1. Aljumaiah MM, Alonazi MA, Al-Dbass AM, Almnaizel AT, Alahmed M, Soliman DA, El-Ansary A. Association of Maternal Diabetes and Autism Spectrum Disorders in Offspring: a Study in a Rodent Model of Autism. Journal of molecular neuroscience : MN. 2022; 72(2): 349-58.

The present study investigated that maternal type 1 diabetes may contribute to autism pathogenesis in offspring, and that insulin therapy during pregnancy may prevent the onset of autism. As evidenced, selected brain biomarkers representing the accepted etiological mechanism of autism in newborn rats from diabetic mothers and diabetic mothers receiving insulin therapy compared to the propionic acid (PPA) rodent model of autism were screened. Female Wistar rats with a controlled fertility cycle were randomly divided into three groups: a control group, a group treated with a single dose of 65 mg/kg streptozotocin (STZ) to induce type 1 diabetes (T1D), and a group treated with a single dose of STZ to induce T1D along with insulin therapy. Neonatal rats from these groups were divided into four experimental groups of six animals each: the control group, oral buffered PPA-treated group administered a neurotoxic dose of 250 mg/kg PPA for 3 days to induce autism, neonatal rats from mothers with T1D, and neonatal rats from mothers with T1D receiving insulin therapy. Biochemical parameters of oxidative stress, neuroinflammation, and glutamate excitotoxicity were examined in brain homogenates from all neonatal rats. The development of pathogenic bacteria was monitored in stool samples from all rat groups. Descriptive analyses of changes in fecal microbiota and overgrowth of Clostridium species were performed in diabetic mothers, diabetic mothers treated with insulin therapy, and their offspring. Clostridium species may induce autism-relevant behaviors in offspring from mothers with T1D. Maternal T1D without insulin therapy increased lipid peroxidation levels, reduced GST activity, and lower offspring’ vitamin C and GSH levels. Increased IL-6 levels and reduced GABA levels were detected in brain homogenates from neonatal rats whose mothers had T1D. Interestingly, insulin therapy reduced MDA and IL-6 levels and increased GST, GSH, and vitamin C levels in brain homogenates of neonatal rats from mothers with T1D receiving insulin therapy compared to the PPA-treated group. Based on our results, the PPA-treated group and neonatal rats from mothers with T1D exhibited similar results. These findings suggest that neonatal rats from mothers with T1D may develop autism-relevant biochemical autistic features and that insulin therapy may ameliorate oxidative stress, poor detoxification, inflammation, and excitotoxicity as ascertained mechanisms involved in the etiology of autism.

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2. Anthony N, Bobzien J. Using Two Formats of a Social Story to Increase the Verbal Initiations and On-Topic Responses of Two Adolescents with Autism Spectrum Disorders. Journal of autism and developmental disorders. 2021.

This research used an alternating treatment design to investigate the relative effectiveness of participant specific social stories delivered using two distinct formats (i.e., technology-based, paper/book), on increasing the frequency of initiations and responses of two adolescents with ASD. Visual analysis of baseline, intervention, maintenance, and generalization data results indicated the intervention increased the frequency of initiations and on-topic responses regardless of delivery format; however, calculation of Percentage of Nonoverlapping Pairs and TAU-U for both formats indicated variable levels of effectiveness for each condition, with ranges of 43-86% and 0.02381-0.76190 respectively. Finally, despite varied results, both participants preferred the technology-based social story format and parents of both participants agreed the social story intervention increased communicative skills.

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3. Bottema-Beutel K, Crowley S, Kim SY. Sequence organization of autistic children’s play with caregivers: Rethinking follow-in directives. Autism : the international journal of research and practice. 2021: 13623613211046799.

In this article we use a qualitative method, conversation analysis, to examine videos of caregivers interacting with their young autistic children who are in the early phases of language learning. Conversation analysis involves preparation of detailed transcripts of video data, which are then analyzed together to understand how interactional moves (e.g. talk, gestures, and physical conduct) are linked with prior and subsequent interactional moves. We analyzed data from 15 participants, and focused on instances when caregivers made a proposal about something the child was playing with. In previous research, similar instances have been referred to as « follow-in directives. » We found that these proposals were embedded in sequences that had a similar structure, and were prefaced with a ‘pre-proposal’; where the caregiver established the child’s interest in a joint activity and signaled the upcoming proposal. The caregiver’s talk was also provided in such a way that there was a clear « slot » for the child’s turn, which made it easy for the child’s actions to become part of an interactional sequence. In addition, proposal sequences were very negotiable-the caregivers do not usually insist that the child follow through on the proposal, only that they produce an action that could be taken as a response. Finally, there were some instances where the child’s turn was very precisely timed to occur right at the end of a caregiver’s proposal; this precise timing could signal the child’s understanding of how interactional turn-taking works. We suggest that this method of examining caregiver-child interactions provides new insights into how interactions proceed, which could be useful for future intervention research.

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4. Iwanicki T, Balcerzyk A, Kazek B, Emich-Widera E, Likus W, Iwanicka J, Kapinos-Gorczyca A, Kapinos M, Jarosz A, Grzeszczak W, Górczyńska-Kosiorz S, Niemiec P. Family-Based Cohort Association Study of PRKCB1, CBLN1 and KCNMB4 Gene Polymorphisms and Autism in Polish Population. Journal of autism and developmental disorders. 2021.

The aim of the study was to perform family-based association analysis of PRKCB1, CBLN1 and KCNMB4 gene polymorphisms and autism disorder. We comprised 206 Caucasian children with autistic spectrum disorder (ASD) and their biological parents. In transmission/disequilibrium test we observed that T-allele of the rs198198 polymorphism of the PRKCB1 gene was more often transmitted to affected children in the male subgroup (p = 0.010). Additionally, the T carrier state was significantly associated with hypotonia (p = 0.048). In the female subgroup, the T-allele carriers more often showed more mobile/vital behavior (p = 0.046). In conclusion, our study showed that the rs198198 of the PRKCB1 gene may be associated with ASD in men and with some features characteristic for the disorder.

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5. Lucas HM, Lewis AM, Lupo PJ, Schaaf CP. Parental perceptions of genetic testing for children with autism spectrum disorders. American journal of medical genetics Part A. 2022; 188(1): 178-86.

Children with autism spectrum disorder (ASD) routinely undergo genetic testing (GT) to identify the causative genetic etiology of their ASD. As there are questions about the impact of GT beyond clinical diagnosis, we conducted a mixed methods study to assess the perceived benefits of GT by exploring factors that lead parents to pursue these tests and the benefits experienced. Respondents were part of a pretest or posttest group. The pretest group (N = 22) expressed intent to pursue GT and the posttest group (N = 32) had undergone GT and received results at least 3 months prior to completing the survey. Responses were compared between and within groups. Free text responses were coded for themes and selection questions were analyzed using Fisher’s exact tests. Our results demonstrate significant differences between the groups with participants in the pretest group more likely to choose « increased access to therapies » (p = 0.026) and « improved healthcare » (p < 0.000) as reasons to pursue testing. Benefits were also significantly different with "improved healthcare" (p = 0.009), "improved access to services" (p = 0.012), and "improved access to therapies" (p = 0.003) more frequently anticipated by the pretest group than reported by the posttest group. A relationship between GT and clinical management changes was reported by 34.4-50.0% of the posttest group. Among that group, genetic result type (positive, negative, or variant of uncertain significance) was associated with differing perceived benefits of testing. Thematic analysis revealed increased knowledge and coping as reported benefits in both groups. Our findings indicate a discrepancy between parental expectations and experiences of GT. Comprehensive pretest and posttest genetic counseling are necessary to improve information retention, address potential outcomes, and set expectations of GT for parents of children with ASD.

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6. Mameli C, Cazzola R, Spaccini L, Calcaterra V, Macedoni M, La Verde PA, D’Auria E, Verduci E, Lista G, Zuccotti GV. Neonatal Diabetes in Patients Affected by Liang-Wang Syndrome Carrying KCNMA1 Variant p.(Gly375Arg) Suggest a Potential Role of Ca(2+) and Voltage-Activated K(+) Channel Activity in Human Insulin Secretion. Current issues in molecular biology. 2021; 43(2): 1036-42.

Liang-Wang syndrome (LIWAS) is a polymalformative syndrome first described in 2019 caused by heterozygous mutation of the KCNMA1 gene encoding the Ca(2+) and voltage-activated K(+) channel (BKC). The KCNMA1 variant p.(Gly356Arg) abolishes the function of BKC and blocks the generation of K(+) current. The phenotype of this variant includes developmental delay, and visceral and connective tissue malformations. So far, only three cases of LWAS have been described, one of which also had neonatal diabetes (ND). We present the case of a newborn affected by LIWAS carrying the p.(Gly375Arg) variant who manifested diabetes in the first week of life. The description of our case strongly increases the frequency of ND in LIWAS patients and suggests a role of BK inactivation in human insulin secretion. The knowledge on the role of BKC in insulin secretion is very poor. Analyzing the possible mechanisms that could explain the association of LIWAS with ND, we speculate that BK inactivation might impair insulin secretion through the alteration of ion-dependent membrane activities and mitochondrial functions in β-cells, as well as the impaired intra-islet vessel reactivity.

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7. Mimmo L, Harrison R, Travaglia J, Hu N, Woolfenden S. Inequities in quality and safety outcomes for hospitalized children with intellectual disability. Developmental medicine and child neurology. 2022; 64(3): 314-22.

AIM: To investigate if there are inequities in quality and safety outcomes for children with intellectual disability admitted to two tertiary paediatric hospitals. METHOD: A cross-sectional study of 1367 admissions for 1018 randomly selected patients admitted for more than 23 hours to one of two tertiary children’s hospitals in Sydney, Australia (1st January-31st December 2017). Electronic medical records were manually interrogated to identify children with intellectual disability (including developmental delay). Data extracted included patient demographics, length of stay, number of admissions, and reported clinical incidents. RESULTS: In total, 12.3% (n=125) of children admitted during the study period had intellectual disability, which represented 13.9% (n=190) of admissions. Sex and age at admission in children with and without intellectual disability were similar: 83 (43.7%) vs 507 (43.1%) females and 107 (56.3%) vs 670 (56.9%) males, p=0.875; median age 3 years (0-18y) vs 4 years (0-18y), p=0.122. Children with intellectual disability had significantly greater median length of stay (100.5h vs 79h, p<0.001) and cost of admission (A$11 596.38 vs A$8497.96) than their peers (p=0.001). Children with intellectual disability had more admissions with at least one incident compared to children without intellectual disability (14.7% vs 9.7%); this was not statistically significant (p=0.06). INTERPRETATION: Children with intellectual disability experience inequitable quality and safety outcomes in hospital. Engaging children and families in clinical incident reporting may enhance understanding of safety risks for children with intellectual disability in hospital.

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8. Mughal R, Wong SS, Dimitriou D, Halstead E. Nightmares in Children with Foetal Alcohol Spectrum Disorders, Autism Spectrum Disorders, and Their Typically Developing Peers. Clocks & sleep. 2021; 3(3): 465-81.

Children with Foetal Alcohol Spectrum Disorders (FASD) and Autism Spectrum Disorders (ASD) experience significantly higher rates of sleep disturbances than their typically developing (TD) peers. Pre-sleep anxiety and waking emotional content is known to affect the content and frequency of nightmares, which can be distressing to children and caregivers. This is the first study to analyse nightmare frequency and content in FASD, and to assess its association with psychometric outcomes. Using online caregiver questionnaires, we assessed reports from 277 caregivers of children with ASD (n = 61), FASD (n = 112), and TD children (n = 104) using the Children’s Sleep Habits Questionnaire (CSHQ), the Child Behaviour Checklist (CBCL), the Spence Children’s Anxiety Scale (SCAS), and the Behaviour Rating Inventory for Executive Functioning (BRIEF). Within the ASD group, 40.3% of caregivers reported their children had nightmares. Within the FASD group, 73.62% of caregivers reported their children had nightmares, and within the TD group, 21.36% of caregivers reported their children had nightmares. Correlation analysis revealed significant associations between anxiety and nightmares, maladaptive behaviour and nightmares, and executive functioning and nightmares in the TD and FASD groups, but not ASD group. This paper adds to the emerging body of work supporting the need for sleep interventions as part of clinical practice with regard to children with ASD and FASD. As a relatively niche but important area of study, this warrants much needed further research.

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9. Petcharat M, Liehr P. Feasibility of a brief mindfulness intervention: Examining stress, anxiety and mindfulness for Thai parents of children with developmental disabilities. Archives of psychiatric nursing. 2021; 35(5): 418-26.

AIM: To examine the feasibility of using a 2-weekend Brief Culturally Tailored Thai Mindfulness intervention (BCTTMi) to affect stress, anxiety, and mindfulness in Thai parents of children with developmental disabilities (DDs), based on eight feasibility study criteria. METHODS: A BCTTMi was implemented with 22 Thai parents and caregivers of children with DDs with an experimental waitlist control crossover design. All participants were Thai and Buddhist; more than half had practiced meditation. The outcomes (stress, anxiety, mindfulness) were assessed with three Thai translated questionnaires, which had reported acceptable reliabilities. To address the feasibility criteria, data were gathered using virtual engagement, diary recordings, and a pre-, post-test trial. RESULTS: Assessment of the eight qualities of feasibility indicated: 1) acceptability: the BCTTMi appealed to the participants; 2) demand: the participants practiced mindfulness at home; 3) implementation: the mindfulness practitioner was qualified; 4) practicality: anxiety was the only outcome measure sensitive to the BCTTMi (p = .005); 5) adaptation: there was no attrition with the shortened mindfulness intervention; 6) integration: the BCTTMi may be included as part of the participants’ routine club meeting; 7) expansion: a home visit and booster sessions may add strength; 8) limited efficacy: future work with 50 participants will allow adequate power when anxiety is the outcome. CONCLUSIONS: Further studies testing the BCTTMi are warranted in broader populations and across varied settings. However, it will be important to do preliminary work to identify outcomes measures, other than anxiety, that are sensitive to the BCTTMi.

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10. Sher DA, Gibson JL. Pioneering, prodigious and perspicacious: Grunya Efimovna Sukhareva’s life and contribution to conceptualising autism and schizophrenia. European child & adolescent psychiatry. 2021.

Grunya Efimovna Sukhareva’s seminal role in being the first to publish a clinical description of autistic traits in 1925, before both Kanner and Asperger, has been revealed relatively recently. Nevertheless, Sukhareva’s work is little known and largely unrecognised beyond Russia. Amidst calls for greater recognition of her pivotal contribution in the genesis of autism conceptualisation and categorisation, this article provides a biographical and historical background. Sukhareva’s wide-ranging psychiatric work is adumbrated and her pioneering efforts in conceptualising both schizophrenia and autism are elucidated. The article reflects on possible explanations for the belated and incomplete recognition of Sukhareva’s role. The current article indicates how Sukhareva’s work was ahead of its time in reflecting modern criteria for autism diagnoses and in its focus on female case studies. Sukhareva’s somewhat precarious position as a foremost psychiatrist condemned in the Stalinist years for being anti-Marxist is explicated. The article outlines further directions for academic research on Sukhareva’s work and contributions.

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