Pubmed du 22/05/20

vendredi 22 mai 2020

1. Al-Mendalawi MD. Prevalence of Unrecognized Autism Spectrum Disorders in Epilepsy : A Clinic-Based Study. Journal of pediatric neurosciences. 2020 ; 15(1) : 65.

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2. Andrés-Roqueta C, Katsos N. A Distinction Between Linguistic and Social Pragmatics Helps the Precise Characterization of Pragmatic Challenges in Children With Autism Spectrum Disorders and Developmental Language Disorder. Journal of speech, language, and hearing research : JSLHR. 2020 ; 63(5) : 1494-508.

Purpose Children with autism spectrum disorders (ASDs) and children with developmental language disorder (DLD) face challenges with pragmatics, but the nature and sources of these difficulties are not fully understood yet. The purpose of this study was to compare the competence of children with ASD and children with DLD in two pragmatics tasks that place different demands on theory of mind (ToM) and structural language. Method Twenty Spanish-speaking children with ASD, 20 with DLD, and 40 age- and language-matched children with neurotypical development were assessed using two pragmatics tasks : a linguistic pragmatics task, which requires competence with structural language, and a social pragmatics task, which requires competence with ToM as well. Results For linguistic pragmatics, the ASD group performed similarly to the DLD and language-matched groups, and performance was predicted by structural language. For social pragmatics, the ASD group performed lower than the DLD and language-matched groups, and performance was predicted both by structural language and ToM. Conclusions Children with ASD and children with DLD face difficulties in linguistic pragmatics tasks, in keeping with their structural language. Children with ASD face exceptional difficulties with social pragmatics tasks, due to their difficulties with ToM. The distinction between linguistic and social pragmatic competences can inform assessment and intervention for pragmatic difficulties in different populations.

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3. Bunt D, van Kessel R, Hoekstra RA, Czabanowska K, Brayne C, Baron-Cohen S, Roman-Urrestarazu A. Quotas, and Anti-discrimination Policies Relating to Autism in the EU : Scoping Review and Policy Mapping in Germany, France, Netherlands, United Kingdom, Slovakia, Poland, and Romania. Autism Res. 2020.

The low employment rates of persons with Autism Spectrum Conditions in the European Union (EU) are partly due to discrimination. Member States have taken different approaches to increase the employment rate in the recent decades, including quota and anti-discrimination legislation, however, the implications for people with autism are unknown. The purpose of this scoping review was to provide a comprehensive overview of the history of these employment policies, from seven EU Member States (Germany, France, the Netherlands, the United Kingdom [prior to exit], Slovakia, Poland, and Romania), exploring the interdependence on international and EU policies, using a path dependency analysis. The results indicate that internationally a shift in focus has taken place in the direction of anti-discrimination law, though employment quotas remained in place in six out of the seven Member States as a means to address employment of people with disability in combination with the new anti-discrimination laws. LAY SUMMARY : Discrimination is partially responsible for the low employment of people with autism. Several approaches have been taken in recent years, such as anti-discrimination laws and setting a mandatory number of people with disabilities that need to be employed. This study finds that, internationally and in the European Union, the focus was initially on the use of quotas and gradually moved to anti-discrimination, with both being used simultaneously.

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4. Carroll L, Braeutigam S, Dawes JM, Krsnik Z, Kostovic I, Coutinho E, Dewing JM, Horton CA, Gomez-Nicola D, Menassa DA. Autism Spectrum Disorders : Multiple Routes to, and Multiple Consequences of, Abnormal Synaptic Function and Connectivity. The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry. 2020 : 1073858420921378.

Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders of genetic and environmental etiologies. Some ASD cases are syndromic : associated with clinically defined patterns of somatic abnormalities and a neurobehavioral phenotype (e.g., Fragile X syndrome). Many cases, however, are idiopathic or non-syndromic. Such disorders present themselves during the early postnatal period when language, speech, and personality start to develop. ASDs manifest by deficits in social communication and interaction, restricted and repetitive patterns of behavior across multiple contexts, sensory abnormalities across multiple modalities and comorbidities, such as epilepsy among many others. ASDs are disorders of connectivity, as synaptic dysfunction is common to both syndromic and idiopathic forms. While multiple theories have been proposed, particularly in idiopathic ASDs, none address why certain brain areas (e.g., frontotemporal) appear more vulnerable than others or identify factors that may affect phenotypic specificity. In this hypothesis article, we identify possible routes leading to, and the consequences of, altered connectivity and review the evidence of central and peripheral synaptic dysfunction in ASDs. We postulate that phenotypic specificity could arise from aberrant experience-dependent plasticity mechanisms in frontal brain areas and peripheral sensory networks and propose why the vulnerability of these areas could be part of a model to unify preexisting pathophysiological theories.

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5. Cooke E, Smith V, Brenner M. Parents’ experiences of accessing respite care for children with Autism Spectrum Disorder (ASD) at the acute and primary care interface : a systematic review. BMC pediatrics. 2020 ; 20(1) : 244.

BACKGROUND : Population prevalence estimates by the World Health Organisation suggest that 1 in 160 children worldwide has an Autism Spectrum Disorder (ASD). Accessing respite care services for children with an ASD can often be a daunting and exhaustive process, with parents sometimes forced to access acute hospital services as an initial point of contact for respite care or in a crisis situation. To gain an in-depth understanding of accessing respite care for children with an ASD, from the perspectives of parents, a systematic review of the evidence on parent’s experiences and views of respite care for children with an ASD at the acute and primary interface was undertaken. METHODS : Pubmed, Embase, CINAHL and PsycINFO were systematically searched. Studies identified as relevant based on predetermined eligibility criteria were selected for inclusion. The search strategy also targeted unpublished studies and grey literature. Qualitative data and qualitative components of mixed method studies that represented the experiences of parents accessing respite care for children with an ASD were eligible for inclusion. A meta-aggregative approach was used during data synthesis. RESULTS : Database searching elicited 430 records of which 291 studies remained after removal of duplicates. These 291 studies were screened for title and abstract by two reviewers resulting in 31 studies to be screened at full text and assessed for eligibility. Six studies met the inclusion criteria and a further additional study also met the inclusion criteria during a manual search. As a result, 7 studies were selected for the review as set out in Fig. 1. CONCLUSION : In the absence of appropriate services and defined pathways to support services such as respite care, overwhelmed parents and community providers of mental health resources may not be in a position to meet the specific needs of children with an ASD and their families which may be contributing to a direct increase in hospitalizations. This systematic review identified a number of barriers to respite care, of which the findings can be used to inform future service development and further research. Knowledge of parental experiences in caring for a child with an ASD is vital in addressing the need and type of respite care required for children with an ASD. SYSTEMATIC REVIEW REGISTRATION : PROSPERO CRD42018106629.

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6. Crucitti J, Hyde C, Enticott PG, Stokes MA. Are Vermal Lobules VI-VII Smaller in Autism Spectrum Disorder ?. Cerebellum (London, England). 2020.

Cerebellar volume, in particular vermal lobule areas VI-VII, have been extensively researched in individuals with autism spectrum disorder (ASD), although findings are often unclear. The aim of the present study is to consolidate all existing cerebellar and age data of individuals with ASD, and compare this data to typically developing (TD) controls. Raw data, or the means and standard deviations of cerebellar volume and age, were obtained from 17 studies (N(Cerebellum) : 421 ASD and 370 TD participants ; N(VI-VII) : 506 ASD and 290 TD participants). Total cerebellar volume, or VI-VII area, was plotted against age and lines of fit of ASD and TD data were compared. Mean differences in cerebellar volume and VI-VII area between participants with ASD and TD participants were then compared via ANCOVA analyses. Findings revealed multiple differences in VI-VII area between participants with ASD and TD participants below 18 years of age. Additionally, cerebellar volume was greater in males with ASD than TD males between 2 and 4 years. In the present study, cerebellar volume and VI-VII area show different rates of change across age for those with autism compared with those without. These morphological differences provide a neurobiological justification to investigate related behavioural correlates.

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7. Hillier A, Buckingham A, Schena D, 2nd. Physical Activity Among Adults With Autism : Participation, Attitudes, and Barriers. Perceptual and motor skills. 2020 : 31512520927560.

Children and adolescents with autism spectrum disorder (ASD) have shown have low levels of physical fitness, increasing risks for health-related problems associated with inactivity, such as being overweight, when compared with typically developing children. Few studies have examined physical activity (PA) among adults with ASD. This U.S.-based study examined participation in and attitudes and barriers toward PA among adults with ASD and their peers without ASD. We used standardized existing scales to survey participants for data regarding their frequency of engagement in weekly PA (strenuous, moderate, light), attitudes toward PA, expectations of others, perceived behavioral control, intention toward PA, and perceived PA barriers. Findings indicated that, on average, the ASD group compared with the comparison group reported (a) less frequent strenuous or moderate PA, (b) less positive attitudes toward PA, (c) less perceived behavioral control or ease of performing PA, and (d) more PA barriers. There was also evidence that the ASD group reported less PA intent, but there was no difference between groups regarding beliefs about others’ PA expectations for them. These findings suggest a need for more PA for adults with ASD, particularly because PA has potential to attenuate such ASD challenges as anxiety, stress, and sleeping difficulties.

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8. Jones MK, Kraus N, Bonacina S, Nicol T, Otto-Meyer S, Roberts MY. Auditory Processing Differences in Toddlers With Autism Spectrum Disorder. Journal of speech, language, and hearing research : JSLHR. 2020 ; 63(5) : 1608-17.

Purpose Auditory processing measures have been used in an attempt to understand the relationship between neurological mechanisms and autism spectrum disorder (ASD) symptomatology in school-age children. The focus of the current study was to understand neural auditory processing in 2- to 3-year-olds with ASD. Method Auditory processing measures (click auditory brainstem responses and speech-evoked frequency-following responses) were hypothesized to differ between typically developing children (n = 18) and children with ASD (n = 18). Auditory processing measures were hypothesized to relate to language development in children with ASD. Results The current study found limited differences in auditory processing measures between the two groups. No relationships were found between auditory processing measures and language development measures. Conclusions Future research is necessary to characterize auditory processing in toddlers with ASD. Longitudinal approaches should be considered when studying auditory processing in children with ASD in order to explore its developmental relationship with ASD symptomatology.

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9. Kabitzke P, Morales D, He D, Cox K, Sutphen J, Thiede L, Sabath E, Hanania T, Biemans B, Brunner D. Mouse Model Systems of Autism Spectrum Disorder : Replicability and Informatics Signature. Genes, brain, and behavior. 2020 : e12676.

Phenotyping mouse model systems of human disease has proven to be a difficult task, with frequent poor inter- and intra-laboratory replicability, particularly in behavioral domains such as social and cognitive function. However, establishing robust animal model systems with strong construct validity is of fundamental importance as they are central tools for understanding disease pathophysiology and developing therapeutics. To complete our studies of mouse model systems relevant to autism spectrum disorder (ASD), we present a replication of the main findings from our two published studies of five genetic mouse model systems of ASD. To assess the intra-laboratory robustness of previous results, we chose the two model systems that showed the greatest phenotypic differences, the Shank3/F and Cntnap2, and repeated assessments of general health, activity, and social behavior. We additionally explored all five model systems in the same framework, comparing all results obtained in this three-yearlong effort using informatics techniques to assess commonalities and differences. Our results showed high intra-laboratory replicability of results, even for those with effect sizes that were not particularly large, suggesting that discrepancies in the literature may be dependent on subtle but pivotal differences in testing conditions, housing enrichment, or background strains and less so on the variability of the behavioral phenotypes. The overall informatics analysis suggests that in our behavioral assays we can separate the set of tested mouse model system into two main classes that in some aspects lie on opposite ends of the behavioral spectrum, supporting the view that autism is not a unitary concept.

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10. Luo MF, Xiao B, Zhao XL, Feng CY, Peng QL, Yao XF, Li XY, Ma LY. [Application of the Children Neuropsychological and Behavioral Scale-Revision 2016 in young children with autism spectrum disorder]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. 2020 ; 22(5) : 494-8.

OBJECTIVE : To compare the assessment results of the Children Neuropsychological and Behavioral Scale-Revision 2016 (CNBS-R2016) between young children with autism spectrum disorder (ASD) and global developmental delay (GDD, without ASD) and to explore whether CNBS-R2016 could be helpful to early identification of ASD. METHODS : A total of 260 ASD and 371 GDD children aged 18-30 months were enrolled to finish the assessment of CNBS-R2016. The development quotients (DQs) of the five domains of CNBS-R2016 including gross motor, fine motor, adaptability, language and social behavior were compared between the two groups. The receiver operating characteristic (ROC) curve was used to evaluate the value of the autism-predicted domain in identifying ASD and GDD. RESULTS : The DQs of all the five domains in the ASD group were lower than those in the GDD group (P<0.05). The language DQ and total DQ of the ASD group had a negative correlation with the score of the autism-predicted domain (r(s)=-0.566, -0.552 respectively, P<0.01). When the cut-off value of the autism-predicted domain was 10.5, the largest area under the ROC curve was 0.835, and the sensitivity and specificity for the diagnosis of ASD were 0.750 and 0.798 respectively. CONCLUSIONS : The development of ASD children aged 18-30 months is worse than that of GDD children. CNBS-R2016 may be helpful to distinguish ASD from children with developmental delay.

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11. Martinez AP, Wickham S, Rowse G, Milne E, Bentall RP. Robust association between autistic traits and psychotic-like experiences in the adult general population : epidemiological study from the 2007 Adult Psychiatric Morbidity Survey and replication with the 2014 APMS. Psychological medicine. 2020 : 1-7.

BACKGROUND : Studies have shown that there are overlapping traits and symptoms between autism and psychosis but no study to date has addressed this association from an epidemiological approach in the adult general population. Furthermore, it is not clear whether autistic traits are associated with specific symptoms of psychosis or with psychosis in general. We assess these associations for the first time by using the Adult Psychiatric Morbidity Survey (APMS) 2007 and the APMS 2014, predicting an association between autistic traits and probable psychosis, and specific associations between autistic traits and paranoia and strange experiences. METHODS : Participants (N = 7353 in 2007 and 7500 in 2014) completed the Psychosis Screening Questionnaire (PSQ) and a 20-item version of the Autism Quotient (AQ-20). Binomial logistic regressions were performed using AQ-20 as the independent variable and probable psychosis and specific symptoms as dependent variables. RESULTS : In the APMS 2007 dataset, significant associations were found between autism traits and probable psychosis, paranoia, thought insertion, and strange experiences. These results were replicated in APMS 2014 but with the additional significant association between autistic traits and hallucinations. Participants in the highest quartile of the AQ-20, compared with the lowest quartile, had an increased risk of probable psychosis of odds ratio (OR) = 15.5 [95% confidence interval (CI) 4.57-52.6] in APMS 2007 and OR = 22.5 (95% CI 7.64-66.3) in APMS 2014. CONCLUSIONS : Autistic traits are strongly associated with probable psychosis and psychotic experiences with the exception of mania. Limitations such as the cross-sectional nature of the study are discussed.

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12. McCamphill PK, Stoppel LJ, Senter RK, Lewis MC, Heynen AJ, Stoppel DC, Sridhar V, Collins KA, Shi X, Pan JQ, Madison J, Cottrell JR, Huber KM, Scolnick EM, Holson EB, Wagner FF, Bear MF. Selective inhibition of glycogen synthase kinase 3α corrects pathophysiology in a mouse model of fragile X syndrome. Science translational medicine. 2020 ; 12(544).

Fragile X syndrome is caused by FMR1 gene silencing and loss of the encoded fragile X mental retardation protein (FMRP), which binds to mRNA and regulates translation. Studies in the Fmr1(-/y) mouse model of fragile X syndrome indicate that aberrant cerebral protein synthesis downstream of metabotropic glutamate receptor 5 (mGluR5) signaling contributes to disease pathogenesis, but clinical trials using mGluR5 inhibitors were not successful. Animal studies suggested that treatment with lithium might be an alternative approach. Targets of lithium include paralogs of glycogen synthase kinase 3 (GSK3), and nonselective small-molecule inhibitors of these enzymes improved disease phenotypes in a fragile X syndrome mouse model. However, the potential therapeutic use of GSK3 inhibitors has been hampered by toxicity arising from inhibition of both α and β paralogs. Recently, we developed GSK3 inhibitors with sufficient paralog selectivity to avoid a known toxic consequence of dual inhibition, that is, increased β-catenin stabilization. We show here that inhibition of GSK3α, but not GSK3β, corrected aberrant protein synthesis, audiogenic seizures, and sensory cortex hyperexcitability in Fmr1(-/y) mice. Although inhibiting either paralog prevented induction of NMDA receptor-dependent long-term depression (LTD) in the hippocampus, only inhibition of GSK3α impaired mGluR5-dependent and protein synthesis-dependent LTD. Inhibition of GSK3α additionally corrected deficits in learning and memory in Fmr1(-/y) mice ; unlike mGluR5 inhibitors, there was no evidence of tachyphylaxis or enhanced psychotomimetic-induced hyperlocomotion. GSK3α selective inhibitors may have potential as a therapeutic approach for treating fragile X syndrome.

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13. McDaniel J, Yoder P, Estes A, Rogers SJ. Predicting Expressive Language From Early Vocalizations in Young Children With Autism Spectrum Disorder : Which Vocal Measure Is Best ?. Journal of speech, language, and hearing research : JSLHR. 2020 ; 63(5) : 1509-20.

Purpose This study was designed to test the incremental validity of more expensive vocal development variables relative to less expensive variables for predicting later expressive language in children with autism spectrum disorder (ASD). We devote particular attention to the added value of coding the quality of vocalizations over the quantity of vocalizations because coding quality adds expense to the coding process. We are also interested in the added value of more costly human-coded vocal variables relative to those generated through automated analyses. Method Eighty-seven children with ASD aged 13-30 months at study initiation participated. For quantity of vocalizations, we derived one variable from human coding of brief communication samples and one from an automated process for daylong naturalistic audio samples. For quality of vocalizations, we derived four human-coded variables and one automated variable. A composite expressive language measure was derived at study entry, and 6 and 12 months later. The 12 months-centered intercept of a simple linear growth trajectory was used to quantify later expressive language. Results When statistically controlling for human-coded or automated quantity of vocalization variables, human-coded quality of vocalization variables exhibited incremental validity for predicting later expressive language skills. Human-coded vocal variables also predicted later expressive language skills when controlling for the analogous automated vocal variables. Conclusion In sum, these findings support devoting resources to human coding of the quality of vocalizations from communication samples to predict later expressive language skills in young children with ASD despite the greater costs of deriving these variables. Supplemental Material https://doi.org/10.23641/asha.12276458.

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14. Morimoto M, Hashimoto T, Tsuda Y, Nakatsu T, Kitaoka T, Kyotani S. Assessment of oxidative stress in autism spectrum disorder using reactive oxygen metabolites and biological antioxidant potential. PLoS One. 2020 ; 15(5) : e0233550.

There are several studies on oxidative stress of Autism Spectrum Disorder (ASD), but in these cases there is no study to measure oxidative stress and antioxidant capacity at the same time or studies considering childhood development. Therefore, this study comprehensively assessed the level of oxidative stress in ASD children by simultaneously measuring reactive oxygen metabolites (d-ROMs) and biological antioxidant potential (BAP). The subjects were Japanese, 77 typical development (TD) children, 98 ASD children, samples were plasma. The subjects were divided into age groups : toddlers/preschool age (2-6 years) and school age (7-15 years), to compare the relationships among the d-ROMs levels and BAP/d-ROMs ratios. Furthermore, the correlations between the Parent-interview ASD Rating Scales (PARS) scores and the measured values were analyzed. The levels of d-ROMs were significantly higher in the ASD (7-15 years) than in TD (7-15 years). The PARS scores were significantly higher in the ASD and were significantly correlated with d-ROMs levels. These results suggested that d-ROMs and BAP/d-ROMs ratios could be objective, measured indicators that could be used in clinical practice to assess stress in ASD children.

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15. Ribeiro MC, Moore SM, Kishi N, Macklis JD, MacDonald JL. Vitamin D Supplementation Rescues Aberrant NF-κB Pathway Activation and Partially Ameliorates Rett Syndrome Phenotypes in Mecp2 Mutant Mice. eNeuro. 2020 ; 7(3).

Rett syndrome (RTT) is a severe, progressive X-linked neurodevelopmental disorder caused by mutations in the transcriptional regulator MECP2 We previously identified aberrant NF-κB pathway upregulation in brains of Mecp2-null mice and demonstrated that genetically attenuating NF-κB rescues some characteristic neuronal RTT phenotypes. These results raised the intriguing question of whether NF-κB pathway inhibitors might provide a therapeutic avenue in RTT. Here, we investigate whether the known NF-κB pathway inhibitor vitamin D ameliorates neuronal phenotypes in Mecp2-mutant mice. Vitamin D deficiency is prevalent among RTT patients, and we find that Mecp2-null mice similarly have significantly reduced 25(OH)D serum levels compared with wild-type littermates. We identify that vitamin D rescues aberrant NF-κB pathway activation and reduced neurite outgrowth of Mecp2 knock-down cortical neurons in vitro Further, dietary supplementation with vitamin D in early symptomatic male Mecp2 hemizygous null and female Mecp2 heterozygous mice ameliorates reduced neocortical dendritic morphology and soma size phenotypes and modestly improves reduced lifespan of Mecp2-nulls. These results elucidate fundamental neurobiology of RTT and provide foundation that NF-κB pathway inhibition might be a therapeutic target for RTT.

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16. Richards J, Milne R. Appropriate adults : Their experiences and understanding of Autism Spectrum Disorder. Res Dev Disabil. 2020 ; 103 : 103675.

An appropriate adult (AA) is required by law, to support juveniles and vulnerable adults during custody procedures. This paper explored the opinions and knowledge of AAs and how the characteristics of Autism Spectrum Disorder (ASD) could disadvantage an individual within a police interview. A questionnaire was administered to AAs who had received training to carry out their duties (N = 55). AAs were asked a number of questions concerning suspects with ASD. Overall, the questionnaire found that AAs had some awareness of the key features of ASD. However, AAs were less aware of the possible impact these characteristics could have upon the interview process. Nevertheless, when asked about actual practice, fifteen incidents were reported where it was deemed that the characteristics of ASD disrupted interview procedures. For example, it was reported that suspects with ASD displayed repetitive and rigid behaviour patterns that interfered with the flow of the interview. Encouragingly, the self-reported data suggested that AAs were able to respond effectively to these actual incidents. That withstanding it is suggested that AA training should include information about how those with ASD might be at a disadvantage within the forensic interview environment and outline strategies that AAs could use to help a person with ASD fully engage within the criminal justice process.

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17. Sandbank M, Bottema-Beutel K, Crowley S, Cassidy M, Feldman JI, Canihuante M, Woynaroski T. Intervention Effects on Language in Children With Autism : A Project AIM Meta-Analysis. Journal of speech, language, and hearing research : JSLHR. 2020 ; 63(5) : 1537-60.

Purpose This study synthesized effects of interventions on language outcomes of young children (ages 0-8 years) with autism and evaluated the extent to which summary effects varied by intervention, participant, and outcome characteristics. Method A subset of effect sizes gathered for a larger meta-analysis (the Autism Intervention Meta-analysis or Project AIM) examining the effects of interventions for young children with autism, which were specific to language outcomes, was analyzed. Robust variance estimation and metaregression were used to calculate summary and moderated effects while controlling for intercorrelation among outcomes within studies. Results A total of 221 outcomes were gathered from 60 studies. The summary effect of intervention on language outcomes was small but significant. Summary effects were larger for expressive and composite language outcomes compared to receptive language outcomes. Interventions implemented by clinicians, or by clinicians and caregivers together, had summary effects that were significantly larger than interventions implemented by caregivers alone. Participants’ pretreatment language age equivalent scores positively and significantly moderated intervention effects, such that effects were significantly larger on average when samples of children had higher pretreatment language levels. Effects were not moderated by cumulative intervention intensity, intervention type, autism symptomatology, chronological age, or the proximity or boundedness of outcomes. Study quality concerns were apparent for a majority of included outcomes. Conclusions We found evidence that intervention can facilitate improvements in language outcomes for young children with autism. Effects were largest for expressive and composite language outcomes, for children with initially higher language abilities, and for interventions implemented by clinicians or by caregivers and clinicians combined. However, quality concerns of included studies and borderline significance of some results temper our conclusions regarding intervention effectiveness and corresponding moderators.

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18. Servili E, Trus M, Sajman J, Sherman E, Atlas D. Elevated basal transcription can underlie timothy channel association with autism related disorders. Progress in neurobiology. 2020 : 101820.

Timothy syndrome (TS) is a neurodevelopmental disorder caused by mutations in the pore-forming subunit α(1)1.2 of the L-type voltage-gated Ca(2+)-channel Cav1.2, at positions G406R or G402S. Although both mutations cause cardiac arrhythmias, only Cav1.2(G406R) is associated with the autism-spectrum-disorder (ASD). We show that transcriptional activation by Cav1.2(G406R) is driven by membrane depolarization through the Ras/ERK/CREB pathway in a process called excitation-transcription (ET) coupling, and requires interaction of the intracellular β-subunit similar to wt Cav1.2. Also the non-autistic mutated channel Cav1.2(G402S) mediates ET coupling through the Ras/ERK/CREB pathway. However, only the autism-associated mutant Cav1.2(G406R), exhibits a depolarization-independent CREB phosphorylation, and spontaneous transcription of cFos and MeCP2. The leftward voltage-shift typical of Cav1.2(G406R) activation increases channel opening at subthreshold potentials, and results in enhanced channel activity, in contrast to the rightward shift caused by Cav1.2(G402S). We suggest that the enhanced Cav1.2(G406R) activity at rest could account for the high basal transcriptional activation. This constitutive transcriptional activation, which leads to uncontrolled gene activity, may result in the manifestation of autism and other long-term dysregulations. Thus, gating changes provide a mechanistic framework for understanding the molecular events underlying the autistic phenomena caused by the G406R Timothy mutation.

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19. Skalny AV, Mazaletskaya AL, Ajsuvakova OP, Bjørklund G, Skalnaya MG, Notova SV, Chernova LN, Skalny AA, Burtseva TI, Tinkov AA. Hair trace element concentrations in autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD). Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS). 2020 ; 61 : 126539.

BACKGROUND : The existing data demonstrate that alteration of trace element and mineral status in children with neurodevelopmental disorders including ASD and ADHD. However, comparative analysis of the specific patterns of trace element and mineral metabolism in children with ASD and ADHD was not performed. Therefore, the primary objective of the present study was to assess hair trace element and mineral levels in boys with ADHD, ASD, as well as ADHD with ASD. METHODS : Boys with ADHD (n = 52), ASD (n = 53), both ADHD and ASD (n = 52), as well as neurotypical controls (n = 52) were examined. Hair analysis was performed using inductively-coupled plasma mass-spectrometry. RESULTS : The obtained data demonstrate that hair Co, Mg, Mn, and V levels were significantly reduced in children with ADHD and ASD, and especially in boys with ADHD + ASD. Hair Zn was found to be reduced by 20% (p = 0.009) only in children with ADHD + ASD as compared to healthy controls. Factor analysis demonstrated that ASD was associated with significant alteration of hair Co, Fe, Mg, Mn, and V levels, whereas impaired hair Mg, Mn, and Zn content was also significantly associated with ADHD. In regression models hair Zn and Mg were negatively associated with severity of neurodevelopmental disorders. The revealed similarity of trace element and mineral disturbances in ASD and ADHD may be indicative of certain similar pathogenetic features. CONCLUSION : The obtained data support the hypothesis that trace elements and minerals, namely Mg, Mn, and Zn, may play a significant role in development of both ADHD and ASD. Improvement of Mg, Mn, and Zn status in children with ASD and ADHD may be considered as a nutritional strategy for improvement of neurodevelopmental disturbances, although clinical trials and experimental studies are highly required to support this hypothesis.

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20. Su LD, Xu FX, Wang XT, Cai XY, Shen Y. Cerebellar Dysfunction, Cerebro-cerebellar Connectivity and Autism Spectrum Disorders. Neuroscience. 2020.

The cerebellum has long been conceptualized to control motor learning and motor coordination. However, increasing evidence suggests its roles in cognition and emotion behaviors. In particular, the cerebellum has been recognized as one of key brain regions affected in autism spectrum disorder (ASD). To better understand the contribution of the cerebellum in ASD pathogenesis, we here discuss recent behavioral, genetic, and molecular studies from the human and mouse models. In addition, we raise several questions that need to be investigated in future studies from the point view of cerebellar dysfunction, cerebro-cerebellar connectivity and ASD.

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21. Vlaeminck F, Vermeirsch J, Verhaeghe L, Warreyn P, Roeyers H. Predicting cognitive development and early symptoms of autism spectrum disorder in preterm children : The value of temperament and sensory processing. Infant Behav Dev. 2020 ; 59 : 101442.

This study was the first to longitudinally explore the extent to which early temperament and sensory processing were of predictive value for cognitive development and Autism Spectrum Disorder (ASD) symptomatology in a sample of preterm children (N = 50, 22 girls, mean gestational age 27 weeks). At the corrected ages of 10, 18, and 24 months, sensory processing and temperament were assessed, as were cognitive development and ASD symptoms at 36 months. Better cognitive development was predicted by fewer hospitalisation days at birth and by lower Activity Level at 18 months. Temperamental subscales of Negative Affect showed associations with both parent-reported and observational measures of ASD symptomatology, whereas sensory processing only had predictive value for parent-reported symptoms of ASD. The usefulness of temperament and sensory processing for prediction of ASD symptom severity and cognitive outcomes became clear in the second year of life. The results indicate that this area of research is worth additional investigation in the extreme and very preterm population, to explore in further detail whether these two concepts might be able to provide information about which preterms are more likely to develop ASD or cognitive impairments.

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22. Yokoi T, Enomoto Y, Naruto T, Kurosawa K, Higurashi N. Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder. Human genome variation. 2020 ; 7 : 15.

Tatton-Brown-Rahman syndrome is a congenital anomaly syndrome that manifests with overgrowth, macrocephaly, and characteristic facial features. This autosomal dominant disease is caused by a germline mutation in DNMT3A. Some patients with this syndrome develop mild to severe intellectual disability, which is sometimes accompanied by autism spectrum disorder or other developmental disorders. We report a Japanese patient with severe intellectual disability and autism spectrum disorder with a de novo mutation in the active domain of DNMT3A.

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Formations pour les Familles et les Proches

le détail des programmes de formation à l’attention des familles et des proches de personnes avec TSA est disponible en cliquant sur l’image ci-dessous.

Formation pour les Aidants Familiaux {JPEG}


Sensibilisation à l’usage des tablettes au CRA !

Toutes les informations concernant les sensibilisations du CRA aux tablettes numériques en cliquant sur l’image ci-dessous :


1-Formation à l’état des connaissances de l’autisme

Plus d’information sur la formation gratuite que dispense le CRA en cliquant sur l’image ci-dessous :

Formation à l'état des connaissances de l'autisme {JPEG}


4-Accéder au Livret Autisme Auvergne Rhône-Alpes (LAARA)

Prenez connaissance du Livret Autisme Auvergne Rhône-Alpes, projet de répertoire régional des structures médico-sociales. En cliquant sur l’image ci-dessous :

Cliquer pour accéder au LAARA