1. Gallagher A, Hallahan B. {{Fragile X-associated disorders: a clinical overview}}. {J Neurol};2011 (Jul 12)
Fragile X Syndrome (FraX) is the most common inherited cause of learning disability worldwide. FraX is an X-linked neuro-developmental disorder involving an unstable trinucleotide repeat expansion of cytosine guanine guanine (CGG). Individuals with the full mutation of FraX have >200 CGG repeats with premutation carriers having 55-200 CGG repeats. A wide spectrum of physical, behavioural, cognitive, psychiatric and medical problems have been associated with both full mutation and premutation carriers of FraX. In this review, we detail the clinical profile and examine the aetiology, epidemiology, neuropathology, neuroimaging findings and possible management strategies for individuals with both the full mutation and premutation of FraX.
Lien vers le texte intégral (Open Access ou abonnement)
2. Gardener H, Spiegelman D, Buka SL. {{Perinatal and Neonatal Risk Factors for Autism: A Comprehensive Meta-Analysis}}. {Pediatrics};2011 (Jul 11)
Background: The etiology of autism is unknown, although perinatal and neonatal exposures have been the focus of epidemiologic research for over 40 years. Objective: To provide the first review and meta-analysis of the association between perinatal and neonatal factors and autism risk. Methods: PubMed, Embase, and PsycInfo databases were searched for studies that examined the association between perinatal and neonatal factors and autism through March 2007. Forty studies were eligible for the meta-analysis. For each exposure, a summary effect estimate was calculated using a random-effects model. Heterogeneity in effect estimates across studies was examined, and, if found, a meta-regression was conducted to identify measured methodological factors that could explain between-study variability. Results: Over 60 perinatal and neonatal factors were examined. Factors associated with autism risk in the meta-analysis were abnormal presentation, umbilical-cord complications, fetal distress, birth injury or trauma, multiple birth, maternal hemorrhage, summer birth, low birth weight, small for gestational age, congenital malformation, low 5-minute Apgar score, feeding difficulties, meconium aspiration, neonatal anemia, ABO or Rh incompatibility, and hyperbilirubinemia. Factors not associated with autism risk included anesthesia, assisted vaginal delivery, postterm birth, high birth weight, and head circumference. Conclusions: There is insufficient evidence to implicate any 1 perinatal or neonatal factor in autism etiology, although there is some evidence to suggest that exposure to a broad class of conditions reflecting general compromises to perinatal and neonatal health may increase the risk. Methodological variations were likely sources of heterogeneity of risk factor effects across studies.
Lien vers le texte intégral (Open Access ou abonnement)
3. Greffou S, Bertone A, Hahler EM, Hanssens JM, Mottron L, Faubert J. {{Postural Hypo-Reactivity in Autism is Contingent on Development and Visual Environment: A Fully Immersive Virtual Reality Study}}. {J Autism Dev Disord};2011 (Jul 13)
Although atypical motor behaviors have been associated with autism, investigations regarding their possible origins are scarce. This study assessed the visual and vestibular components involved in atypical postural reactivity in autism. Postural reactivity and stability were measured for younger (12-15 years) and older (16-33 years) autistic participants in response to a virtual tunnel oscillating at different frequencies. At the highest oscillation frequency, younger autistic participants showed significantly less instability compared to younger typically-developing participants; no such group differences were evidenced for older participants. Additionally, no significant differences in postural behavior were found between all 4 groups when presented with static or without visual information. Results confirm that postural hypo-reactivity to visual information is present in autism, but is contingent on both visual environment and development.
Lien vers le texte intégral (Open Access ou abonnement)
4. Krajmer P, Spajdel M, Kubranska A, Ostatnikova D. {{2D:4D finger ratio in Slovak autism spectrum population}}. {Bratisl Lek Listy};2011;112(7):377-379.
Previous studies have revealed that autism may arise as the result of exposure to high concentrations of prenatal testosterone. Ratio of second and fourth digits (2D:4D) is usually used as a proxy for prenatal testosterone. In this study, 2D:4D in 56 boys with ASD and in 32 control boys was measured. We found that the 2D:4D in ASD boys were lower than the ratio in control boys. These findings are discussed with reference to the « extreme male-brain » theory of autism. Results achieved in this interdisciplinary research are valuable in further biological and psychological approaches in neurocognitive research and diagnostics of children from ASD (Tab. 1, Ref. 38).
Lien vers le texte intégral (Open Access ou abonnement)
5. Liu X, Malenfant P, Reesor C, Lee A, Hudson ML, Harvard C, Qiao Y, Persico AM, Cohen IL, Chudley AE, Forster-Gibson C, Rajcan-Separovic E, Lewis MS, Holden JJ. {{2p15-p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders}}. {Eur J Hum Genet};2011 (Jul 13)
Reports of unrelated individuals with autism spectrum disorder (ASD) and similar clinical features having overlapping de novo interstitial deletions at 2p15-p16.1 suggest that this region harbors a gene(s) important to the development of autism. We molecularly characterized two such deletions, selecting two genes in this region, exportin 1 (XPO1) and orthodenticle homolog 1 (OTX1) for association studies in three North American cohorts (Autism Spectrum Disorder – Canadian American Research Consortium (ASD-CARC), New York, and Autism Genetic Resource Exchange (AGRE)) and one Italian cohort (Societa Italiana per la Ricerca e la Formazione sull’Autismo (SIRFA)) of families with ASD. In XPO1, rs6735330 was associated with autism in all four cohorts (P<0.05), being significant in ASD-CARC cohorts (P-value following false discovery rate correction for multiple testing (P(FDR))=1.29 x 10(-5)), the AGRE cohort (P(FDR)=0.0011) and the combined families (P(FDR)=2.34 x 10(-9)). Similarly, in OTX1, rs2018650 and rs13000344 were associated with autism in ASD-CARC cohorts (P(FDR)=8.65 x 10(-7) and 6.07 x 10(5), respectively), AGRE cohort (P(FDR)=0.0034 and 0.015, respectively) and the combined families (P(FDR)=2.34 x 10(-9) and 0.00017, respectively); associations were marginal or insignificant in the New York and SIRFA cohorts. A significant association (P(FDR)=2.63 x 10(-11)) was found for the rs2018650G-rs13000344C haplotype. The above three SNPs were associated with severity of social interaction and verbal communication deficits and repetitive behaviors (P-values <0.01). No additional deletions were identified following screening of 798 ASD individuals. Our results indicate that deletion 2p15-p16.1 is not commonly associated with idiopathic ASD, but represents a novel contiguous gene syndrome associated with a constellation of phenotypic features (autism, intellectual disability, craniofacial/CNS dysmorphology), and that XPO1 and OXT1 may contribute to ASD in 2p15-p16.1 deletion cases and non-deletion cases of ASD mapping to this chromosome region.European Journal of Human Genetics advance online publication, 13 July 2011; doi:10.1038/ejhg.2011.112.
Lien vers le texte intégral (Open Access ou abonnement)
6. Naatanen R, Kujala T. {{The mismatch negativity and its magnetic equivalent: an index of language impairment or more general cognitive decline in autism?}}. {Biol Psychiatry};2011 (Aug 1);70(3):212-213.
Lien vers le texte intégral (Open Access ou abonnement)
7. Otto MW. {{Expanding findings on d-cycloserine augmentation of therapeutic learning: a role for social learning relative to autism spectrum disorders?}}. {Biol Psychiatry};2011 (Aug 1);70(3):210-211.
Lien vers le texte intégral (Open Access ou abonnement)
8. Vriend JL, Corkum PV, Moon EC, Smith IM. {{Behavioral Interventions for Sleep Problems in Children With Autism Spectrum Disorders: Current Findings and Future Directions}}. {J Pediatr Psychol};2011 (Jul 10)
OBJECTIVE: To examine behavioral interventions for sleep problems in children with autism spectrum disorders (ASD). METHODS: A systematic review evaluating all published studies examining the effectiveness of behavioral treatment of sleep problems in children with ASD is presented. RESULTS: Based on the Chambless criteria for treatment efficacy, both standard extinction and scheduled awakenings met criteria for possibly efficacious interventions for sleep problems in children with ASD. Some positive outcomes have been reported, but there has not been enough research examining graduated extinction, faded bedtime, stimulus fading and chronotherapy to make any firm conclusions regarding treatment efficacy for children with ASD. CONCLUSIONS: Although more rigorous research is required in order for any sleep interventions for children with ASD to be considered probably efficacious or well-established, the current literature should be used to guide clinical decisions and direct research questions.
Lien vers le texte intégral (Open Access ou abonnement)
9. Zalla T, Barlassina L, Buon M, Leboyer M. {{Moral judgment in adults with autism spectrum disorders}}. {Cognition};2011 (Jul 9)
The ability of a group of adults with high functioning autism (HFA) or Asperger Syndrome (AS) to distinguish moral, conventional and disgust transgressions was investigated using a set of six transgression scenarios, each of which was followed by questions about permissibility, seriousness, authority contingency and justification. The results showed that although individuals with HFA or AS (HFA/AS) were able to distinguish affect-backed norms from conventional affect-neutral norms along the dimensions of permissibility, seriousness and authority-dependence, they failed to distinguish moral and disgust transgressions along the seriousness dimension and were unable to provide appropriate welfare-based moral justifications. Moreover, they judged conventional and disgust transgressions to be more serious than did the comparison group, and the correlation analysis revealed that the seriousness rating was related to their ToM impairment. We concluded that difficulties providing appropriate moral justifications and evaluating the seriousness of transgressions in individuals with HFA/AS may be explained by an impaired cognitive appraisal system that, while responsive to rule violations, fails to use relevant information about the agent’s intentions and the affective impact of the action outcome in conscious moral reasoning.
