1. Bertoletti ACC, Peres KK, Faccioli LS, Vacci MC, Mata IRD, Kuyven CJ, Bosco SMD. Early exposure to agricultural pesticides and the occurrence of autism spectrum disorder: a systematic review. Rev Paul Pediatr;2022;41:e2021360.

OBJECTIVE: The aim of this study was to evaluate the influence of early exposure to agricultural pesticides and their relationship with autism spectrum disorder. DATA SOURCE: This systematic review was registered at PROSPERO as CRD42020204842. The subject was systematically analyzed on PubMed, Scopus, and Web of Science databases until April 2021. Only studies with humans with early exposure to agricultural pesticides and diagnosis of autism were included. Exclusion criteria were studies on pesticides for domestic or veterinary use and late exposure. There were no language and time restriction. The quality analysis of the studies used the Newcastle-Ottawa Scale. DATA SYNTHESIS: Six case-control studies were included; three of them measured the route of exposure by maternal biomarkers and the others by the residence address. The studies had scores between moderate and high in the quality assessment tool. It was found high rates of association between early exposure to agricultural pesticides and autism and detection limit above the quantification for a sample of polychlorinated biphenyls, hexachlorobenzene, and dichlorodiphenyldichloroethylene. CONCLUSIONS: There is evidence concerning the exposure to agricultural pesticides in early life and the development of the autism spectrum disorder; however, more studies are required to better understand their possible association.

Lien vers le texte intégral (Open Access ou abonnement)

2. Bouw N, Swaab H, Tartaglia N, Wilson RL, Van der Velde K, van Rijn S. Early symptoms of autism spectrum disorder (ASD) in 1-8 year old children with sex chromosome trisomies (XXX, XXY, XYY), and the predictive value of joint attention. Eur Child Adolesc Psychiatry;2022 (Sep 15)

The objective of the present study is to investigate the impact of Sex Chromosome Trisomy (SCT; XXX, XXY, XYY) on the early appearance of Autism Spectrum Disorder (ASD) symptoms, and the predictive value of Joint Attention for symptoms of ASD. SCTs are specific genetic conditions that may serve as naturalistic ‘at risk’ models of neurodevelopment, as they are associated with increased risk for neurobehavioral vulnerabilities. A group of 82 children with SCT (aged 1-8 years) was included at baseline of this longitudinal study. Joint Attention was measured at baseline with structured behavior observations according to the Early Social Communication Scales. ASD symptoms were assessed with the Modified Checklist for Autism in Toddlers questionnaire and Autism Diagnostic Interview-Revised in a 1-year follow-up. Recruitment and assessment took place in the Netherlands and in the United States. The results demonstrate that ASD symptoms were substantially higher in children with SCT compared to the general population, with 22% of our cohort at clinical risk for ASD, especially in the domain of social interaction and communication. Second, a predictive value of Joint Attention was found for ASD symptoms at 1-year follow-up. In this cohort, no differences were found between karyotype-subtypes. In conclusion, from a very early age, SCT can be associated with an increased risk for vulnerabilities in adaptive social functioning. These findings show a neurodevelopmental impact of the extra X or Y chromosome on social adaptive development associated with risk for ASD already from early childhood onward. These findings advocate for close monitoring and early (preventive) support, aimed to optimize social development of young children with SCT.

Lien vers le texte intégral (Open Access ou abonnement)

3. Conner CM, Kim PS, White SW, Mazefsky CA. The role of emotion dysregulation and intolerance of uncertainty in autism: Transdiagnostic factors influencing co-occurring conditions. Res Dev Disabil;2022 (Sep 15);130:104332.

BACKGROUND: Individuals with autism spectrum disorders (ASD) are more likely to have co-occurring psychiatric conditions such as depression and anxiety. Transdiagnostic constructs such as intolerance of uncertainty (IU) and emotion dysregulation (ED) have both been shown to be individually associated with depression and anxiety in those with ASD. AIMS: The current study examined the relationship between IU and ED, depression, and anxiety in an ED treatment-seeking sample and examined whether ED acts as a mediator between IU-depression and IU-anxiety. METHODS AND PROCEDURES: We examined baseline scores for 78 adolescents and young adults (12-21 years old) who were participating in an ED treatment. We assessed for correlations between IU, Reactivity and Dysphoria, anxiety, and depression symptoms, and then conducted mediation analyses to determine whether Reactivity and Dysphoria functioned as a mediator in IU- anxiety and IU- depression relationships. OUTCOMES AND RESULTS: Concordant with prior research, ED, IU, anxiety, and depression scores were correlated. Both Reactivity and Dysphoria were found to mediate both IU-depression and IU-anxiety. CONCLUSIONS AND IMPLICATIONS: Findings suggest that ED contributes to how IU affects psychopathology. Furthermore, both IU and ED may be pertinent treatment targets for individuals with depression or anxiety and ASD.

Lien vers le texte intégral (Open Access ou abonnement)

4. Cucinotta F, Vetri L, Ruta L, Turriziani L, Benedetto L, Ingrassia M, Maggio R, Germanò E, Alquino A, Siracusano R, Roccella M, Gagliano A. Impact of Three Kinds of Early Interventions on Developmental Profile in Toddlers with Autism Spectrum Disorder. J Clin Med;2022 (Sep 15);11(18)

Autism spectrum disorder is a neurodevelopmental disorder with a rising prevalence disorder. This high-cost/high-burden condition needs evidence-based behavioral treatments that are able to reduce the impact of symptoms on children’s functioning. This retrospective chart review study compared the impact of different types of early interventions on toddlers diagnosed with an autism spectrum disorder developmental profile. Analyses were conducted on 90 subjects (mean = 27.76 months, range 18-44 months; M:F = 4.29:1), of which 36 children underwent the usual treatment, 13 children underwent an intervention based on early intensive behavioral intervention (EIBI) and 41 children received the Early Start Denver Model, for one year, with the same weekly frequency of about 6 h a week. A significant decrease in the severity of autism symptoms was observed for all children when looking at the Ados-2 severity score (average difference = 3.05, SD = 0.71, p = < 0.001) and the Ados-2 social subscale (average difference = 2.87, SD = 0.59, p < 0.001). Otherwise, for most of the Griffiths subscales, we found a significant improvement only for those children who underwent the Early Start Denver Model intervention (General Quotient average difference = 14.47, SD = 3.22, corrected p < 0.001). Analyzing the influence of age on the investigated scores, we found a significant association with the Eye-hand Coordination Quotient (p = 0.003), Performance Quotient (p = 0.042) and General Quotient (p = 0.006). In all these domains, a mild negative correlation with age was observed, as measured by the Pearson’s correlation coefficient (r = -0.32, p = 0.002; r = -0.21, p = 0.044; r = -0.25, p = 0.019, respectively), suggesting less severe developmental skills at the start of treatment for older children. Our results are consistent with the literature that underlines the importance of early intervention, since prompt diagnosis can reduce the severity of autism symptoms; nevertheless, in toddlers, our study demonstrated that an intervention model based on naturalistic developmental behavioral principles such as the Early Start Denver Model is more effective on children’s developmental profile. Further studies are required to assess the extent of effectiveness of different early intervention models in community settings.

Lien vers le texte intégral (Open Access ou abonnement)

5. Dantas AMN, Santos-Rodrigues RCD, Silva Júnior JNB, Nascimento MNR, Brandão MAG, Nóbrega M. Nursing theories developed to meet children’s needs: a scoping review. Rev Esc Enferm USP;2022;56:e20220151.

OBJECTIVE: To map the nursing theories developed to meet children’s needs. METHOD: The JBI methodology and the PRISMA guided this scoping review. The search took place between October and November 2021, based on the PCC mnemonic: P (Population) – a child aged 0 to 9 years; C (Concept) – nursing theories; C (Context) – nursing. RESULTS: We identified 2,242 publications and selected 21 manuscripts consisting of nursing theories to meet children’s feeding needs, child pain, a child with asthma, diabetes, obesity, epilepsy, Congenital Zika Syndrome, autism spectrum disorder; theory for care in Intensive Care Units; health promotion to premature babies; procedures in Intensive Care Units; theory for nursing diagnosis ineffective breathing pattern in children with congenital heart disease; sleep associated with child development; parent-child interaction; nurse-child relationship; and child’s consultation. CONCLUSION: The nursing theories mapped have the potential to outline the course of nursing care to children’s needs highlighted in the studies that made up the sample.

Lien vers le texte intégral (Open Access ou abonnement)

6. F NG, Brennan A, Bolshakova N, Foley M, Gallagher L, Lopez LM. Establishing an Irish autism research network. Ir J Psychol Med;2022 (Sep 15):1-2.

Lien vers le texte intégral (Open Access ou abonnement)

7. Fabio RA, Chiarini L, Canegallo V. Pain in Rett syndrome: a pilot study and a single case study on the assessment of pain and the construction of a suitable measuring scale. Orphanet J Rare Dis;2022 (Sep 14);17(1):356.

BACKGROUND: Rett Syndrome (RTT) is a severe, neurodevelopmental disorder mainly caused by mutations in the MECP2 gene, affecting around 1 in 10,000 female births. Severe physical, language, and social impairments impose a wide range of limitations in the quality of life of the patients with RTT. Comorbidities of patients with RTT are varied and cause a lot of pain, but communicating this suffering is difficult for these patients due to their problems, such as apraxia that does not allow them to express pain in a timely manner, and their difficulties with expressive language that also do not permit them to communicate. Two studies, a pilot study and a single case study, investigate the manifestation of pain of patients with RTT and propose a suitable scale to measure it. AIMS OF THIS STUDY: The first aim was to describe pain situations of RTT by collecting information by parents; the second aim was to test and compare existing questionnaires for non-communicating disorders on pain such as Pain assessment in advanced demenzia (PAINAD), the Critical care pain observation tool (CPOT) and the Non-communicating Children’s Pain Checklist-Revised (NCCPC-R) to assess which of them is best related to the pain behavior of patients with RTT. The third aim was to identify the specific verbal and non-verbal behaviors that characterize pain in girls with Rett syndrome, discriminating them from non-pain behaviors. METHOD: Nineteen participants, eighteen girls with RTT and one girl with RTT with 27 manifestations of pain were video-recorded both in pain and base-line conditions. Two independent observers codified the 90 video-recording (36 and 54) to describe their behavioral characteristics. RESULTS: The two studies showed that the most significant pain behaviors expressed by girls with respect to the baseline condition, at the facial level were a wrinkled forehead, wide eyes, grinding, banging teeth, complaining, making sounds, crying and screaming, and the most common manifestations of the body were tremors, forward and backward movement of the torso, tension in the upper limbs, increased movement of the lower limbs and a sprawling movement affecting the whole body. CONCLUSION: The results of the two studies helped to create an easy-to-apply scale that healthcare professionals can use to assess pain in patients with Rett’s syndrome. This scale used PAINAD as its basic structure, with some changes in the items related to the behavior of patients with RTT.

Lien vers le texte intégral (Open Access ou abonnement)

8. Hadad BS, Yashar A. Sensory Perception in Autism: What Can We Learn?. Annu Rev Vis Sci;2022 (Sep 15);8:239-264.

Autism is a neurodevelopmental disorder of unknown etiology. Recently, there has been a growing interest in sensory processing in autism as a core phenotype. However, basic questions remain unanswered. Here, we review the major findings and models of perception in autism and point to methodological issues that have led to conflicting results. We show that popular models of perception in autism, such as the reduced prior hypothesis, cannot explain the many and varied findings. To resolve these issues, we point to the benefits of using rigorous psychophysical methods to study perception in autism. We advocate for perceptual models that provide a detailed explanation of behavior while also taking into account factors such as context, learning, and attention. Furthermore, we demonstrate the importance of tracking changes over the course of development to reveal the causal pathways and compensatory mechanisms. We finally propose a developmental perceptual narrowing account of the condition.

Lien vers le texte intégral (Open Access ou abonnement)

9. Hood SA, Gopez JM, Fallon MJ, Byczynski FA, Aquino SC, Monroy S. The beginning of a friendship: Teaching individuals with autism to identify shared interests. J Appl Behav Anal;2022 (Sep 15)

Individuals with conversation skill deficits often have difficulties discriminating cues of interest and uninterest from their conversation partner(s). We used behavioral skills training (BST) to teach 3 individuals with autism spectrum disorder to converse about the conversation partner’s topics of interest, initiate strategic preferred topics to identify shared interests after indices of uninterest, and end the conversation. We assessed generality of each skill across conversation partners and ratings of social acceptability. We replicated previous research on BST producing robust increases in following the conversation, shifting the topic of conversation, and ending the conversation. In addition, all participants learned to categorize shared interests. We observed overall high levels of generality across following, shifting, and ending the conversation with all conversation partners. However, for 2 out of the 3 participants the inclusion of rules was necessary to promote the generality of the intraverbal categorization response. We discuss the implication of these findings for clinical practice and future research.

Lien vers le texte intégral (Open Access ou abonnement)

10. Hou Y, Yan T, Deng M. A Qualitative Study on Parental Experience of Involvement in the Transition from Kindergarten to Primary School for Chinese Children with Intellectual and Developmental Disabilities. J Autism Dev Disord;2022 (Sep 15):1-16.

Parental involvement plays a vital role in the transition from kindergarten to primary school among children with intellectual and developmental disabilities (IDDs); this study aims to explore Chinese parents’ experiences of parental involvement during this period. Informed by interpretive phenomenological analysis, semi-structured, one-on-one interviews were held with 10 parents. Three major themes were identified: (1) « aggressive » involvement; (2) factors in transforming parental involvement; and (3) « rational » involvement. Participants reported their perceptions, attitudes, and parenting behaviors in different phases of involvement in the transition to primary school. These findings highlight the need to support parents of children with IDDs during this time of change.

Lien vers le texte intégral (Open Access ou abonnement)

11. Jarrige D, Nadalig T, Joly M, Sancelme M, Vuilleumier S, Amato P, Bringel F. Complete Genome of Sphingomonas aerolata PDD-32b-11, Isolated from Cloud Water at the Summit of Puy de Dôme, France. Microbiol Resour Announc;2022 (Sep 15):e0068422.

The complete genome of Sphingomonas aerolata PDD-32b-11, a bacterium isolated from cloud water, was sequenced. It features four circular replicons, a chromosome of 3.99 Mbp, and three plasmids. Two putative rhodopsin-encoding genes were detected which might act as proton pumps to harvest light energy.

Lien vers le texte intégral (Open Access ou abonnement)

12. Jassim N, Owen AM, Smith P, Suckling J, Lawson RP, Baron-Cohen S, Parsons O. Perceptual decision-making in autism as assessed by « spot the difference » visual cognition tasks. Sci Rep;2022 (Sep 14);12(1):15458.

Discriminating between similar figures proves to be a remarkably demanding task due to the limited capacity of our visual cognitive processes. Here we examine how perceptual inference and decision-making are modulated by differences arising from neurodiversity. A large sample of autistic (n = 140) and typical (n = 147) participants completed two forced choice similarity judgement tasks online. Each task consisted of « match » (identical figures) and « mismatch » (subtle differences between figures) conditions. Signal detection theory analyses indicated a response bias by the autism group during conditions of uncertainty. More specifically, autistic participants were more likely to choose the « mismatch » option, thus leading to more hits on the « mismatch » condition, but also more false alarms on the « match » condition. These results suggest differences in response strategies during perceptual decision-making in autism.

Lien vers le texte intégral (Open Access ou abonnement)

13. Kim SA, Baczewski L, Pizzano M, Kasari C, Sturm A. Discrimination and Harassment Experiences of Autistic College Students and Their Neurotypical Peers: Risk and Protective Factors. J Autism Dev Disord;2022 (Sep 14)

This study examines autistic and non-autistic college students’ experiences of discrimination and harassment and identifies protective and risk factors. A nationwide survey was used to match autistic students (N = 290) and non-autistic students (N = 290) on co-occurring diagnoses and demographic characteristics. Multiple regression and interaction analysis revealed that faculty support was protective against discrimination and harassment regardless of autism status. Habits of mind was particularly protective for autistic students against harassment. Any student who engaged in school-facilitated events was more likely to experience discrimination and harassment, but the risk was heightened for autistic students. Findings highlight the importance of faculty support in fostering positive interpersonal experiences on campus, and demonstrate the need to address deeper college campus issues with respect to neurodiversity.

Lien vers le texte intégral (Open Access ou abonnement)

14. Lee JK, Cho ACB, Andrews DS, Ozonoff S, Rogers SJ, Amaral DG, Solomon M, Nordahl CW. Default mode and fronto-parietal network associations with IQ development across childhood in autism. J Neurodev Disord;2022 (Sep 15);14(1):51.

BACKGROUND: Intellectual disability affects approximately one third of individuals with autism spectrum disorder (autism). Yet, a major unresolved neurobiological question is what differentiates autistic individuals with and without intellectual disability. Intelligence quotients (IQs) are highly variable during childhood. We previously identified three subgroups of autistic children with different trajectories of intellectual development from early (2-3½ years) to middle childhood (9-12 years): (a) persistently high: individuals whose IQs remained in the normal range; (b) persistently low: individuals whose IQs remained in the range of intellectual disability (IQ < 70); and (c) changers: individuals whose IQs began in the range of intellectual disability but increased to the normal IQ range. The frontoparietal (FPN) and default mode (DMN) networks have established links to intellectual functioning. Here, we tested whether brain regions within the FPN and DMN differed volumetrically between these IQ trajectory groups in early childhood. METHODS: We conducted multivariate distance matrix regression to examine the brain regions within the FPN (11 regions x 2 hemispheres) and the DMN (12 regions x 2 hemispheres) in 48 persistently high (18 female), 108 persistently low (32 female), and 109 changers (39 female) using structural MRI acquired at baseline. FPN and DMN regions were defined using networks identified in Smith et al. (Proc Natl Acad Sci U S A 106:13040-5, 2009). IQ trajectory groups were defined by IQ measurements from up to three time points spanning early to middle childhood (mean age time 1: 3.2 years; time 2: 5.4 years; time 3: 11.3 years). RESULTS: The changers group exhibited volumetric differences in the DMN compared to both the persistently low and persistently high groups at time 1. However, the persistently high group did not differ from the persistently low group, suggesting that DMN structure may be an early predictor for change in IQ trajectory. In contrast, the persistently high group exhibited differences in the FPN compared to both the persistently low and changers groups, suggesting differences related more to concurrent IQ and the absence of intellectual disability. CONCLUSIONS: Within autism, volumetric differences of brain regions within the DMN in early childhood may differentiate individuals with persistently low IQ from those with low IQ that improves through childhood. Structural differences in brain networks between these three IQ-based subgroups highlight distinct neural underpinnings of these autism sub-phenotypes.

Lien vers le texte intégral (Open Access ou abonnement)

15. Losada-Puente L, Baña M. Assessment of Adaptive Behavior in People with Autism Spectrum Disorders through the ICAP. Behav Sci (Basel);2022 (Sep 15);12(9)

Evaluating adaptive behavior in people with Autism Spectrum Disorder (ASD) requires attending to a set of cognitive processes associated with social interaction skills and functional communication that are altered. This paper presents the analysis of an instrument to assess and diagnose adaptive behavior in people with Autism Spectrum Disorder (ASD), given the need for rigorous, standardized, and statistically reliable tools to address this dimension, incorporated into the diagnosis since 1992. The Inventory for Service Planning and Individual Programming (ICAP) was applied to n = 209 children with ASD. Its psychometric properties were studied to provide statistical criteria for its usefulness in assessing adaptive behavior. Results highlighted variations in its original structure, reducing the number of items from 77 to 60 by eliminating those with little discriminative power, and of dimensions from four to three given their greater congruence with the results of the exploratory analysis: daily life skills (α = 0.892-0.935), communication and linguistic skills (α = 0.860-0.931), and motor skills (α = 0.828-0.857). This again raises questions about the use of instruments similar in their dimensions, and about the interaction between variables and items, a frequent issue in the field of mind, social, and health sciences.

Lien vers le texte intégral (Open Access ou abonnement)

16. Montiel-Nava C, Tregnago M, Marshall J, Sohl K, Curran AB, Mahurin M, Warne-Griggs M, Dixon P. Implementing the WHO caregivers skills training program with caregivers of autistic children via telehealth in rural communities. Front Psychiatry;2022;13:909947.

BACKGROUND: For families with autistic children living in rural areas, limited access to services partly results from a shortage of providers and extensive travel time. Telehealth brings the possibility of implementing alternative delivery modalities of Parent Mediated Interventions (PMIs) with the potential to decrease barriers to accessing services. This study aimed to evaluate the feasibility and acceptability of implementing the World Health Organization-Caregivers Skills Training program (WHO-CST) via an online, synchronous group format in rural Missouri. METHODS: We used a mixed methods design to collect qualitative and quantitative data from caregivers and program facilitators at baseline and the end of the program, following the last home visit. Caregivers of 14 autistic children (3-7 years), residents of rural Missouri, completed nine virtual sessions and four virtual home visits. RESULTS: Four main themes emerged from the focus groups: changes resulting from the WHO-CST, beneficial aspects of the program, advantages and disadvantages of the online format, and challenges to implementing the WHO-CST via telehealth. The most liked activity was the demonstration (36%), and the least liked was the practice with other caregivers. From baseline to week 12, communication skills improved in both frequency (p < 0.05) and impact (p < 0.01), while atypical behaviors decreased (p < 0.01). For caregivers' outcomes, only confidence in skills (p < 0.05) and parental sense of competence (p < 0.05) showed a positive change. CONCLUSION: Our results support the feasibility of implementing the WHO-CST program via telehealth in a US rural setting. Caregivers found strategies easy to follow, incorporated the program into their family routines, and valued the group meetings that allowed them to connect with other families. A PMI such as the WHO-CST, with cultural and linguistic adaptations and greater accessibility via telehealth-plays an essential role in closing the treatment gap and empowering caregivers of autistic children.

Lien vers le texte intégral (Open Access ou abonnement)

17. Nekar DM, Kang H, Alao H, Yu J. Feasibility of Using Multiplayer Game-Based Dual-Task Training with Augmented Reality and Personal Health Record on Social Skills and Cognitive Function in Children with Autism. Children (Basel);2022 (Sep 15);9(9)

The purpose of this preliminary study was to evaluate the feasibility of multiplayer game contents with dual-task exercises using augmented reality (AR) and a personal health record (PHR) system for social skills and cognitive function in children with autism. The present study used a single group pretest-posttest study design with fourteen children diagnosed with autism and aged 6-16 years. The intervention consisted of various game contents designed specifically with cognitive and motor tasks, performed for 30 min per session, twice a week, for three weeks. Outcome measures were conducted before and after the intervention and included social skills and cognitive function. A satisfactory survey was conducted post-intervention to assess the usability of the performed games. As result, statistically significant improvements were observed in all subscales of the social skills and cognitive function expected in two subscales of each measured outcome. Parents and children appreciated the overall game program, and no risk of injury and dizziness were mentioned. This preliminary study found that multiplayer game-based dual-task training using AR and PHR was feasible and has a promising efficacy for children with autism. However, there is the need to conduct a randomized control study with a large sample size.

Lien vers le texte intégral (Open Access ou abonnement)

18. Saito Y, Takeshita E, Komaki H, Nishino I, Sasaki M. Determining neurodevelopmental manifestations in Duchenne muscular dystrophy using a battery of brief tests. J Neurol Sci;2022 (Sep 15);440:120340.

OBJECTIVE: We report neurodevelopmental manifestations in boys with Duchenne muscular dystrophy (DMD) and evaluate the correlations between mutation location and three neurodevelopmental abnormalities: intellectual disability, autism spectrum disorder, and attentional problems. METHODS: This cross-sectional study included 55 Japanese boys with genetically confirmed DMD who visited the outpatient department of the National Center for Psychiatry and Neurology of Japan from October 2017 to April 2018. Neurodevelopmental manifestations were evaluated using the Raven’s Colored Progressive Matrices (RCPM), the Parent-Interview Autism Spectrum Disorder Rating Scale-Text Revision (PARS-TR), and the Attention-Deficit Hyperactivity Disorder-Rating Scale. RESULTS: Among the 55 boys (mean [standard deviation, SD] age, 9.5 [1.6] years), 24 (43.6%) scored below -2.0 SD in RCPM, indicating intellectual disability. Further, 83% had DMD variants in exon 45 or downstream to it (P = 0.005). On the PARS-TR, 30 (55%) and 21 boys (38%) scored higher than the clinical cutoff score in childhood and present scores, respectively. Stereotyped behavior and restricted interests scores were found to decrease with age (P = 0.003 and P = 0.01, respectively). DISCUSSION: The results show that boys with DMD who have intellectual disability commonly have DMD variants in exon 45 or downstream to it. Stereotyped behavior and restricted interests improved with age, while intellectual disability did not. CONCLUSION: Understanding these characteristics of neurodevelopmental disability may reduce risky behaviors and improve the overall quality of life of patients with DMD.

Lien vers le texte intégral (Open Access ou abonnement)

19. Shuleski K, Zalles L, Lozano R. Exploring Parents’ Concerns Regarding Long-Term Support and Living Arrangements for Their Children with Fragile X Syndrome. Genes (Basel);2022 (Sep 15);13(9)

Given limited data regarding future planning specific to Fragile X Syndrome (FXS) individuals and the growing population of individuals within this community, this study sought to explore the concerns and challenges caregivers of individuals affected by FXS encounter when considering long-term support plans. This involved identifying the reasons individuals with FXS continue to reside with family and the reservations caregivers have regarding future supports and living arrangements. We administered an anonymous online survey consisting of 34 questions assessing eligibility, living arrangements/supports, and future concerns. We found that most individuals with FXS were affected with moderate Intellectual and Developmental Disabilities (IDD) and co-occurring behavioral conditions but had overall good health. The majority of individuals with FXS currently resided with family due to parental desire, their own desire, and the inability to live independently. For one-third of caregivers, the plan for future living arrangements is to continue residing with family members long-term. A large proportion of caregivers had not considered alternative arrangements or were unsure. More than 70% of caregivers of individuals with FXS are concerned about multiple aspects of the individual’s future. Caregivers of younger individuals are the most concerned, but also believe they have time before they need to plan or are unable to currently assess the future need for support.

Lien vers le texte intégral (Open Access ou abonnement)

20. Tamon H, Itahashi T, Yamaguchi S, Tachibana Y, Fujino J, Igarashi M, Kawashima M, Takahashi R, Shinohara NA, Noda Y, Nakajima S, Hirota T, Aoki YY. Autistic children and adolescents with frequent restricted interest and repetitive behavior showed more difficulty in social cognition during mask-wearing during the COVID-19 pandemic: a multisite survey. BMC Psychiatry;2022 (Sep 14);22(1):608.

BACKGROUND: The public health measures enacted in order to control the coronavirus disease (COVID-19) pandemic have caused considerable changes to daily life. For autistic children and adolescents, adapting to the « new normal, » including mask-wearing, may be difficult because of their restricted interest and repetitive behavior (RRB) characteristics. We aimed to examine the relationships between RRB characteristics and the impact of mask-wearing on their social communications during the pandemic. METHODS: We recruited participants with a clinical diagnosis of autism spectrum disorder based on DSM-5 diagnostic criteria from two outpatient clinics in Tokyo, Japan, between November 2020 and April 2021 using a convenience sampling methodology. As a result, the participants consisted of 102 children and adolescents (mean (SD) age = 11.6 (5.3)). We collected data on RRB characteristics frequency before and during the pandemic using the CoRonavIruS Health Impact Survey (CRISIS) – Adapted for Autism and Related Neurodevelopmental conditions (AFAR). We then conducted factor analyses to compute the RRB severity composite scores, which are divided into lower- (e.g., sensory seeking), and higher-order (e.g., restricted interest). We also investigated mask-wearing culture using a bespoke questionnaire, and using Spearman’s rank correlation analyses, we examined the relationships between before pandemic RRB characteristics, and the impact of mask-wearing on social communications during the pandemic. RESULTS: We found that children and adolescents who exhibited lower-order RRB before the pandemic had difficulties in going-out with mask-wearing (rho = -0.25, q = .031), more challenges with mask-wearing (rho =  - 0.34, q = .0018), and difficulty in referring to others’ emotions while wearing masks (rho =  - 0.36, q = .0016). We also found an association between higher-order RRB before the pandemic and an uncomfortable sensation (rho =  - 0.42, q = .0002) and difficulties in referring to other’s emotions while wearing masks (rho =  - 0.25, q = .031). CONCLUSIONS: We revealed that various behaviors, such as sensory seeking, repetitive motor mannerisms and movements, and rituals and routines, undertaken before the pandemic could be important predictors of difficulties with mask-wearing and social communication for autistic children and adolescents during the pandemic. Caregivers and teachers wearing masks may need to provide extra support for social communication to autistic children and adolescents showing RRB characteristics frequently.

Lien vers le texte intégral (Open Access ou abonnement)

21. Tartaglione AM, Villani A, Ajmone-Cat MA, Minghetti L, Ricceri L, Pazienza V, De Simone R, Calamandrei G. Maternal immune activation induces autism-like changes in behavior, neuroinflammatory profile and gut microbiota in mouse offspring of both sexes. Transl Psychiatry;2022 (Sep 14);12(1):384.

Autism Spectrum Disorder (ASD) is a sex-biased neurodevelopmental disorder with a male to female prevalence of 4:1, characterized by persistent deficits in social communication and interaction and restricted-repetitive patterns of behavior, interests or activities. Microbiota alterations as well as signs of neuroinflammation have been also reported in ASD. The involvement of immune dysregulation in ASD is further supported by evidence suggesting that maternal immune activation (MIA), especially during early pregnancy, may be a risk factor for ASD. The present study was aimed at characterizing the effects of MIA on behavior, gut microbiota and neuroinflammation in the mouse offspring also considering the impact of MIA in the two sexes. MIA offspring exhibited significant ASD-like behavioral alterations (i.e., deficits in sociability and sensorimotor gating, perseverative behaviors). The analysis of microbiota revealed changes in specific microbial taxa that recapitulated those seen in ASD children. In addition, molecular analyses indicated sex-related differences in the neuroinflammatory responses triggered by MIA, with a more prominent effect in the cerebellum. Our data suggest that both sexes should be included in the experimental designs of preclinical studies in order to identify those mechanisms that confer different vulnerability to ASD to males and females.

Lien vers le texte intégral (Open Access ou abonnement)

22. Thudium S, Palozola K, L’Her É, Korb E. Identification of a transcriptional signature found in multiple models of ASD and related disorders. Genome Res;2022 (Sep 14)

Epigenetic regulation plays a critical role in many neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD). In particular, many such disorders are the result of mutations in genes that encode chromatin-modifying proteins. However, although these disorders share many features, it is unclear whether they also share gene expression disruptions resulting from the aberrant regulation of chromatin. We examined five chromatin modifiers that are all linked to ASD despite their different roles in regulating chromatin. Specifically, we depleted ASH1L, CHD8, CREBBP, EHMT1, and NSD1 in parallel in a highly controlled neuronal culture system. We then identified sets of shared genes, or transcriptional signatures, that are differentially expressed following loss of multiple ASD-linked chromatin modifiers. We examined the functions of genes within the transcriptional signatures and found an enrichment in many neurotransmitter transport genes and activity-dependent genes. In addition, these genes are enriched for specific chromatin features such as bivalent domains that allow for highly dynamic regulation of gene expression. The down-regulated transcriptional signature is also observed within multiple mouse models of NDDs that result in ASD, but not those only associated with intellectual disability. Finally, the down-regulated transcriptional signature can distinguish between control and idiopathic ASD patient iPSC-derived neurons as well as postmortem tissue, demonstrating that this gene set is relevant to the human disorder. This work identifies a transcriptional signature that is found within many neurodevelopmental syndromes, helping to elucidate the link between epigenetic regulation and the underlying cellular mechanisms that result in ASD.

Lien vers le texte intégral (Open Access ou abonnement)

23. Zhang Y, Yao S, Schmitt H, Becker B, Kendrick KM, Montag C. Molecular genetic associations between a prominent serotonin transporter gene polymorphism (5-HTTLPR/rs25531) and individual differences in tendencies toward autistic traits and generalized internet use disorder in China and Germany. Brain Behav;2022 (Sep 15):e2747.

BACKGROUND: The serotonin transporter polymorphism 5-HTTLPR is an extensively investigated genetic marker of autistic traits or autism spectrum disorder, and recently has also been studied in the realm of internet use disorder (IUD), yet the findings remain controversial. Therefore, the present study aimed to explore associations between 5-HTTLPR (also including SNP rs25531) and autistic traits/IUD tendencies and to assess whether the relationship between autistic traits and IUD tendencies varies by this genetic marker in participants from China and Germany. METHODS: A total of 540 Chinese and 563 German subjects were genotyped for 5-HTTLPR/rs25531 and completed the Adult Autism Spectrum Quotient questionnaire and the short version of the Internet Addiction Test. RESULTS: Carriers of the low expressing S’S’ genotype (S, L(G) ) showed significantly higher levels of autistic traits than the high expressing allele (e.g. L(A) ) carriers in both samples. There was no significant effect of 5-HTTLPR/rs25531 on IUD either in the Chinese or Germany samples, whereas positive correlations between autistic traits and IUD varied by 5-HTTLPR/rs25531 genotypes and also differed between Chinese and German samples. In the Chinese sample, positive correlations were mainly driven by S’S’ and S’L’ carriers, while they were mainly determined by S’L’ and L’L’ carriers in the German sample. Further analyses revealed that the associations between autistic traits and IUD tended in parts to be more strongly pronounced in the complete German sample compared to the complete Chinese sample, and also varied depending on 5-HTTLPR/rs25531 genotypes (in S’S’ carriers: China > Germany; in S’L’ and L’L’ carriers: China < Germany; both in terms of more positive associations). CONCLUSIONS: Our findings suggest carriers of low expressing alleles (S, L(G) ) are more likely to show higher autistic traits in both Chinese and German samples. Furthermore, the present work shows that both 5-HTTLPR/rs25531 and cultural differences might be of relevance to understand associations between autistic traits and IUD tendencies, but this needs to be further backed up.

Lien vers le texte intégral (Open Access ou abonnement)