1. {{Abstracts of the European Academy of Childhood Disability 23rd Annual Meeting. June 8-11, 2011. Rome, Italy}}. {Dev Med Child Neurol};2011 (Jun);53 Suppl 3:1-69.
2. Chiang HM, Cheung YK, Hickson L, Xiang R, Tsai LY. {{Predictive Factors of Participation in Postsecondary Education for High School Leavers with Autism}}. {J Autism Dev Disord};2011 (May 27)
This exploratory study was designed to identify the factors predictive of participation in postsecondary education for high school leavers with autism. A secondary data analysis of the National Longitudinal Transition Study 2 (NLTS2) data was performed for this study. Potential predictors of participation in postsecondary education were assessed using a backward logistic regression analysis. This study found that the high school’s primary post-high school goal for the student, parental expectations, high school type, annual household income, and academic performance were significant predictors of participation in postsecondary education. The findings of this current study may provide critical information for parents of children with autism as well as educators and professionals who work with students with autism.
3. Hagerman R, Au J, Hagerman P. {{FMR1 premutation and full mutation molecular mechanisms related to autism}}. {J Neurodev Disord};2011 (May 27)
Fragile X syndrome (FXS) is caused by an expanded CGG repeat (>200 repeats) in the 5′ un-translated portion of the fragile X mental retardation 1 gene (FMR1) leading to a deficiency or absence of the FMR1 protein (FMRP). FMRP is an RNA-binding protein that regulates the translation of a number of other genes that are important for synaptic development and plasticity. Furthermore, many of these genes, when mutated, have been linked to autism in the general population, which may explain the high comorbidity that exists between FXS and autism spectrum disorders (ASD). Additionally, premutation repeat expansions (55 to 200 CGG repeats) may also give rise to ASD through a different molecular mechanism that involves a direct toxic effect of FMR1 mRNA. It is believed that RNA toxicity underlies much of the premutation-related involvement, including developmental concerns like autism, as well as neurodegenerative issues with aging such as the fragile X-associated tremor ataxia syndrome (FXTAS). RNA toxicity can also lead to mitochondrial dysfunction, which is common in older premutation carriers both with and without FXTAS. Many of the problems with cellular dysregulation in both premutation and full mutation neurons also parallel the cellular abnormalities that have been documented in idiopathic autism. Research regarding dysregulation of neurotransmitter systems caused by the lack of FMRP in FXS, including metabotropic glutamate receptor 1/5 (mGluR1/5) pathway and GABA pathways, has led to new targeted treatments for FXS. Preliminary evidence suggests that these new targeted treatments will also be beneficial in non-fragile X forms of autism.
4. Kim HS, Lee JJ, Cho AR, Kim DH, Choi CW. {{Squamous Cell Carcinoma of the Lung in an Autistic Child Who has Never Smoked}}. {J Pediatr Hematol Oncol};2011 (May 25)
Primary bronchogenic carcinoma of the lung is extremely rare in childhood, particularly the squamous cell type. Only 13 cases have been reported in the literature. We report a case of squamous cell carcinoma in an autistic, 16-year-old boy who presented with a productive cough. Interestingly, he was a never-smoker, but had been exposed to environmental tobacco smoking by his father for 13 years. The diagnosis was delayed by approximately 1 month due to his young age. He was diagnosed with squamous cell carcinoma of the lung by video-assisted thoracoscopic surgery, and chemotherapy was arranged. Considering his age, autism, and good performance status, a combined chemotherapeutic regimen with gemcitabine plus carboplatin was planned. After the second cycle of chemotherapy, the cough resolved and a computed tomography scan showed a partial response of the central conglomerated mass with the absence of the malignant pleural effusion.
5. Yasuda Y, Hashimoto R, Yamamori H, Ohi K, Fukumoto M, Umeda-Yano S, Mohri I, Ito A, Taniike M, Takeda M. {{Gene expression analysis in lymphoblasts derived from patients with autism spectrum disorder}}. {Mol Autism};2011 (May 26);2(1):9.
ABSTRACT: BACKGROUND: The autism spectrum disorders (ASDs) are complex neurodevelopmental disorders that result in severe and pervasive impairment in the development of reciprocal social interaction and verbal and nonverbal communication skills. In addition, individuals with ASD have stereotypical behavior, interests and activities. Rare mutations of some genes, such as neuroligin (NLGN) 3/4, neurexin (NRXN) 1, SHANK3, MeCP2 and NHE9, have been reported to be associated with ASD. In the present study, we investigated whether alterations in mRNA expression levels of these genes could be found in lymphoblastoid cell lines derived from patients with ASD. METHODS: We measured mRNA expression levels of NLGN3/4, NRXN1, SHANK3, MeCP2, NHE9 and AKT1 in lymphoblastoid cells from 35 patients with ASD and 35 healthy controls, as well as from 45 patients with schizophrenia and 45 healthy controls, using real-time quantitative reverse transcriptase polymerase chain reaction assays. RESULTS: The mRNA expression levels of NLGN3 and SHANK3 normalized by beta-actin or TBP were significantly decreased in the individuals with ASD compared to controls, whereas no difference was found in the mRNA expression level of MeCP2, NHE9 or AKT1. However, normalized NLGN3 and SHANK3 gene expression levels were not altered in patients with schizophrenia, and expression levels of NLGN4 and NRXN1 mRNA were not quantitatively measurable in lymphoblastoid cells. CONCLUSIONS: Our results provide evidence that the NLGN3 and SHANK3 genes may be differentially expressed in lymphoblastoid cell lines from individuals with ASD compared to those from controls. These findings suggest the possibility that decreased mRNA expression levels of these genes might be involved in the pathophysiology of ASD in a substantial population of ASD patients.
