Centering the Inner Experience of Autism: Development of the Self-Assessment of Autistic Traits

Current tools for identifying autism are critiqued for their lack of specificity and sensitivity, especially in autistic people who are older, have higher verbal ability or significant compensatory skills, and are not cisgender boys. This may reflect the following: the historical focus of autism research on White (cisgender) male, upper and middle class children; limited interest in the inner, lived experience of autism; and the predominance of a deficit-based model of autism. We report here on the first attempt of which we are aware to develop a clinical self-report measure of autistic traits as described by autistic people. We believe this is an advance in methodology because prior work in the development of autistic trait/diagnostic measures has prioritized the perspectives of nonautistic clinicians and scientists. The measure was developed under the leadership of two autistic researchers and constructed by leveraging descriptions of autism by autistic people to generate items designed to encompass the range of the autistic experience, using strength-based, accessible language. The team utilized iterative feedback from a panel of autistic experts to refine and enhance the measure, called the Self Assessment of Autistic Traits (SAAT). It is intended for people 16 years or older and uses a format that is designed to increase its accessibility and acceptability for autistic respondents. Future work will report on the preliminary psychometrics of the SAAT, with a long-term goal of advancing our understanding of the inner autistic experience and enhancing the clinical and scientific assessment of autism

Moves in the territory of literacy? - the telephone discourse of three- and four-year-olds.

The concept of the ‘new communication landscape’ (Kress, 1998) is propelling a re-examination of what is meant by literacy, and the ways in which we seek to identify and promote literacy practices in young children.This article reviews theoretical moves to destabilize the dichotomy between oracy and literacy. Challenges posed by an examination of new technologies are set against those that draw on evidence from diverse cultural and historical contexts.The telephone presents a contemporary context that has been largely overlooked in child language research – yet this medium possesses its own specific constraints and opportunities for discourse, necessitating a shift away from the ‘here-and-now’ characteristic of very young children’s talk, to a consideration of the interlocutor’s distance characteristic of literacy. An analysis of the practices of three- and four-year-old children’s spontaneous telephone play demonstrates many ways in which their oral practices in this communication channel may be conceptualiz21ed within an understanding of their symbolic meaningmaking practices that is related to literacy, rather than a separate domain of activity. Finally, it is proposed that Bakhtin’s notion of ‘speech genre’ provides a particularly useful characterization of this important aspect of language development in the context of communication technology

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

Item does not contain fulltextAutosomal recessive cutis laxa (ARCL) syndromes are phenotypically overlapping, but genetically heterogeneous disorders. Mutations in the ATP6V0A2 gene were found to underlie both, autosomal recessive cutis laxa type 2 (ARCL2), Debre type, and wrinkly skin syndrome (WSS). The ATP6V0A2 gene encodes the a2 subunit of the V-type H(+)-ATPase, playing a role in proton translocation, and possibly also in membrane fusion. Here, we describe a highly variable phenotype in 13 patients with ARCL2, including the oldest affected individual described so far, who showed strikingly progressive dysmorphic features and heterotopic calcifications. In these individuals we identified 17 ATP6V0A2 mutations, 14 of which are novel. Furthermore, we demonstrate a localization of ATP6V0A2 at the Golgi-apparatus and a loss of the mutated ATP6V0A2 protein in patients' dermal fibroblasts. Investigation of brefeldin A-induced Golgi collapse in dermal fibroblasts as well as in HeLa cells deficient for ATP6V0A2 revealed a delay, which was absent in cells deficient for the ARCL-associated proteins GORAB or PYCR1. Furthermore, fibroblasts from patients with ATP6V0A2 mutations displayed elevated TGF-beta signalling and increased TGF-beta1 levels in the supernatant. Our current findings expand the genetic and phenotypic spectrum and suggest that, besides the known glycosylation defect, alterations in trafficking and signalling processes are potential key events in the pathogenesis of ATP6V0A2-related ARCL