'Objects in transition: the puppet and the autistic child'

Abstract Although claims for the efficacy of puppetry in therapeutic contexts lack extensive academic research, some published evidence does exist. A phenomenological and embodied approach is used here beginning with the writer’s own experience as a mother to theorize on the puppet’s role as a surrogate communicator and facilitator with children who lack communication skills. Instead of foregrounding language difficulties (as is often the case in writings on autism), this article focuses on the physical reality of a puppet. The writer explores notions of embodiment where neurological patterns are established through physical interaction with the world, and suggests ways in which this patterning may be interrupted or disturbed, and how puppets, as safe and to some extent controllable physical objects, may act therapeutically to re-establish some of these patterns. It is further suggested that puppets may work in similar ways to Winnicott’s ‘transitional objects’ in babyhood, operating in a ‘transitional space’. Winnicott claims that in a psychologically healthy adult, the comfort of infantile transitional objects and phenomena is transferred to religion, art and creativity – activities that provide a bridge between the inner world that we totally control and the external world, which we do not. Such activities are linked to a creative ‘space’ of mind and are psychologically necessary. Puppets operate in this space. Overall, stress is laid on the importance of the material reality of the puppet and its ‘objectness’ to help explain its particular efficacy

Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images

Optical Coherence Tomography (OCT) enables non-invasive imaging of the retina and is used to diagnose and manage ophthalmic diseases including glaucoma. We present the first large-scale genome-wide association study of inner retinal morphology using phenotypes derived from OCT images of 31,434 UK Biobank participants. We identify 46 loci associated with thickness of the retinal nerve fibre layer or ganglion cell inner plexiform layer. Only one of these loci has been associated with glaucoma, and despite its clear role as a biomarker for the disease, Mendelian randomisation does not support inner retinal thickness being on the same genetic causal pathway as glaucoma. We extracted overall retinal thickness at the fovea, representative of foveal hypoplasia, with which three of the 46 SNPs were associated. We additionally associate these three loci with visual acuity. In contrast to the Mendelian causes of severe foveal hypoplasia, our results suggest a spectrum of foveal hypoplasia, in part genetically determined, with consequences on visual function

Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

Primary open-angle glaucoma (POAG), is a heritable common cause of blindness world-wide. To identify risk loci, we conduct a large multi-ethnic meta-analysis of genome-wide association studies on a total of 34,179 cases and 349,321 controls, identifying 44 previously unreported risk loci and confirming 83 loci that were previously known. The majority of loci have broadly consistent effects across European, Asian and African ancestries. Cross-ancestry data improve fine-mapping of causal variants for several loci. Integration of multiple lines of genetic evidence support the functional relevance of the identified POAG risk loci and highlight potential contributions of several genes to POAG pathogenesis, including SVEP1, RERE, VCAM1, ZNF638, CLIC5, SLC2A12, YAP1, MXRA5, and SMAD6. Several drug compounds targeting POAG risk genes may be potential glaucoma therapeutic candidates. Primary open-angle glaucoma (POAG) is highly heritable, yet not well understood from a genetic perspective. Here, the authors perform a meta-analysis of genome-wide association studies in 34,179 POAG cases, identifying 44 previously unreported risk loci and mapping effects across multiple ethnicities

Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation.

Funder: EMBLFunder: Alcon Young Investigator AwardFunder: UKRI Future Leaders FellowshipPhotoreceptor cells (PRCs) are the light-detecting cells of the retina. Such cells can be non-invasively imaged using optical coherence tomography (OCT) which is used in clinical settings to diagnose and monitor ocular diseases. Here we present the largest genome-wide association study of PRC morphology to date utilising quantitative phenotypes extracted from OCT images within the UK Biobank. We discovered 111 loci associated with the thickness of one or more of the PRC layers, many of which had prior associations to ocular phenotypes and pathologies, and 27 with no prior associations. We further identified 10 genes associated with PRC thickness through gene burden testing using exome data. In both cases there was a significant enrichment for genes involved in rare eye pathologies, in particular retinitis pigmentosa. There was evidence for an interaction effect between common genetic variants, VSX2 involved in eye development and PRPH2 known to be involved in retinal dystrophies. We further identified a number of genetic variants with a differential effect across the macular spatial field. Our results suggest a continuum between common and rare variation which impacts retinal structure, sometimes leading to disease

Cannibalism versus funerary defleshing and disarticulation after a period of decay: comparisons of bone modifications from four prehistoric sites

Objectives Humanly induced modifications on human and non‐human bones from four archaeological sites of known funerary rituals (one interpreted as cannibalism and three interpreted as funerary defleshing and disarticulation after a period of decay) were analyzed to ascertain whether macromorphological and micromorphological characteristics of cut marks can be used to distinguish cannibalistic from secondary burial practices. Material and methods Four collections were analyzed: the Magdalenian assemblage from Gough\u27s Cave (UK) and the Mesolithic‐Neolithic bone samples from Lepenski Vir, Padina and Vlasac (Serbia). A total of 647 cut marks (345 on human and 302 on non‐human remains) were imaged and measured using an optical surface measurement system, the Alicona InfiniteFocus, housed at the Natural History Museum (London, UK). Results The frequency of cut marks at Gough\u27s Cave exceeds 65%, while it is below 1% in the Serbian sites, and no human tooth marks and only one case of percussion damage have been observed on the three Serbian collections. The distribution of cut marks on human bones is comparable in the four assemblages. Cannibalized human remains, however, present a uniform cut mark distribution, which can be associated with disarticulation of persistent and labile articulations, and the scalping and filleting of muscles. For secondary burials where modification occurred after a period of decay, disarticulation marks are less common and the disarticulation of labile joints is rare. The micromorphometric analyses of cut marks on human and non‐human remains suggest that cut marks produced when cleaning partially decayed bodies are significantly different from cut marks produced during butchery of fresh bodies. Conclusions A distinction between cannibalism and secondary treatment of human bodies can be made based on frequency, distribution and micromorphometric characteristics of cut marks