1. Adamson LB, Bakeman R, Deckner DF, Nelson PB. {{Rating Parent-Child Interactions: Joint Engagement, Communication Dynamics, and Shared Topics in Autism, Down Syndrome, and Typical Development}}. {J Autism Dev Disord};2012 (Mar 31)
A battery of 17 rating items were applied to video records of typically-developing toddlers and young children with autism and Down syndrome interacting with their parents during the Communication Play Protocol. This battery provided a reliable and broad view of the joint engagement triad of child, partner, and shared topic. Ratings of the child’s joint engagement correlated very strongly with state coding of joint engagement and replicated the finding that coordinated joint engagement was less likely in children with autism. Ratings of other child actions, of parent contributions, and of shared topics and communicative dynamics also documented pervasive variations related to diagnosis, language facility, and communicative context.
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2. de Cock M, Maas YG, van de Bor M. {{Does perinatal exposure to endocrine disruptors induce autism spectrum and attention deficit hyperactivity disorders? Review}}. {Acta Paediatr};2012 (Mar 28)
Aim: To provide an overview of studies on perinatal exposure in humans to EDCs in relation to autism spectrum (ASD) and attention deficit hyperactivity (ADHD) disorders. Methods: A review of the literature (PubMed) was performed. Exposure related keywords, including various chemicals, were matched with keywords describing outcome. Animal studies as well as publications not written in English were excluded. In total 834 titles were retrieved. The final selection included 21 publications. Results: Positive associations were found for ASD in relation to exposure to all chemicals investigated, which included hazardous air pollutants, pesticides, and bisphenol A (BPA). Increased risks for ADHD or positive associations were found for exposure to polychlorinated biphenyls (PCBs), dialkyl phosphate (DAP), and chlorpyrifos. BPA, polybrominated diphenylethers (PBDEs), and low molecular weight (LMW) phthalates were positively associated with externalizing behaviour. Five out of seventeen studies did not find any association between exposure and ADHD. Conclusion: Perinatal exposure to EDCs appears to be associated with the occurrence of ASD as well as ADHD. Disruption of thyroid hormone function and gamma-aminobutyric acid (GABA)ergic mechanisms may offer an explanation for the observed relations, though conclusive evidence in humans is limited. (c) 2012 The Author(s)/Acta Paediatrica (c) 2012 Foundation Acta Paediatrica.
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3. Freitag CM, Feineis-Matthews S, Valerian J, Teufel K, Wilker C. {{The Frankfurt early intervention program FFIP for preschool aged children with autism spectrum disorder: a pilot study}}. {J Neural Transm};2012 (Mar 30)
Different early intervention programs, developed predominantly in the US, for preschool aged children with autism spectrum disorders (ASD) have been published. Several systematic review articles including a German Health Technology Assessment on behavioural and skill-based early interventions in children with ASD reported insufficient evidence and a substantial problem of generalisability to the German context. In Germany, approx. 2-5 h early intervention is supported by social services. Here, we report the results of a 1 year pre-post pilot study on a developmentally based social pragmatic approach, the Frankfurt Early Intervention program FFIP. In FFIP, individual 2:1, behaviourally and developmentally based therapy with the child is combined with parent training and training of kindergarten teachers. Treatment frequency is 2 h/week. Outcome measures were the Vineland Adaptive Behaviour Scales II (VABS), mental age and the ADOS severity score. Improvements after 1 year were observed for the VABS socialisation scale and the mental age quotient/IQ (medium effect sizes). Results are comparable with several other studies with a similar or slightly higher therapeutic intensity implementing comparable or different early intervention methods or programs. Compared to most high-intensity programs (30-40 h/week), lower cognitive gains were observed. Results have to be replicated and assessed by a randomized-controlled study before any final conclusions can be drawn.
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4. Hare DJ. {{New research methodologies and hitherto unexamined issues in autism as well as lines of inquiry that have been overlooked of late}}. {Autism};2012 (Jan);16(1):3-4.
5. Jacot-Descombes S, Uppal N, Wicinski B, Santos M, Schmeidler J, Giannakopoulos P, Heinsein H, Schmitz C, Hof PR. {{Decreased pyramidal neuron size in Brodmann areas 44 and 45 in patients with autism}}. {Acta Neuropathol};2012 (Mar 31)
Autism is a neurodevelopmental disorder characterized by deficits in social interaction and social communication, as well as by the presence of repetitive and stereotyped behaviors and interests. Brodmann areas 44 and 45 in the inferior frontal cortex, which are involved in language processing, imitation function, and sociality processing networks, have been implicated in this complex disorder. Using a stereologic approach, this study aims to explore the presence of neuropathological differences in areas 44 and 45 in patients with autism compared to age- and hemisphere-matched controls. Based on previous evidence in the fusiform gyrus, we expected to find a decrease in the number and size of pyramidal neurons as well as an increase in volume of layers III, V, and VI in patients with autism. We observed significantly smaller pyramidal neurons in patients with autism compared to controls, although there was no difference in pyramidal neuron numbers or layer volumes. The reduced pyramidal neuron size suggests that a certain degree of dysfunction of areas 44 and 45 plays a role in the pathology of autism. Our results also support previous studies that have shown specific cellular neuropathology in autism with regionally specific reduction in neuron size, and provide further evidence for the possible involvement of the mirror neuron system, as well as impairment of neuronal networks relevant to communication and social behaviors, in this disorder.
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6. Li Y, Jin P. {{RNA-mediated neurodegeneration in fragile X-associated tremor/ataxia syndrome}}. {Brain Res};2012 (Mar 9)
Carriers of fragile X syndrome (FXS) have FMR1 alleles, called premutations, with a number of 5′-untranslated-CGG repeats somewhere between patients, who have over 200 repeats, and normal individuals, with fewer than 60 repeats. Fragile X-associated tremor/ataxia syndrome (FXTAS), a late-onset neurodegenerative disorder, has been recognized in older male fragile X premutation carriers, and FXTAS is uncoupled from the neurodevelopmental disorder, FXS. Several lines of evidence have led to the proposal of an RNA (fragile X premutation rCGG repeat)-mediated gain-of-function toxicity model for FXTAS, in which rCGG repeat-binding proteins (RBPs) could become functionally limited by their sequestration to lengthy rCGG repeats. In this review, we will discuss the recent progress towards understanding the molecular basis of RNA-mediated neurodegeneration in FXTAS. This article is part of a Special Issue entitled: RNA-Binding Proteins.
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7. Lipkin PH. {{Lessons and opportunities from autism screening in high-risk children}}. {Dev Med Child Neurol};2012 (Mar 28)
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8. Mattila ML, Jussila K, Linna SL, Kielinen M, Bloigu R, Kuusikko-Gauffin S, Joskitt L, Ebeling H, Hurtig T, Moilanen I. {{Validation of the Finnish Autism Spectrum Screening Questionnaire (ASSQ) for Clinical Settings and Total Population Screening}}. {J Autism Dev Disord};2012 (Mar 30)
We assessed the validity and determined cut-off scores for the Finnish Autism Spectrum Screening Questionnaire (ASSQ). A population sample of 8-year-old children (n = 4,408) was rated via the ASSQ by parents and/or teachers, and a subgroup of 104 children was examined via structured interview, semi-structured observation, IQ measurement, school observation, and medical records. Autism spectrum disorders (ASDs) were diagnosed following DSM-IV-TR criteria. A search for hospital-registered ASDs was performed. For Finnish higher-functioning primary school-aged, 7- to 12-year-olds, the optimal cut-off score was 30 in clinical settings and 28 in total population screening using summed ASSQ scores of parents’ and teachers’ ratings. Determining appropriate cut-off scores in ASD screening in different languages and in different cultures is of utmost importance.
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9. Moore T, Johnson S, Hennessy E, Marlow N. {{Screening for autism in extremely preterm infants: problems in interpretation}}. {Dev Med Child Neurol};2012 (Mar 28)
Aim The aim of this article was to report the prevalence of, and risk factors for, positive autism screens using the Modified Checklist for Autism in Toddlers (M-CHAT) in children born extremely preterm in England. Method All children born at not more than 26 weeks’ gestational age in England during 2006 were recruited to the EPICure-2 study. At 2 years of age, postal questionnaires incorporating the M-CHAT and additional developmental questions were sent to the parents of each survivor (n=1031; 499 male, 532 female), of which 523 (266 male, 257 female; 51%) were returned completed. Results The prevalence of positive M-CHAT screens in this extremely preterm population was 41% (216/523; 130 male; 86 female). Severe bronchopulmonary dysplasia, administration of postnatal steroids, late-onset bacteraemia, and being male were statistically significantly associated with a positive screen. Coexisting disabilities were present in 320 (62%) children. Of 200 children without disability, 16.5% screened positive. In contrast, 63 (95.5%) of those with severe motor impairment (odds ratio 42; 95% confidence interval [CI] 12.9-135) and 175 (55.9%) of those with cognitive impairment (odds ratio 5.3; CI 3.5-8) screened positive. All children with a significant vision or hearing impairment screened positive. Interpretation The prevalence of positive M-CHAT screens in extremely preterm children is high, especially in children with neurodevelopmental impairment. Positive screens should be interpreted in the light of other neurodevelopmental sequelae in clinical practice to avoid false-positive referrals.
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10. Nagar Shimoni H, Weizmann A, Yoran RH, Raviv A. {{Theory of mind, severity of autistic symptoms and parental correlates in children and adolescents with Asperger syndrome}}. {Psychiatry Res};2012 (Mar 26)
This study addresses the theory of mind (ToM) ability of Asperger’s syndrome/high functioning autism (AS/HFA) children and their parents and the severity of the autistic symptoms. Fifty-three families, each consisting of a mother, father and a child, participated in this study (N=159). The 53 children in the sample included 25 children diagnosed with AS/HFA and 28 typically developing (TD) children. The Social Attribution Task (SAT; Klin, 2000) and tests assessing autistic symptoms were used. AS/HFA children scored less than TD children on three of the SAT indices (Person, ToM Affective, and Salience). Fathers of AS/HFA children did not score less than fathers of TD children on the SAT task, whereas mothers of AS/HFA children scored less on the Person index, a pattern similar to their children, suggesting a possible genetic contribution of mothers to ToM deficit in AS/HFA children.
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11. Santos TH, Barbosa MR, Pimentel AG, Lacerda CA, Balestro JI, Amato CA, Fernandes FD. {{Comparing the use of the Childhood Autism Rating Scale and the Autism Behavior Checklist protocols to identify and characterize autistic individuals}}. {J Soc Bras Fonoaudiol};2012;24(1):104-106.
PURPOSE: To compare the results obtained in the Autism Behavior Checklist with those obtained in the Childhood Autism Rating Scale to identify and characterize children with Autism Spectrum Disorders. METHODS: Participants were 28 children with psychiatric diagnosis within the autism spectrum that were enrolled in language therapy in a specialized service. These children were assessed according to the Autism Behavior Checklist and Childhood Autism Rating Scale criteria, based on information obtained with parents and therapists, respectively. Data were statistically analyzed regarding the agreement between responses. Results indicating high or moderate probability of autism in the Autism Behavior Checklist were considered concordant with the results indicating mild-to-moderate or severe autism in the Childhood Autism Rating Scale. Results indicating low probability of autism in the Autism Behavior Checklist and without autism in the Childhood Autism Rating Scale were also considered concordant. RESULTS: There was agreement on most of the responses. Cases in which there was disagreement between results obtained on both protocols corroborate literature data, showing that the instruments may not be sufficient, if applied alone, to define the diagnosis. CONCLUSION: The Childhood Autism Rating Scale may not effectively diagnose autistic children, while the Autism Behavior Checklist may result in over- diagnose, including within the autism spectrum children with other disorders. Therefore, the associated use of both protocols is recommended.
12. Taylor JL, Seltzer MM. {{Developing a Vocational Index for Adults with Autism Spectrum Disorders}}. {J Autism Dev Disord};2012 (Mar 31)
Existing methods of indexing the vocational activities of adults with autism spectrum disorders (ASD) have made significant contributions to research. Nonetheless, they are limited by problems with sensitivity and reliability. We developed an index of vocational and educational outcomes that captures the full range of activities experienced by adults with ASD, and that can be reliably coded across studies using specific decision rules. To develop this index, we used employment, vocational, and educational data collected from nearly 350 adults with ASD at 6 times over 12 years, as part of a larger longitudinal study. The resulting index consists of 11 categories coded on a 9-point scale, ranging from competitive employment and/or postsecondary educational program to no vocational/educational activities.
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13. Tetreault NA, Hakeem AY, Jiang S, Williams BA, Allman E, Wold BJ, Allman JM. {{Microglia in the Cerebral Cortex in Autism}}. {J Autism Dev Disord};2012 (Mar 31)
We immunocytochemically identified microglia in fronto-insular (FI) and visual cortex (VC) in autopsy brains of well-phenotyped subjects with autism and matched controls, and stereologically quantified the microglial densities. Densities were determined blind to phenotype using an optical fractionator probe. In FI, individuals with autism had significantly more microglia compared to controls (p = 0.02). One such subject had a microglial density in FI within the control range and was also an outlier behaviorally with respect to other subjects with autism. In VC, microglial densities were also significantly greater in individuals with autism versus controls (p = 0.0002). Since we observed increased densities of microglia in two functionally and anatomically disparate cortical areas, we suggest that these immune cells are probably denser throughout cerebral cortex in brains of people with autism.
