Pubmed du 17/06/19

lundi 17 juin 2019

1. Adams D, Clark M, Keen D. Using self-report to explore the relationship between anxiety and quality of life in children on the autism spectrum. Autism Res ;2019 (Jun 17)

Anxiety is now recognized as one of the most common conditions that co-occur with autism. While there has been increased research describing the typical and autism-specific anxiety symptomatology and assessing the effectiveness of potential interventions, there has been less research exploring the impact that elevated anxiety may have on an individual and their quality of life (QoL). This study aimed to explore the impact of anxiety on the QoL in children on the autism spectrum. Children and young adolescents on the spectrum were invited to participate in a self-report study measuring anxiety and health-related QoL (HRQoL). The sample consisted of 71 children, aged 6-13. Children who scored above the cut off for elevated anxiety on the autism-specific measure of anxiety (ASC-ASD) had poorer total HRQoL and poorer scores on the social, emotional, physical, and school functioning QoL domains. Regression analyses indicate that children’s self-reported ratings of difficulties with uncertainty on the ASC-ASD predicted all domains of HRQoL, with higher levels of difficulty with uncertainty predicting poorer HRQoL. Elevated levels of anxious arousal were also predictive of poorer physical functioning. This study highlights the importance of exploring the impact of anxiety on individuals on the spectrum and suggests that using carefully planned interventions to reduce difficulties with uncertainty may be a potential way to work toward improving the QoL of children on the spectrum. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Research has shown us that individuals on the autism spectrum are more likely to have poor "quality of life" or general well-being. Because many individuals with a diagnosis on the autism spectrum also receive a diagnosis of anxiety, this study looked at whether a child’s autism symptoms or their anxiety have a bigger impact on their quality of life. Children on the autism spectrum completed questionnaires and the results showed us that one factor, difficulty with uncertainty, had the biggest impact on the child’s quality of life.

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2. Azhari A, Azizan F, Esposito G. Does Regression Exist ? Employing Biological Markers to Stratify Autism Spectrum Disorder (ASD). Neurosci Biobehav Rev ;2019 (Jun 13)

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3. Brown CE, Borduin CM, Dopp AR, Mazurek MO. The social ecology of aggression in youths with autism spectrum disorder. Autism Res ;2019 (Jun 17)

This study examined the social-ecological correlates of aggressive behavior in 120 youths with autism spectrum disorder. Youths were divided into three groups based on caregiver reports of the youth’s aggressive acts : youths who engaged in acts of both physical and verbal aggression, youths who engaged only in acts of physical aggression, and nonaggressive youths. Caregivers and youths completed self-report instruments and behavior rating inventories that assessed youth individual functioning, family relations, and extrafamilial factors (i.e., peer relations, academic performance). Results showed that youths who engaged in both verbal and physical aggression were characterized by poor sleep quality and victimization by peers, and their caregivers evidenced high levels of distress and avoidant coping. In contrast, youths who were physically but not verbally aggressive were distinguished by difficulties in social interaction and communication. In general, each group of youths who were aggressive experienced more problems with repetitive behaviors, family relations, and academic performance than did their nonaggressive counterparts. The implications of these findings for theory, research, and treatment are discussed. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : The present study demonstrated that youths with autism spectrum disorder may be classified by the types of aggressive behaviors that they exhibit : youths who are verbally and physically aggressive, physically aggressive only, or not aggressive. Compared to the nonaggressive group, both groups of youths who were aggressive experienced difficulties in their individual, family, peer, and academic functioning. Youths with both verbal and physical aggression showed the most problems in their functioning.

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4. Ciepiela F, Jakubowska M. Pattern recognition in voltammetric signals by ASD trilinear decomposition. Talanta ;2019 (Oct 1) ;203:23-28.

This work proposes a modern approach in separation of voltammetric current components which applies a pattern recognition strategy. Application of the trilinear decomposition algorithm ASD was first time demonstrated for detection and modelling of faradaic and capacitive components, recorded as total signal in DPV experiments. Using calibration set of the model substance i.e. K4Fe(CN)6, sampled with the frequency of 1kHz, the signal components were extracted, which shape was consistent with the theoretic relations. Fitting in the area of peak expressed by r was 0.9957 for faradaic current and 0.9916 for capacitive component. Also the successive stages of the redox process was identified and interpreted. Essential influence for the quantitative analysis was observed. DP voltammograms utilizing all faradaic current samples were characterized by zero baseline and improved calibration line parameters. A wide application list of this modern strategy was also proposed.

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5. Kumar S, Reynolds K, Ji Y, Gu R, Rai S, Zhou CJ. Impaired neurodevelopmental pathways in autism spectrum disorder : a review of signaling mechanisms and crosstalk. J Neurodev Disord ;2019 (Jun 15) ;11(1):10.

BACKGROUND : The development of an autistic brain is a highly complex process as evident from the involvement of various genetic and non-genetic factors in the etiology of the autism spectrum disorder (ASD). Despite being a multifactorial neurodevelopmental disorder, autistic patients display a few key characteristics, such as the impaired social interactions and elevated repetitive behaviors, suggesting the perturbation of specific neuronal circuits resulted from abnormal signaling pathways during brain development in ASD. A comprehensive review for autistic signaling mechanisms and interactions may provide a better understanding of ASD etiology and treatment. MAIN BODY : Recent studies on genetic models and ASD patients with several different mutated genes revealed the dysregulation of several key signaling pathways, such as WNT, BMP, SHH, and retinoic acid (RA) signaling. Although no direct evidence of dysfunctional FGF or TGF-beta signaling in ASD has been reported so far, a few examples of indirect evidence can be found. This review article summarizes how various genetic and non-genetic factors which have been reported contributing to ASD interact with WNT, BMP/TGF-beta, SHH, FGF, and RA signaling pathways. The autism-associated gene ubiquitin-protein ligase E3A (UBE3A) has been reported to influence WNT, BMP, and RA signaling pathways, suggesting crosstalk between various signaling pathways during autistic brain development. Finally, the article comments on what further studies could be performed to gain deeper insights into the understanding of perturbed signaling pathways in the etiology of ASD. CONCLUSION : The understanding of mechanisms behind various signaling pathways in the etiology of ASD may help to facilitate the identification of potential therapeutic targets and design of new treatment methods.

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6. Nahmias AS, Pellecchia M, Stahmer AC, Mandell DS. Effectiveness of community-based early intervention for children with autism spectrum disorder : a meta-analysis. J Child Psychol Psychiatry ;2019 (Jun 17)

BACKGROUND : Research trials of early intervention (EI) programs for children with autism spectrum disorder (ASD) generally demonstrate medium-to-large gains, on average, compared with "treatment as usual," in different developmental domains. Almost all children with ASD receive their treatment through community-based services, however, and studies suggest that evidence-based interventions rarely make their way into community practice. Understanding the effectiveness of community-based EI and factors associated with these effects is the first step in developing strategies for wide-scale implementation of effective EI. METHODS : Studies of community-based EI for children with ASD were identified through a systematic search. Changes in cognitive, communication, social, and adaptive functioning from pre-treatment to post-treatment were assessed using standardized mean gain scores. Effect sizes were estimated using random effects models. Moderators of interest included type of community EI program, year of publication, intervention duration, and sample selection. Moderator effects were assessed using analysis of variance of mixed-effects models and meta-regression analyses. RESULTS : Forty-six groups from 33 studies met inclusion criteria (1,713 participants, mean age 37.4 months, 81.1% male). There were small but statistically significant gains in each of the four domains. Hedges’s g ranged from 0.21 for adaptive behavior to 0.32 for communication outcomes, after removing outliers and correcting for publication bias. EI programs associated with universities and hospitals were superior, on average, to other community EI programs for cognitive and adaptive behavior outcomes. Intervention duration was negatively associated with effect sizes for communication and adaptive behavior outcomes. CONCLUSIONS : These results indicate that there remains a large gap between outcomes observed in community settings and those reported in efficacy trials.

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7. Ryan K, Thompson L, Mendoza PA, Chadman KK. Inbred strain preference in the BTBR T(+) Itpr3(tf) /J mouse model of autism spectrum disorder : Does the stranger mouse matter in social approach ?. Autism Res ;2019 (Jun 17)

BTBR T(+) Itpr3(tf) /J (BTBR) mice have been used as a model of autism spectrum disorder (ASD) due to their low levels of sociability and high levels of repetitive grooming. These experiments explored social behavior in the BTBR and C57BL/6J mice using variations of the three-chambered social approach test. In the first test, the subject mice had a choice between a stranger mouse of the same strain or from a strain with a different level of sociability. The BTBR male mice demonstrated a strong preference for the more social C57BL/6J stranger mouse, as did the C57BL/6J male mice, although more moderately with sniff time only. The C57BL/6J female mice showed a moderate preference, sniff time only, for the BTBR stranger mouse, whereas the BTBR female mice did not show a preference. The second experiment examined whether the subject mouse preferred a stranger mouse or bedding from the stranger mouse home cage. Male BTBR mice always preferred bedding, whereas the C57BL/6J male mice did not show a preference. Both BTBR and C57BL/6J female mice preferred bedding when the stranger mouse was a different strain but not when the stranger mouse was the same strain. Therefore, the stranger mouse strain seems to influence the preference of the female mice more than the male mice. The mice preferred spending time in the chamber with the social smell but not the actual stranger mouse although not always significantly. This suggests that contact with a stranger mouse is more stressful or anxiety provoking than the smell. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : BTBR T(+) Itpr3(tf) /J (BTBR) mice have been used as a model of autism spectrum disorder (ASD) due to their low levels of sociability and high levels of repetitive grooming. These experiments explored social behavior in the BTBR and C57BL/6J mice using variations of the three-chambered social approach test. These experiments examined how the sociability level of the stranger mouse affected the subject mouse’s preference and if social odor was preferable to a social situation in the BTBR mice. The BTBR male mice demonstrated a strong preference for the more social C57BL/6J stranger mouse, as did the C57BL/6J male mice. The C57BL/6J female mice showed a moderate preference for the BTBR stranger mouse, whereas the BTBR female mice did not show a preference for either stranger mouse. The second modification let the subject mouse have a choice between a stranger mouse or bedding. Male BTBR mice preferred bedding, regardless of the strain of the stranger mouse, whereas the C57BL/6J male mice did not show a preference. Both BTBR and C57BL/6J female mice preferred bedding when the stranger mouse was a different strain but showed no preference when the stranger mouse was from the same strain. The stranger mouse strain seems to influence the female mice more. Male BTBR mice preferred spending time in the chamber with the social smell but not the actual mouse, suggesting that actual contact with a stranger mouse is more stressful or anxiety provoking.

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8. Vidal S, Pascual-Alonso A, Rabaza-Gairi M, Gerotina E, Brandi N, Pacheco P, Xiol C, Pineda M, Armstrong J. Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis. Mol Genet Genomic Med ;2019 (Jun 17):e793.

BACKGROUND : Rett syndrome (RTT) is a developmental disorder with an early onset and X-linked dominant inheritance pattern. It is first recognized in infancy and is seen almost always in girls, but it may be seen in boys on rare occasions. Typical RTT is caused by de novo mutations of the gene MECP2 (OMIM*300005), and atypical forms of RTT can be caused by mutations of the CDKL5 (OMIM*300203) and FOXG1 (OMIM*164874) genes. METHODS : Approximately 5% of the mutations detected in MECP2 are large rearrangements that range from exons to the entire gene. Here, we have characterized the deletions detected by multiplex ligation-dependent probe amplification (MLPA) in the gene MECP2 of 21 RTT patients. Breakpoints were delineated by DNA-qPCR until the amplification of the deleted allele by long-PCR was possible. RESULTS : This methodology enabled us to characterize deletions ranging from 1,235 bp to 85 kb, confirming the partial or total deletion of the MECP2 gene in all these patients. Additionally, our cases support the evidence claiming that most of these breakpoints occur in some restricted regions of the MECP2 gene. CONCLUSION : These molecular data together with the clinical information enable us to propose a genotype-phenotype correlation, which is essential for providing genetic counseling.

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9. Walkley SU, Abbeduto L, Batshaw ML, Bhattacharyya A, Bookheimer SY, Christian BT, Constantino JN, de Vellis J, Doherty DA, Nelson DL, Piven J, Poduri A, Pomeroy SL, Samaco RC, Zoghbi HY, Guralnick MJ. Intellectual and Developmental Disabilities Research Centers : 50 Years of Scientific Accomplishments. Ann Neurol ;2019 (Jun 17)

Progress in addressing the origins of intellectual and developmental disabilities accelerated with the establishment 50 years ago of the Eunice Kennedy Shriver National Institute of Child Health and Human Development of the National Institutes of Health and associated Intellectual and Developmental Disabilities Research Centers. Investigators at these Centers have made seminal contributions to understand human brain and behavioral development, and to define mechanisms and treatments of disorders of the developing brain. This article is protected by copyright. All rights reserved.

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