Visual methodologies, sand and psychoanalysis: employing creative participatory techniques to explore the educational experiences of mature students and children in care

Social science research has witnessed an increasing move towards visual methods of data production. However, some visual techniques remain pariah sites because of their association with psychoanalysis; and a reluctance to engage with psychoanalytically informed approaches outside of therapy based settings. This paper introduces the method of ‘sandboxing’, which was developed from the psychoanalytical approach of the ‘world technique’. ‘Sandboxing’ provides an opportunity for participants to create three-dimensional scenes in sand-trays, employing miniature figures and everyday objects. Data is presented from two studies conducted in Wales, UK. The first, exploring mature students’ accounts of higher education, and the second, exploring the educational experiences of children and young people in public care. The paper argues that psychoanalytical work can be adapted to enable a distinctive, valuable and ethical tool of qualitative inquiry; and illustrates how ‘sandboxing’ engendered opportunities to fight familiarity, enabled participatory frameworks, and contributed to informed policy and practice

Identification of Evi1 target genes in Rat1 transformed fibroblasts : a grounded theory of identity transformation in the process of graduate specialist practitioner engagement in practice development

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Genotype phenotype associations across the voltage-gated sodium channel family

Mutations in genes encoding voltage-gated sodium channels have emerged as the most clinically relevant genes associated with epilepsy, cardiac conduction defects, skeletal muscle channelopathies and peripheral pain disorders. Geneticists in partnership with neurologists and cardiologists are often asked to comment on the clinical significance of specific mutations. We have reviewed the evidence relating to genotype phenotype associations among the best known voltage-gated sodium channel related disorders. Comparing over 1300 sodium channel mutations in central and peripheral nervous system, heart and muscle, we have identified many similarities in the genetic and clinical characteristics across the voltage-gated sodium channel family. There is evidence, that the level of impairment a specific mutation causes can be anticipated by the underlying physico-chemical property change of that mutation. Across missense mutations those with higher Grantham scores are associated with more severe phenotypes and truncating mutations underlie the most severe phenotypes. Missense mutations are clustered in specific areas and are associated with distinct phenotypes according to their position in the protein. Inherited mutations tend to be less severe than de novo mutations which are usually associated with greater physico-chemical difference. These findings should lead to a better understanding of the clinical significance of specific voltage-gated sodium channel mutations, aiding geneticists and physicians in the interpretation of genetic variants and counselling individuals and their families

Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families

Background Mutations in the gene encoding the alpha subunit of the voltage-gated sodium channel SCN1A are associated with several epilepsy syndromes. These range from severe phenotypes including Dravet syndrome to milder phenotypes such as genetic epilepsy with febrile seizures plus (GEFS+). To date the sequence variants identified have been heterozygous in nature as one would expect for a disorder that occurs de novo or is dominantly inherited. Methods and Results We report the association of two novel homozygous missense mutations of the SCN1A gene in four children with infantile epilepsies from two consanguineous pedigrees. We suggest that the nature and location of the identified amino acid changes allows heterozygous carriers to remain unaffected. However, having such changes on both alleles may have a cumulative and detrimental effect. Conclusion The presented cases illustrate how better understanding of the nature and location of SCN1A missense mutations may aid the interpretation of genotype–phenotype associations. SCN1A related epilepsies should be considered in children with infantile onset epilepsies even when an autosomal recessive neurological disorder is suspected