1. Arranz B, Sintes A, Ramirez N, Rueda I, San L. {{Asperger Syndrome Can the disorder be diagnosed in the adult age?}}. {Actas Esp Psiquiatr}. 2011 May;39(3):196-200.
Introduction. Asperger Syndrome (AS) is characterized by a qualitative disorder of social interaction, a pattern of restrictive, repetitive and stereotyped behavior, interests and activities, with normal intellectual capacity and normal language skills in the areas of grammar and vocabulary. Since its inclusion in international taxonomies, there has been much controversy regarding its nosological validity. Clinical case. A patient with a diagnosis of AS in adulthood is described. Results from the psychopathological, personality and cognitive functioning assessment are included. Conclusions. Asperger Syndrome can also be diagnosed in adulthood and should be suspected whenever retrospective information and clinical assessment point to this diagnosis. Key words: Asperger, autism, differential diagnosis, comorbidity, neuropsychology.
2. Chiocchetti A, Pakalapati G, Duketis E, Wiemann S, Poustka A, Poustka F, et al. {{Mutation and expression analyses of the ribosomal protein gene RPL10 in an extended German sample of patients with autism spectrum disorder}}. {Am J Med Genet A}. 2011 May 12.
3. Ebstein RP, Mankuta D, Yirmiya N, Malavasi F. {{Are retinoids potential therapeutic agents in disorders of social cognition including autism?}}. {FEBS Lett}. 2011 May 7.
Increasing evidence suggests that the non-apeptide, oxytocin (OT), helps shape social and affiliative behaviors not only in lower mammals but also in humans. Recently, an essential mediator of brain OT release has been discovered, ADP-ribosyl cyclase and/or CD38. We have subsequently shown that polymorphisms across the CD38 gene are associated with autism spectrum disorders (ASD). Notably, CD38 expression in lymphoblastoid cells (LBC) is reduced in cell lines derived from ASD subjects compared to parental cell lines. Intriguingly, a correlation was observed between CD38 expression and measures of social function in ASD. Finally, we have shown that all-trans retinoic acid (ATRA), a known inducer of CD38 transcription, can rescue low CD38 expressing LBC lines derived from ASD subjects and restore normal levels of transcription of this ectoenzyme providing ‘proof of principle’ in a peripheral model that retinoids are potential therapeutic agents in ASD.
4. Kim YS, Leventhal BL, Koh YJ, Fombonne E, Laska E, Lim EC, et al. {{Prevalence of Autism Spectrum Disorders in a Total Population Sample}}. {Am J Psychiatry}. 2011 May 9.
Objective: Experts disagree about the causes and significance of the recent increases in the prevalence of autism spectrum disorders (ASDs). Limited data on population base rates contribute to this uncertainty. Using a population-based sample, the authors sought to estimate the prevalence and describe the clinical characteristics of ASDs in school-age children. Method: The target population was all 7- to 12-year-old children (N=55,266) in a South Korean community; the study used a high-probability group from special education schools and a disability registry and a low-probability, general-population sample from regular schools. To identify cases, the authors used the Autism Spectrum Screening Questionnaire for systematic, multi-informant screening. Parents of children who screened positive were offered comprehensive assessments using standardized diagnostic procedures. Results: The prevalence of ASDs was estimated to be 2.64% (95% CI=1.91-3.37), with 1.89% (95% CI=1.43-2.36) in the general-population sample and 0.75% (95% CI=0.58-0.93) in the high-probability group. ASD characteristics differed between the two groups: the male-to-female ratios were 2.5:1 and 5.1:1 in the general population sample and high-probability group, respectively, and the ratios of autistic disorders to other ASD subtypes were 1:2.6 and 2.6:1, respectively; 12% in the general-population sample had superior IQs, compared with 7% in the high-probability group; and 16% in the general-population sample had intellectual disability, compared with 59% in the high-probability group. Conclusions: Two-thirds of ASD cases in the overall sample were in the mainstream school population, undiagnosed and untreated. These findings suggest that rigorous screening and comprehensive population coverage are necessary to produce more accurate ASD prevalence estimates and underscore the need for better detection, assessment, and services.
5. Lakshmi Priya MD, Geetha A. {{A biochemical study on the level of proteins and their percentage of nitration in the hair and nail of autistic children}}. {Clin Chim Acta}. 2011 May 12;412(11-12):1036-42.
BACKGROUND: Autism is a complex disorder which is heterogeneous in nature with varying degrees of severity for which no specific biological marker has been identified. Several studies are focused on the hair and nail protein pattern as a means to identify specific markers for the diagnosis of many childhood disorders like mental retardation, dyslexia, trichorrhexis nodosa, trichothiodystrophy, etc. The present study is one such approach in investigating the electrophoretic pattern of proteins in hard keratins and their percentage of nitration since nitric oxide production and nitration of tyrosine residues in proteins of autistic children are the emerging topic of research. METHODS: We extracted and quantified the proteins from hair and nail samples of autistic children with different grades of severity, [low functioning autism (LFA), medium functioning autism (MFA), and high functioning autism (HFA)] and also from age- and sex-matched normal children. Protein pattern was evaluated by one-dimensional SDS-PAGE and the separated proteins were made to cross react with anti-nitro tyrosine antibody by Western blot analysis. Blood levels of TBARS, NO, GSH, vitamins A and C, SOD and GPx were also determined. RESULTS: In the autistic groups, decreased concentration of protein in both hair and nail samples was observed. The SDS-PAGE analysis revealed that there was a significant decrease in both high and low sulfur proteins in the hair and nail extracts of autistic children and the Western blot analysis showed increased percentage of nitration of low sulfur proteins in autistic children when compared with normal children. Decreased levels of enzymatic and non-enzymatic antioxidants and increased concentration of TBARS and NO were also observed in the blood of autistic children. The LFA group showed more significant alteration (p<0.001) in the concentration of proteins (in hair and nail) and percentage of nitration when compared with HFA and controls. CONCLUSION: Lower protein content and higher percentage of nitration in hair and nail of autistic children correlated with their degrees of severity.
6. Pellicano E, Stears M. {{Bridging autism, science and society: moving toward an ethically informed approach to autism research}}. {Autism Res}. 2011 May 12.
Recent developments in the science of autism have provoked widespread unease among autism activists. Drawing on the findings of a major international gathering of researchers, ethicists, and activists, this paper presents the first major analysis of the ethical questions arising from this unease. We outline the scientific developments that have provoked the most discomfort, analyze the response to these developments from within and without the autism community, and trace the current state of the ethical debate. Having done so, we contend that these ethical questions are unlikely to be resolved as they depend on fundamentally conflicting assumptions about the nature and desirability of neurocognitive difference. We conclude by arguing for a new range of democratic mechanisms that could enable the scientific community, autistics, and other concerned parties to respond collectively to such entrenched ethical disputes. Autism Res 2011,4:xxx-xxx. (c) 2011 International Society for Autism Research, Wiley Periodicals, Inc.
7. Perreault A, Gurnsey R, Dawson M, Mottron L, Bertone A. {{Increased sensitivity to mirror symmetry in autism}}. {PLoS One}. 2011;6(4):e19519.
Can autistic people see the forest for the trees? Ongoing uncertainty about the integrity and role of global processing in autism gives special importance to the question of how autistic individuals group local stimulus attributes into meaningful spatial patterns. We investigated visual grouping in autism by measuring sensitivity to mirror symmetry, a highly-salient perceptual image attribute preceding object recognition. Autistic and non-autistic individuals were asked to detect mirror symmetry oriented along vertical, oblique, and horizontal axes. Both groups performed best when the axis was vertical, but across all randomly-presented axis orientations, autistics were significantly more sensitive to symmetry than non-autistics. We suggest that under some circumstances, autistic individuals can take advantage of parallel access to local and global information. In other words, autistics may sometimes see the forest and the trees, and may therefore extract from noisy environments genuine regularities which elude non-autistic observers.
8. Shinawi M, Sahoo T, Maranda B, Skinner SA, Skinner C, Chinault C, et al. {{11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity}}. {Am J Med Genet A}. 2011 May 12.
Genomic copy number imbalances are being increasingly identified as an important cause of intellectual disability and behavioral abnormalities. The typical deletion in WAGR syndrome encompasses the PAX6 and WT1 genes, but larger deletions have been associated with neurobehavioral abnormalities and obesity. We identified four patients with overlapping interstitial deletions on 11p14.1 and extending telomeric to the WAGR critical domain. The minimal overlapping critical chromosomal region was 2.3 Mb at 11p14.1. The deletions encompass the BDNF and LIN7C genes that are implicated in the regulation of development and differentiation of neurons and synaptic transmission. All patients with this deletion exhibit variable degrees of developmental delay, behavioral problems, and obesity. Our data show that ADHD, autism, developmental delay, and obesity are highly associated with deletion involving 11p14.1 and provide additional support for a significant role of BDNF in obesity and neurobehavioral problems. (c) 2011 Wiley-Liss, Inc.
9. Szatmari P. {{New recommendations on autism spectrum disorder}}. {BMJ}. 2011;342:d2456.
