1. {{No « magic pill » for autism spectrum disorders. Although medication prescriptions are common, there is little evidence they do any good}}. {Harv Ment Health Lett};2011 (Aug);28(2):4.
2. Al-Ayadhi LY. {{Relationship Between Sonic Hedgehog Protein, Brain-Derived Neurotrophic Factor and Oxidative Stress in Autism Spectrum Disorders}}. {Neurochem Res};2011 (Oct 9)
The etiology of autism spectrum disorders (ASD) is not well known but oxidative stress has been suggested to play a pathological role. We report here that the serum levels of Sonic hedgehog (SHH) protein and brain-derived neurotrophic factor (BDNF) might be linked to oxidative stress in ASD. By using the whole blood or polymorphonuclear leukocytes, we demonstrated that autistic children produced a significantly higher level of oxygen free radicals (OFR). In addition, we found significantly higher levels of serum SHH protein in children with mild as well as severe form of autism. We also found that the serum level of BDNF was significantly reduced in autistic children with mild form of the disorder but not with severe form of the disorder. Our findings are the first to report a correlation between SHH, BDNF and OFR in autistic children, suggesting a pathological role of oxidative stress and SHH in autism spectrum disorders.
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3. Chevallier C, Grezes J, Molesworth C, Berthoz S, Happe F. {{Brief Report: Selective Social Anhedonia in High Functioning Autism}}. {J Autism Dev Disord};2011 (Oct 11)
Diminished social motivation is one of the most striking features in autism. Yet, few studies have directly assessed the value people with an ASD place on social interactions, or how rewarding they report it to be. In the present study, we directly measure social motivation by looking at responses to a questionnaire assessing self-reported pleasure in social and non social situations. Twenty-nine adolescents with ASD and matched controls took part in the study. Our results reveal that children with an ASD differ from the controls with respect to social enjoyment, but not with respect to physical and other sources of hedonism. Further analyses demonstrate that the degree of social anhedonia correlates with autism severity.
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4. Dempsey AG, Llorens A, Brewton C, Mulchandani S, Goin-Kochel RP. {{Emotional and Behavioral Adjustment in Typically Developing Siblings of Children with Autism Spectrum Disorders}}. {J Autism Dev Disord};2011 (Oct 8)
Research findings describing the emotional and behavioral functioning of typically developing (TD) siblings of children with autism spectrum disorders (ASD) are contradictory. Methodological issues, such as small study sample sizes and reliance on parent report, may contribute to inconsistent findings. The purpose of this study was to use parent and teacher report to describe presence of internalizing and externalizing behaviors among a large sample (n = 486) of TD siblings of children with ASD. Results indicated that siblings did not exhibit a disproportionate prevalence of internalizing or externalizing symptoms in comparison to the standardization sample of the rating scale. The presence of a sibling with an ASD may not be considered a risk-factor for adjustment problems among TD siblings.
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5. Dundas EM, Best CA, Minshew NJ, Strauss MS. {{A Lack of Left Visual Field Bias When Individuals with Autism Process Faces}}. {J Autism Dev Disord};2011 (Oct 11)
It has been established that typically developing individuals have a bias to attend to facial information in the left visual field (LVF) more than in the right visual field. This bias is thought to arise from the right hemisphere’s advantage for processing facial information, with evidence suggesting it to be driven by the configural demands of face processing. Considering research showing that individuals with autism have impaired face processing abilities, with marked deficits in configural processing, it was hypothesized that they would not demonstrate a LVF bias for faces. Eye-tracking technology was used to show that individuals with autism were not spontaneously biased to facial information in the LVF, in contrast to a control group, while discriminating facial gender.
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6. Ghoneim OM, Ibrahim DA, El-Deeb IM, Lee SH, Booth RG. {{A novel potential therapeutic avenue for autism: Design, synthesis and pharmacophore generation of SSRIs with dual action}}. {Bioorg Med Chem Lett};2011 (Sep 21)
Autism symptoms are currently modulated by Selective Serotonin Reuptake Inhibitors (SSRIs). SSRIs slow onset of action limits their efficiency. The established synergistic activity of SSRIs and 5HT(1B/1D) autoreceptors antagonists motivated us to incorporate SSRIs and 5HT(1B/1D) antagonists in one ‘hybrid’ molecule. A library of virtual ‘hybrid’ molecules was designed using the tethering technique. A pharmacophore model was generated derived from 16 structurally diverse SSRIs (K(i)=0.013-5000nM) and used as 3D query. Compounds with fit values (2) were chosen for synthesis and subsequent in vitro biological evaluation. Our pharmacophore model is a promising milestone to a class of SSRIs with dual action.
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7. Palomo Seldas R. {{[The symptoms of autism spectrum disorders in the first two years of life: a review of longitudinal prospective studies.]}}. {An Pediatr (Barc)};2011 (Oct 7)
The prospective longitudinal studies of infant siblings of children with Autism Spectrum Disorders (ASD) are revolutionising our understanding of the disorder, offering us the opportunity to examine its development in detail from birth. In this paper we will present a detailed summary of the early symptoms that characterise children with autism from birth to two years of age. The description of the symptoms description will be based on the data from longitudinal prospective studies of children with ASD published to date. The review will conclude with research employing retrospective methodologies. We will discuss the ASD symptoms reviewing those in the first and second year separately, as well as the onset patterns of the disorder. We will highlight those symptoms that allow us to differentiate ASD from other developmental disabilities. ASD are defined by a constellation of symptoms. Studies did not find any differences between ASD and typical development at 6 months of age. The data show that the earliest specific manifestations of ASD are not seen until the end of the first year of life and involve a decreased interest in social stimuli. Other social, communicative, symbolic and in some cases, repetitive and stereotyped interests and behaviours gradually appear in the second year of life, as well as atypical sensorial behaviours. In the second year of life the difficulties in sharing interests with others are noticeable. We will conclude by commenting on the relevance of the data reviewed for the theoretical models explaining autism.
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8. Senechal C, Fontaine C, Larivee S, Legault F. {{[Integration in workforce of Quebec adults living with Autism Spectrum Disorder or Asperger Syndrome]}}. {Sante Ment Que};2011 (Spring);36(1):181-199.
This article presents an exploratory study evaluating the impact of the program Employment Pact: Quebec in Full Force (2008) aimed at the integration in the workforce of adults living with Autism Spectrum Disorder (ASD) or Asperger Syndrome (AS). This program is implemented in different regions in Quebec. The evaluation takes into consideration working conditions, integration procedures, as well as receptivity of eventual employers. Results demonstrate that the working conditions for these individuals are relatively similar, however, the type and number of services offered, as well as the training of service agents vary from one centre to another.
9. Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, Repnikova EA, Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C, Ernst C, Lindgren AM, Morton CC, An Y, Astbury C, Brueton LA, Lichtenbelt KD, Ades LC, Fichera M, Romano C, Innis JW, Williams CA, Bartholomew D, Van Allen MI, Parikh A, Zhang L, Wu BL, Pyatt RE, Schwartz S, Shaffer LG, de Vries BB, Gusella JF, Elsea SH. {{Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder}}. {Am J Hum Genet};2011 (Oct 7);89(4):551-563.
Persons with neurodevelopmental disorders or autism spectrum disorder (ASD) often harbor chromosomal microdeletions, yet the individual genetic contributors within these regions have not been systematically evaluated. We established a consortium of clinical diagnostic and research laboratories to accumulate a large cohort with genetic alterations of chromosomal region 2q23.1 and acquired 65 subjects with microdeletion or translocation. We sequenced translocation breakpoints; aligned microdeletions to determine the critical region; assessed effects on mRNA expression; and examined medical records, photos, and clinical evaluations. We identified a single gene, methyl-CpG-binding domain 5 (MBD5), as the only locus that defined the critical region. Partial or complete deletion of MBD5 was associated with haploinsufficiency of mRNA expression, intellectual disability, epilepsy, and autistic features. Fourteen alterations, including partial deletions of noncoding regions not typically captured or considered pathogenic by current diagnostic screening, disrupted MBD5 alone. Expression profiles and clinical characteristics were largely indistinguishable between MBD5-specific alteration and deletion of the entire 2q23.1 interval. No copy-number alterations of MBD5 were observed in 7878 controls, suggesting MBD5 alterations are highly penetrant. We surveyed MBD5 coding variations among 747 ASD subjects compared to 2043 non-ASD subjects analyzed by whole-exome sequencing and detected an association with a highly conserved methyl-CpG-binding domain missense variant, p.79Gly>Glu (c.236G>A) (p = 0.012). These results suggest that genetic alterations of MBD5 cause features of 2q23.1 microdeletion syndrome and that this epigenetic regulator significantly contributes to ASD risk, warranting further consideration in research and clinical diagnostic screening and highlighting the importance of chromatin remodeling in the etiology of these complex disorders.
