1. Angkustsiri K, Fussell JJ, Bennett A, Schauer J, Ramirez-Celis A, Hansen RL, Van de Water J. Pilot Study of Maternal Autoantibody-Related Autism. J Dev Behav Pediatr;2022 (Jun 1)

OBJECTIVE: The objective of this study was to investigate the presence of maternal autoantibody-related autism spectrum disorder (MAR-ASD) in 2 geographically distinct DBPNet clinical sites (Pennsylvania and Arkansas). MAR-ASD is a biologically defined subtype of ASD that is defined by the presence of autoantibodies specific to proteins in the fetal brain and present in approximately 20% of a Northern California sample but has not been studied in other states. METHODS: Sixty-eight mothers of children with ASD were recruited from 2 DBPNet clinics and provided blood samples. Mothers also completed behavioral questionnaires about their children, and data from the child’s clinical diagnostic assessment were abstracted. RESULTS: The mean age of mothers was 38.5 ± 6.1 years, and the mean age of children was 8.3 ± 2.7 years. MAR-ASD was present in 24% of the sample and similar across sites. Children of +MAR mothers had more severe autism symptoms as measured by Autism Diagnostic Observation Schedule comparison scores (W = 3604; p < 0.001) and the Social Communication Questionnaire (W = 4556; p < 0.001). There were no differences in IQ, adaptive function, or aberrant behavior. CONCLUSION: MAR-ASD is a subtype of autism that is present in similar frequencies across 3 states and related to autism severity.

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2. Biller MF, Yeager KA. Lexical Acquisition and Phonological Development in Minimally Verbal Children With Autism Spectrum Disorders. Lang Speech Hear Serv Sch;2022 (Aug 10):1-14.

PURPOSE: This study examines two components of lexical acquisition and phonological development that occur during the first 50-word stage of language development in neurotypical (NT) children. One component is how children learn words based on their existing speech sound inventories (i.e., in-phonology and out-of-phonology word learning). The other component is the relationship between the children’s number of words and the number of phonemes in their speech sound inventories. The goal of this study is to determine if the same two components occur in children with autism spectrum disorders (ASDs) who are older than their NT peers but are in the same stage of lexical development. METHOD: This study involved 20 minimally verbal children with ASDs, ages 28-72 months, who produced five to 50 spoken words. The children’s spoken words were obtained from the MacArthur-Bates Communicative Development Inventories. The speech sound inventories were obtained from the utterances produced during assessment/play sessions with the children. The children’s spoken words from the Communicative Development Inventories (CDI) were categorized as either in-phonology or out-of-phonology based on whether the words began with a phoneme in the child’s existing speech sound inventory. Additionally, the children’s number of spoken words on the CDI was compared to the number of phonemes in their speech sound inventories. RESULTS: The children in this study produced in-phonology words more often than out-of-phonology words (z = -3.922; p < .001). Moreover, there was a moderate positive correlation between the children's number of spoken words and the number of phonemes in their speech sound inventories (r = .534, p = .019). CONCLUSIONS: The relationship between lexical acquisition and phonological development appears to exist for the children in this study, who are in the first 50-word stage of development. Clinical implications for increasing the expressive language of children with ASDs were discussed.

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3. Boilson AM, Churchard A, Connolly M, Casey B, Sweeney MR. Screening for Autism Spectrum Condition Through Inner City Homeless Services in the Republic of Ireland. J Autism Dev Disord;2022 (Aug 10):1-12.

Homeless service users were screened for autism spectrum disorder through one of Ireland’s leading not for profit service providers. Keyworkers acted as proxy informants; their caseloads were screened using the DSM-5-Autistic Traits in the Homeless Interview (DATHI). Client current and historical health and behaviour data was collated. A representative sample of 106 eligible keyworkers caseloads were screened, identifying 3% « present » and 9% « possibly present » for autistic traits with the DATHI. These findings suggest a high estimate of autism prevalence and support emerging evidence that, people with autism are overrepresented in the homeless population, compared to housed populations. Autism may be a risk factor for entry into homelessness and a challenge to exiting homeless and engaging with relevant services.

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4. Castro-Kemp S, Orcid AM. Silver linings of the Covid-19 pandemic… for some! Comparing Experiences and Social demographic characteristics of autistic and non-autistic children with SEND in England. J Autism Dev Disord;2022 (Aug 9):1-12.

Several studies on the impact of Covid-19 on children’s wellbeing have been published, including for those with Special Educational Needs and Disabilities. However, limited evidence is available on who these children may be, their socioeconomic background, age, gender or type of school attended. This study examines the role of socio-demographic characteristics on the experiences of Autistic Children, compared to non-Autistic children, to assess the detrimental impact of the pandemic, but also potential silver linings. Primary-school aged Autistic children were more likely to mention a silver lining (for mental health), as well as younger non-Autistic children from more affluent backgrounds. Similar effects were observed for older non-Autistic boys with special needs attending mainstream settings (regarding physical health).

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5. Choi KR, Becerra-Culqui TA, Tejada G, Coleman KJ, Bhakta B, Knight EA, Gahre TL, Zima B. Habilitative Teletherapy for Children with Autism Spectrum Disorder: A Survey of Parents. J Dev Behav Pediatr;2022 (Jun 28)

OBJECTIVE: The purpose of this study was to investigate whether service losses during the coronavirus disease 2019 (COVID-19) pandemic were associated with worsened parent mental health or child behavioral health among families of children with autism spectrum disorder and to identify factors associated with favorable parent appraisals of habilitative teletherapy (applied behavior analysis; speech, occupational, physical therapy) for their child. METHOD: This web-based survey study was conducted from May to July 2021 with parents whose children were receiving habilitative therapy for autism from an integrated health system. A total of 322 parents responded to the survey (20% response rate). The outcome variables were pandemic-related parent mental health, pandemic-related child behavioral health, and appraisal of habilitative teletherapy. Predictors were COVID-19-related services changes in health care or child care, COVID-19 history (COVID-19 stress, testing positive for COVID-19), and child autism factors (autistic behaviors, caregiving strain). RESULTS: Loss of regular child care was associated with higher odds of worsened parent mental health (odds ratio [OR] = 2.7, 95% confidence interval [CI] = 1.5-4.8); higher levels of caregiving strain were associated with worsened child behavioral health (OR = 2.3, 95% CI = 1.4-3.8). Higher levels of COVID-19 stress were associated with more favorable appraisals of telehealth (β = 0.4, p < 0.01), whereas higher caregiving strain scores were associated with less favorable appraisals of telehealth (β = -0.2, p < 0.01). CONCLUSION: During COVID-19, caregiving factors were associated with worsened parent mental health and worsened child behavioral health, and telehealth is not preferred by all families. Policy interventions to support caregivers, such as affordable, high-quality child care and paid family leave, are a high priority.

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6. Culnane E, Efron D, Williams K, Marraffa C, Antolovich G, Prakash C, Loftus H. Carer perspectives of a transition to adult care model for adolescents with an intellectual disability and/or autism spectrum disorder with mental health comorbidities. Child Care Health Dev;2022 (Aug 10)

BACKGROUND: Transition to adult care for adolescents with an intellectual disability and/or autism spectrum disorder with coexisting mental health disorders, often termed ‘dual disability’, is complex. It requires a family-centred approach, with collaboration among health, disability and social services and early planning. AIM: To describe carer perspectives of transition to adult care and the outcomes of a transition support intervention, Fearless, Tearless Transition, for adolescents with dual disabilities piloted at a tertiary children’s hospital. METHODS: Carers of adolescents with a dual disability were invited to complete a survey at the commencement of their participation in the Fearless, Tearless Transition model, and again at the conclusion of the project. Within this intervention, carers and adolescents were encouraged to attend dedicated transition clinics and participate in a shared care general practitioner (GP) and paediatrician process. RESULTS: One hundred and fifty-one carers of adolescents with dual disabilities were included in Fearless, Tearless Transition. Of this cohort, 138 adolescents and their carers received support in a dedicated transition clinic with 99 carers completing the initial survey at the commencement of the model. Eighty-two per cent of carers reported moderate to high levels of anxiety about transitioning from paediatric to adult care with 39% feeling ‘unprepared’ about transition. Eighty-one per cent reported having inadequate access to respite care with 47% reporting a lack of access to services in the community and 56% expressing dissatisfaction with their GPs. One hundred and two families participated in the shared care process with 80 GPs and 33 paediatricians. Twenty-two carers completed the second survey reporting a modest but significant improvement in preparedness for transition to adult care. CONCLUSION: This study highlights the potential to improve transition outcomes for adolescents with dual disabilities and their carers through early, centralized transition planning, consistent methods of assessing adolescent and carer needs and shared care.

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7. da Motta TP, Owens J, Abreu LG, Debossan SAT, Vargas-Ferreira F, Vettore MV. Malocclusion characteristics amongst individuals with autism spectrum disorder: a systematic review and meta-analysis. BMC Oral Health;2022 (Aug 10);22(1):341.

BACKGROUND: To estimate the prevalence of malocclusion in individuals with autism spectrum disorders (ASD) and to assess the relationship between ASD and malocclusion. METHODS: We searched electronic databases including PubMed, Scopus, Web of Science, Cochrane, Embase, SciELO LILACS, Proquest, OpenGrey and Google Scholar. There were no language or publication dates restrictions. Two researchers independently performed selection, data extraction and quality assessment. Quality assessment and risk of bias were evaluated through the Newcastle-Ottawa scale and ROBINS-E tool. Meta-analyses using random effect models were used to estimate pooled measures of prevalence of malocclusion characteristics in individuals with ASD and pooled odds ratio (OR) on the relationship between ASD and malocclusion characteristics. Subgroup meta-analyses were conducted according to children and adolescents, history of orthodontic treatment, and occurrence of other syndromes and medical conditions. RESULTS: Searching identified 5549 papers with 238 were selected for full assessment. Eighteen cross-sectional studies were included according to inclusion criteria. Of them, eleven studies were considered of moderate quality. A judgement of critical risk of bias occurred for thirteen studies. The most prevalent malocclusion characteristics in individuals with ASD were crowding (33%; 95% CI 22 to 44%) and increased maxillary overjet (39%; 95% CI 23 to 54%). Individuals with ASD had higher odds of Angle’s Class II (OR 1.92; 95% CI 1.36 to 2.72), Angle’s Class III (OR 2.33; 95% CI 1.29 to 4.23), open bite (OR 1.96; 95% CI 1.21 to 3.16), and increased maxillary overjet (OR 1.53; 95% CI 1.06 to 2.21) than individuals without ASD. CONCLUSIONS: Angle’s Class II, Angle’s Class III, anterior open bite and increased maxillary overjet were more prevalent in individuals with ASD than those without ASD. Further high-quality studies are needed.

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8. Duan G, Han Q, Yao M, Li R. Effects of Rhythmic Gymnastics on Joint Attention and Emotional Problems of Autistic Children: A Preliminary Investigation. Comput Intell Neurosci;2022;2022:2596095.

The adaptive rhythmic gymnastics (ARG) course has been specially designed for children with autism spectrum disorders (ASD). The purpose of this study is to discover the influence of the course on the joint attention and emotional problems of ASD children. This study adopted A-B-A cross-subject multibaseline design in a single case research design. The joint attention behaviour of two 6-year-old ASD children was examined. The experiment process was recorded and coded, and the results were analysed. The results illustrated the following: (1) ARG is effective in promoting the development of joint attention in ASD children, but it has a better effect on increasing responding joint attention, and (2) to a certain extent, ARG can boost the classroom participation of ASD children and improve their emotional problems.

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9. Fóthi Á, Pintér C, Pollner P, Lőrincz A. Peripheral gene interactions define interpretable clusters of core ASD genes in a network-based investigation of the omnigenic theory. NPJ Syst Biol Appl;2022 (Aug 10);8(1):28.

According to the recently proposed omnigenic theory, all expressed genes in a relevant tissue are contributing directly or indirectly to the manifestation of complex disorders such as autism. Thus, holistic approaches can be complementary in studying genetics of these complex disorders to focusing on a limited number of candidate genes. Gene interaction networks can be used for holistic studies of the omnigenic nature of autism. We used Louvain clustering on tissue-specific gene interaction networks and their subgraphs exclusively containing autism-related genes to study the effects of peripheral gene interactions. We observed that the autism gene clusters are significantly weaker connected to each other and the peripheral genes in non-neuronal tissues than in brain-related tissues. The biological functions of the brain clusters correlated well with previous findings on autism, such as synaptic signaling, regulation of DNA methylation, or regulation of lymphocyte activation, however, on the other tissues they did not enrich as significantly. Furthermore, ASD subjects with disruptive mutations in specific gene clusters show phenotypical differences compared to other disruptive variants carrying ASD individuals. Our results strengthen the omnigenic theory and can advance our understanding of the genetic background of autism.

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10. Ganta A, S SP, Fredette ME, Topor LS. Severe Vitamin D Deficiency in Youth with Autism Spectrum Disorder During the COVID-19 Pandemic. J Dev Behav Pediatr;2022 (Jun 15)

BACKGROUND: Decrease in sunlight exposure during periods of social distancing during the COVID-19 pandemic increased the risk of severe manifestations of vitamin D deficiency (VDD) in a particular « high-risk » population. Our objective was to highlight the importance of vitamin D screening in youth with autism spectrum disorder (ASD) and restrictive eating. CASE PRESENTATION: We describe 3 adolescent male patients with ASD who developed severe manifestations of VDD and hypocalcemia in late 2020 during the COVID-19 pandemic. All spent less time outdoors than in prior years because of isolation at home during the pandemic. Presenting symptoms included seizures and atraumatic fractures. All 3 were found to have hypocalcemia and severe VDD. Limited sun exposure because of isolation indoors during the COVID-19 pandemic was a likely contributing factor to the severity of VDD. All 3 were treated with intravenous calcium acutely, followed by oral calcium and vitamin D. Laboratory tests performed post-treatment showed biochemical resolution of hypocalcemia and VDD. CONCLUSION: These cases highlight the importance of screening « at-risk » youth for VDD. Clinicians should be cognizant that children and adolescents with ASD and restricted eating can have severe manifestations of hypocalcemia and VDD. Decreased sun exposure because of isolating indoors during the COVID-19 pandemic increased their risk for this.

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11. James P, Schafer E, Wolfe J, Matthews L, Browning S, Oleson J, Sorensen E, Rance G, Shiels L, Dunn A. Increased rate of listening difficulties in autistic children. J Commun Disord;2022 (Sep-Oct);99:106252.

INTRODUCTION: Auditory challenges are both common and disruptive for autistic children and evidence suggests that listening difficulties may be linked to academic underachievement (Ashburner, Ziviani & Rodger, 2008). Such deficits may also contribute to issues with attention, behavior, and communication (Ashburner et al., 2008; Riccio, Cohen, Garrison & Smith, 2005). The present study aims to summarize the auditory challenges of autistic children with normal pure-tone hearing thresholds, and perceived listening difficulties, seen at auditory-ASD clinics in the US and Australia. METHODS: Data were compiled on a comprehensive, auditory-focused test battery in a large clinical sample of school-age autistic children with normal pure-tone hearing to date (N = 71, 6-14 years). Measures included a parent-reported auditory sensory processing questionnaire and tests of speech recognition in noise, binaural integration, attention, auditory memory and listening comprehension. Individual test performance was compared to normative data from children with no listening difficulties. RESULTS: Over 40% of patients exhibited significantly reduced speech recognition in noise and abnormal dichotic integration that were not attributed to deficits in attention. The majority of patients (86%) performed abnormally on at least one auditory measure, suggesting that functional auditory issues can exist in autistic patients despite normal pure-tone sensitivity. CONCLUSION: Including functional listening measures during audiological evaluations may improve clinicians’ ability to detect and manage the auditory challenges impacting this population. Learner Outcomes: 1) Readers will be able to describe the auditory difficulties experienced by some autistic patients (ASD). 2) Readers will be able to describe clinical measures potentially useful for detecting listening difficulties in high-functioning autistic children.

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12. Kaiser FMP, Gruenbacher S, Oyaga MR, Nio E, Jaritz M, Sun Q, van der Zwaag W, Kreidl E, Zopf LM, Dalm V, Pel J, Gaiser C, van der Vliet R, Wahl L, Rietman A, Hill L, Leca I, Driessen G, Laffeber C, Brooks A, Katsikis PD, Lebbink JHG, Tachibana K, van der Burg M, De Zeeuw CI, Badura A, Busslinger M. Biallelic PAX5 mutations cause hypogammaglobulinemia, sensorimotor deficits, and autism spectrum disorder. J Exp Med;2022 (Sep 5);219(9)

The genetic causes of primary antibody deficiencies and autism spectrum disorder (ASD) are largely unknown. Here, we report a patient with hypogammaglobulinemia and ASD who carries biallelic mutations in the transcription factor PAX5. A patient-specific Pax5 mutant mouse revealed an early B cell developmental block and impaired immune responses as the cause of hypogammaglobulinemia. Pax5 mutant mice displayed behavioral deficits in all ASD domains. The patient and the mouse model showed aberrant cerebellar foliation and severely impaired sensorimotor learning. PAX5 deficiency also caused profound hypoplasia of the substantia nigra and ventral tegmental area due to loss of GABAergic neurons, thus affecting two midbrain hubs, controlling motor function and reward processing, respectively. Heterozygous Pax5 mutant mice exhibited similar anatomic and behavioral abnormalities. Lineage tracing identified Pax5 as a crucial regulator of cerebellar morphogenesis and midbrain GABAergic neurogenesis. These findings reveal new roles of Pax5 in brain development and unravel the underlying mechanism of a novel immunological and neurodevelopmental syndrome.

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13. Keeratitanont K, Theerakulpisut D, Auvichayapat N, Suphakunpinyo C, Patjanasoontorn N, Tiamkao S, Tepmongkol S, Khiewvan B, Raruenrom Y, Srisuruk P, Paholpak S, Auvichayapat P. Brain laterality evaluated by F-18 fluorodeoxyglucose positron emission computed tomography in autism spectrum disorders. Front Mol Neurosci;2022;15:901016.

BACKGROUND AND RATIONALE: Autism spectrum disorder (ASD) is a neuropsychiatric disorder that has no curative treatment. Little is known about the brain laterality in patients with ASD. F-18 fluorodeoxyglucose positron emission computed tomography (F-18 FDG PET/CT) is a neuroimaging technique that is suitable for ASD owing to its ability to detect whole brain functional abnormalities in a short time and is feasible in ASD patients. The purpose of this study was to evaluate brain laterality using F-18 FDG PET/CT in patients with high-functioning ASD. MATERIALS AND METHODS: This case-control study recruited eight ASD patients who met the DSM-5 criteria, the recorded data of eight controls matched for age, sex, and handedness were also enrolled. The resting state of brain glucose metabolism in the regions of interest (ROIs) was analyzed using the Q.Brain software. Brain glucose metabolism and laterality index in each ROI of ASD patients were compared with those of the controls. The pattern of brain metabolism was analyzed using visual analysis and is reported in the data description. RESULTS: The ASD group’s overall brain glucose metabolism was lower than that of the control group in both the left and right hemispheres, with mean differences of 1.54 and 1.21, respectively. We found statistically lower mean glucose metabolism for ASD patients than controls in the left prefrontal lateral (Z = 1.96, p = 0.049). The left laterality index was found in nine ROIs for ASD and 11 ROIs for the control. The left laterality index in the ASD group was significantly lower than that in the control group in the prefrontal lateral (Z = 2.52, p = 0.012), precuneus (Z = 2.10, p = 0.036), and parietal inferior (Z = 1.96, p = 0.049) regions. CONCLUSION: Individuals with ASD have lower brain glucose metabolism than control. In addition, the number of ROIs for left laterality index in the ASD group was lower than control. Left laterality defects may be one of the causes of ASD. This knowledge can be useful in the treatment of ASD by increasing the left-brain metabolism. This trial was registered in the Thai Clinical Trials Registry (TCTR20210705005).

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14. Kim H, Woo RS, Yang EJ, Kim HB, Jo EH, Lee S, Im H, Kim S, Kim HS. Transcriptomic analysis in the striatum reveals the involvement of Nurr1 in the social behavior of prenatally valproic acid-exposed male mice. Transl Psychiatry;2022 (Aug 9);12(1):324.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that exhibits neurobehavioral deficits characterized by abnormalities in social interactions, deficits in communication as well as restricted interests, and repetitive behaviors. The basal ganglia is one of the brain regions implicated as dysfunctional in ASD. In particular, the defects in corticostriatal function have been reported to be involved in the pathogenesis of ASD. Surface deformation of the striatum in the brains of patients with ASD and their correlation with behavioral symptoms was reported in magnetic resonance imaging (MRI) studies. We demonstrated that prenatal valproic acid (VPA) exposure induced synaptic and molecular changes and decreased neuronal activity in the striatum. Using RNA sequencing (RNA-Seq), we analyzed transcriptome alterations in striatal tissues from 10-week-old prenatally VPA-exposed BALB/c male mice. Among the upregulated genes, Nurr1 was significantly upregulated in striatal tissues from prenatally VPA-exposed mice. Viral knockdown of Nurr1 by shRNA significantly rescued the reduction in dendritic spine density and the number of mature dendritic spines in the striatum and markedly improved social deficits in prenatally VPA-exposed mice. In addition, treatment with amodiaquine, which is a known ligand for Nurr1, mimicked the social deficits and synaptic abnormalities in saline-exposed mice as observed in prenatally VPA-exposed mice. Furthermore, PatDp+/- mice, a commonly used ASD genetic mouse model, also showed increased levels of Nurr1 in the striatum. Taken together, these results suggest that the increase in Nurr1 expression in the striatum is a mechanism related to the changes in synaptic deficits and behavioral phenotypes of the VPA-induced ASD mouse model.

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15. Kloidt B, Blatz L, Flemming M, von Spee L, Giersdorf M. [Challenges and Influencial Factors in Autism-Specific Diagnostics in Toddlers]. Z Kinder Jugendpsychiatr Psychother;2022 (Aug 9)

Challenges and Influencial Factors in Autism-Specific Diagnostics in Toddlers Abstract. Objective: What are the particular challenges that make early diagnosis of young children difficult in the clinical routine? What recommendations can be derived from this in practice? Methods: Our interdisciplinary social pediatric team examined 31 toddlers aged 2 to 3 years twice in intervals of 6-9 months in the for outpatient diagnostics regarding suspected autism spectrum disorder (ASD). In addition, we conducted an online survey with further experts. Results: After the first anamnestic interview, 8 of the 31 (26 %) children were diagnosed with a differential diagnosis of ASD. Comorbid disorders, familial peculiarities, and challenges posed by the examination setting and anamnesis made a reliable clinical classification difficult. Conclusion: In our experience, many toddlers can only receive a valid diagnosis after a follow-up examination after starting one or more therapies and regularly carrying out these therapies over a period of 6-9 months and possibly also after structural changes have taken place (care in nursery, implementation of youth welfare measures, or similar).

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16. Leung CNW, Tsang B, Huang DH, Chan RWS. Building Self-Efficacy in Parenting Adult Children With Autistic Spectrum Disorder: An Initial Investigation of a Two-Pronged Approach in Role Competence. Front Psychol;2022;13:841264.

Previous studies on parenting adult children with ASD were scarce, and their intervention protocols mainly were derived from established work with children. Development of an applicable adult-oriented protocol and demonstration of its effectiveness is warranted. The present study outlined the development and evaluation of Core Autism Parenting Skills (CAPS), which targets to enhance parenting self-efficacy (PSE) intervention for adult children with ASD by addressing two intervention goals in parallel: acquisition of parenting skills and cultivating positive attributes. In CAPS, PSE is operationalised into four parent roles: to observe, reinforce, empathise, and accompany, each with requisite attributes, skills, and prescribed training. Twenty-seven parents with adult children with ASD (aged 16-37) were recruited. They completed measures assessing their PSE, competence in the four parent roles, and emotional well-being at pre-training, post-training and 2-month follow-up. The intervention was well-received by the participants and reported significant improvements in PSE, parent role competence at post-training and 2-month follow-up. The applicability of PSE and parent role competence in constructing effective parenting intervention for adult children with ASD was supported.

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17. Liang SC, Sun CK, Fan HY, Chung W, Tzang RF, Hung KC, Chiu HJ, Cheng YS, Yeh PY. Therapeutic effects of antidepressants for global improvement and subdomain symptoms of autism spectrum disorder: a systematic review and meta-analysis. J Psychiatry Neurosci;2022 (Jul-Aug);47(4):E299-E310.

BACKGROUND: No established pharmacological treatment is available for the core symptoms of autism spectrum disorder (ASD). This study aimed at investigating the efficacy of antidepressants for the core and associated symptoms of ASD. METHODS: We searched PubMed, Embase, ClinicalKey, Cochrane CENTRAL, ScienceDirect, Web of Science and ClinicalTrials.gov using the keywords « ASD » and « antidepressants. » We searched from database inception to June 2021 for randomized controlled trials of antidepressant use in patients with ASD. We calculated pooled effect sizes based on a random-effects model. RESULTS: Analysis of 16 studies with 899 participants showed improvements in restricted and repetitive behaviours (effect size = 0.27) and global symptoms (effect size = 1.0) in patients with ASD taking antidepressants versus those taking placebos (p ≤ 0.01). We found no differences between the 2 groups (p ≥ 0.36) in terms of dropout rate (odds ratio [OR] = 1.17) or rate of study discontinuation because of adverse events (OR = 1.05). We also noted improvements in irritability and hyperactivity in the antidepressant group (Hedges g = 0.33 and 0.22, respectively, both p < 0.03). Subgroup analyses showed significant effects of medication type (i.e., clomipramine was better than SSRIs) and age (antidepressants were more effective in adults than in children or adolescents) on both restricted and repetitive behaviours and global improvement (p < 0.05). Meta-regression demonstrated that better therapeutic effects were associated with lower symptom severity and older age. LIMITATIONS: The small effect sizes and variations in treatment response that we found warrant further study. CONCLUSION: Our results supported the effectiveness of antidepressants for global symptoms and symptom subdomains of ASD, with tolerable adverse effects. Low symptom severity and adulthood were associated with better outcomes.

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18. Lim S, Lee S. Chemical Modulators for Targeting Autism Spectrum Disorders: From Bench to Clinic. Molecules;2022 (Aug 10);27(16)

Autism spectrum disorders (ASD) are neurodevelopmental disorders characterized by diverse behavioral symptoms such as repetitive behaviors, social deficits, anxiety, hyperactivity, and irritability. Despite their increasing incidence, the specific pathological mechanisms of ASD are still unknown, and the degree and types of symptoms that vary from patient to patient make it difficult to develop drugs that target the core symptoms of ASD. Although various atypical antipsychotics and antidepressants have been applied to regulate ASD symptoms, these drugs can only alleviate the symptoms and do not target the major causes. Therefore, development of novel drugs targeting factors directly related to the onset of ASD is required. Among the various factors related to the onset of ASD, several chemical modulators to treat ASD, focused on serotonin (5-hydroxytryptamine, 5-HT) and glutamate receptors, microbial metabolites, and inflammatory cytokines, are explored in this study. In particular, we focus on the chemical drugs that have improved various aspects of ASD symptoms in animal models and in clinical trials for various ages of patients with ASD.

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19. Loo KK, Cheng J, Sarco D, Nyp SS. Diagnostic Overshadowing: Insidious Neuroregression Mimicking Presentation of Autism Spectrum Disorder. J Dev Behav Pediatr;2022 (Jul 4)

Zac is a 13-year-old boy who presented with his parents to developmental-behavioral pediatrics seeking diagnostic clarity. He was born by vaginal delivery at full term after an uncomplicated pregnancy. Developmental milestones were met at typical ages until he was noted to have language delay and to be hyperactive and impulsive on entering preschool at age 4 years. Although he used some phrases in speech, he often used physical force to take toys from other children, rather than using words.On entering preschool at age 4 years, he was noted to have language delay (i.e., continued use of phrase speech only) and to be hyperactive and impulsive. An evaluation to determine eligibility for an Individualized Education Program (IEP) was completed and found him to have delays in cognition, receptive language, expressive language, social-emotional, and adaptive skills. His fine motor skills were in the low average range, and his gross motor skills were in the average range. He was admitted into an early childhood special education program, and aggressive behavior and hyperactivity decreased in the structured classroom.At age 7 years, Zac was re-evaluated by the school district and found to have moderate intellectual disability (ID). Chromosomal microarray analysis and testing for Fragile X syndrome were normal. He was noted to enjoy interacting with other children and adults, but his play was very immature (e.g., preference for cause/effect toys). He was able to respond appropriately when asked his name and age, but he also frequently demonstrated echolalia. He was also evaluated by his primary care physician and found to meet the criteria for attention-deficit/hyperactivity disorder, combined presentation (ADHD). Treatment with methylphenidate was initiated but discontinued after a brief time because of increased aggressive behaviors.Owing to continued significant tantrums, aggressive tendencies, and inability to communicate his basic needs, Zac was evaluated at a local Regional Center (statewide system for resources and access to services for individuals with developmental disabilities) at age 10 years and found to meet the criteria for autism spectrum disorder (ASD), and previous diagnosis of ID was confirmed. Zac received applied behavior analysis (ABA), but this was discontinued after 1 year because of a combination of a change in the insurance provider and parental perception that the therapy had not been beneficial.Zac became less hyperactive and energetic as he grew older. By the time Zac presented to the developmental-behavioral clinic at age 13 years, he was consistently using approximately 30 single words and was no longer combining words into phrases. He had a long latency in responding to verbal and nonverbal cues and seemed to be quite withdrawn. Physical examination revealed scoliosis and hand tremors while executing fine motor tasks. Seizures were not reported, but neuromotor regression was apparent from the examination and history. Laboratory studies including thyroid-stimulating hormone, free T4, creatine kinase, very-long-chain fatty acids, lactate, pyruvate, urine organic acids, and plasma amino acids were normal. Cranial magnetic resonance imaging demonstrated abnormal T2 hyperintensities in the periventricular and deep cerebral white matter and peridentate cerebellar white matter, consistent with a « tigroid » pattern seen in metachromatic leukodystrophy (MLD) and other white matter neurodegenerative diseases. Arylsulfatase A mutation was detected with an expanded ID/ASD panel, and leukocyte arylsulfatase activity was low, confirming the diagnosis of juvenile-onset MLD.Are there behavioral markers and/or historical caveats that clinicians can use to distinguish between ASD/ID with coexisting ADHD and a neurodegenerative disorder with an insidious onset of regression?

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20. Ramirez M, Badayeva Y, Yeung J, Wu J, Abdalla-Wyse A, Yang E, Trost B, Scherer SW, Goldowitz D. Temporal analysis of enhancers during mouse cerebellar development reveals dynamic and novel regulatory functions. Elife;2022 (Aug 9);11

We have identified active enhancers in the mouse cerebellum at embryonic and postnatal stages which provides a view of novel enhancers active during cerebellar development. The majority of cerebellar enhancers have dynamic activity between embryonic and postnatal development. Cerebellar enhancers were enriched for neural transcription factor binding sites with temporally specific expression. Putative gene targets displayed spatially restricted expression patterns, indicating cell-type specific expression regulation. Functional analysis of target genes indicated that enhancers regulate processes spanning several developmental epochs such as specification, differentiation and maturation. We use these analyses to discover one novel regulator and one novel marker of cerebellar development: Bhlhe22 and Pax3, respectively. We identified an enrichment of de novo mutations and variants associated with autism spectrum disorder in cerebellar enhancers. Furthermore, by comparing our data with relevant brain development ENCODE histone profiles and cerebellar single-cell datasets we have been able to generalize and expand on the presented analyses, respectively. We have made the results of our analyses available online in the Developing Mouse Cerebellum Enhancer Atlas, where our dataset can be efficiently queried, curated and exported by the scientific community to facilitate future research efforts. Our study provides a valuable resource for studying the dynamics of gene expression regulation by enhancers in the developing cerebellum and delivers a rich dataset of novel gene-enhancer associations providing a basis for future in-depth studies in the cerebellum.

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21. Soares N, Allely CS, Straub F, Penner M. Autism Spectrum Disorder, Extremism, and the Role of Developmental-Behavioral Pediatric Clinicians. J Dev Behav Pediatr;2022 (Jul 6)

Extremism is a global phenomenon, with an increasing domestic and international presence. Extremists recruit persons to their causes through online forums that spread hate-filled narratives and promote violence. Individuals with autism spectrum disorder may be vulnerable to recruitment through these online forums, and clinicians who work with autistic adolescents, young adults, and their families should familiarize themselves with the risk and identify strategies based on a multidisciplinary approach in the early identification, holistic prevention, and care-based intervention strategies of at-risk adolescents. This special article, representing an international collaboration between developmental-behavioral pediatrics, law enforcement, and psychology, hopes to shed light on the issue for clinicians.

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22. Tie X, Yang Y, He C, Zhang L, Che F. [Analysis of clinical feature and genetic variants in two Chinese pedigrees affected with Bainbridge-Ropers syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi;2022 (Aug 10);39(8):836-841.

OBJECTIVE: To analyze the clinical features and genetic variants in two unrelated patients with psychomotor retardation and facial abnormalities, and to explore their genotype-phenotype correlation. METHODS: Clinical data and family history of the two pedigrees were collected. Whole exome sequencing (WES) and Sanger sequencing were carried out to detect the potential variants. RESULTS: Both patients had presented with mental and language retardation, along with growth delay and facial anomalies. They were both found to harbor de novo loss-of-function variants in exon 12 of the ASXL3 gene, namely c.3096dup (p.Pro1033Thrfs*2) and c.3253G>T (p.Gly1085*). Neither variant was reported previously. Combined with their clinical features and genetic finding, both patients were diagnosed with Bainbridge-Ropes syndrome due to pathogenic variants of the ASXL3 gene. CONCLUSION: Diagnosis of Bainbridge Ropes syndrome in the two pedigrees has enriched the genotypic and phenotypic spectrum of this disorder and enabled genetic counseling for them.

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23. Tsuji C, Furuhara K, Mizutani R, Minami K, Fu P, Zhong J, Higashida H, Yokoyama S, Tsuji T. Early-onset of social communication and locomotion activity in F2 pups of a valproic acid-induced mouse model of autism. Neurosci Lett;2022 (Aug 6);788:136827.

Autism spectrum disorder (ASD) is a heterogeneously pervasive developmental disorder that usually occurs before 3 years old. Animal models of psychiatric disorders are essential for elucidating the underlying preclinical neural mechanisms. Mice that are prenatally exposed to valproic acid (VPA, F1) are widely used as an ASD model. Epigenetics has recently been suggested as a contributor to ASD etiology with the hypothesis that epigenetic marks can be transgenerationally inherited. Previous studies have indicated that autism-like behavioral phenotypes detected in F1 VPA mice transgenetically appear in F2 and F3 generations. However, studies on the autism-like behavioral phenotypes during the early postnatal days in subsequent generations are scarce. Here, the behavioral deficit on postnatal day 5 of the F2 generation was examined to assess the onset of ASD symptoms. Communication disorders were examined by analyzing maternal separation-induced ultrasonic vocalizations (USVs). Although the duration and frequency of USVs were not significantly altered, the emission rate was significantly lower in F2 VPA pups. Furthermore, the locomotive activity with or without littermates was altered in F2 VPA pups. The data of the current study suggest that social deficit and impaired locomotion are inherited by the subsequent generation and were apparent on early postnatal day 5.

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24. Welch C, Senman L, Loftin R, Picciolini C, Robison J, Westphal A, Perry B, Nguyen J, Jachyra P, Stevenson S, Aggarwal J, Wijekoon S, Baron-Cohen S, Penner M. Understanding the Use of the Term « Weaponized Autism » in An Alt-Right Social Media Platform. J Autism Dev Disord;2022 (Aug 10)

BACKGROUND: The term « weaponized autism » is frequently used on extremist platforms. To better understand this, we conducted a discourse analysis of posts on Gab, an alt-right social media platform. METHODS: We analyzed 711 posts spanning 2018-2019 and filtered for variations on the term « weaponized autism ». RESULTS: This term is used mainly by non-autistic Gab users. It refers to exploitation of perceived talents and vulnerabilities of « Weaponized autists », described as all-powerful masters-of-technology who are devoid of social skills. CONCLUSIONS: The term « weaponized autism » is simultaneously glorified and derogatory. For some autistic people, the partial acceptance offered within this community may be preferable to lack of acceptance offered in society, which speaks to improving societal acceptance as a prevention effort.

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25. Xu S, Men S, Wang X, Zhan F, Yuan X. [Association of MTHFR gene C677T polymorphism with problem behavior and inheritance pattern among children with autism]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi;2022 (Aug 10);39(8):898-902.

OBJECTIVE: To assess the association of C677T polymorphism of methylenetetrahydrofolate reductase (MTHFR) gene with autistic behavior and inheritance pattern of children patients. METHODS: Ninety three autism patients were selected as the study group, whilst 93 healthy children were selected as the control group. The C677T genotype of the MTHFR gene was determined, and the correlation between the genotype and the autistic behavior and inheritance pattern were investigated. RESULTS: MTHFR gene C677T locus revealed three genotypes CC, CT and TT. Compared with the control group, the study group had fewer CC genotype but more TT genotype (P<0.05). Individuals with the three genotypes showed a statistically significant difference in the frequencies of four problem behaviors (P<0.05). Regression analysis showed that at least one T allele encoding the degree of 1 and 2 for the 4 problem behaviors that were statistically different. MTHFR gene C677T genotype was associated with autism under the recessive inheritance model and allelic inheritance model (P<0.05). CONCLUSION: The C677T polymorphism of the MTHFR gene is associated with autistic behaviors. Children with the TT genotype or T allele are at higher risk of developing autism, particularly direct gaze, complex limb movements, self-injurious behavior and hyperactivity 1 and 2 related with the degree of coding.

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