to engage increases when they critically examine the cause area and are facilitated to lead on giving decisions, often resulting in increased and sustained efforts to support cause areas that matter to them

Genome-wide study of association and interaction with maternal cytomegalovirus infection suggests new schizophrenia loci.

Genetic and environmental components as well as their interaction contribute to the risk of schizophrenia, making it highly relevant to include environmental factors in genetic studies of schizophrenia. This study comprises genome-wide association (GWA) and follow-up analyses of all individuals born in Denmark since 1981 and diagnosed with schizophrenia as well as controls from the same birth cohort. Furthermore, we present the first genome-wide interaction survey of single nucleotide polymorphisms (SNPs) and maternal cytomegalovirus (CMV) infection. The GWA analysis included 888 cases and 882 controls, and the follow-up investigation of the top GWA results was performed in independent Danish (1396 cases and 1803 controls) and German-Dutch (1169 cases, 3714 controls) samples. The SNPs most strongly associated in the single-marker analysis of the combined Danish samples were rs4757144 in ARNTL (P=3.78 × 10(-6)) and rs8057927 in CDH13 (P=1.39 × 10(-5)). Both genes have previously been linked to schizophrenia or other psychiatric disorders. The strongest associated SNP in the combined analysis, including Danish and German-Dutch samples, was rs12922317 in RUNDC2A (P=9.04 × 10(-7)). A region-based analysis summarizing independent signals in segments of 100 kb identified a new region-based genome-wide significant locus overlapping the gene ZEB1 (P=7.0 × 10(-7)). This signal was replicated in the follow-up analysis (P=2.3 × 10(-2)). Significant interaction with maternal CMV infection was found for rs7902091 (P(SNP × CMV)=7.3 × 10(-7)) in CTNNA3, a gene not previously implicated in schizophrenia, stressing the importance of including environmental factors in genetic studies

Genome-wide association study identifies loci associated with liability to alcohol and drug dependence that is associated with variability in reward-related ventral striatum activity in African- and European-Americans.

Genetic influences on alcohol and drug dependence partially overlap, however, specific loci underlying this overlap remain unclear. We conducted a genome-wide association study (GWAS) of a phenotype representing alcohol or illicit drug dependence (ANYDEP) among 7291 European-Americans (EA; 2927 cases) and 3132 African-Americans (AA: 1315 cases) participating in the family-based Collaborative Study on the Genetics of Alcoholism. ANYDEP was heritable (h 2 in EA = 0.60, AA = 0.37). The AA GWAS identified three regions with genome-wide significant (GWS; P < 5E-08) single nucleotide polymorphisms (SNPs) on chromosomes 3 (rs34066662, rs58801820) and 13 (rs75168521, rs78886294), and an insertion-deletion on chromosome 5 (chr5:141988181). No polymorphisms reached GWS in the EA. One GWS region (chromosome 1: rs1890881) emerged from a trans-ancestral meta-analysis (EA + AA) of ANYDEP, and was attributable to alcohol dependence in both samples. Four genes (AA: CRKL, DZIP3, SBK3; EA: P2RX6) and four sets of genes were significantly enriched within biological pathways for hemostasis and signal transduction. GWS signals did not replicate in two independent samples but there was weak evidence for association between rs1890881 and alcohol intake in the UK Biobank. Among 118 AA and 481 EA individuals from the Duke Neurogenetics Study, rs75168521 and rs1890881 genotypes were associated with variability in reward-related ventral striatum activation. This study identified novel loci for substance dependence and provides preliminary evidence that these variants are also associated with individual differences in neural reward reactivity. Gene discovery efforts in non-European samples with distinct patterns of substance use may lead to the identification of novel ancestry-specific genetic markers of risk