Pubmed du 24/11/18

samedi 24 novembre 2018

1. Altun H, Kurutas EB, Sahin N, Gungor O, Findikli E. The Levels of Vitamin D, Vitamin D Receptor, Homocysteine and Complex B Vitamin in Children with Autism Spectrum Disorders. Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology. 2018 ; 16(4) : 383-90.

Objective : Autism spectrum disorder (ASD) is a complex neurodevelopmental syndrome with an increasingly prevalent etiology, yet not fully understood. It has been thought that vitamin D, complex B vitamin levels and homocysteine are associated with environmental factors and are important in ASD. The aim of this study was to examine serum vitamin D, vitamin D receptor (VDR), homocysteine, vitamin B6, vitamin B12 and folate levels in ASD. Methods : In this study, serum vitamin D and VDR, homocysteine, vitamins B6, B12 and folate levels were determined in 60 patients with ASD (aged 3 to 12 years) and in 45 age-gender matched healthy controls. In addition, calcium, phosphorus and alkaline phosphatase, which are associated with vitamin D metabolism, were measured from serum in both groups. ASD severity was evaluted by the Childhood Autism Rating Scale (CARS). Results : Serum vitamin D and VDR were substantially reduced in patients with ASD in comparision to control group. However, homocysteine level was significantly higher and vitamin B6, vitamin B12 and folate were also reduced in patients with ASD. Total CARS score showed a positive association with homocysteine and a negative correlation with vitamins D,B6, B12, folate and VDR. Conclusion : This comprehensive study, which examines many parameters has shown that low serum levels of vitamins D, B6, B12, folate and VDR as well as high homocysteine are important in the etiopathogenesis of ASD. However, further studies are required to define the precise mechanism(s) of these parameters and their contributions to the etiology and treatment of ASD.

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2. Bozdogan ST, Kutuk MO, Tufan E, Altintas Z, Temel GO, Toros F. No Association between Polymorphisms of Vitamin D and Oxytocin Receptor Genes and Autistic Spectrum Disorder in a Sample of Turkish Children. Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology. 2018 ; 16(4) : 415-21.

Objective : Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairment in social skills and communication with repetitive behaviors. Etiology is still unclear although it is thought to develop with interaction of genes and environmental factors. Oxytocin has extensive effects on intrauterine brain development. Vitamin D, affects neural development and differentiation and contributes to the regulation of around 900 genes including oxytocin receptor gene. In the present study, the contribution of D vitamin receptor and oxytocin receptor gene polymorphisms in the development of ASD in Turkish community was investigated. To our knowledge, this is the first study examining these two associated genes together in the literature. Methods : Eighty-five patients diagnosed with ASD according to DSM-5 who were referred to outpatient clinics of Child and Adolescent Psychiatry of Baskent University and Mersin University and 52 healthy, age and gender-matched controls were included in the present study. Vitamin D receptor gene rs731236 (Taq1), rs2228570 (Fok1), rs1544410 (Bsm1), rs7975232 (Apa1) polymorphisms and oxytocin receptor gene rs1042778 and rs2268493 polymorphisms were investigated using real time polymerase chain reaction method. Results : No significant difference between groups in terms of distribution of genotype and alleles in each of polymorphisms for these genes could be found. Conclusion : Knowledge of genes and polymorphisms associated with the development of ASD may be beneficial for early diagnosis and future treatment. Further studies with larger populations are required to demonstrate molecular pathways which may play part in the development of ASD in Turkey.

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3. Burket JA, Deutsch SI. Metabotropic functions of the NMDA receptor and an evolving rationale for exploring NR2A-selective positive allosteric modulators for the treatment of autism spectrum disorder. Progress in neuro-psychopharmacology & biological psychiatry. 2018.

NMDA receptors are widely distributed throughout the brain and major therapeutic challenges include targeting specific NMDA receptor subtypes while preserving spatial and temporal specificity during their activation. The NR2A-subunit containing NMDA receptor is implicated in regulating synchronous oscillatory output of cortical pyramidal neurons, which may be disturbed in clinical presentations of autism spectrum disorder (ASD). Because NR2A-selective positive allosteric modulators (PAMs) preserve spatial and temporal selectivity while activating this subpopulation of receptors, they represent a promising strategy to address neocortical circuit abnormalities in ASD. In addition to promoting Ca(2+) entry and membrane depolarization, diverse metabotropic effects of NMDA receptor activation on signal transduction pathways occur within the cell, some of which depend on alignment of protein binding partners. For example, NMDA receptor agonist interventions attenuate impaired sociability in transgenic mice with ’loss-of-function’ mutations of the Shank family of scaffolding proteins, which highlights the necessity of a carefully orchestrated alignment of protein binding partners in the excitatory synapse. The current Review considers metabotropic functions of the NMDA receptor that could play a role in sociability and the pathogenesis of ASD (e.g., mTOR signaling), in addition to its more familiar ionotropic functions, and provides a rationale for therapeutic exploration of NR2A-selective PAMs.

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4. Cariveau T, La Cruz Montilla A, Gonzalez E, Ball S. A review of error correction procedures during instruction for children with developmental disabilities. Journal of applied behavior analysis. 2018.

Error correction procedures are remedial strategies presented following an incorrect response that increases the probability that a correct response will occur in the future. Error correction is commonly used during skill acquisition programs for children with developmental disabilities ; however, the specific strategy used may differ considerably. Recent comparative studies have examined the effect of numerous error correction procedures on the efficiency of acquisition for children with developmental disabilities. Despite considerable merit, minor procedural differences and unique terms for similar procedures likely affect comparisons across studies. Here, we clarify the procedures and findings of these studies and suggest areas of future research.

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5. Chung C, Ha S, Kang H, Lee J, Um SM, Yan H, Yoo YE, Yoo T, Jung H, Lee D, Lee E, Lee S, Kim J, Kim R, Kwon Y, Kim W, Kim H, Duffney L, Kim D, Mah W, Won H, Mo S, Kim JY, Lim CS, Kaang BK, Boeckers TM, Chung Y, Kim H, Jiang YH, Kim E. Early Correction of N-Methyl-D-Aspartate Receptor Function Improves Autistic-like Social Behaviors in Adult Shank2(-/-) Mice. Biological psychiatry. 2018.

BACKGROUND : Autism spectrum disorder involves neurodevelopmental dysregulations that lead to visible symptoms at early stages of life. Many autism spectrum disorder-related mechanisms suggested by animal studies are supported by demonstrated improvement in autistic-like phenotypes in adult animals following experimental reversal of dysregulated mechanisms. However, whether such mechanisms also act at earlier stages to cause autistic-like phenotypes is unclear. METHODS : We used Shank2(-/-) mice carrying a mutation identified in human autism spectrum disorder (exons 6 and 7 deletion) and combined electrophysiological and behavioral analyses to see whether early pathophysiology at pup stages is different from late pathophysiology at juvenile and adult stages and whether correcting early pathophysiology can normalize late pathophysiology and abnormal behaviors in juvenile and adult mice. RESULTS : Early correction of a dysregulated mechanism in young mice prevents manifestation of autistic-like social behaviors in adult mice. Shank2(-/-) mice, known to display N-methyl-D-aspartate receptor (NMDAR) hypofunction and autistic-like behaviors at postweaning stages after postnatal day 21 (P21), show the opposite synaptic phenotype-NMDAR hyperfunction-at an earlier preweaning stage ( approximately P14). Moreover, this NMDAR hyperfunction at P14 rapidly shifts to NMDAR hypofunction after weaning ( approximately P24). Chronic suppression of the early NMDAR hyperfunction by the NMDAR antagonist memantine (P7-P21) prevents NMDAR hypofunction and autistic-like social behaviors from manifesting at later stages ( approximately P28 and P56). CONCLUSIONS : Early NMDAR hyperfunction leads to late NMDAR hypofunction and autistic-like social behaviors in Shank2(-/-) mice, and early correction of NMDAR dysfunction has the long-lasting effect of preventing autistic-like social behaviors from developing at later stages.

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The mentalizing system and mirror system are thought to play important roles in inferring the internal mental states of others - a process known as mentalizing. Autism spectrum condition (ASC) is associated with difficulties in mentalizing. The aim of this study was to determine whether the behavioural difficulties in mentalizing associated with ASC can be explained by changes in functional connectivity between the mentalizing and mirror system. We recruited 40 adult participants (20 with ASC and 20 typically-developing). Brain activity was monitored using functional magnetic resonance imaging while participants watched videos in which actors performed hand actions. The videos were shown in separate mentalizing and non-mentalizing blocks. During mentalizing blocks, participants were asked to indicate whether hand actions were clumsy or spiteful (i.e. to judge the intent of the action). During non-mentalizing blocks, participants indicated whether the actions were successful or unsuccessful (i.e. to judge the outcome of the action). Higher activity during the mentalizing blocks compared to non-mentalizing blocks was found in regions associated with the mentalizing system : the dorsal medial prefrontal cortex (dmPFC) and the temporo-parietal junction (TPJ), as well as in regions typically associated with the mirror system : the inferior frontal gyrus (IFG) and the inferior parietal lobe (IPL). Next, functional connectivity between regions was evaluated as a function of task. During mentalizing blocks, there was increased functional connectivity between the dmPFC and the mirror system in typically developing participants. In contrast, there was no increase in functional connectivity between these regions in ASC participants. Connectivity between the dmPFC and IFG was negatively correlated with autistic traits. The reduced connectivity in ASC participants was consistent with behavioural performance on the mentalizing task, which was also negatively correlated with the level of autistic traits. Together, these data emphasise the importance of functional connectivity between the mentalizing and mirror systems when inferring social intentions and show that reduced connectivity between these systems may explain some of the behavioural difficulties experienced by adults with ASC.

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7. Conine DE, Vollmer TR. Relative preferences for edible and leisure stimuli in children with autism. Journal of applied behavior analysis. 2018.

Prior researchers have reported a tendency for individuals with developmental disabilities to select edible items more often than leisure items when those items are presented together in stimulus preference assessments. However, children with autism spectrum disorders (ASD), with whom many behavior analysts currently practice, are underrepresented in this body of literature. We conducted a replication of prior research with 26 children with ASD. Results indicated that edible items were more likely than leisure items to rank highly in our preference assessments, in concurrence with prior research. However, leisure items were also selected more often overall than in prior research, and significant individual variation was observed. These results suggest that preference assessments containing both edible and leisure stimuli can yield useful information for behavior analysts providing services to children with ASD, and the degree of preference for edible items noted in prior work may not be reflected in this contemporary population.

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8. Ivanovski I, Ivanovski A, Nikolic D, Ivanovski P. Aluminium in brain tissue in autism. Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS). 2019 ; 51 : 138-40.

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9. Kleberg JL, Nystrom P, Bolte S, Falck-Ytter T. Sex Differences in Social Attention in Infants at Risk for Autism. Journal of autism and developmental disorders. 2018.

We studied visual attention to emotional faces in 10-month-old infant siblings of children with ASD (ASD-sibs ; N = 70) and a siblings of typically developing children (N = 29) using static stimuli. Contrary to our predictions, we found no evidence for atypical gaze behavior in ASD-sibs when boys and girls were analyzed together. However, a sex difference was found in ASD-sibs’ visual attention to the mouth. Male ASD-sibs looked more at the mouth across emotions compared to male controls and female ASD-sibs. In contrast, female ASD-sibs looked less at the mouth compared to female controls. These findings suggest that some aspects of early emerging atypical social attention in ASD-sibs may be sex specific.

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10. Qoronfleh MW, Essa MM, Alharahsheh ST, Al-Farsi YM, Al-Adawi S. Autism in the Gulf States : a regional overview. Frontiers in bioscience (Landmark edition). 2019 ; 24 : 334-46.

In this review, we provide a Gulf region-centric view on autism with special focus on Qatar and Oman, including a review of seminal Qatari/Omani work from the literature. In addition, we offer a summary from the World Innovation Summit for Health and World Innovation Summit for Education autism reports as well as outline some of the main challenges, best practices and a path forward for the Gulf region from a healthcare perspective. Finally, we highlight the role of public outreach and awareness to lay the groundwork for enlightened policy for intervention and resource allocation to care for autistic individuals.

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11. Sigafoos J, O’Reilly MF, Ledbetter-Cho K, Lim N, Lancioni GE, Marschik PB. Addressing sequelae of developmental regression associated with developmental disabilities : A systematic review of behavioral and educational intervention studies. Neuroscience and biobehavioral reviews. 2018.

Developmental regression is characteristic of Rett syndrome and it also occurs in a number of other developmental disabilities. To assist clinicians in identifying promising therapeutic approaches, we identified 38 studies that sought to improve adaptive behavior functioning in cases where developmental regression had either already occurred or was likely to occur. Studies were summarized in terms of (a) participants, (b) intervention, (c) dependent variables, (d) outcomes, (e) study design, and (f) certainty of evidence. The available literature included 136 participants from preschoolers to adults. Most participants (n = 132) had Rett syndrome. Interventions targeted a range of dependent variables (e.g., challenging behavior, communication, motor, and play skills). Multi-component interventions derived from behavior analytic principles were the norm, suggesting the need for clinical expertise in the application of such principles. However, only 12 studies (with 44 participants) were rated as providing conclusive evidence of a positive intervention effect. Future research on the mechanisms underlying developmental regression might lead to new and more effective interventions.

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12. Venker CE. Cross-situational and ostensive word learning in children with and without autism spectrum disorder. Cognition. 2018 ; 183 : 181-91.

Numerous experimental studies have shown that infants and children can discover word meanings by using co-occurrences between labels and objects across individually ambiguous contexts-a phenomenon known as cross-situational learning. Like typically developing children, high-functioning school aged children with autism spectrum disorder (ASD) are capable of cross-situational learning. However, it is not yet clear whether cross-situational learning is similarly available to children with ASD who are younger and show a broader range of language and cognitive abilities. Using eye-tracking methodology, the current study provided the first evidence that preschool and early school-aged children with ASD can rely on cross-situational statistics to learn new words. In fact, children with ASD learned as well as typically developing children with similar vocabulary knowledge. In both groups, the children with the highest cross-situational learning accuracy were those who showed the best familiar word processing skills. Surprisingly, children in both groups learned words equally well in the cross-situational task and an ostensive word-learning task, which presented only a single label-object pairing at a time. In combination, these results point to similarities in the word learning abilities available to typically developing children and children with ASD.

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13. Walton KM. Leisure time and family functioning in families living with autism spectrum disorder. Autism : the international journal of research and practice. 2018 : 1362361318812434.

Family leisure can provide opportunities for both enjoyment and family growth. However, families of children with autism spectrum disorder experience multiple barriers to engaging in satisfying family leisure activities. This study surveyed parents of children with autism spectrum disorder ( n = 112) and parents of children with typical development ( n = 123) to examine relationships among family leisure involvement, leisure satisfaction, family functioning, and satisfaction with family life. Parents of children with autism spectrum disorder reported a similar amount of leisure involvement as families of typically developing children. However, they reported lower leisure satisfaction, poorer family functioning, and less satisfaction with family life. Mediation models suggested that low leisure satisfaction was related to less effective family communication, which in turn led to poorer family functioning and less satisfaction with family life. Amount of time spent in leisure made relatively small contributions to predicting other family variables. These results suggest that leisure-focused interventions for families of children with autism spectrum disorder should focus on improving quality, rather than quantity, of family leisure time.

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