1. Ashrafun L, Uddin MJ, Debnath D. Caregiver Narratives of Children with Autism Spectrum Disorder: Exploring Symptom Recognition, Diagnosis, and Interventions. J Autism Dev Disord;2024 (Jun 22)

The diagnosis of autism spectrum disorder (ASD) poses myriad challenges for families, yet there is a scarcity of research focusing on their journey from recognizing initial anomalies to implementing interventions. This qualitative study examines how caregivers in Sylhet, Bangladesh, perceive and manage ASD in their children, including early symptom identification, diagnostic processes, and intervention strategies. Data for this study were collected through semi-structured interviews, case studies, and observations involving 22 caregivers of children with ASD. Participants were chosen using purposive-convenience sampling, and data collection continued until interpretive saturation was achieved. The study findings unveil nuanced caregiver perceptions of ASD causation, influenced by sociocultural factors, religious beliefs, and genetic predispositions. These determinants wield significant influence over treatment modalities and the child’s developmental trajectory. Importantly, the prevalence of supernatural beliefs and myths often surpasses biomedical explanations, highlighting gaps in awareness, educational outreach, and understanding of ASD. Nevertheless, religious beliefs and rituals concurrently serve as adaptive coping mechanisms, offering solace amidst uncertainty. Furthermore, a striking observation emerges: despite parents frequently identifying anomalies in their children within a 24-month, a substantial delay of 3 to 5 years persists between initial symptom recognition and formal diagnosis. This delay predominantly stems from caregiver hesitancy driven by societal stigmatization, familial dismissal attitudes, and limited diagnostic and specialized services. This study highlights the challenging diagnostic journey and caregiving for children with ASD in Bangladesh, stressing the need for systemic improvements in services, awareness, and research to enhance the well-being of individuals with ASD.

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2. Barón-Mendoza I, Martínez-Marcial M, García-Juárez M, Mejía-Hernández M, Cortés-Sánchez Y, Zamora-Sánchez CJ, García-Rebollar JO, Chavira-Ramírez R, Ordaz-Rosado D, Camacho-Arroyo I, Tecamachalzi-Silvarán MB, Montes-Narváez O, González-Flores O, García-Becerra R, González-Arenas A. Disruptions in reproductive health, sex hormonal profiles, and hypothalamic hormone receptors content in females of the C58/J mouse model of autism. Horm Behav;2024 (Jun 22);164:105593.

Autism Spectrum Disorder (ASD) is characterized by differences in social communication and interaction, as well as areas of focused interests and/or repetitive behaviors. Recent studies have highlighted a higher prevalence of endocrine and reproductive disturbances among females on the autism spectrum, hinting at potential disruptions within the hypothalamus-pituitary-ovary (HPO) axis. This research aims to explore the reproductive health disparities in ASD using an animal model of autism, the C58/J inbred mouse strain, with a focus on reproductive performance and hormonal profiles compared to the C57BL/6J control strain. Our findings revealed that the estrous cycle in C58/J females is disrupted, as evidenced by a lower frequency of complete cycles and a lack of cyclical release of estradiol and progesterone compared to control mice. C58/J females also exhibited poor performance in several reproductive parameters, including reproductive lifespan and fertility index. Furthermore, estrogen receptor alpha content showed a marked decrease in the hypothalamus of C58/J mice. These alterations in the estrous cycle, hormonal imbalances, and reduced reproductive function imply dysregulation in the HPO axis. Additionally, our in-silico study identified a group of genes involved in infertility carrying single-nucleotide polymorphisms (SNPs) in the C58/J strain, which also have human orthologs associated with autism. These findings could offer valuable insights into the molecular underpinnings of neuroendocrine axis disruption and reproductive issues observed in ASD.

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3. Desai K, Sumie M, Yang A, Englesakis M, Maynes JT, Aoyama K. Is there any impact of association between labor neuraxial analgesia and autism spectrum disorders in offspring at the population level?. J Anesth;2024 (Jun 21)

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4. Faultersack J, Johnstad CM, Zhang X, Greco M, Hokanson JS. Follow-Up of Secundum ASD, Muscular VSD, or PDA Diagnosed During Neonatal Hospitalization. Pediatr Cardiol;2024 (Jun 22)

The ideal follow-up of neonates who have a secundum atrial septal defect (ASD), muscular ventricular septal defect (VSD), or patent ductus arteriosus (PDA) remains uncertain. Newborns with findings limited to a secundum ASD, muscular VSD, and/or PDA on their neonatal hospitalization discharge echocardiogram and at least one outpatient follow-up echocardiogram performed between 9-1-17 and 9-1-21 were evaluated and patient follow-up assessed through 9-1-23. 95 infants met inclusion criteria. 43 infants had a secundum ASD, 41 had a muscular VSD, and 54 had a PDA at newborn hospital discharge. 39/95 had more than one intracardiac shunt. 56 were discharged from care, 26 were still in follow-up and 13 were lost to recommended follow-up. No patients received intervention during the follow-up period of 2 to 6 years. Of the 43 infants with a secundum ASD, 16 (37.2%) had demonstrated closure of the ASD, and 13 (30.2%) were discharged from care with an ASD < 3.5 mm in diameter. 3/43 infants with secundum ASD had a defect with a diameter of more than 5 mm at their last echocardiogram. No infant discharged from their neonatal hospitalization with a secundum ASD, muscular VSD, or PDA needed any intervention from 2 to 6 years of follow-up. Ongoing follow-up with echocardiography of those infants with a secundum ASD is of greater value than of those with muscular VSD or PDA.

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5. Habayeb S, Inge A, Eisenman E, Godovich S, Lauer M, Hastings A, Fuentes V, Long M, Marshall X, Khuu A, Godoy L. Short report: Integrated evaluations for autism spectrum disorder in pediatric primary care clinics. Autism;2024 (Jun 22):13623613241260800.

Primary care providers often screen for autism during well child visits in the first few years of life and refer children for diagnostic evaluations when needed. However, most children do not receive a diagnosis until years later which delays access to services. Racism, socioeconomic status, and other systemic inequalities that limit access to health care further delay diagnostic evaluations. Mental health clinicians who work in primary care clinics can help address barriers to accessing diagnostic evaluation services once they are recommended by their primary care provider. However, mental health clinicians who work in primary care typically do not have training in diagnosing autism. The goal of this study was to evaluate a program training mental health professionals working in an urban primary care setting, primarily serving Black and Latinx families insured by Medicaid, to provide autism diagnostic evaluations. Two hundred and fifty children completed evaluations through the Autism in Primary Care (APC) program. The wait time to access an evaluation through APC was significantly shorter than through standard avenues of care (e.g. referring to a separate autism clinic). Referring primary care providers and caregivers endorsed high levels of satisfaction with the program. Conducting autism evaluations in primary care settings offers a promising opportunity to improve earlier diagnosis and treatment access for families, reduce inequities in care, and increase caregiver and child well-being.

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6. Macpherson MC, Brown AJ, Kallen RW, Richardson MJ, Miles LK. Partner gaze shapes the relationship between symptoms of psychopathology and interpersonal coordination. Sci Rep;2024 (Jun 21);14(1):14288.

Interpersonal coordination is a key determinant of successful social interaction but can be disrupted when people experience symptoms related to social anxiety or autism. Effective coordination rests on individuals directing their attention towards interaction partners. Yet little is known about the impact of the attentional behaviours of the partner themselves. As the gaze of others has heightened salience for those experiencing social anxiety or autism, addressing this gap can provide insight into how symptoms of these disorders impact coordination. Using a novel virtual reality task, we investigated whether partner gaze (i.e., direct vs. averted) influenced the emergence of interpersonal coordination. Results revealed: (i) spontaneous coordination was diminished in the averted (cf. direct) gaze condition; (ii) spontaneous coordination was positively related to symptoms of social anxiety, but only when partner gaze was averted. This latter finding contrasts the extant literature and points to the importance of social context in shaping the relationship between symptoms of psychopathology and interpersonal coordination.

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7. Massuard M, Lane J, Manceau LM, Castonguay P, Proulx R. Analyse d’une infrastructure québécoise de transfert de connaissances en autisme : le RNETSA . Sante Publique;2024;36(3):21-31.

INTRODUCTION: Many Knowledge Translation (KT) networks have been set up to support the improvement of research-based practices. However despite the deployment of KT networks, there is little empirical data on how they work. The Réseau national d’expertise en trouble du spectre de l’autisme (RNETSA) is the result of a ministerial initiative. OBJECTIVE AND METHOD: Its mission is to promote the evolution of autism practices and services in the education, early childhood, and health and social services sectors. The purpose of this article is to analyze the governance structure and KT strategy of the RNETSA in terms of its legitimacy. The study was based on a case study design combining a literature review and interviews. RESULTS: The results highlight the key components of 1) the governance structure (e.g., identification of a common need, formalization of bodies, allocation of resources) and 2) the KT strategy (e.g., knowledge dissemination, collaborations, increasing participation in activities). The discussion addresses a number of building blocks that could help strengthen the network’s legitimacy with a view to bringing it closer to its purpose. CONCLUSIONS: RNETSA has demonstrated a strong capacity to ensure its legitimacy in the autism KT ecosystem. The potential to influence public policy in the field of autism is also a key feature of RNETSA. To improve knowledge of RNETSA’s legitimacy, an evaluation of the effects of its KT activities would be necessary.

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8. Petty S, Ellis A. The meaning of autistic movements. Autism;2024 (Jun 22):13623613241262151.

What is already known?Moving the body in ‘stereotyped’, ‘repetitive’, ‘ritualised’ or ‘unusual’ ways is part of the criteria for receiving a diagnosis of autism. However, the reasons for these movements and their personal value are not well understood. Certain ways of moving have become part of a disorder, and have received negative judgements, whereas other movements have not.What this paper adds?We searched online blogs for descriptions of movement written by autistic adults, using their preferred language and definitions. The blog authors said that many types of movement attracted negative judgement, including mis-coordination shown during sports, dancing in unusual places or moving repetitively, such as when stimming. However, movement provided personal benefits, and could enhance thinking and focus, provide meaningful routine, contribute to sensory regulation, release energy, increase body awareness, emotion regulation and strengthen self-identity.Implications for practice and policyMovement could be a well-being resource, used to reduce distraction, overwhelm, confusion and distress for autistic people. This should be considered within personal coping strategies and psychological therapies. The examples provided in this study could inform autism assessments, to ensure that the meanings of movements are considered alongside the appearances of movement. Some movements such as stimming have the same functions as many other ways of moving, including dancing and exercising, which could help to reduce stigma around being autistic if reflected in policy and practice. Improving understanding is important for informing how autism is assessed, and how personal experiences of being autistic are heard.

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9. Rodrigues B, Sousa V, Yrigollen CM, Tassone F, Villate O, Allen EG, Glicksman A, Tortora N, Nolin SL, Nogueira AJA, Jorge P. FMR1 allelic complexity in premutation carriers provides no evidence for a correlation with age at amenorrhea. Reprod Biol Endocrinol;2024 (Jun 21);22(1):71.

BACKGROUND: Premutations in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene, defined as between 55 and 200 CGGs, have been implicated in fragile X-associated primary ovarian insufficiency (FXPOI). Only 20% of female premutation carriers develop early ovulatory dysfunction, the reason for this incomplete penetrance is unknown. This study validated the mathematical model in premutation alleles, after assigning each allele a score representing allelic complexity. Subsequently, allelic scores were used to investigate the impact of allele complexity on age at amenorrhea for 58 premutation cases (116 alleles) previously published. METHODS: The allelic score was determined using a formula previously described by our group. The impact of each allelic score on age at amenorrhea was analyzed using Pearson’s test and a contour plot generated to visualize the effect. RESULTS: Correlation of allelic score revealed two distinct complexity behaviors in premutation alleles. No significant correlation was observed between the allelic score of premutation alleles and age at amenorrhea. The same lack of significant correlation was observed regarding normal-sized alleles, despite a nearly significant trend. CONCLUSIONS: Our results suggest that the use of allelic scores combination have the potential to explain female infertility, namely the development of FXPOI, or ovarian dysfunction, despite the lack of correlation with age at amenorrhea. Such a finding is of great clinical significance for early identification of females at risk of ovulatory dysfunction, enhancement of fertility preservation techniques, and increasing the probability for a successful pregnancy in females with premutations. Additional investigation is necessary to validate this hypothesis.

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10. Shameem S, Luft M, Harrington M, Nahhas RW, Hatesohl M, Gentile J, Gainer D. Relationship Between Obesity and Intellectual/Developmental Disability in an Ohio Telepsychiatry Clinic: A Retrospective Review. J Autism Dev Disord;2024 (Jun 22)

Co-occurring intellectual/developmental disability (IDD) and overweight/obesity (OW/OB) is an important consideration of IDD psychiatric care. The relationship between OW/OB and comorbid diagnoses of Autism Spectrum Disorder (ASD) and/or IDD remains inadequately described in existing literature. The purpose of this study is to explore these co-occurring diagnoses. Improved understanding of associated comorbidities can guide clinicians toward interventions to minimize complications associated with OW/OB. We conducted a retrospective review of adult patients of a telepsychiatry clinic with IDD or ASD defined by DSM-5. ICD-10 diagnosis of IDD or ASD, demographics, BMI, comorbidities, and current medications were recorded. Binary logistic regression was used to estimate associations between each predictor and the outcomes overweight (body mass index (BMI) ≥ 25 kg/m(2)) and obesity (BMI ≥ 30 kg/m(2)). Prevalence of obesity in these 412 adults was 52.4% (95% CI 47.5, 57.3). There was a significant inverse relationship between IDD severity and the odds of each outcome (p < .001). 80.3% of patients were being actively treated with an antidepressant. Patients taking an antidepressant had twice the odds of obesity (adjusted OR 2.03, 95% CI 1.23, 3.41, p = .006). These findings provide a sense of urgency for prevention of OW/OB and its associated medical sequelae. Prevalence of obesity was higher in this sample compared to the general population. The inverse relationship between IDD severity and OW/OB warrants further research examining age, caregiver involvement, and access to care as potential modifiers.

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11. Sirrianni J, Hanks C, Rust S, Hart LC. Correction: Continuation of Pediatric Care after Transfer to Adult Care Among Autistic Youth Overlap of Pediatric and Adult Care. J Autism Dev Disord;2024 (Jun 22)

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12. Sun M, Xue W, Meng H, Sun X, Lu T, Yue W, Wang L, Zhang D, Li J. Dentate Gyrus Morphogenesis is Regulated by an Autism Risk Gene Trio Function in Granule Cells. Neurosci Bull;2024 (Jun 22)

Autism Spectrum Disorders (ASDs) are reported as a group of neurodevelopmental disorders. The structural changes of brain regions including the hippocampus were widely reported in autistic patients and mouse models with dysfunction of ASD risk genes, but the underlying mechanisms are not fully understood. Here, we report that deletion of Trio, a high-susceptibility gene of ASDs, causes a postnatal dentate gyrus (DG) hypoplasia with a zigzagged suprapyramidal blade, and the Trio-deficient mice display autism-like behaviors. The impaired morphogenesis of DG is mainly caused by disturbing the postnatal distribution of postmitotic granule cells (GCs), which further results in a migration deficit of neural progenitors. Furthermore, we reveal that Trio plays different roles in various excitatory neural cells by spatial transcriptomic sequencing, especially the role of regulating the migration of postmitotic GCs. In summary, our findings provide evidence of cellular mechanisms that Trio is involved in postnatal DG morphogenesis.

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13. Weeda JE, van Kuijk SMJ, van den Berg MP, Bastiaenen CHG, Borst HE, van Rhijn LW, de Bie RA. Identification of Predictors for Progression of Scoliosis in Rett Syndrome. Dev Neurorehabil;2024 (Jun 22):1-8.

Rett syndrome is a neurodevelopmental disorder in which scoliosis is a common orthopedic complication. This explorative study aims to identify predictors for rapid progression of scoliosis in Rett syndrome to enable variable selection for future prediction model development. A univariable logistic regression model was used to identify variables that discriminate between individuals with and without rapid progression of scoliosis (>10 ∘Cobb angle/6 months) based on multi-center data. Predictors were identified using univariable logistic regression with OR (95% CI) and AUC (95% CI). Age at inclusion, Cobb angle at baseline and epilepsy have the highest discriminative ability for rapid progression of scoliosis in Rett syndrome.

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