Pubmed du 02/07/20

jeudi 2 juillet 2020

1. Ben-Itzchak E, Koller J, Zachor DA. Characterization and Prediction of Anxiety in Adolescents with Autism Spectrum Disorder : A Longitudinal Study. J Abnorm Child Psychol ;2020 (Jul 2)

Anxiety is one of the most common comorbidities in youth with autism spectrum disorder (ASD). The current study’s aims were : To examine the frequency of elevated anxiety symptoms in adolescents diagnosed with ASD in toddlerhood ; To explore the impact of comorbid anxiety in adolescents on clinical presentation ; To evaluate variables in toddlerhood that associate with anxiety symptom severity in adolescence. The study included 61 adolescents (mean age = 13:8y) diagnosed with ASD in toddlerhood (T1). Participants underwent a comprehensive assessment of cognitive ability, adaptive skills and autism severity at T1 and again as adolescents (T2), and an evaluation of anxiety symptoms at T2. For the first aim, the most prevalent anxiety subtypes noted in adolescence were separation (39.3%), social (27.9%) and generalized anxiety (18.0%). For the second aim, cognitive ability, autism severity and adaptive skills in adolescents with and without elevated anxiety symptoms scores of any type did not differ significantly. For the third aim, younger age at adolescence was associated with more severe separation and generalized anxiety symptoms. Higher cognitive ability and adaptive skills in toddlerhood were associated with elevated generalized anxiety symptoms in adolescence. Lower adaptive behaviors and repetitive behaviors (RRBs) correlated with elevated social anxiety symptoms. Lower cognitive abilities and more severe RRBs in toddlerhood predicted separation anxiety in adolescence. The study sheds light on early characteristics in ASD that associate with anxiety symptom severity in adolescence. The type of elevated anxiety symptoms presented in adolescence associated with the level of cognitive ability, adaptive skills and RRBs in toddlerhood.

Lien vers le texte intégral (Open Access ou abonnement)

2. Bordini D, Paula CS, Cunha GR, Caetano SC, Bagaiolo LF, Ribeiro TC, Martone MCC, Portolese J, Moya AC, Brunoni D, Bosa C, Brentani H, Cogo-Moreira H, de Jesus Mari J. A randomised clinical pilot trial to test the effectiveness of parent training with video modelling to improve functioning and symptoms in children with autism spectrum disorders and intellectual disability. J Intellect Disabil Res ;2020 (Jun 30)

BACKGROUND : Poor eye contact and joint attention are early signs of autism spectrum disorder (ASD) and important prerequisites for developing other socio-communicative skills. Teaching parents evidence-based techniques to improve these skills can impact the overall functioning of children with ASD. We aimed to analyse the impact of conducting a group parent-training intervention with video modelling to improve the intelligent quotient (IQ), social and communication functioning and to minimise symptoms in children with ASD and intellectual disability (ID). METHODS : Study design : A multicentre, single-blinded, randomised clinical pilot trial of parent training using video modelling was conducted. SAMPLE : Sixty-seven parents of children with ASD, aged between 3 and 6 years and with IQs between 50 and 70, were randomised : 34 to the intervention group and 33 to the control group. Intervention program : The intervention group received parent training over 22 sessions, and the control group received the standard community treatment. INSTRUMENTS : Pre-evaluation and post-evaluation (week 28), the following were used : Autism Diagnostic Interview, Vineland Adaptive Behaviour Scale I, Snijders-Oomen Nonverbal Intelligence Test, Autism Behaviour Checklist and Hamilton Depression Rating Scale. DATA ANALYSIS : Intention to treat and complier-average causal effect (CACE) were used to estimate the effects of the intervention. RESULTS : There was a statistically significant improvement in the Vineland standardized communication scores in CACE (Cohen’s d = 0.260). There was a non-statistically significant decrease in autism symptomatology (Autism Behaviour Checklist total scores) and a significant increase in the non-verbal IQ in the intervention group. After the false discovery rate correction was applied, IQ remained statistically significant under both paradigms. The effect size for this adjusted outcome under the intention-to-treat paradigm was close to 0.4, and when considering adherence (CACE), the effect sizes were more robust (IQ’s Cohen’s d = 0.433). CONCLUSIONS : Parent training delivered by video modelling can be a useful technique for improving the care given to children with ASD and ID, particularly in countries that lack specialists.

Lien vers le texte intégral (Open Access ou abonnement)

3. Britton TC, Wilkinson EH, Hall SS. Examining the Specificity of Forms and Functions of Aggressive Behavior in Boys With Fragile X Syndrome. Am J Intellect Dev Disabil ;2020 (Jul 1) ;125(4):247-259.

Limited information is available concerning the specificity of the forms and functions of aggressive behavior exhibited by boys with fragile X syndrome (FXS). To investigate these relationships, we conducted indirect functional assessments of aggressive behavior exhibited by 41 adolescent boys with FXS and 59 age and symptom-matched controls with intellectual and developmental disability (IDD) and compared the data between groups. Results showed that boys with FXS were more likely to exhibit specific forms of aggressive behavior (i.e., scratching others and biting others) compared to controls, but the sources of reinforcement identified for aggression were similar across groups. Boys with FXS who were prescribed psychotropic medications were more likely to be older and to exhibit more forms of aggression. The implications for the treatment of aggressive behavior during this critical developmental period in FXS are discussed.

Lien vers le texte intégral (Open Access ou abonnement)

4. Chasson GS, Eskow KG, Summers JA, Dreher TM. Characterization of Family-Directed Care Coordination and Involvement in Behavioral Treatments in an Autism-Specific Medicaid Waiver. J Autism Dev Disord ;2020 (Jul 2)

Services for children with autism spectrum disorder (ASD) and their families have evolved with the advent of the Medicaid waiver, leading to more family-based coordination of care. Evaluating family involvement, the current investigation compared 230 families of children with ASD receiving Medicaid waiver services to a propensity-score matched group of 230 families who were waiting for such services (i.e., registry families). Compared to the registry, waiver families reported more involvement in service planning tasks, but not activities related to future-planning, managing crisis situations, or searching for and securing funding. Additional analyses characterize waiver families as engaging in high levels of coordinating and delivering behavioral interventions for their child. Implications for family burden and future programming for waiver programs are discussed.

Lien vers le texte intégral (Open Access ou abonnement)

5. 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.

Lien vers le texte intégral (Open Access ou abonnement)

6. Cooper R, Cooper K, Russell AJ, Smith LGE. "I’m Proud to be a Little Bit Different" : The Effects of Autistic Individuals’ Perceptions of Autism and Autism Social Identity on Their Collective Self-esteem. J Autism Dev Disord ;2020 (Jun 30)

This study aimed to identify the attributes that autistic people perceive as positively and negatively impacting on their identity and wellbeing. In Study 1, we recruited 140 autistic participants for an online survey. Participants completed autism social identification and collective self-esteem measures and listed attributes they associated with autism. In Study 2, we conducted focus groups with 15 autistic people to explore how positively they perceived the attributes of autism. Participants then discussed the autism attributes in relation to their own experiences and identity. We found a positive relationship between the number of positive attributes participants associated with autism, and their collective self-esteem, to the extent that they identified with other autistic people.

Lien vers le texte intégral (Open Access ou abonnement)

7. Cummins C, Pellicano E, Crane L. Autistic adults’ views of their communication skills and needs. Int J Lang Commun Disord ;2020 (Jul 2)

BACKGROUND : Autistic people require varying levels of support at different stages of their lives. Yet, the healthcare needs of autistic adults are largely unmet. Speech and language therapy (SLT) is one healthcare service that has an important role in supporting autistic people : both with initial diagnosis, and with the ongoing support needed to navigate different communicative challenges across the lifespan. Despite recommendations for such support, currently there is no clear SLT pathway for autistic adults, and a lack of established approaches to support autistic adults’ speech, language and communication needs. AIMS : To seek autistic adults’ views on (1) their communication skills and support needs ; (2) the type of support SLT could offer ; and (3) how such support could be provided. METHODS & PROCEDURES : A total of 18 autistic adults were interviewed in their preferred mode of communication (e.g., face to face, phone call, text messaging, e-mail), expressing their views on their communication skills and needs. Interview data were analysed using thematic analysis. OUTCOMES & RESULTS : Autistic adults presented complex views on communication, identifying the benefits of communication, while also emphasizing the significant negative impact that communication difficulties can have on their everyday lives. Identifying a range of internal (e.g., personal feelings) and external (e.g., the communication partner) factors, they highlighted the need for support at both individual levels (for specific life situations) and broader societal levels (to increase awareness and acceptance of communication difficulties). CONCLUSIONS & IMPLICATIONS : Considering the negative impact that communication difficulties can have for autistic adults, a need for support was emphasized. Despite recognition of this need within current legislation (in the UK) and positive steps toward providing support, more needs to be done. As experts in supporting individuals with communication difficulties, speech and language therapists could play a pivotal role in providing support at an individual level, as well as increasing awareness of communication differences more widely. What this paper adds What is already known on this subject There is a growing population of autistic adults with unmet support needs. A core characteristic of autism is difficulty with neurotypical social communication and interaction, which persists into adulthood and impacts across various life domains. What this paper adds to existing knowledge Autistic adults outlined the types of communication difficulties they experience, and how these can negatively impact on physical and mental health. Results highlight how these difficulties are not just rooted within the person themselves but can be influenced by external factors (e.g., the environment and the communication partner). What are the potential or actual clinical implications of this work ? Some autistic adults may benefit from direct support from SLT services. However, increased awareness and respect for communication differences at a broader societal level is also needed. Speech and language therapists can play an important role in increasing this level of awareness, positively highlighting differences in communication and ways to support people with communication difficulties/differences.

Lien vers le texte intégral (Open Access ou abonnement)

8. Dell’Osso L, Carpita B, Cremone IM, Mucci F, Salerni A, Marazziti D, Carmassi C, Gesi C. Subthreshold Autism Spectrum in a Patient with Anorexia Nervosa and Behçet’s Syndrome. Case Rep Psychiatry ;2020 ;2020:6703979.

Recently, increasing research stressed the presence of subthreshold autistic traits in patients with other psychiatric conditions. In this framework, a significant relationship between anorexia nervosa (AN) and the autism spectrum has been frequently reported, in particular among female samples, to the point that AN has been hypothesized to be a female phenotype of autism spectrum disorder (ASD). On the other hand, among subjects with ASD has been reported a higher prevalence of immune diseases and altered immune functions. While these reports seem to support an association between neurodevelopmental and immune system alterations in ASD, the relationship between the immune system and the broader autism spectrum, including its subthreshold manifestations, remains poorly investigated. In this report, we described the presence of autistic traits in a male inpatient with AN and separation anxiety disorder, who also show a diagnosis of Behçet’s syndrome (BS). This case seems to further stress the association between AN and the autism spectrum, which may not be limited to the female gender. Moreover, it further suggests a deeper link between neurodevelopmental and immune system alterations. Implications are discussed in light of the more recent neurobiological and psychopathological hypothesis about the autism spectrum.

Lien vers le texte intégral (Open Access ou abonnement)

9. Doherty AJ, Atherton H, Boland P, Hastings R, Hives L, Hood K, James-Jenkinson L, Leavey R, Randell E, Reed J, Taggart L, Wilson N, Chauhan U. Barriers and facilitators to primary health care for people with intellectual disabilities and/or autism : an integrative review. BJGP Open ;2020 (Jun 30)

BACKGROUND : Globally, people with intellectual disabilities and/or autism experience health inequalities. Death occurs at a younger age and the prevalence of long-term morbidities is higher than in the general population. Despite this, their primary healthcare access rates are lower than the general population, their health needs are often unmet, and their views and experiences are frequently overlooked in research, policy, and practice. AIM : To investigate the barriers and facilitators reported by individuals with intellectual disabilities, autism, or both, and/or their carers, to accessing and utilising primary health care for their physical and mental health needs. DESIGN & SETTING : An integrative review was undertaken, which used systematic review methodology. METHOD : Electronic databases MEDLINE, Embase, CINAHL (Cumulative Index to Nursing and Allied Health Literature), and Cochrane were searched for relevant studies (all languages) using a search strategy. Two researchers independently screened the results and assessed the quality of the studies. RESULTS : Sixty-three international studies were identified. Six main themes relating to barriers and facilitators emerged from an analysis of these studies. The main themes were : training ; knowledge and awareness ; communication ; fear and embarrassment ; involvement in healthcare decision-making ; and time. All the themes were underpinned by the need for greater care, dignity, respect, collaborative relationships, and reasonable adjustments. Opposing barriers and facilitators were identified within each of the main themes. CONCLUSION : Adolescents and adults with intellectual disabilities and/or autism experience several barriers to accessing and utilising primary health care. The findings highlight the reasonable adjustments and facilitators that can be implemented to ensure that these individuals are not excluded from primary health care.

Lien vers le texte intégral (Open Access ou abonnement)

10. Dong Q, Kim J, Nguyen L, Bu Q, Chang Q. An astrocytic influence on impaired tonic inhibition in hippocampal CA1 pyramidal neurons in a mouse model of Rett syndrome. J Neurosci ;2020 (Jul 2)

Rett syndrome (RTT) is a severe neurodevelopmental disease caused by mutations in the methyl-CpG binding protein 2 (MECP2) gene. Although altered interneuron development and function are clearly demonstrated in RTT mice, a particular mode of inhibition, tonic inhibition, has not been carefully examined. We report here that tonic inhibition is significantly reduced in pyramidal neurons in the CA1 region of the hippocampus in mice where Mecp2 is deleted either in all cells or specifically in astrocytes. Since no change is detected in the level of GABA receptors, such a reduction in tonic inhibition is likely a result of decreased ambient GABA level in the extracellular space. Consistent with this explanation, we observed increased expression of a GABA transporter, GAT-3, in the hippocampus of the Mecp2 knockout (KO) mice, as well as a corresponding increase of GAT-3 current in hippocampal astrocytes. These phenotypes are relevant to RTT, because pharmacological blockage of GAT-3 can normalize tonic inhibition and intrinsic excitability in CA1 pyramidal neurons, and rescue the phenotype of increased network excitability in acute hippocampal slices from the Mecp2 KO mice. Finally, chronic administration of a GAT-3 antagonist improved a composite symptom score and extended lifespan in the Mecp2 KO mice. Only male mice were used in this study. These results not only advance our understanding of RTT etiology by defining a new neuronal phenotype and revealing how it can be influenced by astrocytic alterations, but also reveal potential targets for intervention.Significance StatementOur study reports a novel phenotype of reduced tonic inhibition in hippocampal CA1 pyramidal neurons in the Rett syndrome (RTT) mice, reveal a potential mechanism of increased GABA transporter expression/activity in the neighboring astrocytes, describe a disease-relevant consequence in hyperexcitability, and provide preliminary evidence that targeting this phenotype may slow down disease progression in RTT mice. These results help our understanding of the disease etiology and identify a new therapeutic target for treating Rett syndrome.

Lien vers le texte intégral (Open Access ou abonnement)

11. Dunham K, Feldman JI, Liu Y, Cassidy M, Conrad JG, Santapuram P, Suzman E, Tu A, Butera I, Simon DM, Broderick N, Wallace MT, Lewkowicz D, Woynaroski TG. Stability of Variables Derived From Measures of Multisensory Function in Children With Autism Spectrum Disorder. Am J Intellect Dev Disabil ;2020 (Jul 1) ;125(4):287-303.

Children with autism spectrum disorder (ASD) display differences in multisensory function as quantified by several different measures. This study estimated the stability of variables derived from commonly used measures of multisensory function in school-aged children with ASD. Participants completed : a simultaneity judgment task for audiovisual speech, tasks designed to elicit the McGurk effect, listening-in-noise tasks, electroencephalographic recordings, and eye-tracking tasks. Results indicate the stability of indices derived from tasks tapping multisensory processing is variable. These findings have important implications for measurement in future research. Averaging scores across repeated observations will often be required to obtain acceptably stable estimates and, thus, to increase the likelihood of detecting effects of interest, as it relates to multisensory processing in children with ASD.

Lien vers le texte intégral (Open Access ou abonnement)

12. Genç Ö, An JY, Fetter RD, Kulik Y, Zunino G, Sanders SJ, Davis GW. Homeostatic plasticity fails at the intersection of autism-gene mutations and a novel class of common genetic modifiers. Elife ;2020 (Jul 1) ;9

We identify a set of common phenotypic modifiers that interact with five independent autism gene orthologs (RIMS1, CHD8, CHD2, WDFY3, ASH1L) causing a common failure of presynaptic homeostatic plasticity (PHP) in Drosophila. Heterozygous null mutations in each autism gene are demonstrated to have normal baseline neurotransmission and PHP. However, PHP is sensitized and rendered prone to failure. A subsequent electrophysiology-based genetic screen identifies the first known heterozygous mutations that commonly genetically interact with multiple ASD gene orthologs, causing PHP to fail. Two phenotypic modifiers identified in the screen, PDPK1 and PPP2R5D, are characterized. Finally, transcriptomic, ultrastructural and electrophysiological analyses define one mechanism by which PHP fails ; an unexpected, maladaptive up-regulation of CREG, a conserved, neuronally expressed, stress response gene and a novel repressor of PHP. Thus, we define a novel genetic landscape by which diverse, unrelated autism risk genes may converge to commonly affect the robustness of synaptic transmission.

Lien vers le texte intégral (Open Access ou abonnement)

13. Gudbrandsen M, Mann C, Bletsch A, Daly E, Murphy CM, Stoencheva V, Blackmore CE, Rogdaki M, Kushan L, Bearden CE, Murphy DGM, Craig MC, Ecker C. Corrigendum to : Patterns of Cortical Folding Associated with Autistic Symptoms in Carriers and Noncarriers of the 22q11.2 Microdeletion. Cereb Cortex ;2020 (Jul 1)

Lien vers le texte intégral (Open Access ou abonnement)

14. Khalil M, Azouz HG, Ahmed SA, Gad HA, Omar OM. Sensory Processing and Gastrointestinal Manifestations in Autism Spectrum Disorders : No Relation to Clostridium difficile. J Mol Neurosci ;2020 (Jun 30)

The role of the gut microbiota in triggering autism is a rapidly emerging field of research. Gut microbiota have been incriminated because autistic children often have gastrointestinal symptoms. Pathogenic gut bacteria in children with autism spectrum disorders (ASD) have been reported. The present study aimed to assess Clostridium difficile in the stool of children with ASD and its relation to gastrointestinal (GI) comorbidities, autism severity, and sensory impairment. The study included 58 ASD patients, 45 of their neurotypical siblings, and 45 unrelated controls. Childhood Autism Rating Scale (CARS) was used to assess the severity of autism. Sensory problems were evaluated using the Short Sensory Profile (SSP). GI symptoms were assessed with a modified six-item GI Severity Index (6-GSI) questionnaire. Quantitative real-time PCR was done for the detection and quantitation of C. difficile and its toxins A and B. C. difficile was detected in 25.9%, 40%, and 15.6% of ASD cases, siblings, and unrelated control respectively. Regarding toxin A and B production, 73.3%, 77.8%, and 71.4% of C. difficile in positive ASD, siblings, and unrelated control cases respectively were toxigenic. There was no statistically significant difference between the three groups as regards C. difficile qualitative, quantitative, and toxin production results. In conclusion,C. difficile is not specifically prevalent in the gut of children with ASD. Although most of the strains are toxigenic, there were no GI symptoms in the control groups and no statistically significant association with GI Severity Index in autistic cases. Gastrointestinal dysfunction and sensory impairment are common comorbidities in ASD.

Lien vers le texte intégral (Open Access ou abonnement)

15. Klein-Tasman BP. Are the autism symptoms in neurofibromatosis type 1 actually autism ?. Dev Med Child Neurol ;2020 (Jul 2)

Lien vers le texte intégral (Open Access ou abonnement)

16. Kuzminskaite E, Begeer S, Hoekstra RA, Grove R. Short report : Social communication difficulties and restricted repetitive behaviors as predictors of anxiety in adults with autism spectrum disorder. Autism ;2020 (Jul 2):1362361320934218.

Autism spectrum disorder and anxiety are highly comorbid conditions. Understanding the underlying traits of anxiety in autism spectrum disorder is crucial to prevent and treat it efficiently. Hence, this study determined whether social communication difficulties or restricted repetitive behaviors are stronger risk factors for anxiety symptoms in autistic adults in a large cohort. Data on 742 autistic adults from the Netherlands Autism Register were included in the study. Hierarchical regression was implemented to evaluate whether social communication difficulties (Autism-Spectrum Quotient social behavior factor) and restricted repetitive behaviors (Adult Routines Inventory) were predictive of anxiety (Hospital Anxiety and Depression Scale) controlling for age and sex. When considered together, restricted repetitive behaviors stood out as significant positive predictors of anxiety symptoms (lower-order restricted repetitive behaviors, β = 0.32, p < 0.001 ; higher-order restricted repetitive behaviors, β = 0.15, p = 0.001), whereas social communication difficulties did not (β = 0.06, p = 0.11). Sex did not moderate these associations (p > 0.05). Non-social autistic traits are stronger predictors of anxiety symptoms than social traits in autistic adults. Increased attention to restricted repetitive behaviors should be given to improve current support programs for autistic adults with anxiety and to identify autistic individuals at risk.

Lien vers le texte intégral (Open Access ou abonnement)

17. Lee V, Duku E, Zwaigenbaum L, Bennett T, Szatmari P, Elsabbagh M, Kerns C, Mirenda P, Smith IM, Ungar WJ, Vaillancourt T, Volden J, Waddell C, Zaidman-Zait A, Thompson A, Georgiades S. Temperament influences the relationship between symptom severity and adaptive functioning in children with autism spectrum disorder. Autism ;2020 (Jul 2):1362361320933048.

Temperament is often thought of as behavioural traits that are relatively stable over time but can vary between individuals. Children diagnosed with autism spectrum disorder are often characterized as having ’reactive’ and ’negative’ temperaments when compared to same-aged peers with or without disabilities, which can negatively impact the development of adaptive functioning skills but little is known about variations of temperament between individual children diagnosed with autism spectrum disorder. This study aimed to (a) explore the variation of individual temperament traits within a sample of school-aged children with autism spectrum disorder to determine whether subgroups with similar trait profiles emerge and (b) examine whether temperament influences the relationship between autism symptoms and adaptive functioning outcomes. Results from our dataset suggest that children diagnosed with autism spectrum disorder fit under two profiles : ’even’ and ’reactive’. Furthermore, our analysis shows that temperament can influence the impact of increasing symptom severity on adaptive functioning skills in children with autism spectrum disorder. Study findings highlight the importance of considering temperament when trying to understand the individual differences that influence the development of functioning and developmental outcomes in children with autism spectrum disorder.

Lien vers le texte intégral (Open Access ou abonnement)

18. Li Y, Cheng Y, Liu Y. Reply to Comment on "Association Between DCC Polymorphisms and Susceptibility to Autism Spectrum Disorder". J Autism Dev Disord ;2020 (Jun 30)

The comments from Dr. Meisami about our article "Association between DCC polymorphisms and Susceptibility to Autism Spectrum Disorder", and we wish to respond to several points. First, 100% of detection rate for each SNP genotype cannot be obtained. Second, we listed the detection rates in Supplemental Table 1. Last, Dr. Meisami referred an article focused on two SNPs ; however, our article focused on seven SNPs. If we marked the number of detected cases, we had to make a table for each result, occupying a large part of the layout. Moreover, if the number of detected cases was marked respectively, it was not in accordance with academic norms. For these reasons, we provided the actual number of cases in Table 3.

Lien vers le texte intégral (Open Access ou abonnement)

19. Malihi M, Nguyen J, Cardy RE, Eldon S, Petta C, Kushki A. Short report : Evaluating the safety and usability of head-mounted virtual reality compared to monitor-displayed video for children with autism spectrum disorder. Autism ;2020 (Jul 2):1362361320934214.

This study investigated the safety and usability of a virtual reality experience for children with autism spectrum disorder in a laboratory setting. In our study, the negative effects of head-mounted display-virtual reality were similar to monitor-displayed video watching. At the same time, the participants indicated that the head-mounted display-virtual reality experience provided improved realism and sense of presence. This study is a first step in understanding the impact of head-mounted display on children with autism spectrum disorder.

Lien vers le texte intégral (Open Access ou abonnement)

20. Nuñez-Rios DL, Chaskel R, Lopez A, Galeano L, Lattig MC. The role of 5-HTTLPR in autism spectrum disorder : New evidence and a meta-analysis of this polymorphism in Latin American population with psychiatric disorders. PLoS One ;2020 ;15(7):e0235512.

The autism spectrum disorder (ASD) is a complex disorder encompassing a broad phenotypic and genotypic variability. The short (S)/long (L) 5-HTTLPR polymorphism has a functional role in the regulation of extracellular serotonin levels and both alleles have been associated to ASD. Most studies including European, American, and Asian populations have suggested an ethnical heterogeneity of this polymorphism ; however, the short/long frequencies from Latin American population have been under-studied in recent meta-analysis. Here, we evaluated the 5-HTTLPR polymorphism in Colombian individuals with idiopathic ASD and reported a non-preferential S or L transmission and a non-association with ASD risk or symptom severity. Moreover, to recognize the allelic frequencies of an under-represented population we also recovered genetic studies from Latin American individuals and compared these frequencies with frequencies from other ethnicities. Results from meta-analysis suggest that short/long frequencies in Latin American are similar to those reported in Caucasian population but different to African and Asian regions.

Lien vers le texte intégral (Open Access ou abonnement)

21. Panossian C, Lyons-Wall P, Whitehouse A, Oddy WH, Lo J, Scott J, O’Sullivan TA. Young Adults with High Autistic-Like Traits Displayed Lower Food Variety and Diet Quality in Childhood. J Autism Dev Disord ;2020 (Jul 2)

This study explored the association between autistic-like traits in young adults and dietary intake in early childhood in the Gen2 Raine Study cohort. Data were available from 811 participants at years 1, 2 and 3 for the assessment of dietary intake, and at year 20 for measurement of autistic-like traits. Results showed as autistic-like traits increased, total food variety, core food variety and dairy variety decreased (p < 0.05), with a lower consumption of citrus fruits and yoghurt (both p = 0.04). As autistic-like traits increased, diet quality decreased, this trend was significant at 2 years (p = 0.024). Our results suggest that young adults with higher autistic-like traits were more likely to have had lower food variety and diet quality in early childhood.

Lien vers le texte intégral (Open Access ou abonnement)

22. Portnova GV, Ivanova O, Proskurnina EV. Effects of EEG examination and ABA-therapy on resting-state EEG in children with low-functioning autism. AIMS Neurosci ;2020 ;7(2):153-167.

OBJECTIVE : We aimed to study the effects of EEG examination and ABA-therapy on resting-state EEG in children with low-functioning autism and tactile defensiveness. METHODS : We have performed this study with three cohorts of preschoolers : children with autistic spectrum disorder (ASD) who needed applied behavior analysis (ABA) therapy due to their tactile defensiveness ; children with ASD who didn’t need ABA therapy ; and the control group of healthy children. Number of microstates was determined in the initial and final parts of the resting-state EEGs. RESULTS AND CONCLUSIONS : Children with higher tactile defensiveness for the most part had specific EEG microstates associated with unpleasant emotions and senses. The EEG microstates of children with ASD who did not need ABA therapy, had more similarities with the EEG microstates of typically developing children except for temporary changes. Meanwhile, the children with tactile defensiveness demonstrated typical patterns of EEG microstates from start to finish of the procedure.

Lien vers le texte intégral (Open Access ou abonnement)

23. Riedel A, Maier S, Wenzler K, Feige B, Tebartz van Elst L, Bölte S, Neufeld J. A case of co-occuring synesthesia, autism, prodigious talent and strong structural brain connectivity. BMC Psychiatry ;2020 (Jun 30) ;20(1):342.

BACKGROUND : Synesthesia is a sensory phenomenon where certain domain-specific stimuli trigger additional sensations of e.g. color or texture. The condition occurs in about 4% of the general population, but is overrepresented in individuals with Autism Spectrum Disorder (ASD), where it might also be associated with the presence of prodigious talents. CASE PRESENTATION : Here we describe the case of a young transsexual man with Asperger Syndrome, synesthesia and a prodigious talent for foreign language acquisition. In our case, not only letters, numbers, spoken words, music, noises, weekdays and months lead to highly consistent, vivid color sensations but also his own and others’ emotions, geometric shapes, any mathematical symbol, and letters from an unfamiliar alphabet (Hebrew). These color associations seem to aid categorization, differentiation and storage of information and might thereby contribute to the young man’s language acquisition ability. We investigated the young man’s structural brain connectivity in comparison to adults with or without ASD, applying global fiber tracking to diffusion-weighted Magnetic Resonance Imaging (MRI) data. The case presented with increased connectivity, especially between regions involved in visual and emotion processing, memory, and higher order associative binding regions. An electroencephalography experiment investigating synesthetic color and shape sensations while listening to music showed a negligible occipital alpha suppression, indicating that these internally generated synesthetic sensations derive from a different brain mechanism than when processing external visual information. CONCLUSIONS : Taken together, this case study endorses the notion of a link between synesthesia, prodigious talent and autism, adding to the currently still sparse literature in this field. It provides new insights into the possible manifestations of synesthesia in individuals with ASD and its potential contribution to prodigious talents in people with an otherwise unexceptional cognitive profile. Additionally, this case impressively illustrates how synesthesia can be a key element not only of sensory perception but also social and emotional processing and contributes to existing evidence of increased brain connectivity in association with synesthesia.

Lien vers le texte intégral (Open Access ou abonnement)

24. Simhal AK, Carpenter KLH, Nadeem S, Kurtzberg J, Song A, Tannenbaum A, Sapiro G, Dawson G. Measuring robustness of brain networks in autism spectrum disorder with Ricci curvature. Sci Rep ;2020 (Jul 2) ;10(1):10819.

Ollivier-Ricci curvature is a method for measuring the robustness of connections in a network. In this work, we use curvature to measure changes in robustness of brain networks in children with autism spectrum disorder (ASD). In an open label clinical trials, participants with ASD were administered a single infusion of autologous umbilical cord blood and, as part of their clinical outcome measures, were imaged with diffusion MRI before and after the infusion. By using Ricci curvature to measure changes in robustness, we quantified both local and global changes in the brain networks and their potential relationship with the infusion. Our results find changes in the curvature of the connections between regions associated with ASD that were not detected via traditional brain network analysis.

Lien vers le texte intégral (Open Access ou abonnement)

25. Tepest R. The Meaning of Diagnosis for Different Designations in Talking About Autism. J Autism Dev Disord ;2020 (Jun 30)

Lien vers le texte intégral (Open Access ou abonnement)

26. Thomazeau A, Bosch M, Essayan-Perez S, Barnes SA, De Jesus-Cortes H, Bear MF. Dissociation of functional and structural plasticity of dendritic spines during NMDAR and mGluR-dependent long-term synaptic depression in wild-type and fragile X model mice. Mol Psychiatry ;2020 (Jul 1)

Many neurodevelopmental disorders are characterized by impaired functional synaptic plasticity and abnormal dendritic spine morphology, but little is known about how these are related. Previous work in the Fmr1(-/y) mouse model of fragile X (FX) suggests that increased constitutive dendritic protein synthesis yields exaggerated mGluR5-dependent long-term synaptic depression (LTD) in area CA1 of the hippocampus, but an effect on spine structural plasticity remains to be determined. In the current study, we used simultaneous electrophysiology and time-lapse two photon imaging to examine how spines change their structure during LTD induced by activation of mGluRs or NMDA receptors (NMDARs), and how this plasticity is altered in Fmr1(-/y) mice. We were surprised to find that mGluR activation causes LTD and AMPA receptor internalization, but no spine shrinkage in either wildtype or Fmr1(-/y) mice. In contrast, NMDAR activation caused spine shrinkage as well as LTD in both genotypes. Spine shrinkage was initiated by non-ionotropic (metabotropic) signaling through NMDARs, and in wild-type mice this structural plasticity required activation of mTORC1 and new protein synthesis. In striking contrast, NMDA-induced spine plasticity in Fmr1(-/y) mice was no longer dependent on acute activation of mTORC1 or de novo protein synthesis. These findings reveal that the structural consequences of mGluR and metabotropic NMDAR activation differ, and that a brake on spine structural plasticity, normally provided by mTORC1 regulation of protein synthesis, is absent in FX. Increased constitutive protein synthesis in FX appears to modify functional and structural plasticity induced through different glutamate receptors.

Lien vers le texte intégral (Open Access ou abonnement)

27. Zhou H, Xu X, Yan W, Zou X, Wu L, Luo X, Li T, Huang Y, Guan H, Chen X, Mao M, Xia K, Zhang L, Li E, Ge X, Zhang L, Li C, Zhang X, Zhou Y, Ding D, Shih A, Fombonne E, Zheng Y, Han J, Sun Z, Jiang YH, Wang Y. Prevalence of Autism Spectrum Disorder in China : A Nationwide Multi-center Population-based Study Among Children Aged 6 to 12 Years. Neurosci Bull ;2020 (Jun 30)

This study aimed to obtain the first national estimate of the prevalence of autism spectrum disorder (ASD) in Chinese children. We targeted the population of 6 to 12-year-old children for this prevalence study by multistage convenient cluster sampling. The Modified Chinese Autism Spectrum Rating Scale was used for the screening process. Of the target population of 142,086 children, 88.5% (n = 125,806) participated in the study. A total of 363 children were confirmed as having ASD. The observed ASD prevalence rate was 0.29% (95% CI : 0.26%-0.32%) for the overall population. After adjustment for response rates, the estimated number of ASD cases was 867 in the target population sample, thereby achieving an estimated prevalence of 0.70% (95% CI : 0.64%-0.74%). The prevalence was significantly higher in boys than in girls (0.95% ; 95% CI : 0.87%-1.02% versus 0.30% ; 95% CI : 0.26%-0.34% ; P < 0.001). Of the 363 confirmed ASD cases, 43.3% were newly diagnosed, and most of those (90.4%) were attending regular schools, and 68.8% of the children with ASD had at least one neuropsychiatric comorbidity. Our findings provide reliable data on the estimated ASD prevalence and comorbidities in Chinese children.

Lien vers le texte intégral (Open Access ou abonnement)


Annonces

Accès direct au catalogue en ligne !

Vous pouvez accéder directement au catalogue en ligne du centre de documentation du CRA Rhône-Alpes en cliquant sur l’image ci-dessous :

Cliquez pour consulter le catalogue


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