1. Aabbassi B, Benali A, Asri F. {{Risperidone-induced priapism in an autistic child: a case report}}. {J Med Case Rep};2016;10:164.
BACKGROUND: Priapism is a prolonged stimulation with painful, persistent penile erection unaccompanied by sexual desire. It is a rare but serious urological emergency. Risperidone is an atypical antipsychotic widely prescribed for the treatment of behavior problems in children with autism spectrum disorder. It seems associated with priapism in children. CASE PRESENTATION: We present a case of a 12-year-old Moroccan boy diagnosed with autism spectrum disorder who developed priapism while on an existing regimen of risperidone, and we report the treatment decisions that followed. CONCLUSIONS: Clinicians who prescribe risperidone should be aware of the possibility of this rare complication in their patients. Information about this possible side effect and instructions regarding appropriate response should be made available to caregivers of those in the at-risk group of young patients.
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2. Begeer S, Bernstein DM, Assfalg A, Azdad H, Glasbergen T, Wierda M, Koot HM. {{Reprint of: Equal egocentric bias in school-aged children with and without autism spectrum disorders}}. {J Exp Child Psychol};2016 (Jun 1)
Egocentric bias is a core feature of autism. This phenomenon has been studied using the false belief task. However, typically developing children who pass categorical (pass or fail) false belief tasks may still show subtle egocentric bias. We examined 7- to 13-year-old children with autism spectrum disorder (ASD; n=76) or typical development (n=113) using tasks with a continuous response scale: a modified false belief task and a visual hindsight bias task. All children showed robust egocentric bias on both tasks, but no group effects were found. Our large sample size, coupled with our sensitive tasks and resoundingly null group effects, indicate that children with and without ASD possess more similar egocentric tendencies than previously reported.
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3. Belagodu AP, Zendeli L, Slater BJ, Galvez R. {{Blocking elevated VEGF-A attenuates non-vasculature Fragile X Syndrome abnormalities}}. {Dev Neurobiol};2016 (Jun 6)
Fragile X syndrome (FXS) is the most common form of inherited mental retardation. In exploring abnormalities associated with the syndrome, we have recently demonstrated abnormal vascular density in a FXS mouse model (Galvan and Galvez, 2012). One of the most prominent regulators of vascular growth is VEGF-A (Vascular Endothelial Growth Factor A), suggesting that FXS is associated with abnormal VEGF-A expression. In addition to its role in vascular regulation, VEGF-A also induces cellular changes such as increasing cell proliferation, and axonal and neurite outgrowth independent of its effects on vasculature. These VEGF-A induced cellular changes are consistent with FXS abnormalities such as increased axonal material, dendritic spine density, and cell proliferation. In support of these findings, the following study demonstrated that FXS mice exhibit increased expression of VEGF-A in brain. These studies suggest that increased VEGF-A expression in FXS is contributing to non-vascular FXS abnormalities. To explore the role of VEGF-A in mediating non-vascular FXS abnormalities, the monoclonal antibody Bevacizumab was used to block free VEGF-A. Bevacizumab treatment was found to decrease FXS Synapsin-1 expression, a presynaptic marker for synapse density, and reduce FXS testicle weight to control levels. Blocking VEGF-A also alleviated FXS abnormalities on novel object recognition, a test of cognitive performance. These findings demonstrate that VEGF-A is elevated in FXS brain and suggest that its expression promotes non-vascular FXS abnormalities. This article is protected by copyright. All rights reserved.
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4. Lin P, Nicholls L, Assareh H, Fang Z, Amos TG, Edwards RJ, Assareh AA, Voineagu I. {{Transcriptome analysis of human brain tissue identifies reduced expression of complement complex C1Q Genes in Rett syndrome}}. {BMC Genomics};2016;17(1):427.
BACKGROUND: MECP2, the gene mutated in the majority of Rett syndrome cases, is a transcriptional regulator that can activate or repress transcription. Although the transcription regulatory function of MECP2 has been known for over a decade, it remains unclear how transcriptional dysregulation leads to the neurodevelopmental disorder. Notably, little convergence was previously observed between the genes abnormally expressed in the brain of Rett syndrome mouse models and those identified in human studies. METHODS: Here we carried out a comprehensive transcriptome analysis of human brain tissue from Rett syndrome brain using both RNA-seq and microarrays. RESULTS: We identified over two hundred differentially expressed genes, and identified the complement C1Q complex genes (C1QA, C1QB and C1QC) as a point of convergence between gene expression changes in human and mouse Rett syndrome brain. CONCLUSIONS: The results of our study support a role for alterations in the expression level of C1Q complex genes in RTT pathogenesis.
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5. Muller N, Baumeister S, Dziobek I, Banaschewski T, Poustka L. {{Validation of the Movie for the Assessment of Social Cognition in Adolescents with ASD: Fixation Duration and Pupil Dilation as Predictors of Performance}}. {J Autism Dev Disord};2016 (Jun 6)
Impaired social cognition is one of the core characteristics of autism spectrum disorders (ASD). Appropriate measures of social cognition for high-functioning adolescents with ASD are, however, lacking. The Movie for the Assessment of Social Cognition (MASC) uses dynamic social stimuli, ensuring ecological validity, and has proven to be a sensitive measure in adulthood. In the current study, 33 adolescents with ASD and 23 controls were administered the MASC, while concurrent eye tracking was used to relate gaze behavior to performance levels. The ASD group exhibited reduced MASC scores, with social cognition performance being explained by shorter fixation duration on eyes and decreased pupil dilation. These potential diagnostic markers are discussed as indicators of different processing of social information in ASD.
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6. Nicolaidis C, Raymaker D, McDonald K, Kapp S, Weiner M, Ashkenazy E, Gerrity M, Kripke C, Platt L, Baggs A. {{The Development and Evaluation of an Online Healthcare Toolkit for Autistic Adults and their Primary Care Providers}}. {J Gen Intern Med};2016 (Jun 6)
BACKGROUND: The healthcare system is ill-equipped to meet the needs of adults on the autism spectrum. OBJECTIVE: Our goal was to use a community-based participatory research (CBPR) approach to develop and evaluate tools to facilitate the primary healthcare of autistic adults. DESIGN: Toolkit development included cognitive interviewing and test-retest reliability studies. Evaluation consisted of a mixed-methods, single-arm pre/post-intervention comparison. PARTICIPANTS: A total of 259 autistic adults and 51 primary care providers (PCPs) residing in the United States. INTERVENTIONS: The AASPIRE Healthcare toolkit includes the Autism Healthcare Accommodations Tool (AHAT)-a tool that allows patients to create a personalized accommodations report for their PCP-and general healthcare- and autism-related information, worksheets, checklists, and resources for patients and healthcare providers. MAIN MEASURES: Satisfaction with patient-provider communication, healthcare self-efficacy, barriers to healthcare, and satisfaction with the toolkit’s usability and utility; responses to open-ended questions. KEY RESULTS: Preliminary testing of the AHAT demonstrated strong content validity and adequate test-retest stability. Almost all patient participants (>94 %) felt that the AHAT and the toolkit were easy to use, important, and useful. In pre/post-intervention comparisons, the mean number of barriers decreased (from 4.07 to 2.82, p < 0.0001), healthcare self-efficacy increased (from 37.9 to 39.4, p = 0.02), and satisfaction with PCP communication improved (from 30.9 to 32.6, p = 0.03). Patients stated that the toolkit helped clarify their needs, enabled them to self-advocate and prepare for visits more effectively, and positively influenced provider behavior. Most of the PCPs surveyed read the AHAT (97 %), rated it as moderately or very useful (82 %), and would recommend it to other patients (87 %). CONCLUSIONS: The CBPR process resulted in a reliable healthcare accommodation tool and a highly accessible healthcare toolkit. Patients and providers indicated that the tools positively impacted healthcare interactions. The toolkit has the potential to reduce barriers to healthcare and improve healthcare self-efficacy and patient-provider communication. Lien vers le texte intégral (Open Access ou abonnement)
7. Schneider M, de Vries PJ, Schonig K, Rossner V, Waltereit R. {{mTOR inhibitor reverses autistic-like social deficit behaviours in adult rats with both Tsc2 haploinsufficiency and developmental status epilepticus}}. {Eur Arch Psychiatry Clin Neurosci};2016 (Jun 4)
Epilepsy is a major risk factor for autism spectrum disorder (ASD) and complicates clinical manifestations and management of ASD significantly. Tuberous sclerosis complex (TSC), caused by TSC1 or TSC2 mutations, is one of the medical conditions most commonly associated with ASD and has become an important model to examine molecular pathways associated with ASD. Previous research showed reversal of autism-like social deficits in Tsc1 +/- and Tsc2 +/- mouse models by mammalian target of rapamycin (mTOR) inhibitors. However, at least 70 % of individuals with TSC also have epilepsy, known to complicate the severity and treatment responsiveness of the behavioural phenotype. No previous study has examined the impact of seizures on neurocognitive reversal by mTOR inhibitors. Adult Tsc2 +/- (Eker)-rats express social deficits similar to Tsc2 +/- mice, with additive social deficits from developmental status epilepticus (DSE). DSE was induced by intraperitoneal injection with kainic acid at post-natal days P7 and P14 (n = 12). The experimental group that modelled TSC pathology carried the Tsc2 +/- (Eker)-mutation and was challenged with DSE. The wild-type controls had not received DSE (n = 10). Four-month-old animals were analysed for social behaviour (T1), then treated three times during 1 week with 1 mg/kg everolimus and finally retested in the post-treatment behavioural analysis (T2). In the experimental group, both social interaction and social cognition were impaired at T1. After treatment at T2, behaviour in the experimental group was indistinguishable from controls. The mTOR inhibitor, everolimus, reversed social deficit behaviours in the Tsc2 haploinsufficiency plus DSE animal model to control levels.
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8. Spriggs AD, Gast DL, Knight VF. {{Video Modeling and Observational Learning to Teach Gaming Access to Students with ASD}}. {J Autism Dev Disord};2016 (Jun 6)
The purpose of this study was to evaluate both video modeling and observational learning to teach age-appropriate recreation and leisure skills (i.e., accessing video games) to students with autism spectrum disorder. Effects of video modeling were evaluated via a multiple probe design across participants and criteria for mastery were based on these results. Secondary measures were collected on observational learning across participants and behaviors. Participants included 4 children with autism, ages 8-11, who were served in self-contained special education classrooms. Results indicated a functional relation between video modeling and increased independence in gaming; observational learning occurred for at least some steps across students. Results, implications for practitioners, limitations, and ideas for future research are discussed.
