1. Rossetti Z, Ashby C, Arndt K, Chadwick M, Kasahara M. {{« I like others to not try to fix me »: agency, independence, and autism}}. {Intellect Dev Disabil};2008 (Oct);46(5):364-375.
This article is based on an interpretevist, qualitative research project conducted with individuals labeled with autism who type to communicate. Researchers engaged in participant observation and conducted open-ended interviews with 9 participants who were working to develop independent typing skills. Three findings emerged from this research. First, participants shaped a notion of independence that included dependence on various supports. Second, researchers recognized the concept of agency in the interactions between participants and their communication facilitators. Third, participants exercised control of their lives through these expressions of agency.
2. Shiow LR, Paris K, Akana MC, Cyster JG, Sorensen RU, Puck JM.{{ Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a coronin-1A mutation and a chromosome 16p11.2 deletion}}. {Clin Immunol};2008 (Dec 19)
Defects causing severe combined immunodeficiency (SCID) have been reported in pathways mediating antigen receptor rearrangement, antigen receptor and cytokine signaling, and purine metabolism. Recognizing that the actin regulator Coronin-1A is essential for development of a normal peripheral T cell compartment in mouse models, we identified absence of Coronin-1A in a girl with T-B+NK+ SCID who suffered recurrent infections including severe post-vaccination varicella at age 13 months. Murine Coronin-1A is essential for the release of T cells from the thymus, consistent with the paradoxically detectable thymus in our patient. Molecular analysis revealed a 2 bp deletion in the paternal CORO1A coding sequence paired with a 600 kb de novo deletion encompassing CORO1A on the maternal allele. This genomic region at 16p11.2 is subject to recurrent copy number variations associated with autism spectrum disorders, including attention deficit and hyperactivity, present in our patient. This case highlights the first link between actin cytoskeleton regulation and SCID.
3. Zhiling Y, Fujita E, Tanabe Y, Yamagata T, Momoi T, Momoi MY. {{Mutations in the gene encoding CADM1 are associated with autism spectrum disorder}}. {Biochem Biophys Res Commun};2008 (Dec 19);377(3):926-929.
The unified idea on the molecular pathogenesis of Autism Spectrum Disorder (ASD) is still unknown although mutations in genes encoding neuroligins and SHANK3 have been shown in a small part of the patients. RA175/SynCAM1/CADM1(CADM1), a member of immunoglobulin superfamily, is another synaptic cell adhesion molecule. To clarify the idea that impaired synaptogenesis underlies the pathogenesis of ASD, we examined the relationship between mutations in the CADM1 gene and ASD. We found two missense mutations, C739A(H246N) and A755C(Y251S), in the CADM1 gene of male Caucasian ASD patients and their family members. Both mutations were located in the third immunoglobulin domain, which is essential for trans-active interaction. The mutated CADM1 exhibited less amount of high molecular weight with the matured oligosaccharide, defective trafficking to the cell surface, and more susceptibility to the cleavage and or degradation. Our findings provide key support for the unified idea that impaired synaptogenesis underlies the pathogenesis of ASD.
