1. {{Genetics: Potassium channel function linked to autism and epilepsy}}. {Nature reviews Neurology}. 2014 Feb 25.
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2. Accardo PJ, Barrow W. {{Toe Walking in Autism: Further Observations}}. {Journal of child neurology}. 2014 Feb 21.
Toe walking has been associated with language disorders and autism. To better understand the association between persistent toe walking and sensory and motor variables in children with autism, the degree of toe walking was compared with an estimate of the severity of sensory integration dysfunction symptoms and the presence of residual components of the tonic labyrinthine in supine reflex pattern in 61 children younger than 37 months of age with newly diagnosed autism. There was no association between the presence of toe walking and sensory symptoms (P = .5298) or language age (P = .6142), but there was an association between toe walking and the presence of components of the tonic labyrinthine reflex (P = .04222). These preliminary results support the contribution of subtle motor deficits to the evolution of some behaviors associated with autism.
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3. Al-Ghamdi M, Al-Ayadhi L, El-Ansary A. {{Selected biomarkers as predictive tools in testing efficacy of melatonin and coenzyme Q on propionic acid – induced neurotoxicity in rodent model of autism}}. {BMC neuroscience}. 2014 Feb 25;15(1):34.
BACKGROUND: Exposures to environmental toxins are now thought to contribute to the development of autism spectrum disorder. Propionic acid (PA) found as a metabolic product of gut bacteria has been reported to mimic/mediate the neurotoxic effects of autism. Results from animal studies may guide investigations on human populations toward identifying environmental contaminants that produce or drugs that protect from neurotoxicity. Forty-eight young male Western Albino rats were used in the present study. They were grouped into six equal groups 8 rats each. The first group received a neurotoxic dose of buffered PA (250 mg/Kg body weight/day for 3 consecutive days). The second group received only phosphate buffered saline (control group). The third and fourth groups were intoxicated with PA as described above followed by treatment with either coenzyme Q (4.5 mg/kg body weight) or melatonin (10 mg/kg body weight) for one week (therapeutically treated groups). The fifth and sixth groups were administered both compounds for one week prior to PA (protected groups). Heat shock protein70 (Hsp70), Gamma amino-butyric acid (GABA), serotonin, dopamine, oxytocin and interferon gamma-inducible protein 16 together with Comet DNA assay were measured in brain tissues of the six studied groups. RESULTS: The obtained data showed that PA caused multiple signs of brain toxicity revealed in depletion of GABA, serotonin, and dopamine, are which important neurotransmitters that reflect brain function, interferon gamma-inducible protein 16 and oxytocin. A high significant increase in tail length, tail DNA% damage and tail moment was reported indicating the genotoxic effect of PA. Administration of melatonin or coenzyme Q showed both protective and therapeutic effects on PA-treated rats demonstrated in a remarkable amelioration of most of the measured parameters. CONCLUSION: In conclusion, melatonin and coenzyme Q have potential protective and restorative effects against PA-induced brain injury, confirmed by improvement in biochemical markers and DNA double strand breaks.
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4. Bonete S, Calero MD, Fernandez-Parra A. {{Group training in interpersonal problem-solving skills for workplace adaptation of adolescents and adults with Asperger syndrome: A preliminary study}}. {Autism}. 2014 Feb 25.
Adults with Asperger syndrome show persistent difficulties in social situations which psychosocial treatments may address. Despite the multiple studies focusing on social skills interventions, only some have focused specifically on problem-solving skills and have not targeted workplace adaptation training in the adult population. This study describes preliminary data from a group format manual-based intervention, the Interpersonal Problem-Solving for Workplace Adaptation Programme, aimed at improving the cognitive and metacognitive process of social problem-solving skills focusing on typical social situations in the workplace based on mediation as the main strategy. A total of 50 adults with Asperger syndrome received the programme and were compared with a control group of typical development. The feasibility and effectiveness of the treatment were explored. Participants were assessed at pre-treatment and post-treatment on a task of social problem-solving skills and two secondary measures of socialisation and work profile using self- and caregiver-report. Using a variety of methods, the results showed that scores were significantly higher at post-treatment in the social problem-solving task and socialisation skills based on reports by parents. Differences in comparison to the control group had decreased after treatment. The treatment was acceptable to families and subject adherence was high. The Interpersonal Problem-Solving for Workplace Adaptation Programme appears to be a feasible training programme.
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5. Damiano CR, Aloi J, Burrus C, Garbutt JC, Kampov-Polevoy AB, Dichter GS. {{Intact Hedonic Responses to Sweet Tastes in Autism Spectrum Disorder}}. {Res Autism Spectr Disord}. 2014 Mar;8(3):230-6.
The Sweet Taste Test (STT) is a standardized measure designed to index the ability to detect differences in sweet tastes (sweet taste sensitivity) and hedonic responses to sweet tastes (sweet taste liking). Profiles of response on the STT suggest enhanced hedonic responses to sweet tastes in psychiatric disorders characterized by dysfunctional reward processing systems, including binge-eating disorders and substance use disorders, and a putative mechanism governing STT responses is the brain opioid system. The present study examined STT responses in 20 adults with autism spectrum disorder (ASD) and 38 healthy control adults. There were no differences in sweet taste sensitivity or hedonic response to sweet tastes between the ASD and control groups. Within the ASD sample, ASD symptom severity was associated with sweet taste sensitivity, but not hedonic response to sweet taste. Results may ultimately shed light on brain opioid system functioning in ASD.
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6. Joshi G, Faraone SV, Wozniak J, Petty C, Fried R, Galdo M, Furtak SL, McDermott K, Epstien C, Walker R, Caron A, Feinberg L, Biederman J. {{Examining the Clinical Correlates of Autism Spectrum Disorder in Youth by Ascertainment Source}}. {J Autism Dev Disord}. 2014 Feb 25.
To examine whether presentation of autism spectrum disorder (ASD) and associated patterns of psychiatric comorbidity and dysfunction vary by referral source. ASD youth referred to a specialized ambulatory program for ASD (N = 143) were compared to ASD youth referred to a general child psychiatry clinic (N = 217). More ASD clinic youth met criteria for a more robust form of ASD (autistic disorder); more youth referred to the psychiatry clinic met criteria for broader spectrum ASD (pervasive developmental disorder not otherwise specified). General psychiatry clinic youth with ASD suffered from a greater burden of psychopathologies and higher levels of dysfunction. The presentation of ASD in psychiatrically referred youth differs between general and ASD-specialized clinics, though both referral populations have high levels of comorbidity and dysfunction.
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7. Kovacs T, Bansagi B, Kelemen O, Keri S. {{Neuregulin 1-Induced AKT and ERK Phosphorylation in Patients with Fragile X Syndrome (FXS) and Intellectual Disability Associated with Obstetric Complications}}. {Journal of molecular neuroscience : MN}. 2014 Feb 23.
Animal models of fragile X syndrome (FXS) suggest the impairment of the intracellular AKT messenger system, which is activated by neuregulin 1 (NRG1), a key regulator of neurodevelopment. We investigated NRG1-induced activation of the AKT and extracellular signal-regulated kinase (ERK) systems by the measurement of the phosphorylated AKT/ERK to total AKT/ERK ratio in peripheral B lymphoblasts of patients with FXS, IQ-matched controls with intellectual disability (obstetric complications, preterm birth, perinatal hypoxia, and low birth weight), and typically developed healthy participants. Results revealed that patients with FXS displayed decreased AKT but normal ERK activation after the administration of NRG1. IQ-matched controls with intellectual disability displayed intact AKT/ERK activation. In conclusion, FXS, but not intellectual disability associated with obstetric complications, is associated with decreased NRG1-induced AKT phosphorylation.
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8. Laplana M, Royo JL, Aluja A, Lopez R, Heine-Sunyer D, Fibla J. {{Absence of substantial copy number differences in a pair of monozygotic twins discordant for features of autism spectrum disorder}}. {Case reports in genetics}. 2014;2014:516529.
Autism spectrum disorder (ASD) is a highly heritable disease (~0.9) with a complex genetic etiology. It is initially characterized by altered cognitive ability which commonly includes impaired language and communication skills as well as fundamental deficits in social interaction. Despite the large amount of studies described so far, the high clinical diversity affecting the autism phenotype remains poorly explained. Recent studies suggest that rare genomic variations, in particular copy number variation (CNV), may account for a significant proportion of the genetic basis of ASD. The use of disease-discordant monozygotic twins represents a powerful strategy to identify de novo and inherited CNV in the disorder. Here we present the results of a comparative genome hybridization (CGH) analysis with a pair of monozygotic twins affected of ASD with significant differences in their clinical manifestations that specially affect speech language impairment and communication skills. Array CGH was performed in three different tissues: blood, saliva, and hair follicle, in an attempt to identify germinal and somatic CNV regions that may explain these differences. Our results argue against a role of large CNV rearrangements as a molecular etiology of the observed differences. This forwards future research to explore de novo point mutation and epigenomic alterations as potential explanations of the observed clinical differences.
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9. van den Bergh SF, Scheeren AM, Begeer S, Koot HM, Geurts HM. {{Age Related Differences of Executive Functioning Problems in Everyday Life of Children and Adolescents in the Autism Spectrum}}. {J Autism Dev Disord}. 2014 Feb 23.
Numerous studies investigated executive functioning (EF) problems in people with autism spectrum disorders (ASD) using laboratory EF tasks. As laboratory task performances often differ from real life observations, the current study focused on EF in everyday life of 118 children and adolescents with ASD (6-18 years). We investigated age-related and individual differences in EF problems as reported by parents on the Behavioral Rating Inventory Executive Functions (BRIEF: Gioia et al. in Behavior rating inventory of executive function. Psychological Assessment Resources, Odesse 2000), and examined the association with autism severity. Inhibition problems were mostly found in the youngest group (6- to 8-year-olds), whereas problems with planning where more evident for 12- to 14-year-olds as compared to 9- to 11-year-olds. In a subsample of participants meeting the ADOS ASD cut-off criteria the age related differences in planning were absent, while problems with cognitive flexibility were less apparent in 15- to 18-year-olds, compared to 9- to 11-, and 12- to 14-year olds. EF problems surpassing the clinical cutoff were only observed in 20 % (planning) to 51 % (cognitive flexibility) of the children and adolescents, and no relation was found with ASD symptom severity. This underlines the heterogeneous nature of ASD.
