1. Bowker A, D’Angelo NM, Hicks R, Wells K. {{Treatments for Autism: Parental Choices and Perceptions of Change}}. {J Autism Dev Disord};2010 (Dec 16)

Empirically conducted studies of the efficacy of various treatments for autism are limited, which leaves parents with little evidence on which to base their treatment decisions (Kasari, Journal of Autism and Developmental Disorders, 32: 447-461, 2002). The purpose of this study was to examine the types of treatments in current use by families of children with ASD. In addition, parents’ perceptions of improvement in their child’s functioning were explored. Through an online survey, a sample of 970 parents of ASD children reported on the treatments currently in use, those discontinued, and reasons for discontinuation. Results indicate that most families adopt multiple treatment approaches. Parents were most likely to discontinue non-evidence based treatments when they did not see improvement in their child’s functioning.

2. Canal-Bedia R, Garcia-Primo P, Martin-Cilleros MV, Santos-Borbujo J, Guisuraga-Fernandez Z, Herraez-Garcia L, Del Mar Herraez-Garcia M, Boada-Munoz L, Fuentes-Biggi J, Posada-de la Paz M. {{Modified Checklist for Autism in Toddlers: Cross-Cultural Adaptation and Validation in Spain}}. {J Autism Dev Disord};2010 (Dec 16)

Early detection and treatment have been shown to be effective in reducing disability severity caused by Autistic Spectrum Disorders (ASDs). As Spanish pediatricians have no detection tool, the Modified Checklist for Autism in Toddlers (M-CHAT) was first translated into and culturally adapted to Spanish. Validity and reliability studies were carried out in two different geographical areas of Spain, where M-CHAT was administered to two different samples, namely: 2,480 high- and low-risk children; and 2,055 low-risk children. The results obtained were similar to those yielded by the original M-CHAT studies. Differences were found in positive predictive value, due to the low ASD frequency observed in this study. M-CHAT is still being studied in a large population-based screening program in Spain.

3. Chang SC, Pauls DL, Lange C, Sasanfar R, Santangelo SL. {{Common genetic variation in the GAD1 gene and the entire family of DLX homeobox genes and autism spectrum disorders}}. {Am J Med Genet B Neuropsychiatr Genet};2010 (Dec 16)

Biological and positional evidence supports the involvement of the GAD1 and distal-less homeobox genes (DLXs) in the etiology of autism. We investigated 42 single nucleotide polymorphisms in these genes as risk factors for autism spectrum disorders (ASD) in a large family-based association study of 715 nuclear families. No single marker showed significant association after correction for multiple testing. A rare haplotype in the DLX1 promoter was associated with ASD (P-value = 0.001). Given the importance of rare variants to the etiology of autism revealed in recent studies, the observed rare haplotype may be relevant to future investigations. Our observations, when taken together with previous findings, suggest that common genetic variation in the GAD1 and DLX genes is unlikely to play a critical role in ASD susceptibility. (c) 2010 Wiley-Liss, Inc.

4. Good P. {{Testing the blood of autistic children for ammonia}}. {Altern Med Rev};2010 (Sep);15(3):187.

5. Hadzsiev K, Polgar N, Bene J, Komlosi K, Karteszi J, Hollody K, Kosztolanyi G, Renieri A, Melegh B. {{Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations}}. {J Hum Genet};2010 (Dec 16)

Rett syndrome (RTT) is characterized by a relatively specific clinical phenotype. We screened 152 individuals with RTT phenotype. A total of 22 different known MECP2 mutations were identified in 42 subjects (27.6%). Of the 22 mutations, we identified 7 (31.8%) frameshift-causing deletions, 4 (18.2%) nonsense, 10 (45.5%) missense mutations and one insertion (4.5%). The most frequent pathologic changes were: p.Thr158Met (14.2%) and p.Arg133Cys (11.9%) missense, and p.Arg255Stop (9.5%) and p.Arg294Stop (9.5%) nonsense mutations. We also detected the c.925C>T (p.Arg309Trp) mutation in an affected patient, whose role in RTT pathogenesis is still unknown. Patients without detectable MECP2 defects were screened for mutations of cyclin-dependent kinase-like 5 (CDKL5) gene, responsible for the early-onset variant of RTT. We discovered two novel mutations: c.607G>T resulting in a termination codon at aa203, disrupting the catalytic domain, and c.1708G>T leading to a stop at aa570 of the C terminus. Both patients with CDKL5 mutation presented therapy-resistant epilepsy and a phenotype fitting with the diagnosis of early-onset variant of RTT. No FOXG1 mutation was detected in any of the remaining patients. A total of 110 (72.5%) patients remained without molecular genetic diagnosis that necessitates further search for novel gene mutations in this phenotype. Our results also suggest the need of screening for CDKL5 mutations in patients with Rett phenotype tested negative for MECP2 mutations.Journal of Human Genetics advance online publication, 16 December 2010; doi:10.1038/jhg.2010.156.

6. Volk HE, Hertz-Picciotto I, Delwiche L, Lurmann F, McConnell R. {{Residential Proximity to Freeways and Autism in the CHARGE study}}. {Environ Health Perspect};2010 (Dec 13)

Background: Little is known about environmental causes and contributing factors for autism. Basic science and epidemiological research suggest that oxidative stress and inflammation may play a role in disease development. Traffic-related air pollution, a common exposure with established effects on these pathways, contains substances found to have adverse prenatal effects. Objectives: To examine the association between autism and residence proximity, during pregnancy and near the time of delivery, to freeways and major roadways as a surrogate for air pollution exposure. Methods: Data were from 304 autism cases and 259 typically developing controls enrolled in the Childhood Autism Risks from Genetics and the Environment (CHARGE) Study. The mother’s address recorded on the birth certificate and trimester specific addresses derived from a residential history obtained by questionnaire were geo-coded and measures of distance to freeways and major roads were calculated using ArcGIS software. Logistic regression models compared residential proximity to freeways and major roads for autism cases and typically developing controls. Results: Adjusting for sociodemographic factors and maternal smoking, maternal residence at the time of delivery was more likely be near a freeway (</=309 meters) for cases, as compared to controls (odds ratio (OR), 1.86, 95% confidence interval (CI) 1.04-3.45). Autism was also associated with residential proximity to a freeway during the third trimester (OR, 2.22, CI, 1.16-4.42). After adjustment for socio-economic and demographic characteristics, these associations were unchanged. Living near other major roads at birth was not associated with autism. Conclusions: Living near a freeway was associated with autism. Examination of associations with measured air pollutants is needed.