1. Ahumada JL. {{Is the nature of psychoanalytic thinking and practice (e.g., in regard to sexuality) determined by extra-analytic, social and cultural developments?: Insight under siege: Psychoanalysis in the ‘Autistoid Age’}}. {Int J Psychoanal};2016 (Jun);97(3):839-851.
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2. Boshoff K, Gibbs D, Phillips RL, Wiles L, Porter L. {{Parents’ voices: ‘why and how we advocate’. A meta-synthesis of parents’ experiences of advocating for their child with autism spectrum disorder}}. {Child Care Health Dev};2016 (Jul 22)
Parenting a child with autism spectrum disorder (ASD) can be stressful, and accessing services can add to this stress. Self-efficacy, agency and advocacy are important for parents when accessing and using services. To develop insight into parental advocacy, a meta-synthesis was undertaken to consolidate the literature focussing on parents’ experiences of advocating for their child with ASD. A qualitative meta-synthesis was conducted. Fifteen databases were systematically searched by using key terms related to ASD, children, parents/carers, advocacy and qualitative studies. Twenty-four studies were identified and appraised using an adapted version of the Critical Appraisal Skills Programme tool. Data were synthesized into themes through the steps of review, meta-aggregation, integration and interpretation. Two overarching concepts emerged, illustrating both the challenging nature of advocacy and the associated personal and societal benefits. These two concepts are supported by eight themes: a life-long, all-encompassing challenge; advocacy as a parental coping strategy; advocacy involving working to create a future; balancing roles and needs; isolation versus support; personal impacts of advocacy; benefits of advocacy; and the barriers to advocacy. The experience of advocacy for parents with a child with ASD is complex and intensive, presenting both personal and societal benefits, as well as challenges for parents. In supporting individuals with ASD and family well-being, service providers need to have an understanding of the advocating role of parents and ensure that opportunities exist for their voices to be heard during service delivery.
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3. Dawkins T, Meyer AT, Van Bourgondien ME. {{The Relationship Between the Childhood Autism Rating Scale: Second Edition and Clinical Diagnosis Utilizing the DSM-IV-TR and the DSM-5}}. {J Autism Dev Disord};2016 (Jul 15)
The Childhood Autism Rating Scale, Second Edition (CARS2; 2010) includes two rating scales; the CARS2-Standard Version (CARS2-ST) and the newly developed CARS2-High Functioning Version (CARS2-HF). To assess the diagnostic agreement between the CARS2 and DSM-IV-TR versus DSM-5 criteria for Autism Spectrum Disorder (ASD), clinicians at community based centers of the University of North Carolina TEACCH Autism Program rated participants seen for a diagnostic evaluation on symptoms of autism using both the DSM-IV-TR and DSM-5 criteria and either the CARS2-HF or the CARS2-ST. Findings suggest that overall, the diagnostic agreement of the CARS2 remains high across DSM-IV and DSM-5 criteria for autism.
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4. Dickinson A, Jones M, Milne E. {{Measuring neural excitation and inhibition in autism: different approaches, different findings and different interpretations}}. {Brain Res};2016 (Jul 12)
The balance of neural excitation and inhibition (E/I balance) is often hypothesised to be altered in autism spectrum disorder (ASD). One widely held view is that excitation levels are elevated relative to inhibition in ASD. Understanding whether, and how, E/I balance may be altered in ASD is important given the recent interest in trialling pharmacological interventions for ASD which target inhibitory neurotransmitter function. Here we provide a critical review of evidence for E/I balance in ASD. We conclude that data from a number of domains provides support for alteration in excitation and inhibitory neurotransmission in ASD, but when considered collectively, the available literature provide little evidence to support claims for either a net increase in excitation or a net increase in inhibition. Strengths and limitations of available techniques are considered, and directions for future research discussed.
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5. Dillenburger K, McKerr L, Jordan JA, Keenan M. {{Staff Training in Autism: The One-Eyed Wo/Man}}. {Int J Environ Res Public Health};2016;13(7)
Having well-trained staff is key to ensuring good quality autism services, especially since people affected with autism generally tend to have higher support needs than other populations in terms of daily living, as well as their mental and physical health. Poorly-trained staff can have detrimental effects on service provision and staff morale and can lead to staff burn-out, as well as increased service user anxiety and stress. This paper reports on a survey with health, social care, and education staff who work within the statutory autism services sector in the UK that explored their knowledge and training with regards to autism. Interview data obtained from staff and service users offer qualitative illustrations of survey findings. Overall, the findings expose an acute lack of autism-specific training that has detrimental impacts. At best, this training was based on brief and very basic awareness raising rather than on in-depth understanding of issues related to autism or skills for evidence-based practice. Service users were concerned with the effects that the lack of staff training had on the services they received. The paper concludes with a discussion of policy routes to achieving quality staff training based on international best practice. The focus is on improving the quality of life and mental health for services users and staff, as well as making potentially significant cost-savings for governments.
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6. Fasano A, Sammartino F, Llinas M, Lozano AM. {{MRI-guided focused ultrasound thalamotomy in fragile X-associated tremor/ataxia syndrome}}. {Neurology};2016 (Jul 20)
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7. Hong ER, Ganz JB, Mason R, Morin K, Davis JL, Ninci J, Neely LC, Boles MB, Gilliland WD. {{The effects of video modeling in teaching functional living skills to persons with ASD: A meta-analysis of single-case studies}}. {Res Dev Disabil};2016 (Jul 18);57:158-169.
BACKGROUND: Many individuals with autism spectrum disorders (ASD) show deficits in functional living skills, leading to low independence, limited community involvement, and poor quality of life. With development of mobile devices, utilizing video modeling has become more feasible for educators to promote functional living skills of individuals with ASD. AIMS: This article aims to review the single-case experimental literature and aggregate results across studies involving the use of video modeling to improve functional living skills of individuals with ASD. METHODS AND PROCEDURES: The authors extracted data from single-case experimental studies and evaluated them using the Tau-U effect size measure. Effects were also differentiated by categories of potential moderators and other variables, including age of participants, concomitant diagnoses, types of video modeling, and outcome measures. OUTCOMES AND RESULTS: Results indicate that video modeling interventions are overall moderately effective with this population and dependent measures. While significant differences were not found between categories of moderators and other variables, effects were found to be at least moderate for most of them. CONCLUSIONS AND IMPLICATIONS: It is apparent that more single-case experiments are needed in this area, particularly with preschool and secondary-school aged participants, participants with ASD-only and those with high-functioning ASD, and for video modeling interventions addressing community access skills.
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8. Jeste SS, Varcin KJ, Hellemann GS, Gulsrud AC, Bhatt R, Kasari C, Wu JY, Sahin M, Nelson CA, 3rd. {{Symptom profiles of autism spectrum disorder in tuberous sclerosis complex}}. {Neurology};2016 (Jul 20)
OBJECTIVE: To determine the extent to which deficits associated with autism spectrum disorder (ASD) in toddlers with tuberous sclerosis complex (TSC) overlap with those in toddlers with nonsyndromic ASD (nsASD) and to examine cognitive function and epilepsy severity in toddlers with TSC and comorbid ASD. This is the endpoint analysis from a longitudinal investigation of ASD risk factors in children with TSC. METHODS: Measures included the Autism Diagnostic Observation Schedule (ADOS), the Mullen Scales of Early Learning, and clinical epilepsy variables. A repeated-measures analysis of variance was performed with between-subjects factor of group (typically developing, TSC/no ASD, TSC/ASD, nsASD) and within-subjects factors of individual ADOS item scores in the social communication and repetitive behavior/restricted interest domains. Within the TSC group, comparisons of epilepsy characteristics and cognitive domains were performed using independent-samples t tests. RESULTS: Children with TSC/ASD demonstrated a profile of social communication impairment that had complete convergence with nsASD. Measured social communication impairments included gestures, pointing, eye contact, responsive social smile, and shared enjoyment. This convergence was observed despite the high comorbidity between ASD and cognitive impairment in TSC. CONCLUSIONS: This study supports the clinical diagnosis of ASD in young children with TSC and demonstrates remarkable convergence of autism symptoms between TSC/ASD and nsASD. Our results strongly suggest the need for early intervention in toddlers with TSC, with treatment strategies targeting social communication function as well as broader developmental domains, before the onset of autism symptoms.
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9. Lane JD, Shepley C, Lieberman-Betz R. {{Promoting Expressive Language in Young Children with or At-Risk for Autism Spectrum Disorder in a Preschool Classroom}}. {J Autism Dev Disord};2016 (Jul 15)
Young children with autism spectrum disorder (ASD) often demonstrate delays in expressive communication, impacting their ability to independently function in typical environments. Individuals with ASD who develop expressive language during early childhood experience better outcomes later in life; therefore, examination of naturalistic language interventions (NLIs) remain an important area of investigation. The current study used a multiple probe design across participants to examine the effects of a classroom-based NLI on various expressive language targets in three preschool-aged children demonstrating characteristics of ASD. Findings suggest the intervention had positive and maintained effects on trial-based use of language targets, as well as concomitant changes in commenting, requesting, and phrase complexity. Implications regarding implementation of NLIs within typical classroom play activities are discussed.
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10. Li M, Zhao H, Ananiev GE, Musser M, Ness KH, Maglaque DL, Saha K, Bhattacharyya A, Zhao X. {{Establishment of reporter lines for detecting fragile X mental retardation (FMR1) gene reactivation in human neural cells}}. {Stem Cells};2016 (Jul 16)
Human patient-derived induced pluripotent stem cells (hiPSCs) provide unique opportunities for disease modeling and drug development. However, adapting hiPSCs or their differentiated progenies to high throughput assays for phenotyping or drug screening has been challenging. Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and a major genetic cause of autism. FXS is caused by mutational trinucleotide expansion in the FMR1 gene leading to hypermethylation and gene silencing. One potential therapeutic strategy is to reactivate the silenced FMR1 gene, which has been attempted using both candidate chemicals and cell-based screening. However, molecules that effectively reactivate the silenced FMR1 gene are yet to be identified; therefore, a high throughput unbiased screen is needed. Here we demonstrate the creation of a robust FMR1-Nluc reporter hiPSC line by knocking in a Nano luciferase (Nluc) gene into the endogenous human FMR1 gene using the CRISPR/Cas9 genome editing method. We confirmed that luciferase activities faithfully report FMR1 gene expression levels and showed that neural progenitor cells derived from this line could be optimized for high throughput screening. The FMR1-Nluc reporter line is a good resource for drug screening as well as for testing potential genetic reactivation strategies. In addition, our data provide valuable information for the generation of knock-in human iPSC reporter lines for disease modeling, drug screening, and mechanistic studies. This article is protected by copyright. All rights reserved.
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11. Luxford S, Hadwin JA, Kovshoff H. {{Evaluating the Effectiveness of a School-Based Cognitive Behavioural Therapy Intervention for Anxiety in Adolescents Diagnosed with Autism Spectrum Disorder}}. {J Autism Dev Disord};2016 (Jul 20)
This study evaluated the effectiveness of a school-based Cognitive Behavioural Therapy (CBT) on symptoms of anxiety, social worry and social responsiveness, and indices of attentional control and attentional biases to threat in adolescents diagnosed with Autism Spectrum Disorder. Thirty-five young people (11-14 years; IQ > 70) with ASD and elevated teacher or parent reported anxiety were randomly assigned to 6 sessions of the Exploring Feelings CBT intervention (Attwood in Exploring feelings (anxiety). Future Horizons, Arlington, 2004) (n = 18) or a wait-list control group (n = 17). The intervention (compared to the wait-list control) group showed positive change for parent, teacher and self-reported anxiety symptoms, and more marginal effects of increased teacher-reported social responsiveness. The discussion highlights the potential value and limitations of school-based CBT for young people with ASD.
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12. Patak J, Hess JL, Zhang-James Y, Glatt SJ, Faraone SV. {{SLC9A9 Co-expression modules in autism-associated brain regions}}. {Autism Res};2016 (Jul 21)
SLC9A9 is a sodium hydrogen exchanger present in the recycling endosome and highly expressed in the brain. It is implicated in neuropsychiatric disorders, including autism spectrum disorders (ASDs). Little research concerning its gene expression patterns and biological pathways has been conducted. We sought to investigate its possible biological roles in autism-associated brain regions throughout development. We conducted a weighted gene co-expression network analysis on RNA-seq data downloaded from Brainspan. We compared prenatal and postnatal gene expression networks for three ASD-associated brain regions known to have high SLC9A9 gene expression. We also performed an ASD-associated single nucleotide polymorphism enrichment analysis and a cell signature enrichment analysis. The modules showed differences in gene constituents (membership), gene number, and connectivity throughout time. SLC9A9 was highly associated with immune system functions, metabolism, apoptosis, endocytosis, and signaling cascades. Gene list comparison with co-immunoprecipitation data was significant for multiple modules. We found a disproportionately high autism risk signal among genes constituting the prenatal hippocampal module. The modules were enriched with astrocyte and oligodendrocyte markers. SLC9A9 is potentially involved in the pathophysiology of ASDs. Our investigation confirmed proposed functions for SLC9A9, such as endocytosis and immune regulation, while also revealing potential roles in mTOR signaling and cell survival.. By providing a concise molecular map and interactions, evidence of cell type and implicated brain regions we hope this will guide future research on SLC9A9. Autism Res 2016. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
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13. Pierce K, Courchesne E, Bacon E. {{To Screen or Not to Screen Universally for Autism is not the Question: Why the Task Force Got It Wrong}}. {J Pediatr};2016 (Jul 12)
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14. Scorza FA, Andersen ML, Cysneiros RM. {{Echoes of the association between autism and epilepsy: A long translational research explanation}}. {Epilepsy Behav};2016 (Jul 18);62:12-13.
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15. Stembalska A, Laczmanska I, Gil J, Pesz KA. {{Fragile X syndrome in females – a familial case report and review of the literature}}. {Dev Period Med};2016;20(2):99-104.
BACKGROUND: Fragile X syndrome (FXS), one of the manifestations of FMR1-related disorders, is one of the most frequent genetic causes of intellectual disability. In over 99% of all cases it results from the expansion of CGG repeats in the 5′-untranslated region of the FMR1 gene and presents in males and in about 50% of the females with an FMR1 full mutation, usually with a milder phenotype. OBJECTIVE: Although the morphologic and behavioral phenotype in males is a well-recognized entity, the presentation in females is variable and not as specific. The objective of this paper is to present a family with quite a severe expression of the disorder in two sisters with a full mutation. METHODS: We report on a two-generation family where both males and females were found to be affected by FXS. We also present the diagnostic pathway and methods that led to the diagnosis of fragile X syndrome in the two sisters, as well as the method that explained the normal phenotype in their mother. RESULTS: The CGG repeats analysis in the FMR1 gene showed one normal allele and one allele with a full mutation in both sisters (probands) and their mother. A full mutation was also found in three male cousins of the probands. The analysis of the X-chromosome methylation status has shown a random X inactivation in proband 1 and 2 and a non-random one in the proband’s mother, with the normal allele predominantly active. CONCLUSION: The reasons for different clinical presentations are discussed; moreover a review of the literature on females with FXS is presented. We hope that this paper will facilitate the future diagnosis of fragile X syndromes in females.
