Pubmed du 27/06/20

samedi 27 juin 2020

1. Blume J, Wittke K, Naigles L, Mastergeorge AM. Language Growth in Young Children with Autism : Interactions Between Language Production and Social Communication. J Autism Dev Disord ;2020 (Jun 25)

Young children with autism spectrum disorder (ASD) present with a broad range of spoken language abilities, as well as delays in precursor skills such as gesture production and joint attention skills. While standardized assessments describe language strengths, the Communication and Symbolic Behavior Scales (CSBS-DP) is a particularly robust measure as it additionally characterizes precise aspects of social communication. This study provides a unique contribution by assessing the interactional effects of CSBS-DP Social Composite performance with early language samples on later language outcomes. Our results indicate that multiple social communication elements significantly interact with early spoken language to predict later language. Our findings also highlight the transactional relationship between early spoken vocabulary and social communication skills that bolster language development growth.

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2. Clements KM, Mitra M, Zhang J, Parish SL. Postpartum Health Care Among Women With Intellectual and Developmental Disabilities. Am J Prev Med ;2020 (Jun 27)

INTRODUCTION : Postpartum health care among women with intellectual and developmental disabilities has not been well studied. This study uses administrative claims to compare postpartum outpatient visits among women with and without intellectual and developmental disabilities. METHODS : Massachusetts All Payers Claims Database 2012-2015 was used to identify women with intellectual and developmental disabilities and a live birth during 2012-2014, matched by infant birth year to 3 women without intellectual and developmental disabilities. Women were followed up for 1 year after delivery. Analyses were conducted in 2019. Poisson regression compared guideline-concordant postpartum and other outpatient visits during the early (21-56 days after delivery) and late (57-365 days after delivery) periods. Types of nonpostpartum care visits were examined. RESULTS : Overall, 962 and 2,886 women with and without intellectual and developmental disabilities, respectively, comprised the sample. Among women with intellectual and developmental disabilities, 23.9% had a postpartum visit in the early and 33.3% in the late postpartum periods, compared with 25.2% and 32.1% of women without intellectual and developmental disabilities who had visits in the early and late postpartum periods, respectively (p=0.49, 0.59). Women with intellectual and developmental disabilities were more likely to have other outpatient visits than those without intellectual and developmental disabilities, both in the early (63.1% vs 40.3%, adjusted RR=1.42, 95% CI=1.28, 1.58, p<0.001) and late (94.2% vs 82.3%, RR=1.11, 95% CI=1.08, 1.14, p=0.008) postpartum periods. Ancillary services, home health services, and alcohol/drug-related visits were much more common among women with intellectual and developmental disabilities. CONCLUSIONS : Women with intellectual and developmental disabilities are equally likely to receive guideline-concordant postpartum visits and more likely to have other outpatient visits than other women. Further research is needed to evaluate visit quality and identify best practices to support mothers with intellectual and developmental disabilities during the postpartum period.

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3. Cucinotta F, Ricciardello A, Turriziani L, Calabrese G, Briguglio M, Boncoddo M, Bellomo F, Tomaiuolo P, Martines S, Bruschetta M, La Fauci Belponer F, Di Bella T, Colombi C, Baccarin M, Picinelli C, Castronovo P, Lintas C, Sacco R, Biederer T, Kellam B, Scherer SW, Persico AM. FARP-1 deletion is associated with lack of response to autism treatment by early start denver model in a multiplex family. Mol Genet Genomic Med ;2020 (Jun 25):e1373.

BACKGROUND : Children with autism spectrum disorder (ASD) display impressive clinical heterogeneity, also involving treatment response. Genetic variants can contribute to explain this large interindividual phenotypic variability. METHODS : Array-CGH (a-CGH) and whole genome sequencing (WGS) were performed on a multiplex family with two small children diagnosed with ASD at 17 and 18 months of age. Both brothers received the same naturalistic intervention for one year according to the Early Start Denver Model (ESDM), applied by the same therapists, yielding dramatically different treatment outcomes. RESULTS : The older sibling came out of the autism spectrum, while the younger sibling displayed very little, in any, improvement. This boy was subsequently treated applying a structured Early Intensive Behavioral Intervention paired with Augmentative Alternative Communication, which yielded a partial response within another year. The ESDM nonresponsive child carries a novel maternally inherited 65 Kb deletion at chr. 13q32.2 spanning FARP1. Farp1 is a synaptic scaffolding protein, which plays a significant role in neural plasticity. CONCLUSION : These results represent a paradigmatic example of the heuristic potential of genetic markers in predicting treatment response and possibly in supporting the targeted prescription of specific early intervention approaches.

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4. Del Hoyo Soriano L, Thurman AJ, Harvey D, Kover ST, Abbeduto L. Expressive language development in adolescents with Down syndrome and fragile X syndrome : change over time and the role of family-related factors. J Neurodev Disord ;2020 (Jun 27) ;12(1):18.

BACKGROUND : It is well known that individuals with Down syndrome (DS) or fragile X syndrome (FXS) demonstrate expressive language difficulties beginning early in childhood. It is less clear, however, whether expressive language skills change during the adolescent period in these individuals, and if any of these changes are syndrome specific. Studying this, as well as the role of maternal and family-related factors in expressive language development, may provide the foundation for efficacious interventions for adolescents with DS or FXS. METHODS : In this study, we examined expressive language trajectories, assessed through conversation and narration, in 57 adolescent males with intellectual disability (ID) (20 DS and 37 FXS) in relation to the diagnostic group (DS vs. FXS) and family-related factors (maternal IQ, maternal psychological distress, closeness in the mother-child relationship, family income, and maternal and paternal education) after adjusting for chronological age (CA) and nonverbal cognition. RESULTS : Changes over repeated annual assessments for males with DS or FXS were observed only during conversation, such as an increase in talkativeness, but a decrease in syntax complexity and lexical diversity. We found a diagnosis-related effect in the change over time in conversational talkativeness favoring those with FXS. Finally, a closer mother-child relationship predicted less decrease over time in lexical diversity during conversation, and participants of mothers who graduated college showed a greater increase in conversational talkativeness over time compared to those of mothers with a high school education. CONCLUSIONS : Our results suggest that, during the adolescent period for males with DS or FXS, there is an increase in the amount of talk produced in conversational contexts, but also a decrease in the quality of the language produced. In addition, our results indicate syndrome-specificity for aspects of expressive language development and reinforce the protective role of family-related factors.

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5. Derguy C, Loyal D, Devouche E, Cappe E. Should we use the Parental Stress Index-Short Form in parents of children with ASD ? A French validation study. Res Dev Disabil ;2020 (Jun 23) ;104:103716.

BACKGROUND : Parents of children with Autism Spectrum Disorder (ASD) exhibit higher levels of parental stress than parents of typically developing children. The most frequently used tools to assess parental stress is the Parenting Stress Index (PSI) or its Short Form (PSI-SF). AIMS : This study was designed to test the validity of the PSI-SF in French parents of children with ASD (N = 370). METHODS AND PROCEDURES : First, a confirmatory factor analysis was conducted to test the initial 3-factor structure (36 items) which indicate a poor model fit. Then, an exploratory factor analysis was performed and convergent validity was assessed. OUTCOMES AND RESULTS : A 3-factor structure (21 items) explaining 44 % of the variance was observed. Dimensions were moderately correlated and exhibited good internal consistency. Convergent validity was checked through the PSI-SF association with anxiety and depression (HADS), quality of life (WHOQOL-Brief) and appraisal of being a parent of a child with ASD (ALES). CONCLUSIONS AND IMPLICATIONS : Future research should use the full version of the PSI-SF and examine its factor structure. More studies on the factor structure of the PSI-SF are needed to find out if it is a suitable tool for measuring stress in parents of children with ASD in France.

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6. Dewinter J, van der Miesen AIR, Holmes LG. INSAR Special Interest Group Report : Stakeholder Perspectives on Priorities for Future Research on Autism, Sexuality, and Intimate Relationships. Autism Res ;2020 (Jun 25)

The number of empirical studies on sexuality and intimate relationships in autistic people has grown over the last years with the increasing awareness that sexuality and intimate relationships are an important part of life and well-being for autistic people. Further, expression and enjoyment of sexuality is a fundamental, basic human right. This paper reports on needs for future research in this area based on the input of autistic adults, researchers, and other stakeholders (e.g., parents and professionals). Utilizing the nominal group technique, 65 individuals participated in eight groups in which they brainstormed on research questions they deemed most important. Responses were categorized into themes and ranked according to importance based on the level of priority attributed by participants. Findings suggest that future research should focus on developing ways to support sexual and relationship well-being and getting a better understanding of sexuality and relationships in autistic people. Also, attention was drawn to the need for studying the influence of stereotypical societal views, and stigma. Finally, the importance of participatory research to include perspectives of autistic people in research and practice was stressed. LAY SUMMARY : Sexuality and romantic relationships are part of daily life for most people, including autistic people. For this study, groups of autistic people, professionals, and autism researchers discussed which research on autism, sexuality, and relationships is needed and can help autistic adolescents and adults. The group discussions revealed that more research is needed on how to support well-being relating to romantic relationships and sexuality in autistic people and how the people around them can contribute to this. Therefore, we also need to learn more about how autistic people of all ages and throughout their lives experience sexuality and relationships. Finally, the need for attention to the role of stereotypical ideas and stigma about autism, sexuality, and relationships was pointed out. Attention to the experiences of autistic people can help professionals, researchers, and policy makers to offer and organize attuned support and do relevant research.

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7. Di Lorenzo R, Munsters NM, Ward EK, de Jonge M, Kemner C, van den Boomen C. Is It Fear ? Similar Brain Responses to Fearful and Neutral Faces in Infants with a Heightened Likelihood for Autism Spectrum Disorder. J Autism Dev Disord ;2020 (Jun 27)

Individuals with autism spectrum disorder (ASD) show atypical processing of facial expressions. Research with autistic toddlers suggests that abnormalities in processing of spatial frequencies (SFs) contribute to such differences. The current event-related-potential (ERP) study investigated differences between 10-month-old infants with high- and low-likelihood for ASD in SF processing and in discrimination of fearful and neutral faces, filtered to contain specific SF. Results indicate no group differences in general processing of higher (HSF, detailed) and lower-SF (LSF, global) information. However, unlike low-likelihood infants, high-likelihood infants do not discriminate between facial expressions when either the LSF or HSF information is available. Combined with previous findings in toddlers, the current results indicate a developmental delay in efficient processing of facial expressions in ASD.

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8. Gevezova M, Sarafian V, Anderson G, Maes M. Inflammation and Mitochondrial Dysfunction in Autism Spectrum Disorder. CNS Neurol Disord Drug Targets ;2020 (Jun 27)

Autism Spectrum Disorders (ASD) is a severe childhood psychiatric condition with an array of cognitive, language and social impairments that can significantly impact on family life. ASD is classically characterized by reduced communication skills and social interactions, with limitations imposed by repetitive patterns of behavior, interests, and activities. The pathophysiology of ASD is thought to arise from complex interactions between environmental and genetic factors within the context of individual development. A growing body of research has raised the possibility of identifying the aetiological causes of the disorder. This review highlights the roles of immune-inflammatory pathways, nitro-oxidative stress and mitochondrial dysfunctions in ASD pathogenesis and symptom severity. The role of NK-cells, T helper, T regulatory and B-cells, coupled to increased inflammatory cytokines, lowered levels of immune-regulatory cytokines, and increased autoantibodies and microglial activation is elucidated. It is proposed that alterations in mitochondrial activity and nitro-oxidative stress are intimately associated with activated immune-inflammatory pathways. Future research should determine as to whether the mitochondria, immune-inflammatory activity and nitro-oxidative stress changes in ASD affect the development of amygdala-frontal cortex interactions. A number of treatment implications may arise, including preventionorientated prenatal interventions, treatment of pregnant women with vitamin D, and sodium butyrate. Treatments of ASD children and adults with probiotics, sodium butyrate and butyrate-inducing diets, antipurinergic therapy with suramin, melatonin, oxytocin and taurine are also discussed.

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9. Hirosawa T, Sowman PF, Fukai M, Kameya M, Soma D, Hino S, Kitamura T, An KM, Yoshimura Y, Hasegawa C, Saito D, Ikeda T, Kikuchi M. Relationship between epileptiform discharges and social reciprocity or cognitive function in children with and without autism spectrum disorders : an MEG study. Psychiatry Clin Neurosci ;2020 (Jun 26)

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10. Ingersoll B, Straiton D, Caquias NR. The Role of Professional Training Experiences and Manualized Programs in ABA Providers’ Use of Parent Training With Children With Autism. Behav Ther ;2020 (Jul) ;51(4):588-600.

Parent training, in which providers teach parents intervention strategies to promote their children’s skill acquisition and/or behavior management, is considered a best practice in the treatment for children with autism spectrum disorder (ASD) and yet is underutilized in community settings. The present study examined the role of training experiences and manual use in promoting the use of parent training by community providers who serve children with ASD. Applied behavior analysis (ABA) providers (N = 1,089) from across the United States completed self-report questionnaires online. The total number of professional training experiences related to parent training significantly predicted the extensiveness of providers’ use of parent training. Receiving supervision in parent training, being trained in a specific parent training approach, taking a course related to parent training, and participating in self-guided learning (e.g., webinar) were unique predictors of parent training extensiveness. While only 15% of ABA providers used manualized parent training programs, using a manual was also a unique predictor of parent training extensiveness. Parallel multiple mediator analyses demonstrated that family-, provider-, and organization-level barriers all partially mediated the relationship between number of training experiences and parent training extensiveness ; only provider- and organization-level barriers mediated the relationship between manual use and parent training extensiveness. Recommendations for training and supporting providers at the pre-service and in-service levels are discussed as a means of increasing access to parent training for children with ASD in community settings.

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11. Mihailov A, Philippe C, Gloaguen A, Grigis A, Laidi C, Piguet C, Houenou J, Frouin V. Cortical signatures in behaviorally clustered autistic traits subgroups : a population-based study. Transl Psychiatry ;2020 (Jun 27) ;10(1):207.

Extensive heterogeneity in autism spectrum disorder (ASD) has hindered the characterization of consistent biomarkers, which has led to widespread negative results. Isolating homogenized subtypes could provide insight into underlying biological mechanisms and an overall better understanding of ASD. A total of 1093 participants from the population-based "Healthy Brain Network" cohort (Child Mind Institute in the New York City area, USA) were selected based on score availability in behaviors relevant to ASD, aged 6-18 and IQ >= 70. All participants underwent an unsupervised clustering analysis on behavioral dimensions to reveal subgroups with ASD traits, identified by the presence of social deficits. Analysis revealed three socially impaired ASD traits subgroups : (1) high in emotionally dysfunctional traits, (2) high in ADHD-like traits, and (3) high in anxiety and depressive symptoms. 527 subjects had good quality structural MRI T1 data. Site effects on cortical features were adjusted using the ComBat method. Neuroimaging analyses compared cortical thickness, gyrification, and surface area, and were controlled for age, gender, and IQ, and corrected for multiple comparisons. Structural neuroimaging analyses contrasting one combined heterogeneous ASD traits group against controls did not yield any significant differences. Unique cortical signatures, however, were observed within each of the three individual ASD traits subgroups versus controls. These observations provide evidence of ASD traits subtypes, and confirm the necessity of applying dimensional approaches to extract meaningful differences, thus reducing heterogeneity and paving the way to better understanding ASD traits.

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12. Miller CJ, Kim GY, Zhao X, Usdin K. All three mammalian MutL complexes are required for repeat expansion in a mouse cell model of the Fragile X-related disorders. PLoS Genet ;2020 (Jun 26) ;16(6):e1008902.

Expansion of a CGG-repeat tract in the 5’ untranslated region of the FMR1 gene causes the fragile X-related disorders (FXDs ; aka the FMR1 disorders). The expansion mechanism is likely shared by the 35+ other diseases resulting from expansion of a disease-specific microsatellite, but many steps in this process are unknown. We have shown previously that expansion is dependent upon functional mismatch repair proteins, including an absolute requirement for MutLγ, one of the three MutL heterodimeric complexes found in mammalian cells. We demonstrate here that both MutLα and MutLβ, the two other MutL complexes present in mammalian cells, are also required for most, if not all, expansions in a mouse embryonic stem cell model of the FXDs. A role for MutLα and MutLβ is consistent with human GWA studies implicating these complexes as modifiers of expansion risk in other Repeat Expansion Diseases. The requirement for all three complexes suggests a novel model in which these complexes co-operate to generate expansions. It also suggests that the PMS1 subunit of MutLβ may be a reasonable therapeutic target in those diseases in which somatic expansion is an important disease modifier.

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13. Papangelo P, Pinzino M, Pelagatti S, Fabbri-Destro M, Narzisi A. Human Figure Drawings in Children with Autism Spectrum Disorders : A Possible Window on the Inner or the Outer World. Brain Sci ;2020 (Jun 23) ;10(6)

BACKGROUND : Tests based on human figure drawings (HFD) have captured the attention of clinicians and psychologists for a long time. The aim of the present study was to evaluate the performance of HFD of children with autism spectrum disorders (ASDs) relative to typically developing (TD) controls. METHODS : All children were asked to draw three human figures (man, woman, self-portrait) and were evaluated with a neuropsychological battery. HFD were scored according to the Maturity Scale, and correlative approaches testing maturity against neuropsychological scores were applied. RESULTS : ASDs presented marked deficits in maturity. No significant correlation emerged for both groups between maturity and the theory of mind test. On the contrary, positive and significant correlations between maturity and the affect recognition test (AR) were found, with group-specific patterns. In TD, this result regarded drawings of others, but not self-portraits, while an opposite pattern emerged for ASD, whose sole maturity in self-portraits significantly correlated with the AR scores. CONCLUSION : These findings suggest that the use of HFD tests with individuals with autism may not be used in clinical practices. However, in basic research, HFDs could be used to highlight dependencies between drawing performance and neuropsychological features, thus possibly providing hints on the functioning of autism.

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14. Shamsi Meymandi M, Sepehri G, Moslemizadeh A, Vakili Shahrbabaki S, Bashiri H. Prenatal pregabalin is associated with sex-dependent alterations in some behavioral parameters in valproic acid- induced autism in rat offspring. Int J Dev Neurosci ;2020 (Jun 25)

This study was performed to evaluate the effects of prenatal exposure to pregabalin (PGB) on behavioral changes of rat offspring in an animal model of valproic acid (VPA) induced autism- like symptoms. Pregnant rats received VPA (600mg/kg/ i.p.) once at 12.5 gestational days for autism- like symptom induction in offspring. After the delivery single male and single female offspring from each mother were randomly selected for behavioral test (anxiety, pain response, pleasure and motor function) at 60(th) day adulthood (n=7). Offspring received prenatal PGB (15 & 30 mg/kg/i.p.) during gestational days 9.5 to 15.5 either alone or in combination with VPA (PGB15, PGB30, PGB15+VPA, PGB30+VPA). Control offspring received normal saline during the same period. The result showed that prenatal VPA exposure was associated with autism-like behaviors in rat offspring. PGB treatment during the gestational period revealed significant reduction in sucrose preference test and anxiety in elevated plus maze and open field test in offspring. Also, PGB treatments exhibited a dose-dependent increase in pain threshold in prenatally VPA exposed rats in tail flick and hot plate test. Also, there was a sex-related significant impairment in motor function in beam balance and open field test, and male rats were affected more than females. However, no significant sex differences in sucrose preference and pain sensitivity were observed in prenatal PGB treated rat offspring. In conclusion, prenatal exposure to VPA increased the risk of autism like behaviors in the offspring rats, and PGB treatment during the gestational period was associated with some beneficial effects, including anxiety reduction and motor impairment in autism like symptoms in rat offspring.

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15. Suckle EK. DSM-5 and Challenges to Female Autism Identification. J Autism Dev Disord ;2020 (Jun 25)

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16. Xie X, Liu F, Xue Q, Zhou Y, Liu Q, Tang S, Zhu K, Wan Z, Zhang J, Zuo P, Song R. Association between NT5C2 rs11191580 and autism spectrum disorder in the Chinese Han population. Asian J Psychiatr ;2020 (Jun 16) ;53:102231.

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