Pubmed du 22/04/20

mercredi 22 avril 2020

1. Chan KKS, Leung DCK. The Impact of Child Autistic Symptoms on Parental Marital Relationship : Parenting and Coparenting Processes as Mediating Mechanisms. Autism Res. 2020.

Research shows that parenting a child with autism spectrum disorder (ASD) is associated with increased marital conflicts and reduced marital love. Less is known, however, about the potential mechanism underlying these associations. The present study tested a family process model linking child autism to parental marriage. We hypothesized that child autistic symptoms would be associated with increased marital conflicts and reduced marital love among parents of children with ASD, and that these associations would be mediated by parenting stress and coparenting conflicts. A total of 382 parents of children with ASD from Hong Kong, China completed questionnaire measures of child autistic symptoms, parenting stress, coparenting conflicts, marital conflicts, and marital love. Structural equation modeling (SEM) and Bootstrap analyses were conducted to analyze the relations among the variables. SEM showed that child autistic symptoms were related to higher levels of parenting stress and coparenting conflicts, which were, in turn, related to increased marital conflicts and reduced marital love among parents of children with ASD. Bootstrap analyses further demonstrated that child autistic symptoms had significant indirect effects on marital conflicts and marital love via parenting stress and coparenting conflicts. Theoretically, this study revealed the potential pathways through which child autism symptomatology may adversely impact the family processes and compromise the marital relationships of parents of children with ASD. Practically, this study pointed to the utility of helping parents of children with ASD to manage child autistic symptoms, alleviate parenting stress, and reduce coparenting conflicts in improving their marital qualities. LAY SUMMARY : This study showed that child autistic symptoms were related to higher levels of parenting stress and coparenting conflicts, which were, in turn, related to increased marital conflicts and reduced marital love among parents of children with autism spectrum disorder (ASD). These findings pointed to the importance of helping parents of children with ASD to manage child autistic symptoms, alleviate parenting stress, and reduce coparenting conflicts in improving their marital qualities. (c) 2020 International Society for Autism Research, Wiley Periodicals, Inc.

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2. Coleman-Fountain E, Buckley C, Beresford B. Improving mental health in autistic young adults : a qualitative study exploring help-seeking barriers in UK primary care. The British journal of general practice : the journal of the Royal College of General Practitioners. 2020.

BACKGROUND : Autistic people are at increased risk of developing mental health problems. To reduce the negative impact of living with autism in a non-autistic world, efforts to improve take-up and access to care, and support in early years, which will typically start with a GP appointment, must be grounded in the accounts of autistic young adults. AIM : To explore how autistic young adults understand and manage mental health problems ; and to consider help seeking as a focus. DESIGN AND SETTING : A cross-sectional, qualitative study. Autistic participants were purposively selected to represent a range of mental health conditions including anxiety and depression. A subsample were recruited from a population cohort screened for autism in childhood. The study concerns access to primary care. METHOD : Nineteen autistic young adults without learning disabilities, aged 23 or 24 years, were recruited. In-depth, semi-structured interviews explored how they understood and managed mental health problems. Data were analysed thematically. RESULTS : Young adults preferred self-management strategies. Multiple factors contributed to a focus on self-management, including : beliefs about the aetiology of mental health difficulties and increased vulnerability with the context of a diagnosis of autism, knowledge of self-management, and a view that formal support was unavailable or inadequate. Families had limited awareness of professional support. CONCLUSION : Young autistic adults without learning disabilities, and their families, may hold erroneous beliefs about autism and mental health. This may affect help seeking and contribute to an exacerbation of symptoms. GPs need to be alert to the fact that autistic young adults in their care may be experiencing mental health difficulties but may not recognise them as such.

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3. Dan Z, Mao X, Liu Q, Guo M, Zhuang Y, Liu Z, Chen K, Chen J, Xu R, Tang J, Qin L, Gu B, Liu K, Su C, Zhang F, Xia Y, Hu Z, Liu X. Altered gut microbial profile is associated with abnormal metabolism activity of Autism Spectrum Disorder. Gut microbes. 2020 : 1-22.

Autism Spectrum Disorder (ASD) is a severe neurodevelopmental disorder. To enhance the understanding of the gut microbiota structure in ASD children at different ages as well as the relationship between gut microbiota and fecal metabolites, we first used the 16S rRNA sequencing to evaluate the gut microbial population in a cohort of 143 children aged 2-13 years old. We found that the alpha-diversity of ASD group showed no significant change with age, while the TD group showed increased alpha-diversity with age, which indicates that the compositional development of the gut microbiota in ASD varies at different ages in ways that are not consistent with TD group. Recent studies have shown that chronic constipation is one of the most commonly obvious gastrointestinal (GI) symptoms along with ASD core symptoms. To further investigate the potential interaction effects between ASD and GI symptoms, the 30 C-ASD and their aged-matched TD were picked out to perform metagenomics analysis. We observed that C-ASD group displayed decreased diversity, depletion of species of Sutterella, Prevotella, and Bacteroides as well as dysregulation of associated metabolism activities, which may involve in the pathogenesis of C-ASD. Consistent with metagenomic analysis, liquid chromatography-mass spectrometry (LC/MS) revealed some of the differential metabolites between C-ASD and TD group were involved in the metabolic network of neurotransmitters including serotonin, dopamine, histidine, and GABA. Furthermore, we found these differences in metabolites were associated with altered abundance of specific bacteria. The study suggested possible future modalities for ASD intervention through targeting the specific bacteria associated with neurotransmitter metabolism.

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4. Gallyer AJ, Stanley IH, Day TN, Joiner TE. Examining the interaction of autism spectrum disorder-related traits and unit cohesion on suicide risk among military personnel. Journal of affective disorders. 2020 ; 271 : 59-65.

BACKGROUND : Suicide rates are elevated among United States (U.S.) military service members. Research has found that service members with autism spectrum disorder-related (ASD-related) traits are at increased risk for suicide. Complementary lines of inquiry have suggested that unit cohesion is a protective factor against developing suicidal ideation in military service members. However, given the social difficulties inherent in ASD, it is unclear whether unit cohesion might protect against suicide risk in this population. METHOD : Our sample consisted of 285 active duty U.S. military service members recruited online. We examined the interaction between ASD-related traits (as measured by the Autism Spectrum Quotient [AQ]), unit cohesion, and suicide risk (as measured by the Suicidal Behaviors Questionnaire-Revised [SBQ-R]). We also conducted exploratory analyses to examine whether unit cohesion attenuates the association between ASD-related traits and suicidal intent. RESULTS : Elevated ASD-related traits were independently associated with higher levels of global suicide risk ; however, unit cohesion was not independently associated with suicide risk. Unit cohesion did not significantly interact with ASD-related traits to predict suicide risk. Finally, we found that elevated ASD-related traits and unit cohesion have an independent effect on current suicidal intent. DISCUSSION : Our findings suggest that unit cohesion might not buffer the effect of ASD-related traits on suicide risk. However, our results do show that greater unit cohesion may be independently associated with decreased suicidal intent. This study is limited by a cross-sectional design and use of self-report measures.

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5. Juliano AC, Alexander AO, DeLuca J, Genova H. Feasibility of a school-based mindfulness program for improving inhibitory skills in children with autism spectrum disorder. Res Dev Disabil. 2020 ; 101 : 103641.

BACKGROUND : Executive dysfunction is prevalent in children with autism spectrum disorder (ASD), including prominent difficulties in the two facets of inhibition, as well as with selective attention. School-based mindfulness has been used in typically-developing children to improve executive functioning, though this has not been investigated in children with ASD. Therefore, the purpose of this study was to examine the efficacy of a school-based mindfulness program for improving inhibition (prepotent response inhibition and interference control) and selective attention in children with ASD. METHOD : Using a quasi-experimental, pre-post design, an eight week school-based mindfulness program (Mindful Schools ;, was administered to students with ASD (n = 27) at a private, not-for-profit school for children with special needs. The Walk/Don’t Walk test and the Color-Word Interference test were used to evaluate prepotent response inhibition and interference control, respectively. Selective attention was measured using a cancellation test. RESULTS : Significant improvements followed the intervention for prepotent response inhibition and interference control (medium effect sizes), as well as for overall selective attention (large effect size). CONCLUSIONS : The study’s findings demonstrate that school-based mindfulness holds promise for increasing specific executive functioning abilities in children with ASD.

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6. Kaat AJ, Shui AM, Ghods SS, Farmer CA, Esler AN, Thurm A, Georgiades S, Kanne SM, Lord C, Kim YS, Bishop SL. Sex differences in scores on standardized measures of autism symptoms : a multisite integrative data analysis. J Child Psychol Psychiatry. 2020.

BACKGROUND : Concerns have been raised that scores on standard measures of autism spectrum disorder (ASD) symptoms may differ as a function of sex. However, these findings are hindered by small female samples studied thus far. The current study evaluated if, after accounting for age, IQ, and language level, sex affects ASD severity estimates from diagnostic measures among children with ASD. METHODS : Data were obtained from eight sources comprising 27 sites. Linear mixed-effects models, including a random effect for site, were fit for 10 outcomes (Autism Diagnostic Observation Schedule [ADOS] domain-level calibrated severity scores, Autism Diagnostic Interview-Revised [ADI-R] raw scores by age-based algorithm, and raw scores from the two indices on the Social Responsiveness Scale [SRS]). Sex was added to the models after controlling for age, NVIQ, and an indicator for language level. RESULTS : Sex significantly improved model fit for half of the outcomes, but least square mean differences were generally negligible (effect sizes [ES] < 0.20), increasing to small to moderate in adolescence (ES < 0.40). Boys received more severe RRB scores than girls on both the ADOS and ADI-R (age 4 + algorithm), and girls received more severe scores than boys on both SRS indices, which emerged in adolescence. CONCLUSIONS : This study combined several available databases to create the largest sample of girls with ASD diagnoses. We found minimal differences due to sex beyond other known influences on ASD severity indicators. This may suggest that, among children who ultimately receive a clinical ASD diagnosis, severity estimates do not systematically differ to such an extent that sex-specific scoring procedures would be necessary. However, given the limitations inherent in clinically ascertained samples, future research must address questions about systematic sex differences among children or adults who do not receive clinical diagnoses of ASD. Moreover, while the current study helps resolve questions about widely used diagnostic instruments, we could not address sex differences in phenotypic aspects outside of these scores.

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7. Lyall K, Song L, Botteron K, Croen LA, Dager SR, Fallin MD, Hazlett HC, Kauffman E, Landa R, Ladd-Acosta C, Messinger DS, Ozonoff S, Pandey J, Piven J, Schmidt RJ, Schultz RT, Stone WL, Newschaffer CJ, Volk HE. The Association Between Parental Age and Autism-Related Outcomes in Children at High Familial Risk for Autism. Autism Res. 2020.

Advanced parental age is a well-replicated risk factor for autism spectrum disorder (ASD), a neurodevelopmental condition with a complex and not well-defined etiology. We sought to determine parental age associations with ASD-related outcomes in subjects at high familial risk for ASD. A total of 397 younger siblings of a child with ASD, drawn from existing prospective high familial risk cohorts, were included in these analyses. Overall, we did not observe significant associations of advanced parental age with clinical ASD diagnosis, Social Responsiveness Scale, or Vineland Adaptive Behavior Scales scores. Instead, increased odds of ASD were found with paternal age < 30 years (adjusted odds ratio [AOR] = 2.83 and 95% confidence intervals [CI] = 1.14-7.02). Likewise, younger age (<30 years) for both parents was associated with decreases in Mullen Scales of Early Learning early learning composite (MSEL-ELC) scores (adjusted beta = -9.62, 95% CI = -17.1 to -2.15). We also found significant increases in cognitive functioning based on MSEL-ELC scores with increasing paternal age (adjusted beta associated with a 10-year increase in paternal age = 5.51, 95% CI = 0.70-10.3). Results suggest the potential for a different relationship between parental age and ASD-related outcomes in families with elevated ASD risk than has been observed in general population samples. Autism Res 2020. (c) 2020 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Previous work suggests that older parents have a greater likelihood of having a child with autism. We investigated this relationship in the younger siblings of families who already had a child with autism. In this setting, we found a higher likelihood of autism, as well as poorer cognitive scores, in the siblings with younger fathers, and higher cognitive scores in the siblings with older parents. These results suggest that parental age associations may differ based on children’s familial risk for autism.

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8. Mayes SD, Waxmonsky JG, Baweja R, Mattison RE, Memon H, Klein M, Hameed U, Waschbusch D. Symptom scores and medication treatment patterns in children with ADHD versus autism. Psychiatry Res. 2020 ; 288 : 112937.

Most children with autism have ADHD, and children with ADHD-Combined and children with autism have high rates of irritable, oppositional, and aggressive behavior. Despite similar symptoms, prescribing practices may differ between autism and ADHD, which has not been examined in a single study. 1407 children with autism and 1036 with ADHD without autism, 2-17 years, were compared with 186 typical peers. Symptom scores were maternal Pediatric Behavior Scale ratings in eight areas (ADHD, oppositional/aggressive, irritable/angry, anxious, depressed, and social, writing, and learning problems). Psychotropics were prescribed to 38.0% with ADHD-Combined, 33.3% with autism, and 20.2% with ADHD-Inattentive, most often an ADHD medication (22.1% stimulant, 2.3% atomoxetine), antipsychotic (7.8%), SSRI (5.5%), and alpha agonist (4.9%). ADHD medications were more often prescribed than other medications in all diagnostic groups. Compared to autism, children with ADHD-Combined were more likely to be prescribed an ADHD medication, whereas antipsychotics and SSRIs were more likely to be prescribed in autism than in ADHD-Combined. Children with ADHD-Inattentive were least impaired and least likely to be medicated. More severely impaired children were more often medicated regardless of diagnosis. Symptom scores were far worse for treated and untreated children with ADHD and with autism than for typical peers.

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9. Parikh C, Iosif AM, Ozonoff S. Correction to : Brief Report : Use of the Infant-Toddler Checklist in Infant Siblings of Children with Autism Spectrum Disorder. J Autism Dev Disord. 2020.

The original version of the article unfortunately contained a mistake in the Results and Discussion section.

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10. Seernani D, Damania K, Ioannou C, Penkalla N, Hill H, Foulsham T, Kingstone A, Anderson N, Boccignone G, Bender S, Smyrnis N, Biscaldi M, Ebner-Priemer U, Klein C. Visual search in ADHD, ASD and ASD + ADHD : overlapping or dissociating disorders ?. Eur Child Adolesc Psychiatry. 2020.

Recent debates in the literature discuss commonalities between Attention-Deficit/Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD) at multiple levels of putative causal networks. This debate requires systematic comparisons between these disorders that have been studied in isolation in the past, employing potential markers of each disorder to be investigated in tandem. The present study, choose superior local processing, typical to ASD, and increased Intra-Subject Variability (ISV), typical to ADHD, for a head-to-head comparison of the two disorders, while also considering the comorbid cases. It directly examined groups of participants aged 10-13 years with ADHD, ASD with (ASD+) or without (ASD-) comorbid ADHD and a typically developing (TD) group (total N = 85). A visual search task consisting of an array of paired words was designed. The participants needed to find the specific pair of words, where the first word in the pair was the cue word. This visual search task was selected to compare these groups on overall search performance and trial-to-trial variability of search performance (i.e., ISV). Additionally, scanpath analysis was also carried out using Recurrence Quantification Analysis (RQA) and the Multi-Match Model. Results show that only the ASD- group exhibited superior search performance ; whereas, only the groups with ADHD symptoms showed increased ISV. These findings point towards a double dissociation between ASD and ADHD, and argue against an overlap between ASD and ADHD.

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11. Statter MB, Noritz G. Children With Intellectual and Developmental Disabilities as Organ Transplantation Recipients. Pediatrics. 2020.

The demand for transplantable solid organs far exceeds the supply of deceased donor organs. Patient selection criteria are determined by individual transplant programs ; given the scarcity of solid organs for transplant, allocation to those most likely to benefit takes into consideration both medical and psychosocial factors. Children with intellectual and developmental disabilities have historically been excluded as potential recipients of organ transplants. When a transplant is likely to provide significant health benefits, denying a transplant to otherwise eligible children with disabilities may constitute illegal and unjustified discrimination. Children with intellectual and developmental disabilities should not be excluded from the potential pool of recipients and should be referred for evaluation as recipients of solid organ transplants.

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12. Wenderski W, Wang L, Krokhotin A, Walsh JJ, Li H, Shoji H, Ghosh S, George RD, Miller EL, Elias L, Gillespie MA, Son EY, Staahl BT, Baek ST, Stanley V, Moncada C, Shipony Z, Linker SB, Marchetto MCN, Gage FH, Chen D, Sultan T, Zaki MS, Ranish JA, Miyakawa T, Luo L, Malenka RC, Crabtree GR, Gleeson JG. Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism. Proceedings of the National Academy of Sciences of the United States of America. 2020.

Synaptic activity in neurons leads to the rapid activation of genes involved in mammalian behavior. ATP-dependent chromatin remodelers such as the BAF complex contribute to these responses and are generally thought to activate transcription. However, the mechanisms keeping such "early activation" genes silent have been a mystery. In the course of investigating Mendelian recessive autism, we identified six families with segregating loss-of-function mutations in the neuronal BAF (nBAF) subunit ACTL6B (originally named BAF53b). Accordingly, ACTL6B was the most significantly mutated gene in the Simons Recessive Autism Cohort. At least 14 subunits of the nBAF complex are mutated in autism, collectively making it a major contributor to autism spectrum disorder (ASD). Patient mutations destabilized ACTL6B protein in neurons and rerouted dendrites to the wrong glomerulus in the fly olfactory system. Humans and mice lacking ACTL6B showed corpus callosum hypoplasia, indicating a conserved role for ACTL6B in facilitating neural connectivity. Actl6b knockout mice on two genetic backgrounds exhibited ASD-related behaviors, including social and memory impairments, repetitive behaviors, and hyperactivity. Surprisingly, mutation of Actl6b relieved repression of early response genes including AP1 transcription factors (Fos, Fosl2, Fosb, and Junb), increased chromatin accessibility at AP1 binding sites, and transcriptional changes in late response genes associated with early response transcription factor activity. ACTL6B loss is thus an important cause of recessive ASD, with impaired neuron-specific chromatin repression indicated as a potential mechanism.

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13. Zhai MY, Qiu NN, Tang CG, Weng J, Zhang LL, Feng M, Xiao X, Xiao T, Zheng WM, Ke XY. [Characteristics of vocalization in children with autism spectrum disorder during the still-face paradigm]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. 2020 ; 22(4) : 361-7.

OBJECTIVE : To study the characteristics of vocalization during the still-face paradigm (SFP) before the age of 2 years and their correlation with the severity of autism spectrum disorder (ASD) symptoms at diagnosis in children with ASD. METHODS : A total of 43 children aged 7-23 months, who were suspected of ASD, were enrolled as the suspected ASD group, and 37 typical development (TD) children, aged 7-23 months, were enrolled as the TD group. The frequency and durations of vocalization in the SFP were measured. The children in the suspected ASD group were followed up to the age of 2 years, and 34 children were diagnosed with ASD. Autism Diagnostic Observation Schedule (ADOS) was used to assess the severity of symptoms. The correlation of the characteristics of vocalization before the age of 2 years with the severity of ASD symptoms was analyzed. RESULTS : Compared with the TD group, the ASD group had significant reductions in the frequency and durations of meaningful vocalization and vocalization towards people and a significant increase in the duration of vocalization toward objects (P<0.05). The Spearman correlation analysis showed that in the ASD group, the frequency and durations of total vocalization, non-speech vocalization, babbling, vocalization towards people, and vocalization towards objects were negatively correlated with the score of communication in ADOS (P<0.05). The frequency and durations of total vocalization, babbling, and vocalization towards people and the duration of vocalization towards objects were negatively correlated with the score of reciprocal social interaction in ADOS (P<0.05). The frequency of total vocalization, the duration of babbling, and the frequency and duration of vocalization towards people were negatively correlated with the score of play in ADOS (P<0.05). The frequency of total vocalization and non-speech vocalization and the frequency and durations of vocalization towards people were negatively correlated with the score of stereotyped behaviors and restricted interests in ADOS (P<0.05). The multiple linear regression analysis showed that the frequency of total vocalization was a negative predictive factor for the score of communication in ADOS (P<0.001), and the duration of vocalization towards people was a negative predictive factor for the score of reciprocal social interaction in ADOS (P<0.05). CONCLUSIONS : SFP can better highlight the abnormal vocalization of ASD children before the age of 2 years, and such abnormalities can predict the severity of ASD symptoms early.

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14. Zhao C, Liu Y, Wang Y, Li H, Zhang B, Yue Y, Zhang J. A Chinese case of fragile X-associated tremor/ataxia syndrome (FXTAS) with orthostatic tremor:case report and literature review on tremor in FXTAS. BMC neurology. 2020 ; 20(1) : 145.

BACKGROUND : Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late onset, X-linked genetic, neurodegenerative disorder caused by a "premutation (PM)" in the fragile X mental retardation 1 (FMR1) gene. Here we report a case of FXTAS from mainland of China who presented with rare orthostatic tremor. A review of tremor of FXTAS in the literature is also included. CASE PRESENTATION : A 67-year-old right-handed farmer started with tremor of both legs 8 years ago which was present while standing but absent when sitting or lying and progressed with unsteady gait one and a half years ago. The brain MRI showed high intensity signal in the bilateral middle cerebellar peduncles (MCP) in T2-weighted and fluid-attenuated inversion recovery (FLAIR) images and gene test for premutation for FMR1 was positive with 101 CGG repeats. The patient met the the diagnosis of definite FXTAS. Clonazepam and topiramate were administered to control tremor. We reviewed the literature and identified 64 cases with detailed clinical and genetic information. Orthostatic tremor associated with FXTAS is very rare. We found 85.2% patients reported tremor,42.6% with intention tremor,36.1% with kinetic tremor,32.8% with rest tremor and 29.5% with posture tremor. 37.7% of patients who have tremor showed at least two types of tremor. There were 6 patients with isolated rest tremor. There was 2 patient with voice tremor and 6 with head tremor. We also found that 74.6% FXTAS patients had family history of FMR1 gene associated diseases including Fragile X syndrome (FXS), FXTAS or fragile X-associated primary ovarian insufficiency (FXPOI). CONCLUSIONS : Adding our data to the available literature suggests that orthostatic tremor could be a rare initial manifestation of FXTAS and the review will increasing our understanding the phenotype of tremor in FXTAS. Family history of FMR1 gene associated diseases might be an important clue to the diagnosis.

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