1. Cukier HN, Skaar DA, Rayner-Evans MY, Konidari I, Whitehead PL, Jaworski JM, Cuccaro ML, Pericak-Vance MA, Gilbert JR. {{Identification of chromosome 7 inversion breakpoints in an autistic family narrows candidate region for autism susceptibility}}. {Autism Res};2009 (Oct 28)
Chromosomal breaks and rearrangements have been observed in conjunction with autism and autistic spectrum disorders. A chromosomal inversion has been previously reported in autistic siblings, spanning the region from approximately 7q22.1 to 7q31. This family is distinguished by having multiple individuals with autism and associated disabilities. The region containing the inversion has been strongly implicated in autism by multiple linkage studies, and has been particularly associated with language defects in autism as well as in other disorders with language components. Mapping of the inversion breakpoints by FISH has localized the inversion to the region spanning approximately 99-108.75 Mb of chromosome 7. The proximal breakpoint has the potential to disrupt either the coding sequence or regulatory regions of a number of cytochrome P450 genes while the distal region falls in a relative gene desert. Copy number variant analysis of the breakpoint regions detected no duplication or deletion that could clearly be associated with disease status. Association analysis in our autism data set using single nucleotide polymorphisms located near the breakpoints showed no significant association with proximal breakpoint markers, but has identified markers near the distal breakpoint ( approximately 108-110 Mb) with significant associations to autism. The chromosomal abnormality in this family strengthens the case for an autism susceptibility gene in the chromosome 7q22-31 region and targets a candidate region for further investigation.
2. Davidson J. {{‘It cuts both ways’: A relational approach to access and accommodation for autism}}. {Soc Sci Med};2009 (Oct 31)
Drawing on a qualitative study of 45 autobiographical texts by authors with autism spectrum disorders (ASDs), this paper examines and attempts to aggregate recommendations for challenging barriers to socio-spatial inclusion. The autobiographies were selected by means of purposive sampling and subjected to a sequential process of detailed annotation, manual coding for emergent themes, and ongoing critical discourse analysis until data-saturation occurred. Resulting findings reveal that the extraordinarily heightened senses typically associated with ASDs mean that those on the spectrum often struggle to process environmental stimuli in a way that makes sense. Negotiating the sensory geographies of daily life requires considerable work, and while the access afforded by such cognitive and emotional labour may be rewarding, ASD authors reveal that their efforts are rarely understood – or assisted – by non-autistic others. Many proposed accommodations could, however, be made with relative ease, and ASD texts provide good reasons and recommendations for toning down ‘toxic’ stimuli – such as fluorescent lights – and for redesigning or reorganizing the shared sensory ‘furniture’ of social space. The paper thus suggests that by attending closely to voices from the spectrum, the non-autistic majority might ensure responsibilities to open access are taken seriously, and do indeed ‘cut both ways’.
3. Gastgeb HZ, Rump KM, Best CA, Minshew NJ, Strauss MS. {{Prototype formation in autism: Can individuals with autism abstract facial prototypes?}} {Autism Res};2009 (Oct 28)
Prototype formation is a critical skill for category learning. Research suggests that individuals with autism may have a deficit in prototype formation of some objects; however, results are mixed. This study used a natural category, faces, to further examine prototype formation in high-functioning individuals with autism. High-functioning children (age 8-13 years) and adults with autism (age 17-53 years) and matched controls were tested in a facial prototype formation task that has been used to test prototype formation abilities in typically developing infants and adults [Strauss, 1979]. Participants were familiarized to a series of faces depicting subtle variations in the spatial distance of facial features, and were then given a forced choice familiarity test between the mean prototype and the mode prototype. Overall, individuals in the autism group were significantly less likely to select the mean prototype face. Even though the children with autism showed this difference in prototype formation, this pattern was driven primarily by the adults, because the adults with autism were approximately four times less likely to select the mean prototype than were the control adults. These results provide further evidence that individuals with autism have difficulty abstracting subtle spatial information that is necessary not only for the formation of a mean prototype, but also for categorizing faces and objects.
4. Geschwind DH.{{ Autism: the ups and downs of neuroligin}}. {Biol Psychiatry};2009 (Nov 15);66(10):904-905.
5. Msall ME. {{Establishing a translational science for autistic spectrum disorders for children and their families: optimizing function, participation, and well-being}}. {J Pediatr};2009 (Mar);154(3):319-321.
