1. Andrade C. {{Antidepressant use in pregnancy and risk of autism spectrum disorders: a critical examination of the evidence}}. {The Journal of clinical psychiatry}. 2013 Sep;74(9):940-1.
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2. Brent J. {{Commentary on the Abuse of Metal Chelation Therapy in Patients with Autism Spectrum Disorders}}. {Journal of medical toxicology : official journal of the American College of Medical Toxicology}. 2013 Oct 11.
Approximately half a million patients with autism spectrum disorders are subjected to chelation therapy in the US annually. The overwhelming majority of such cases are chelated for non-accepted medical indications. These patients may seek evaluation when a urine sample is assayed after the administration of a chelating agent and the values obtained have been improperly compared to references ranges for non-chelated urines, causing falsely elevated results. Legitimate practitioners confronted with such data must decide, preferably in consultation with the patient or their guardian(s), whether to do further testing using legitimate methodology or to simply dismiss the results of the improper testing. Bayesian principles tell us that further testing is likely to yield results within normal reference ranges. However, under some circumstances, it is useful to do such testing in order to demonstrate that there is no need for chelation therapy. Unnecessary chelation therapy is expensive, can cause significant acute adverse effects, and may be associated with long-term consequences.
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3. Chang YC, Laugeson EA, Gantman A, Ellingsen R, Frankel F, Dillon AR. {{Predicting treatment success in social skills training for adolescents with autism spectrum disorders: The UCLA Program for the Education and Enrichment of Relational Skills}}. {Autism}. 2013 Oct 9.
This study seeks to examine the predictors of positive social skills outcomes from the University of California, Los Angeles Program for the Education and Enrichment of Relational Skills, an evidence-based parent-assisted social skills program for high-functioning middle school and high school adolescents with autism spectrum disorders. The results revealed that adolescents with higher parent-reported baseline social skills and lower self-reported perceived social functioning demonstrated greater improvement in social skills following the intervention.
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4. Crisp S, Meyer E, Gregory A, Archer H, Hayflick S, Kurian MA, de Silva R. {{A RETT-LOOK-ALIKE WITH BRAIN IRON ACCUMULATION}}. {Journal of neurology, neurosurgery, and psychiatry}. 2013 Nov;84(11):e2.
A 31-year old female presented with progressive loss of motor and social skills, on a background of previously static global developmental delay. Her history and examination were consistent with atypical Rett syndrome, but MECP2 sequencing failed to demonstrate a pathogenic mutation. Magnetic resonance imaging (MRI) of brain in adulthood revealed a pattern of iron accumulation in the basal ganglia and cerebral peduncles characteristic of the newly described entity of beta-propeller protein-associated neurodegeneration (BPAN).1-3 Genetic analysis confirmed the presence of a novel mutation in the associated WDR45 gene on the X-chromosome. Video data demonstrating the patient’s phenotype, detailed MRI findings and their discrimination from other forms of brain iron accumulation are presented. Classically, the clinical features of BPAN are global developmental delay in childhood and neurological degeneration in adulthood, with progressive dystonia, parkinsonism and dementia.2 However, our patient presented predominantly with a Rett-like phenotype, features of which may be present in approximately 25% of BPAN cases.2 The proportion of patients with atypical Rett syndrome, particularly those with negative conventional genetic tests, who actually have BPAN remains to be established. Like Rett syndromes, this disorder is more common in females consistent with sensitivity to X-inactivation.1 The phenotypic variability may be attributable to variation in the pattern of inactivation.
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5. Oldenburg AR, Delbarre E, Thiede B, Vigouroux C, Collas P. {{Deregulation of Fragile X-related protein 1 by the lipodystrophic lamin A p.R482 W mutation elicits a myogenic gene expression program in preadipocytes}}. {Human molecular genetics}. 2013 Oct 9.
The nuclear lamina is implicated in the regulation of various nuclear functions. Several laminopathy-causing mutations in the LMNA gene, notably the p.R482 W substitution linked to familial partial lipodystrophy type 2 (FPLD2), are clustered in the immunoglobulin fold of lamin A. We report a functional association between lamin A and Fragile X-related protein 1 (FXR1P), a protein of the Fragile X-related family involved in Fragile X syndrome. Searching for proteins differentially interacting with the immunoglobulin fold of wild-type and R482 W mutant lamin A, we identify FXR1P as a novel component of lamin A protein network. The p.R482 W mutation abrogates interaction of FXR1P with lamin A. Fibroblasts from FPLD2 patients display elevated levels of FXR1P and delocalized FXR1P. In human adipocyte progenitors, deregulation of lamin A expression leads to FXR1P up-regulation, impairment of adipogenic differentiation and induction of myogenin expression. FXR1P overexpression also stimulates a myogenic gene expression program in these cells. Our results demonstrate a cross-talk between proteins hitherto implicated in two distinct mesodermal pathologies. We propose a model where the FPLD2 lamin A p.R482 W mutation elicits, through up-regulation of FXR1P, a remodeling of an adipogenic differentiation program into a myogenic program.
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6. Schmidt C. {{Severe Autism, Often Slighted, Now Targeted for Study}}. {Science (New York, NY)}. 2013 Oct 11;342(6155):179.
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7. Siller M, Reyes N, Hotez E, Hutman T, Sigman M. {{Longitudinal change in the use of services in autism spectrum disorder: Understanding the role of child characteristics, family demographics, and parent cognitions}}. {Autism}. 2013 Oct 9.
The aim of this study was to identify child characteristics, family demographics, and parent cognitions that may affect access to early intervention, special education, and related services. The sample included 70 families of young children with autism spectrum disorders. All parents were enrolled in a short education program, providing them with basic information and resources on advocating for a young child with autism spectrum disorders (Parent Advocacy Coaching). Longitudinal change in children’s intervention program in the community was evaluated over a period of about 27 months, starting 12 months prior to enrollment in Parent Advocacy Coaching. Results revealed large individual differences in the intensity of children’s individual and school-based services. Despite this variability, only two child characteristics (age, gender) emerged as independent predictors. In contrast, the intensity of children’s intervention programs was independently predicted by a broad range of demographic characteristics, including parental education, child ethnicity and race, and family composition. Finally, even after child characteristics and family demographics were statistically controlled, results revealed associations between specific parental cognitions (parenting efficacy, understanding of child development) and the subsequent rate of change in the intensity of children’s intervention programs. Implications for improving educational programs that aim to enhance parent advocacy are discussed.
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8. Siniscalco D, Antonucci N. {{Involvement of Dietary Bioactive Proteins and Peptides in Autism Spectrum Disorders}}. {Current protein & peptide science}. 2013 Oct 4.
Autism and autism spectrum disorders (ASDs) are heterogeneous, severe neurodevelopmental pathologies. These enigmatic conditions have their origins in the interaction of multiple genes and environmental factors. Dysfunctions in social interactions and communication skills, restricted interests, repetitive and stereotypic verbal and non-verbal behaviours are the main core symptoms. Several biochemical processes are associated with ASDs: oxidative stress; endoplasmic reticulum stress; decreased methylation capacity; limited production of glutathione; mitochondrial dysfunction; intestinal impaired permeability and dysbiosis; increased toxic metal burden; immune dysregulation. Current available treatments for ASDs can be divided into behavioural, nutritional and medical approaches, although no defined standard approach exists. Dietary bioactive proteins and peptides show potential for application as health-promoting agents. Nowadays, increasing studies highlight a key role of bioactive proteins and peptides in ASDs. This review will focus on the state-of-the-art regarding the involvement of dietary bioactive proteins and peptides in ASDs. Identification of novel therapeutic targets for ASD management will be also discussed.
9. Yager J, Iarocci G. {{The Development of the Multidimensional Social Competence Scale: A Standardized Measure of Social Competence in Autism Spectrum Disorders}}. {Autism research : official journal of the International Society for Autism Research}. 2013 Sep 23.
Autism and its related disorders are commonly described as lying along a continuum that ranges in severity and are collectively referred to as autism spectrum disorders (ASDs). Although all individuals with ASD meet the social impairment diagnostic criteria outlined in the DSM-IV-TR, they do not present with the same social difficulties. The variability in the expression and severity of social competence is particularly evident among the group of individuals with « high-functioning » ASD who appear to have difficulty applying their average to above average intelligence in a social context. There is a striking paucity of empirical research investigating individual differences in social functioning among individuals with high-functioning ASD. It is possible that more detailed investigations of social competence have been impeded by the lack of standardized measures available to assess the nature and severity of social impairment. The aim of the current study was to develop and evaluate a parent rating scale capable of assessing individual differences in social competence (i.e. strengths and challenges) among adolescents with ASD: the Multidimensional Social Competence Scale (MSCS). Results from confirmatory factor analyses supported the hypothesized multidimensional factor structure of the MSCS. Seven relatively distinct domains of social competence were identified including social motivation, social inferencing, demonstrating empathic concern, social knowledge, verbal conversation skills, nonverbal sending skills, and emotion regulation. Psychometric evidence provided preliminary support for the reliability and validity of the scale. Possible applications of this promising new parent rating scale in both research and clinical settings are discussed. Autism Res 2013, : -. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
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10. Yao B, Lin L, Street RC, Zalewski ZA, Galloway JN, Wu H, Nelson DL, Jin P. {{Genome-wide alteration of 5-hydroxymethylcytosine in a mouse model of fragile X-associated tremor/ataxia syndrome}}. {Human molecular genetics}. 2013 Oct 9.
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder in which patients carry premutation alleles of 55-200 CGG repeats in the FMR1 gene. To date, whether alterations in epigenetic regulation modulate FXTAS has gone unexplored. 5-hydroxymethylcytosine (5hmC) converted from 5-methylcytosine (5mC) by the ten-eleven translocation (TET) family of proteins, has been found recently to play key roles in neuronal functions. Here we undertook genome-wide profiling of cerebellar 5hmC in a FXTAS mouse model (rCGG mice) and found that rCGG mice at 16 weeks showed overall reduced 5hmC levels genome-wide compared to age-matched wild-type littermates. However, we also observed gain-of-5hmC regions in repetitive elements, as well as in cerebellum-specific enhancers, but not in general enhancers. Genomic annotation and motif prediction of wild-type- and rCGG-specific differential 5-hydroxymethylated regions (DhMRs) revealed their high correlation with genes and transcription factors that are important in neuronal developmental and functional pathways. DhMR-associated genes partially overlapped with genes that were differentially associated with ribosomes in CGG mice identified by bacTRAP ribosomal profiling. Taken together, our data strongly indicate a functional role for 5hmC-mediated epigenetic modulation in the etiology of FXTAS, possibly through the regulation of transcription.
