1. Charzewska A, Rzonca S, Janeczko M, Nawara M, Smyk M, Bal J, Hoffman-Zacharska D. {{A duplication of the whole KIAA2022 gene validates the gene role in the pathogenesis of intellectual disability and autism}}. {Clin Genet};2014 (Nov 13)
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2. Dang W, Zhang Q, Zhu YS, Lu XY. {{The Evidence for the Contribution of the Autism Susceptibility Candidate 2 (AUTS2) Gene in Heroin Dependence Susceptibility}}. {J Mol Neurosci};2014 (Nov 15)
The single-nucleotide polymorphisms (SNP) rs6943555 in autism susceptibility candidate 2 (AUTS2) has been reported to be significantly associated with alcohol consumption in Europeans. In this study, we identified the SNP in AUTS2 contributing to the genetic susceptibility to heroin dependence. The potential association between heroin dependence and 21 SNPs (rs2270162, rs2851510, rs513150, rs595681, rs210606, rs10237984, rs13228123, rs10235781, rs6969375, rs6943555, rs10251416, rs17141963, rs12669427, rs723340, rs2293507, rs2293508, rs6960426, rs9886351, rs2293501, rs10277450, rs1918425) of AUTS2 was examined in a Chinese Han population using the MassARRAY system. The participants included 426 patients with heroin dependence and 416 healthy controls. Single SNP association, haplotype association, and clinical phenotype association were analyzed. Single SNP association revealed that AA homozygotes of rs6943555 were significantly over-represented in the patients with heroin dependence compared with the control subjects (P = 0.0019). The patients with heroin dependence had a significantly higher frequency of the A allele (P = 0.0003, odd ratio (OR) = 1.429, 95 % confidence interval (CI) = 1.175-1.738). Strong linkage disequilibrium (LD) was observed in five blocks (D’ > 0.9). In block 2, significantly more A-A haplotypes (P = 0.006 after Bonferroni corrections) and significantly fewer T-A haplotypes (P = 0.040) were found in the patients with heroin dependence. The genotype and clinical phenotype correlation study of the rs6943555 carriers showed that the amount of heroin self-injection was lower in the patients with the AA genotype relative to AT + TT genotypes (P < 0.01). Our results confirmed that, in addition to heroin consumption, the SNP rs6943555 of AUTS2 may also play an important role in the etiology of heroin dependence.
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3. Galloway JN, Shaw C, Yu P, Parghi D, Poidevin M, Jin P, Nelson DL. {{CGG repeats in RNA modulate expression of TDP-43 in mouse and fly models of fragile X tremor ataxia syndrome}}. {Hum Mol Genet};2014 (Nov 15);23(22):5906-5915.
Determining the molecular mechanism(s) leading to Purkinje neuron loss in the neurodegenerative disorder fragile X-associated tremor/ataxia syndrome (FXTAS) is limited by the complex morphology of this cell type. Purkinje neurons are notoriously difficult to isolate and maintain in culture presenting considerable difficultly to identify molecular changes in response to expanded CGG repeat (rCGG)-containing mRNA that induces neurotoxicity in FXTAS. Several studies have uncovered a number of RNA-binding proteins involved in translation that aberrantly interact with the CGG-containing RNA; however, whether these interactions alter the translational profile of cells has not been investigated. Here we employ bacTRAP translational profiling to demonstrate that Purkinje neurons ectopically expressing 90 CGG repeats exhibit a dramatic change in their translational profile even prior to the onset of rCGG-induced phenotypes. This approach identified approximately 500 transcripts that are differentially associated with ribosomes in r(CGG)90-expressing mice. Functional annotation cluster analysis revealed broad ontologies enriched in the r(CGG)90 list, including RNA binding and response to stress. Intriguingly, a transcript for the Tardbp gene, implicated in a number of other neurodegenerative disorders, exhibits altered association with ribosomes in the presence of r(CGG)90 repeats. We therefore tested and showed that reduced association of Tardbp mRNA with the ribosomes results in a loss of TDP-43 protein expression in r(CGG)90-expressing Purkinje neurons. Furthermore, we showed that TDP-43 could modulate the rCGG repeat-mediated toxicity in a Drosophila model that we developed previously. These findings together suggest that translational dysregulation may be an underlying mechanism of rCGG-induced neurotoxicity in FXTAS.
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4. Gillberg C, Gillberg IC, Thompson L, Biskupsto R, Billstedt E. {{Extreme (« pathological ») demand avoidance in autism: a general population study in the Faroe Islands}}. {Eur Child Adolesc Psychiatry};2014 (Nov 15)
Research into Pathological Demand Avoidance (PDA), which has been suggested to be a subgroup within the Autism Spectrum Disorder (ASD), is almost nonexistent in spite of the frequent reference to the condition in clinical practice. The total population of 15 to 24-year-olds in the Faroe Islands was screened for ASD, and 67 individuals were identified who met diagnostic criteria for ASD (corresponding to a general population prevalence of ASD of almost 1 %). Of these 67, 50 had parents who were interviewed using the Diagnostic Interview for Social and Communication Disorders (DISCO-11) which contains 15 « PDA-specific » items. Nine individuals met criteria for « possible clinical diagnosis of PDA », meaning that almost one in five of all with ASD also had indications of having had PDA in childhood, and that 0.18 % of the total population had had the combination of ASD and PDA. However, at the time of assessment, only one of the 9 individuals with possible PDA still met « full criteria ». PDA possibly constitutes a considerable minority of all cases with ASD diagnosed in childhood, but criteria for the condition are unlikely to be still met in later adolescence and early adult life.
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5. Goin-Kochel RP, Mire SS, Dempsey AG. {{Emergence of Autism Spectrum Disorder in Children from Simplex Families: Relations to Parental Perceptions of Etiology}}. {J Autism Dev Disord};2014 (Nov 15)
Current research describes a four-category scheme of Autism Spectrum Disorder (ASD) onset: early, regressive, plateau, delay + regression. To replicate prevalence of different onset types, ASD onset (per the Autism Diagnostic Interview-Revised) was examined in a large North American sample; for a subset, parents’ causal beliefs were ascertained via the Revised Illness Perception Questionnaire to examine potential associations with ASD-onset types. Onset rates were similar across samples, with a slightly higher proportion of children in the subsample categorized with regression. Top-rated causes of ASD were genetics, brain structure, will of God, toxins in vaccines, and environmental pollution. Parents reporting regression more often believed that toxins in vaccines caused ASD. Influences on treatment selection and broader public-health ramifications are discussed.
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6. Jayarao M, Sohl K, Tanaka T. {{Chiari malformation I and autism spectrum disorder: an underrecognized coexistence}}. {J Neurosurg Pediatr};2014 (Nov 14):1-5.
OBJECT Patients with symptomatic Chiari malformation Type I (CM-I) frequently present with headaches, neck pain, difficulty swallowing, and balance disturbances. In children with autism spectrum disorder (ASD), diagnosing CM-I can be a challenging task. Moreover, even if symptomatic, some patients do not undergo further evaluation or management, as their presentations are attributed to autism and its myriad symptoms. Therefore, cranial MRI findings were reviewed after evaluating and treating patients with coexisting ASD and CM-I. In this paper, the authors report on 5 children with ASD and symptomatic CM-I, including their clinical presentation, imaging studies, management, and outcomes, and discuss the likely underrecognized coexistence of these conditions. METHODS All pediatric patients with ASD and cranial MRI conducted for any reason in the period from 1999 to 2013 were considered for analysis. All cases with concomitant symptomatic CM-I were eligible for this retrospective analysis. RESULTS One hundred twenty-five pediatric patients diagnosed with ASD had undergone MRI, and 9 of them had evidence of cerebellar tonsillar herniation. Five patients were symptomatic and underwent suboccipital craniectomy, a C-1 or a C-1 and C-2 laminectomy, and duraplasty with bovine pericardium or Type I collagen allograft. There were no intraoperative complications. All patients showed symptom improvement and/or resolution of presenting symptoms, which included headache, dysphasia, speech, and irritability. CONCLUSIONS There is no identified cause of autism. Children with ASD can be difficult to assess specifically in a neurological examination. Thus, cranial MRI considered when completing a comprehensive diagnostic evaluation. While cranial MRI is not a routine part of ASD evaluation, this study demonstrates that CM-I and ASD may coexist and be underrecognized. The study reinforces the importance of a comprehensive medical evaluation designed to elucidate neurological findings in children with impaired communication abilities and suggests the judicious use of neuroimaging.
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7. Minshawi NF, Hurwitz S, Morriss D, McDougle CJ. {{Multidisciplinary Assessment and Treatment of Self-Injurious Behavior in Autism Spectrum Disorder and Intellectual Disability: Integration of Psychological and Biological Theory and Approach}}. {J Autism Dev Disord};2014 (Nov 14)
The objective of this review is to consider the psychological (largely behavioral) and biological [neurochemical, medical (including genetic), and pharmacological] theories and approaches that contribute to current thinking about the etiology and treatment of self-injurious behavior (SIB) in individuals with autism spectrum disorder and/or intellectual disability. Algorithms for the assessment and treatment of SIB in this context, respectively, from a multidisciplinary, integrative perspective are proposed and challenges and opportunities that exist in clinical and research settings are discussed.
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8. Pugliese CE, Anthony L, Strang JF, Dudley K, Wallace GL, Kenworthy L. {{Increasing Adaptive Behavior Skill Deficits From Childhood to Adolescence in Autism Spectrum Disorder: Role of Executive Function}}. {J Autism Dev Disord};2014 (Nov 15)
Almost half of all children with autism spectrum disorder have average cognitive abilities, yet outcome remains poor. Because outcome in HFASD is more related to adaptive behavior skills than cognitive level it is important to identify predictors of adaptive behavior. This study examines cognitive and demographic factors related to adaptive behavior, with specific attention to the role of executive function (EF) in youth with HFASD aged 4-23. There was a negative relationship between age and adaptive behavior and the discrepancy between IQ and adaptive behavior increased with age. EF problems contributed to lower adaptive behavior scores across domains. As such, it is important to target adaptive skills, and the EF problems that may contribute to them, in youth with HFASD.
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9. Shiozawa BJ. {{It’s About Time for Autism Reform Legislation in Utah}}. {J Autism Dev Disord};2014 (Nov 14)
On 3 April 2014, Governor Gary Herbert signed into law a health insurance reform bill that requires private insurers to cover autism therapy. Specifically, SB57 requires state-regulated health plans to cover applied behavior analysis (ABA) therapy. While early diagnosis and intervention can reduce the long-term cost of autism, families are finding themselves bankrupt in order to pay for ABA therapy. Currently, 37 states, and the District of Columbia have enacted insurance reform laws. Ensuring that children with autism receive proper therapy is a serious public health issue. Utah was right to pass reform legislation because it properly benefits and safeguards the interests of affected children in promoting their well-being and participation in society.
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10. Wright K, Kelley E, Poulin-Dubois D. {{Schematic and realistic biological motion identification in children with high-functioning autism spectrum disorder}}. {Res Autism Spectr Disord};2014 (Oct 1);8(10):1394-1404.
Research investigating biological motion perception in children with ASD has revealed conflicting findings concerning whether impairments in biological motion perception exist. The current study investigated how children with high-functioning ASD (HF-ASD) performed on two tasks of biological motion identification: a novel schematic motion identification task and a point-light biological motion identification task. Twenty-two HFASD children were matched with 21 TD children on gender, non-verbal mental, and chronological, age (M years = 6.72). On both tasks, HF-ASD children performed with similar accuracy as TD children. Across groups, children performed better on animate than on inanimate trials of both tasks. These findings suggest that HF-ASD children’s identification of both realistic and schematic biological motion identification is unimpaired.
