Pubmed du 05/01/19

samedi 5 janvier 2019

1. Bjorklund G, Waly MI, Al-Farsi Y, Saad K, Dadar M, Rahman MM, Elhoufey A, Chirumbolo S, Jozwik-Pruska J, Kaluzna-Czaplinska J. The Role of Vitamins in Autism Spectrum Disorder : What Do We Know ?. Journal of molecular neuroscience : MN. 2019.

Vitamin or mineral supplementation is considered to be the most commonly used medical treatment for autism spectrum disorder (ASD), in addition to other interventions such as neurological and psychological interventions. There is not much evidence of therapeutic efficacy between vitamin and mineral supplementation and improvements in ASD. However, several researchers have noted that patients with ASD have various metabolic and nutritional abnormalities including issues with sulfation, methylation, glutathione redox imbalances, oxidative stress, and mitochondrial dysfunction. There is some evidence that vitamin and mineral supplementation may support these basic physiologic processes. Recently, the nutritional status of ASD patients has been gaining focus in this particular area. Pointing out the nutritional status as a potential etiological factor for attention/communication disorders, more importance has been given to this particular point. Moreover, autistic specific considerations like the feature and behavior of ASD might be increased or at least fall in the higher risk due to the sub-optimal nutritional status.

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2. Bolotta A, Battistelli M, Falcieri E, Ghezzo A, Manara MC, Manfredini S, Marini M, Posar A, Visconti P, Abruzzo PM. Oxidative Stress in Autistic Children Alters Erythrocyte Shape in the Absence of Quantitative Protein Alterations and of Loss of Membrane Phospholipid Asymmetry. Oxidative medicine and cellular longevity. 2018 ; 2018 : 6430601.

Red blood cells (RBCs) from people affected by autism spectrum disorders (ASDs) are a target of oxidative stress. By scanning electron microscopy, we analyzed RBC morphology from 22 ASD children and show here that only 47.5 +/- 3.33% of RBC displayed the typical biconcave shape, as opposed to 87.5 +/- 1.3% (mean +/- SD) of RBC from 21 sex- and age-matched healthy typically developing (TD) controls. Codocytes and star-shaped cells accounted for about 30% of all abnormally shaped ASD erythrocytes. RBC shape alterations were independent of the anticoagulant used (Na2-EDTA or heparin) and of different handling procedures preceding glutaraldehyde fixation, thus suggesting that they were not artefactual. Incubation for 24 h in the presence of antioxidants restored normal morphology in most erythrocytes from ASD patients. By Coomassie staining, as well as Western blotting analysis of relevant proteins playing a key role in the membrane-cytoskeleton organization, we were unable to find differences in RBC ghost composition between ASD and normal subjects. Phosphatidylserine (PS) exposure towards the extracellular membrane domain was examined in both basal and erythroptosis-inducing conditions. No differences were found between ASD and TD samples except when the aminophospholipid translocase was blocked by N-ethylmaleimide, upon which an increased amount of PS was found to face the outer membrane in RBC from ASD. These complex data are discussed in the light of the current understanding of the mode by which oxidative stress might affect erythrocyte shape in ASD and in other pathological conditions.

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3. Cariveau T, Shillingsburg MA, Alamoudi A, Thompson T, Bartlett B, Gillespie S, Scahill L. Brief Report : Feasibility and Preliminary Efficacy of a Behavioral Intervention for Minimally Verbal Girls with Autism Spectrum Disorder. Journal of autism and developmental disorders. 2019.

We report the feasibility and preliminary efficacy of a structured behavioral intervention with a sample of minimally verbal girls with autism spectrum disorder between the ages of 2 and 6 years old. Ten participants with no functional vocal behavior were randomized to a 4-week behavioral intervention or waitlist control group. Caregivers reported child communicative repertoires at pre- and post-randomization assessments. Social communication was also assessed at these time points using the Early Social Communication Scales. All feasibility benchmarks were met and findings of preliminary efficacy showed large effect sizes within groups. The current findings suggest the feasibility of recruiting and retaining samples of young, minimally verbal girls with autism spectrum disorder in randomized clinical trials.

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4. Gazy I, Hayward B, Potapova S, Zhao X, Usdin K. Double-strand break repair plays a role in repeat instability in a fragile X mouse model. DNA repair. 2018.

Expansion of a CGG-repeat tract in the 5’ UTR of FMR1 is responsible for the Fragile X-related disorders (FXDs), FXTAS, FXPOI and FXS. Previous work in a mouse model of these disorders has implicated proteins in the base excision and the mismatch repair (MMR) pathways in the expansion mechanism. However, the precise role of these factors in this process is not well understood. The essential role of MutLgamma, a complex that plays a minor role in MMR but that is essential for resolving Holliday junctions during meiosis, raises the possibility that expansions proceed via a Holliday junction-like intermediate that is processed to generate a double-strand break (DSB). We show here in an FXD mouse model that LIG4, a ligase essential for non-homologous end-joining (NHEJ), a form of DSB repair (DSBR), protects against expansions. However, a mutation in MRE11, a nuclease that is important for several other DSBR pathways including homologous recombination (HR), has no effect on the extent of expansion. Our results suggest that the expansion pathway competes with NHEJ for the processing of a DSB intermediate. Thus, expansion likely proceeds via an NHEJ-independent DSBR pathway that may also be HR-independent.

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5. Jashar DT, Fein D, Berry LN, Burke JD, Miller LE, Barton ML, Dumont-Mathieu T. Parental Perceptions of a Comprehensive Diagnostic Evaluation for Toddlers at Risk for Autism Spectrum Disorder. Journal of autism and developmental disorders. 2019.

Parent satisfaction with neurodevelopmental evaluations may influence the pursuit of intervention. Parent satisfaction with a neurodevelopmental evaluation for toddlers at risk for autism (n = 257 ; 128 with autism) was examined using the Post-Evaluation Satisfaction Questionnaire, which collected quantitative and qualitative information. Fewer ethnic/racial minority than non-minority parents returned the questionnaire. Factor analysis indicated a one-factor model, Total score, which did not differ significantly by diagnosis, autism severity, child’s cognitive or adaptive delay, family race/ethnicity, maternal education, family annual income, or parental stress. Examination of 24 individual items showed a race/ethnicity difference for only one item ; minority parents scored the evaluation as meeting their needs less. Qualitative data stressed the importance of fully explaining diagnoses/recommendations and providing direct and clear feedback.

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6. Kato H, Ozaki N. [The considerations for diagnosis of autism spectrum disorders and its pathogenic mechanisms]. Rinsho shinkeigaku = Clinical neurology. 2018.

Autism spectrum disorder (ASD) is characterized by deficits in social interaction and social communication, along with restricted and repetitive sensory-motor behaviors. The diagnosis of ASD includes various phenotypes outlined in the American Psychiatric Association’s Diagnostic and Statistical Manual of Mental Disorders (DSM)-5. The comprehensive evaluation of each individual case with ASD is needed because many of them have comorbidity with number of neuropsychiatric disorders or somatic conditions. The growing number of genetic studies detected multiple rare variants with relatively large effect sizes. The results have revealed their common potential pathology including abnormal chromatin regulation, which induces epigenetic changes. More researches are expected to elucidate the pathogenesis of ASD and to develop therapeutic approaches.

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7. Mazahery H, Conlon CA, Beck KL, Mugridge O, Kruger MC, Stonehouse W, Camargo CA, Jr., Meyer BJ, Tsang B, Jones B, von Hurst PR. A Randomised-Controlled Trial of Vitamin D and Omega-3 Long Chain Polyunsaturated Fatty Acids in the Treatment of Core Symptoms of Autism Spectrum Disorder in Children. Journal of autism and developmental disorders. 2019.

We evaluated the efficacy of vitamin D (VID), omega-3 long chain polyunsaturated fatty acids (omega-3 LCPUFA, OM), or both (VIDOM) on core symptoms of ASD. New Zealand children with ASD (n = 73 ; aged 2.5-8.0 years) received daily 2000 IU vitamin D3, 722 mg docosahexaenoic acid, both, or placebo. Outcome measures were Social Responsiveness Scale (SRS) and Sensory Processing Measure (SPM). Of 42 outcome measures comparisons (interventions vs. placebo), two showed greater improvements (P = 0.03, OM and VIDOM for SRS-social awareness) and four showed trends for greater improvements (P < 0.1, VIDOM for SRS-social communicative functioning, OM for SRS-total, VIDOM for SPM-taste/smell and OM for SPM-balance/motion). Omega-3 LCPUFA with and without vitamin D may improve some core symptoms of ASD but no definitive conclusions can be made.

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8. Pijl MKJ, Bussu G, Charman T, Johnson MH, Jones EJH, Pasco G, Oosterling IJ, Rommelse NNJ, Buitelaar JK. Temperament as an Early Risk Marker for Autism Spectrum Disorders ? A Longitudinal Study of High-Risk and Low-Risk Infants. Journal of autism and developmental disorders. 2019.

To investigate temperament as an early risk marker for autism spectrum disorder (ASD), we examined parent-reported temperament for high-risk (HR, n = 170) and low-risk (LR, n = 77) siblings at 8, 14, and 24 months. Diagnostic assessment was performed at 36 months. Group-based analyses showed linear risk gradients, with more atypical temperament for HR-ASD, followed by HR-Atypical, HR-Typical, and LR siblings. Temperament differed significantly between outcome groups (0.03 </= etap(2) </= 0.34). Machine learning analyses showed that, at an individual level, HR-ASD siblings could not be identified accurately, whereas HR infants without ASD could. Our results emphasize the discrepancy between group-based and individual-based predictions and suggest that while temperament does not facilitate early identification of ASD individually, it may help identify HR infants who do not develop ASD.

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9. Zhang XC, Shu LQ, Zhao XS, Li XK. Autism spectrum disorders : autistic phenotypes and complicated mechanisms. World journal of pediatrics : WJP. 2019.

BACKGROUND : Autism spectrum disorder (ASD), a pervasive developmental neurological disorder, is characterized by impairments in social interaction and communication, and stereotyped, repetitive patterns of interests or behaviors. The mechanism of ASDs is complex, and genetic components and epigenetic modifications play important roles. In this review, we summarized the recent progresses of ASDs focusing on the genetic and epigenetic mechanisms. We also briefly discussed current animal models of ASD and the application of high-throughput sequencing technologies in studying ASD. DATA SOURCES : Original research articles and literature reviews published in PubMed-indexed journals. RESULTS : Individuals with ASDs exhibit a set of phenotypes including neurological alteration. Genetic components including gene mutation, copy-number variations, and epigenetic modifications play important and diverse roles in ASDs. The establishment of animal models and development of new-generation sequencing technologies have contributed to reveal the complicated mechanisms underlying autistic phenotypes. CONCLUSIONS : Dramatic progress has been made for understanding the roles of genetic and epigenetic components in ASD. Future basic and translational studies should be carried out towards those candidate therapeutic targets.

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