1. Johnson K. {{Soldiering on. Military parents battle the system to help their autistic kids}}. {US News World Rep};2008 (Dec 29-2009 Jan 5);145(14):36-38.
2. Kanne SM, Christ SE, Reiersen AM. {{Psychiatric symptoms and psychosocial difficulties in young adults with autistic traits}}. {J Autism Dev Disord};2009 (Jun);39(6):827-833.
A screening version of the social responsiveness scale (SRS) was administered to 1,847 university students to identify a subgroup reporting significantly greater autism traits relative to their peers (High SRS group). A group reporting minimal autism traits was also identified (Low SRS group) matched for age, gender, and attentional difficulties. We administered the Behavioral Assessment System for Children-2nd edition (BASC-2), a comprehensive questionnaire designed to assess psychiatric symptoms and personality characteristics, to both groups. The high SRS group reported significantly more difficulties across the majority of areas, including depression/anxiety, interpersonal relationships, and personal adjustment. Thus, young adults reporting a greater degree of autistic traits also reported greater psychiatric difficulties across a wide psychosocial range.
3. Lipton SA, Li H, Zaremba JD, McKercher SR, Cui J, Kang YJ, Nie Z, Soussou W, Talantova M, Okamoto S, Nakanishi N. {{Autistic phenotype from MEF2C knockout cells}}. {Science};2009 (Jan 9);323(5911):208.
4. Nagarajan RP, Patzel KA, Martin M, Yasui DH, Swanberg SE, Hertz-Picciotto I, Hansen RL, Van de Water J, Pessah IN, Jiang R, Robinson WP, LaSalle JM. {{MECP2 promoter methylation and X chromosome inactivation in autism}}. {Autism Res};2008 (Jun);1(3):169-178.
Epigenetic mechanisms have been proposed to play a role in the etiology of autism. This hypothesis is supported by the discovery of increased MECP2 promoter methylation associated with decreased MeCP2 protein expression in autism male brain. To further understand the influence of female X chromosome inactivation (XCI) and neighboring methylation patterns on aberrant MECP2 promoter methylation in autism, multiple methylation analyses were peformed on brain and blood samples from individuals with autism. Bisulfite sequencing analyses of a region 0.6 kb upstream of MECP2 in brain DNA samples revealed an abrupt transition from a highly methylated region in both sexes to a region unmethylated in males and subject to XCI in females. Chromatin immunoprecipitation analysis demonstrated that the CCTC-binding factor (CTCF) bound to this transition region in neuronal cells, consistent with a chromatin boundary at the methylation transition. Male autism brain DNA samples displayed a slight increase in methylation in this transition region, suggesting a possible aberrant spreading of methylation into the MECP2 promoter in autism males across this boundary element. In addition, autistic female brain DNA samples showed evidence for aberrant MECP2 promoter methylation as an increase in the number of bisulfite sequenced clones with undefined XCI status for MECP2 but not androgen receptor (AR). To further investigate the specificity of MECP2 methylation alterations in autism, blood DNA samples from females and mothers of males with autism were also examined for XCI skewing at AR, but no significant increase in XCI skewing was observed compared to controls. These results suggest that the aberrant MECP2 methylation in autism brain DNA samples is due to locus-specific rather than global X chromosome methylation changes.
5. Zhang A, Shen CH, Ma SY, Ke Y, El Idrissi A. {{Altered expression of Autism-associated genes in the brain of Fragile X mouse model}}. {Biochem Biophys Res Commun};2009 (Feb 20);379(4):920-923.
Autism is a severe neurodevelopmental disorder, which typically emerges in early childhood. Most cases of autism have not been linked to mutations in a specific gene, and the etioloty of the disorder remains to be established [S.S. Moy, J.J. Nadler, T.R. Magnuson, J.N. Crawley, Mouse models of autism spectrum disorders: the challenge for behavioral genetics, Am. J. Med. Genet. 142 (2006) 40-51]. Fragile X syndrome is caused by mutation in the FMR1 gene and is characterized by mental retardation, physical abnormalities, and, in most case, autistic-like behavior [R.J. Hagerman, A.W. Jackson, A. Levitas, B. Rimland, M. Braden, An analysis of autism in fifty males with the Fragile X syndrome, Am. J. Med. Genet. 23 (1986) 359-374, C.E. Bakker, C. Verheij, R. Willemsen, R. van der Helm, F. Oerlemans, M. Vermeij, A. Bygrave, A.T. Hoogeveen, B.A. Oostra, E. Reyniers, K. De Boulle, R. D’Hooge, P. Cras, D. van Velzen, G. Nagels, J.J. Marti, P. De Deyn, J.K. Darby, P.J. Willems, Fmr1 knockout mice: a model to study Fragile X mental retardation, Cell 78 (1994) 23-33]. The FMR1 knockout (KO) mouse is one of the best characterized animal models for human disorders associated with autism [S.S. Moy, J.J. Nadler, T.R. Magnuson, J.N. Crawley, Mouse models of autism spectrum disorders: the challenge for behavioral genetics, Am. J. Med. Genet. 142 (2006) 40-51]. We have used real-time PCR to investigate changes in expression levels of three genes: WNT2, MECP2, and FMR1 in different brain regions of Fagile X mice and litter mate controls. We found major changes in the expression pattern for the three genes examined. FMR1, MECP2, and WNT2 expression were drastically down regulated in the Fragile X mouse brain.
