1. Alfawaz H, Bhat RS, Al-Mutairi M, Alnakhli OM, Al-Dbass A, AlOnazi M, Al-Mrshoud M, Hasan IH, El-Ansary A. {{Comparative study on the independent and combined effects of omega-3 and vitamin B12 on phospholipids and phospholipase A2 as phospholipid hydrolyzing enzymes in PPA-treated rats as a model for autistic traits}}. {Lipids Health Dis};2018 (Aug 31);17(1):205.
BACKGROUND: Abnormal phospholipid metabolism is a major component of many neurodevelopmental disorders including autism. Oral administration of propionic acid (PPA) can produce behavioral abnormalities and biochemical features in rodents similar to those observed in autism and can thus be used as a model to understand impaired brain fatty acid metabolism in autism. METHODS: The present study was designed to understand alterations in phospholipid metabolism in the brain of a rodent model of autism and to explore omega-3 and vitamin B12 as remedies. Five groups of rats were selected: Group 1 was the control. Group 2 was the rodent model of autism treated with a neurotoxic dose of PPA. Group 3 was given vitamin B12 cobalamin (16.7 mg/kg/day) for 30 days after PPA treatment. Group 4 was given pharmaceutical grade Omega-3 (200 mg cholesterol free-DHA/kg body weight/day), a product of Madre lab, Germany, for 30 days after PPA treatment for 3 days. Group 5 was given a combined dose of omega-3 + Vitamin B12 for the same duration post-PPA treatment. Phospholipid levels and Phospholipase A2 were measured in the brain homogenates of all the groups. ELISA and western blotting were used to detect the cPLA2 protein level. RESULTS: A significant decrease in phospholipid levels and a significant increase in cPLA2 were found in brain tissue of PPA-treated rats; however, both omega-3 and vitamin B12 were efficient in ameliorating the neurotoxic effect of PPA. CONCLUSION: Both omega-3 and vitamin B12 may play a role in ameliorating impaired phospholipid metabolism in autism; however, proper clinical trials are needed.
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2. Esposito G, Borelli JL. {{Investigating genes, environments, and their interactions in the service of informing individualized diagnosis and treatment in developmental disabilities}}. {Res Dev Disabil};2018 (Aug 28)
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3. Hodgins Z, Kelley E, Kloosterman P, Hall L, Hudson CC, Furlano R, Craig W. {{Brief Report: Do You See What I See? The Perception of Bullying in Male Adolescents with Autism Spectrum Disorder}}. {J Autism Dev Disord};2018 (Aug 31)
Although there is evidence to suggest that adolescents with autism spectrum disorder (ASD) have difficulty interpreting complex social situations, little is known about their understanding of bullying. Given the high rates of victimization in this population, it is important to investigate how adolescents with ASD comprehend bullying. Male adolescents with ASD and IQ-matched typically-developing (TD) controls (Mage = 14.62, SD = 1.91) watched six videos portraying bullying scenarios and were interviewed after each video. The interviews were coded for the participants’ understanding of the bullying scenarios. Results indicated that adolescents with ASD had significantly lower bullying understanding scores than TD adolescents. These novel findings suggest that male adolescents with ASD understand bullying differently than their TD peers. Implications for experiences with victimization are discussed.
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4. McGregor KK, Hadden RR. {{Brief Report: « Um » Fillers Distinguish Children With and Without ASD}}. {J Autism Dev Disord};2018 (Aug 31)
Two laboratories have reported that children with ASD are less likely than their typical peers to fill pauses with um but their use of uh is unaffected (Irvine et al., J Autism Dev Disord 46(3):1061-1070, 2016; Gorman et al., Autism Res 9(8):854-865, 2016). In this brief report, we replicated this finding by comparing the discourse of 7-to-15-year-olds with ASD (N = 31) to that of their typically developing same-age peers (N = 32). The robustness of this easily documented difference in discourse suggests a potentially useful clinical marker of ASD.
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5. Parsons L, Cordier R, Munro N, Joosten A. {{The feasibility and appropriateness of a peer-to-peer, play-based intervention for improving pragmatic language in children with autism spectrum disorder}}. {Int J Speech Lang Pathol};2018 (Sep 2):1-13.
PURPOSE: This study trialled a play-based, peer-to-peer intervention with children with autism spectrum disorder (ASD) to identify suitable instruments for measuring changes in pragmatic language following the intervention, and evaluate preliminary effectiveness. It also aimed to investigate the appropriateness of the intervention for participants. METHOD: Ten children with ASD, their typically developing peers, and parents participated. The Pragmatics Observational Measure (POM), Social Emotional Evaluation (SEE) and Profiling Elements of Prosody in Speech Communication (PEPS-C) measured the participant’s social communication skills before, after, and 2-months following the intervention. Parent interviews were conducted two months after the intervention and responses were analysed using a thematic approach. RESULT: Children demonstrated gains in pragmatic language on the POM (chi(2)(3) = 11.160, p = 0.011) and related higher-level language on the SEE (chi(2)(2) = 6.686, p = 0.035). The PEPS-C did not produce any significant results. Parent interview responses indicated the intervention was appropriate for the children and families involved. CONCLUSION: The intervention warrants further investigation of effectiveness with a more robust research design. Consideration should be given to using observational measures of pragmatic language away from the clinic environment to evaluate generalisation, and future development of the intervention might consider variations in playmates and group size.
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6. Poleg S, Golubchik P, Offen D, Weizman A. {{Cannabidiol as a suggested candidate for treatment of autism spectrum disorder}}. {Prog Neuropsychopharmacol Biol Psychiatry};2018 (Aug 29)
Autism Spectrum Disorder (ASD) is characterized by persistent deficits in social communication, restricted and repetitive patterns of behavior, interests, or activities and often intellectual disabilities. ASD has a number of prevalent co-morbidities, such as sleep disorders, attention deficit/hyperactivity disorder and epilepsy. No effective treatment for the core symptoms of ASD is currently available. There is increasing interest in cannabinoids, especially cannabidiol (CBD), as monotherapy or add-on treatment for the core symptoms and co-morbidities of ASD. In this review we summarize the available pre-clinical and clinical data regarding the safety and effectiveness of medical cannabis, including CBD, in young ASD patients. Cannabidiol seems to be a candidate for the treatment of ASD. At present, however, there are no convincing pre-clinical or clinical data showing efficacy and safety of cannabinoid treatment in ASD patients.
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7. Ye D, Tester DJ, Zhou W, Papagiannis J, Ackerman MJ. {{A Pore-Localizing CACNA1C-E1115K Missense Mutation, Identified in a Patient with Idiopathic QT Prolongation, Bradycardia, and Autism Spectrum Disorder, Converts the L-type Calcium Channel into a Hybrid Non-Selective Monovalent Cation Channel}}. {Heart Rhythm};2018 (Aug 29)
BACKGROUND: Gain-of-function variants in the CACNA1C-encoded L-type calcium channel (LTCC, Cav1.2) cause type 8 long QT syndrome (LQT8). The pore region contains highly conserved glutamic acid (E) residues that collectively form the LTCC’s selectivity filter. Here, we identified and characterized a pore-localizing missense variant, E1115K, that yielded a novel perturbation in the LTCC. OBJECTIVE: To determine whether CACNA1C-E1115K alters LTCC selectivity and is the substrate for the patient’s LQTS. METHODS: The proband was a 14-year-old male with idiopathic QT prolongation and bradycardia. Genetic testing revealed a missense variant, CACNA1C-E1115K. Whole-cell patch clamp technique was used to measure CACNA1C-WT and -E1115K currents when heterologously expressed in TSA201 cells. RESULTS: The CACNA1C-E1115K channel exhibited no inward calcium current. Instead, robust Ito-like outward currents which were blocked significantly by nifedipine were measured when extracellular/intracellular 2 mM/0.1 mM CaCl2 or 4 mM/141 mM KCl were applied. Further, when 140 mM extracellular NaCl was applied, the CACNA1C-E1115K channel revealed both robust inward persistent Na(+) current with slower inactivation and outward current which were also nifedipine sensitive. In contrast, CACNA1C-WT only revealed a small inward persistent Na(+) current without robust outward current. CONCLUSIONS: This CACNA1C-E1115K variant destroyed the LTCC’s calcium selectivity and instead converted the mutant channel into a channel with a marked increase in sodium-mediated inward current and potassium -mediated outward currents. Despite the anticipated 50% reduction in LTCC, the creation of a new population of channels with accentuated inward and outward currents represents the likely pathogenic substrates for the patient’s LQTS and arrhythmia phenotype.
