1. Bekhet AK. {{Positive Thinking Training Intervention for Caregivers of Persons with Autism: Establishing Fidelity}}. {Arch Psychiatr Nurs};2017 (Jun);31(3):306-310.
More than 3.5 million in the US are diagnosed with autism spectrum disorder (ASD) and caregivers experience stress that adversely affects their well-being. Positive thinking training (PTT) intervention can minimize that stress. However, before testing the effectiveness of PTT, its fidelity must be established. This pilot intervention trial examined fidelity of an online PTT intervention for ASD caregivers with a random assignment of 73 caregivers to either the online PTT intervention or to the control group. Quantitative data [Positive Thinking Skills Scale (PTSS)] and qualitative data (online weekly homework) were collected. The mean scores for the PTSS improved for the intervention group and decreased for the control group post intervention. Evidence for use of PTT was found in caregivers’ online weekly homework. The findings provide evidence of the implementation fidelity of PTT intervention and support moving forward to test PTT effectiveness in promoting caregivers’ well-being.
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2. Crespi BJ, Procyshyn TL. {{Williams syndrome deletions and duplications: Genetic windows to understanding anxiety, sociality, autism, and schizophrenia}}. {Neurosci Biobehav Rev};2017 (May 10);79:14-26.
We describe and evaluate an integrative hypothesis for helping to explain the major neurocognitive features of individuals with Williams syndrome region deletions and duplications. First, we demonstrate how the cognitive differences between Williams syndrome individuals, individuals with duplications of this region, and healthy individuals parallel the differences between individuals subject to effects of increased or decreased oxytocin. Second, we synthesize evidence showing that variation in expression of the gene GTF2I (General Transcription Factor II-I) underlies the primary social phenotypes of Williams syndrome and that common genetic variation in GTF2I mediates oxytocin reactivity, and its correlates, in healthy populations. Third, we describe findings relevant to the hypothesis that the GTF2I gene is subject to parent of origin effects whose behavioral expression fits with predictions from the kinship theory of genomic imprinting. Fourth, we describe how Williams syndrome can be considered, in part, as an autistic syndrome of Lorna Wing’s ‘active-but-odd’ autism subtype, in contrast to associations of duplications with both schizophrenia and autism.
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3. Dou Y, Yang X, Li Z, Wang S, Zhang Z, Ye AY, Yan L, Yang C, Wu Q, Li J, Zhao B, Huang AY, Wei L. {{Post-zygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations}}. {Hum Mutat};2017 (May 14)
The roles and characteristics of post-zygotic single-nucleotide mosaicisms (pSNMs) in autism spectrum disorders (ASD) remain unclear. In this study of the whole-exomes of 2,321 families in the Simons Simplex Collection (SSC), we identified 1,248 putative pSNMs in children and 285 de novo SNPs in children with detectable parental mosaicism. Ultra-deep amplicon resequencing suggested a validation rate of 51%. Analyses of validated pSNMs revealed that missense/loss-of-function (LoF) pSNMs with a high mutant allele fraction (MAF> = 0.2) contributed to ASD diagnoses (P = 0.022, OR = 5.25), whereas missense/LoF pSNMs with a low MAF (MAF<0.2) contributed to autistic traits in male non-ASD siblings (P = 0.033). LoF pSNMs in parents were less likely to be transmitted to offspring than neutral pSNMs (P = 0.037), and missense/LoF pSNMs in parents with a low MAF were transmitted more to probands than to siblings (P = 0.016, OR = 1.45). We estimated that pSNMs in probands or de novo mutations inherited from parental pSNMs increased the risk of ASD by approximately 6%. Adding pSNMs into the Transmission and De novo Association test (TADA) model revealed 13 new ASD risk genes. These results expand the existing repertoire of genes involved in ASD and shed new light on the contribution of genomic mosaicisms to ASD diagnoses and autistic traits. This article is protected by copyright. All rights reserved. Lien vers le texte intégral (Open Access ou abonnement)
4. Guzik G. {{Early developed ASD (adjacent segmental disease) in patients after surgical treatment of the spine due to cancer metastases}}. {J Orthop Surg Res};2017 (May 12);12(1):70.
BACKGROUND: The causes of ASD are still relatively unknown. Correlation between clinical status of patients and radiological MRI findings is of primary importance. The radiological classifications proposed by Pfirmann and Oner are most commonly used to assess intradiscal degenerative changes. The aim of the study was to assess the influence of the extension of spine fixation on the risk of developing ASD in a short time after surgery. METHODS: A total of 332 patients with spinal tumors were treated in our hospital between 2010 and 2013. Of these patients, 287 underwent surgeries. A follow-up MRI examination was performed 12 months after surgical treatment. The study population comprised of 194 patients. Among metastases, breast cancer was predominant (29%); neurological deficits were detected in 76 patients. Metastases were seen in the thoracic (45%) and lumbar (30%) spine; in 25% of cases, they were of multisegmental character. Pathological fractures concerned 88% of the patients. Statistical calculations were made using the chi2 test. Statistical analysis was done using the Statistica v. 10 software. A p value <0.05 was accepted as statistically significant. The study population was divided on seven groups according to applied treatment. RESULTS: Clinical signs of ASD were noted in only seven patients. Two patients had symptoms of nerve root irritation in the lumbar spine. Twenty-two patients (11%) were diagnosed with ASD according to the MRI classifications by Oner, Rijt, and Ramos, while the more sensitive Pfirmann classification allowed to detect the disease in 46 patients (24%). Healthy or almost healthy discs of Oner type I correlated with the criteria of Pfirmann types II and III. The percentage of the incidence of ASD diagnosed 1 year after the surgery using the Pfirmann classifications was significantly higher than diagnosed according to the clinical examination. CONCLUSIONS: The incidence of ASD in patients after spine surgeries due to cancer metastases does not differ between the study groups. ASD detectability based on clinical signs is significantly lower than ASD detectability based on MR images according to the system by Pfirrmann et.al. ASD risk increase among patients with multilevel fixation. Lien vers le texte intégral (Open Access ou abonnement)
5. Hood SA, Luczynski KC, Mitteer DR. {{Toward meaningful outcomes in teaching conversation and greeting skills with individuals with autism spectrum disorder}}. {J Appl Behav Anal};2017 (May 13)
We identified greeting and conversation deficits based on a parent interview and semistructured direct assessment for one child and two adolescents with autism spectrum disorder. We taught the greeting and conversation skills using behavioral skills training and within-session corrective feedback. A multiple baseline across conversation and greeting skills demonstrated experimental control over the effects of the teaching on acquisition and generalization to novel adults. We also conducted embedded reversals to assess maintenance of the acquired skills. Teaching produced robust acquisition, generalization, maintenance, and treatment extension for 15 of the 16 targeted skills across participants. Participant and parent reports indicated high levels of social validity for the intervention and outcomes. The results support individualized assessment and intervention for improving greeting and conversation skills during unscripted interactions, which are requisite for more extended and complex social interactions.
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6. Murata E, Mohri I, Kato-Nishimura K, Iimura J, Ogawa M, Tachibana M, Ohno Y, Taniike M. {{Evaluation of behavioral change after adenotonsillectomy for obstructive sleep apnea in children with autism spectrum disorder}}. {Res Dev Disabil};2017 (Jun);65:127-139.
BACKGROUND AND OBJECTIVE: Obstructive sleep apnea (OSA) may affect daily cognitive functioning in children. The aims of our study were two-fold. The first aim was to detect, using the Child Behavior Checklist (CBCL), whether adenotonsillectomy (AT) for the treatment of OSA improved the behavior of children with autism spectrum disorder (ASD). The second aim was to identify characteristics for behavioral improvement following the treatment of OSA in these children with ASD. METHODS: The behaviors of ASD children aged 5-14 years diagnosed as having OSA (n=30) were evaluated using CBCL before and after AT. CBCL evaluation of ASD children without OSA at two time points with the same interval served as a control (n=24). We statistically examined the two groups. In addition, we conducted a paired t-test to assess changes in CBCL Tscores between the improved group and unchanged/deteriorated group to identify characteristics that may affect behavioral changes following OSA treatment. RESULTS: After AT, T-scores of the CBCL scales were significantly improved in the OSA group, but no change was observed in the control. A paired t-test revealed that the improved group had significantly higher scores on the CBCL pre-AT than the unchanged/deteriorated group in ASD children with OSA after OSA treatment. CONCLUSIONS: Behavioral problems were significantly improved following AT in ASD children with OSA. Early detection and treatment of children with OSA is essential to prevent behavioral problems and to support mental development.
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7. Sungur AO, Jochner MCE, Harb H, Kilic A, Garn H, Schwarting RKW, Wohr M. {{Aberrant cognitive phenotypes and altered hippocampal BDNF expression related to epigenetic modifications in mice lacking the post-synaptic scaffolding protein SHANK1: Implications for autism spectrum disorder}}. {Hippocampus};2017 (May 12)
Autism spectrum disorder (ASD) is a class of neurodevelopmental disorders characterized by persistent deficits in social communication/interaction, together with restricted/repetitive patterns of behavior. ASD is among the most heritable neuropsychiatric conditions, and while available evidence points to a complex set of genetic factors, the SHANK gene family has emerged as one of the most promising candidates. Here, we assessed ASD-related phenotypes with particular emphasis on social behavior and cognition in Shank1 mouse mutants in comparison to heterozygous and wildtype littermate controls across development in both sexes. While social approach behavior was evident in all experimental conditions and social recognition was only mildly affected by genotype, Shank1-/- null mutant mice were severely impaired in object recognition memory. This effect was particularly prominent in juveniles, not due to impairments in object discrimination, and replicated in independent mouse cohorts. At the neurobiological level, object recognition deficits were paralleled by increased brain-derived neurotrophic factor (BDNF) protein expression in the hippocampus of Shank1-/- mice; yet BDNF levels did not differ under baseline conditions. We therefore investigated changes in the epigenetic regulation of hippocampal BDNF expression and detected an enrichment of histone H3 acetylation at the Bdnf promoter1 in Shank1-/- mice, consistent with increased learning-associated BDNF. Together, our findings indicate that Shank1 deletions lead to an aberrant cognitive phenotype characterized by severe impairments in object recognition memory and increased hippocampal BDNF levels, possibly due to epigenetic modifications. This result supports the link between ASD and intellectual disability, and suggests epigenetic regulation as a potential therapeutic target. This article is protected by copyright. All rights reserved.
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8. Yenkoyan K, Grigoryan A, Fereshetyan K, Yepremyan D. {{Advances in Understanding the Pathophysiology of Autism Spectrum Disorders}}. {Behav Brain Res};2017 (May 09)
Autism spectrum disorders (ASD) are common heterogeneous neurodevelopmental disorders with typical triad of symptoms: impaired social interaction, language and communication abnormalities, and stereotypical behavior. Despite extensive research, the etiology and pathogenesis of ASD remain largely unclear. The lack of solid knowledge on the mechanisms of these disorders decreases the opportunities for pathogenetic treatment of autism. Various theories where proposed in order to explain the pathophysiology underlying ASD. Despite the fact that none of them is able to completely explain the impairments in the nervous system of ASD patients, these hypotheses were instrumental in highlighting the most important mechanisms in the development of this complex disorder. Some new theories are based on neurovisualization studies, others on the data from genomic studies, which become increasingly available worldwide. As the research in this field is largely dependent on the animal models, there is an ongoing discussion and search for the most appropriate one adequately reproducing the pathology. Here we provide an overview of current theories of the origin and development of ASD discussed in the context of existing and proposed rodent models of ASD.
