1. Budisteanu M, Linca F, Andrei LE, Mateescu L, Glangher A, Ioana D, Severin E, Riga S, Rad F. Recognition of early warning signs and symptoms – the first steps on the road to Autism Spectrum Disorder diagnosis. Ann Ist Super Sanita;2022 (Jul-Sep);58(3):183-191.

OBJECTIVE: To identify developmental symptoms reported at firsts doctor visits by parents of children later diagnosed with Autism Spectrum Disorder (ASD). DESIGN: Cohort study. SETTING: The study was conducted in the Department of Psychiatry Research of « Prof. Dr. Alexandru Obregia » Clinical Psychiatry Hospital from Bucharest between September 2019 and May 2021. PATIENTS: 105 cases: 82 boys and 23 girls, 100 children with autism, and 5 patients with Asperger’s syndrome. INTERVENTION: ASD was diagnosed according to the DSM-5 criteria, ADOS-1 (Autism Diagnostic Observation Schedule, 1st Edition) and/or ADI-R (Autism Diagnostic Interview-Revised) tests scores; features reported by the parents for which they presented to the doctor for a diagnosis were taken into consideration. MAIN OUTCOME MEASURES: The age at first presentation to the doctor; the most common early signs reported by the parents of children with ASD. RESULTS: The age at first presentation to the doctor in our group was between 9 months and 14 years. The most common early signs reported by parents were: delayed language development, deficits in understanding verbal instructions/indications, and hyperactivity and aggressivity. In the case of patients with Asperger’s syndrome, the reported features were hyperactivity and aggressivity, learning difficulties, and social interaction problems. Regression and delay in language development occurred more often in boys than in girls. CONCLUSIONS: Parents, as well as family doctors or paediatricians, should pay great attention to the children’s behaviour, alongside their cognitive and language development. Early detection is essential for early intervention and our results can be used to develop training programs for parents and paediatricians for early recognition of ASD.

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2. Danis E, Nader AM, Degré-Pelletier J, Soulières I. Semantic and Visuospatial Fluid Reasoning in School-Aged Autistic Children. J Autism Dev Disord;2022 (Sep 22)

In light of the known visuoperceptual strengths and altered language skills in autism, we investigated the impact of problem content (semantic/visuospatial) combined with complexity and presence of lures on fluid reasoning in 43 autistic and 41 typical children (6-13 years old). Increased complexity and presence of lures diminished performance, but less so as the children’s age increased. Typical children were slightly more accurate overall, whereas autistic children were faster at solving complex visuospatial problems. Thus, reasoning could rely more extensively on visuospatial strategies in autistic versus typical children. A combined speed-accuracy measure revealed similar performance in both groups, suggesting a similar pace in fluid reasoning development. Visual presentation of conceptual information seems to suit the reasoning processes of autistic children.

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3. Gaines AG. The Grief Experiences of Children with Developmental Disabilities: A Narrative Literature Review. Omega (Westport);2022 (Sep 22):302228221124520.

BACKGROUND: Children with developmental disabilities have wide-ranging social, developmental, and communication challenges impacting their grieving process. This narrative review examined the literature relating to the grief experiences of children with developmental disabilities to identify implications for practice and areas for future research. METHODS: The literature review was conducted using five databases, and a hand search of dissertations with original research, due to the sparse body of published works. RESULTS: Nine works were included in the review, which were thematically synthesized into three categories: (1) Understanding of death concepts, (2) Social-emotional responses to loss, and (3) Disenfranchised grief. CONCLUSIONS: Children with developmental disabilities are affected by loss, even if their comprehension of death concepts is impacted by their level of disability. They may experience challenges due to changes in routines and concrete thinking, and are at risk of disenfranchised grief. Future research is needed to inform developmentally appropriate grief interventions.

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4. Kalb LG, DiBella F, Jang YS, Fueyo M, Mahajan R, Vasa RA. Mental Health Crisis Screening in Youth with Autism Spectrum Disorder. J Clin Child Adolesc Psychol;2022 (Sep 21):1-9.

OBJECTIVE: While a growing body of evidence suggests youth with autism are at increased risk of experiencing a mental health crisis, no study has screened for crises in an outpatient setting. The current study fills this gap by examining a) the feasibility and utility of conducting routine crisis screenings; b) the psychometrics of a brief crisis screener (the Mental Health Crisis Assessment Scale-Revised; MCAS-R); and, c) the prevalence of and types of behaviors associated with crises. METHOD: This study was conducted at two different outpatient mental health clinics. Screenings were conducted using the MCAS-R, a 23-item parent report measure. A total of 406 youth with autism (76% Male; 72% White; M = 11.2y; SD = 3.5y), evenly divided across clinics, were screened. Seven clinicians conducted a clinical visit, which incorporated the results of the MCAS-R, to determine whether the child was in crisis. RESULTS: Eighty percent of youth were successfully screened, suggesting crisis screening is feasible. Most parents (73%) felt the MCAS-R helped communicate concerns with the clinician; few (<6%) felt the survey was too long or upsetting. All clinicians (100%) indicated that the MCAS-R was very helpful in facilitating communication and identifying/mitigating safety concerns; although, 33% reported screenings "sometimes" interrupted clinical flow. The MCAS-R strongly aligned with clinician ratings (88% correctly classified). Twenty percent of youth met the cutoff for crisis; aggression and self-injurious behaviors were the most common reasons for crises. CONCLUSION: This study suggests that outpatient crisis screening via the MCAS-R is feasible, accurate, and well received by parents and clinicians. ABBREVIATIONS: ASD: Autism Spectrum Disorder; MCAS-R: Mental Health Assessment Crisis Scale-Revised; DSM-5: Diagnostic and Statistical Manual, 5(th) Edition; ADOS-2: Autism Diagnostic Observation Schedule, Second Edition; ROC: Receiver Operating Curve.

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5. Kim S, Oh H, Choi SH, Yoo YE, Noh YW, Cho Y, Im GH, Lee C, Oh Y, Yang E, Kim G, Chung WS, Kim H, Kang H, Bae Y, Kim SG, Kim E. Postnatal age-differential ASD-like transcriptomic, synaptic, and behavioral deficits in Myt1l-mutant mice. Cell Rep;2022 (Sep 20);40(12):111398.

Myelin transcription factor 1 like (Myt1l), a zinc-finger transcription factor, promotes neuronal differentiation and is implicated in autism spectrum disorder (ASD) and intellectual disability. However, it remains unclear whether Myt1l promotes neuronal differentiation in vivo and its deficiency in mice leads to disease-related phenotypes. Here, we report that Myt1l-heterozygous mutant (Myt1l-HT) mice display postnatal age-differential ASD-related phenotypes: newborn Myt1l-HT mice, with strong Myt1l expression, show ASD-like transcriptomic changes involving decreased synaptic gene expression and prefrontal excitatory synaptic transmission and altered righting reflex. Juvenile Myt1l-HT mice, with markedly decreased Myt1l expression, display reverse ASD-like transcriptomes, increased prefrontal excitatory transmission, and largely normal behaviors. Adult Myt1l-HT mice show ASD-like transcriptomes involving astrocytic and microglial gene upregulation, increased prefrontal inhibitory transmission, and behavioral deficits. Therefore, Myt1l haploinsufficiency leads to ASD-related phenotypes in newborn mice, which are temporarily normalized in juveniles but re-appear in adults, pointing to continuing phenotypic changes long after a marked decrease of Myt1l expression in juveniles.

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6. Kyle G, Connolly A. Developing an e-learning curriculum to educate healthcare staff in the acute hospital setting about autism. Br J Nurs;2022 (Sep 22);31(17):894-900.

When attending acute hospital settings, autistic children and adults rely on health professionals and ancillary staff to interact with them appropriately to facilitate accurate diagnoses and management of health concerns. Health outcomes for autistic people are adversely affected by comorbidities as well as difficulties in accessing and navigating acute healthcare environments. These factors demonstrate a need to develop targeted education for healthcare staff working in the acute hospital setting. This article discusses the background to the project, including the results of a literature review that highlighted some of the difficulties this patient group experiences in accessing health care. It discusses the development and evaluation of an e-learning education programme for healthcare staff working in an acute hospital setting using Kern et al’s (1998) six-step approach to curriculum development. Staff reported a desire to learn more about autism and how to make patient consultations and experiences more accessible and productive. It was acknowledged that there are many undiagnosed autistic adults navigating the acute health system and it is anticipated that the e-learning programme will assist staff in identifying and meeting their needs. During research with an autism advocacy group, there was a clear recommendation for the use of the term ‘autistic person’ rather than ‘person with autism’, which is reflected in the resulting education programme and this article.

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7. Licari MK, Alvares GA, Reynolds JE, Uljaveric M. Motor impairment should be a « Specifier » for autism spectrum disorder. Autism Res;2022 (Sep 21)

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8. McArthur GE, Lee E, Laycock R. Autism Traits and Cognitive Performance: Mediating Roles of Sleep Disturbance, Anxiety and Depression. J Autism Dev Disord;2022 (Sep 22)

Theories about autism spectrum disorder (ASD) have addressed cognitive deficits however few have examined how comorbid diagnoses, including sleep disturbance, anxiety and depression contribute to the underlying deficits. We investigated potential mediations of common ASD comorbidities in the relationship between sub-clinical autism traits and cognitive performance using an international community sample. Cognitive tasks assessed working memory [executive functioning (EF) theory], mental state attribution [theory of mind (ToM)], and global/local visual processing [weak central coherence (WCC) theory]. Structural equation modelling (SEM) demonstrated sleep disturbance and anxiety mediated the relationship of autism traits on measures of EF, but not WCC and ToM. This suggests that treating the symptoms of sleep disturbance and anxiety may lead to improvements in working memory.

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9. Norris LA, Rabner JC, Storch EA, Wood JJ, Kerns C, Lewin AB, Small BJ, Kendall PC. Idiographic Coping Outcomes in Youth with Autism Spectrum Disorder and Co-Occurring Anxiety: Results from the TAASD Study. J Autism Dev Disord;2022 (Sep 21)

Versions of cognitive behavioral therapy (Coping Cat, CC; Behavioral Interventions for Anxiety in Children with Autism, BIACA) have shown efficacy in treating anxiety among youth with autism spectrum disorder. Measures of efficacy have been primarily nomothetic symptom severity assessments. The current study examined idiographic coping outcomes in the Treatment of Anxiety in Autism Spectrum Disorder study (N = 167). Longitudinal changes in coping with situations individualized to youth fears (Coping Questionnaire) were examined across CC, BIACA and treatment as usual (TAU) in a series of multilevel models. CC and BIACA produced significantly greater improvements than TAU in caregiver-reported coping. Youth report did not reflect significant differences. Results show the efficacy of CC and BIACA in improving idiographic caregiver-, but not youth-, reported youth coping.

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10. Punt AM, Judson MC, Sidorov MS, Williams BN, Johnson NS, Belder S, den Hertog D, Davis CR, Feygin MS, Lang PF, Jolfaei MA, Curran PJ, van IWF, Elgersma Y, Philpot BD. Molecular and behavioral consequences of Ube3a gene overdosage in mice. JCI Insight;2022 (Sep 22);7(18)

Chromosome 15q11.2-q13.1 duplication syndrome (Dup15q syndrome) is a severe neurodevelopmental disorder characterized by intellectual disability, impaired motor coordination, and autism spectrum disorder. Chromosomal multiplication of the UBE3A gene is presumed to be the primary driver of Dup15q pathophysiology, given that UBE3A exhibits maternal monoallelic expression in neurons and that maternal duplications typically yield far more severe neurodevelopmental outcomes than paternal duplications. However, studies into the pathogenic effects of UBE3A overexpression in mice have yielded conflicting results. Here, we investigated the neurodevelopmental impact of Ube3a gene overdosage using bacterial artificial chromosome-based transgenic mouse models (Ube3aOE) that recapitulate the increases in Ube3a copy number most often observed in Dup15q. In contrast to previously published Ube3a overexpression models, Ube3aOE mice were indistinguishable from wild-type controls on a number of molecular and behavioral measures, despite suffering increased mortality when challenged with seizures, a phenotype reminiscent of sudden unexpected death in epilepsy. Collectively, our data support a model wherein pathogenic synergy between UBE3A and other overexpressed 15q11.2-q13.1 genes is required for full penetrance of Dup15q syndrome phenotypes.

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11. Streatch E, Bruno N, Latimer-Cheung AE. Investigating Strategies Used to Foster Quality Participation in Recreational Sport Programs for Children With Autism Spectrum Disorder and Their Perceived Importance. Adapt Phys Activ Q;2022 (Sep 22):1-19.

Quality experiences in sport programming for children with autism spectrum disorder (ASD) can promote physical and psychosocial benefits and long-term quality participation (QP). Unfortunately, children with ASD often experience sport participation barriers and, consequently, participate less in sport compared with children without disabilities. This study investigated QP priorities and strategies that could foster QP for children with ASD. Caregivers (n = 13), volunteers (n = 26), and staff (n = 14) involved in sport programming for children with ASD rated experiential elements of QP using the Measure of Experiential Aspects of Participation. In addition , a two-round Delphi survey with staff (Round 1: n = 11; Round 2: n = 13) generated 22 strategies for promoting QP-each rated highly with regard to importance (5.69-6.85 on a 7-point scale). Strategies were substantiated with published research evidence. Findings informed the development of a QP tool designed to help instructors implement identified strategies in hopes of improving sport experiences for children with ASD.

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12. Velkey AJ, Koon CH, Danstrom IA, Wiens KM. Female zebrafish (Danio rerio) demonstrate stronger preference for established shoals over newly-formed shoals in the three-tank open-swim preference test. PLoS One;2022;17(9):e0265703.

Zebrafish (Danio rerio) share a considerable amount of biological similarity with mammals, including identical or homologous gene expression pathways, neurotransmitters, hormones, and cellular receptors. Zebrafish also display complex social behaviors like shoaling and schooling, making them an attractive model for investigating normal social behavior as well as exploring impaired social function conditions such as autism spectrum disorders. Newly-formed and established shoals exhibit distinct behavior patterns and inter-member interactions that can convey the group’s social stability. We used a three-chamber open-swim preference test to determine whether individual zebrafish show a preference for an established shoal over a newly-formed shoal. Results indicated that both sexes maintained greater proximity to arena zones nearest to the established shoal stimulus. In addition, we report the novel application of Shannon entropy to discover sex differences in systematicity of responses not revealed by unit-based measurements; male subjects spent more time investigating between the two shoals than female subjects. This novel technique using established versus newly-formed shoals can be used in future studies testing transgenics and pharmacological treatments that mimic autism spectrum disorder and other disorders that affect social interaction.

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13. Wang X, Carroll X, Zhang P, du Prel JB, Wang H, Xu H, Leeper-Woodford S. Exploring brainstem auditory evoked potentials and mental development index as early indicators of autism spectrum disorders in high-risk infants. Autism Res;2022 (Sep 22)

This study of infants from Hubei Province, China examined brainstem auditory evoked potentials (BAEP) and mental development index (MDI) as possible early indicators associated with autism spectrum disorders (ASD). The 34 ASD cases and 102 controls who had recovered from perinatal conditions were matched for age, sex, gestational age, birth weight and maternal age. BAEP absolute latencies (AL) I, III, V and interpeak latencies (IPL) I-III, III-V, I-V were compared in ASD cases and controls at ages 1, 3 and 6 months. MDI scores were compared in these infants from 1 month to 2 years old. Multiple logistic regression analysis was performed to test associations among ASD, BAEP and MDI. Results showed BAEP AL I, V and IPL III-V prolonged in the ASD group (p < 0.001), and MDI scores in ASD cases sharply declining from 12 to 24 months (p < 0.001). Regression analysis revealed odds ratios (OR) indicating that ASD was likely associated with abnormal values of BAEP AL I at 1 and 3 months (OR(AL I) : 4.27; OR(AL I) : 4.13), and AL V at 6 months (OR(AL V) : 7.85). Lower MDI scores (MDI < 80) in infants at 1, 3, and 6 months were likely associated with ASD (OR(MDI) : 2.58; OR(MDI) : 3.83; OR(MDI) : 4.87). These data show that abnormal BAEP values and low MDI scores are independent factors associated with ASD, and that monitoring of BAEP and MDI during infancy might facilitate screening for ASD development. LAY SUMMARY: The relationship between ASD and BAEP as well as MDI has been investigated in a sample of children from birth to 2 years of age in Hubei Province, China. Abnormal BAEP values from 1 to 6 months of age and lower MDI scores observed in these infants were associated with later diagnosis of ASD. Using this simple, non-invasive BAEP and MDI testing strategy might be a valuable tool for clinicians to identify early development of ASD.

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14. Zhou HY, Lai IYS, Hung KSY, Chan MKM, Ho ZTY, Lam JPH, Lui SSY, Chan RCK. Audiovisual temporal processing in adult patients with first-episode schizophrenia and high-functioning autism. Schizophrenia (Heidelb);2022 (Sep 22);8(1):75.

Schizophrenia and autism spectrum disorder (ASD) are both neurodevelopmental disorders with altered sensory processing. Widened temporal binding window (TBW) signifies reduced sensitivity to detect stimulus asynchrony, and may be a shared feature in schizophrenia and ASD. Few studies directly compared audiovisual temporal processing ability in the two disorders. We recruited 43 adult patients with first-episode schizophrenia (FES), 35 average intelligent and verbally-fluent adult patients with high-functioning ASD and 48 controls. We employed two unisensory Temporal Order Judgement (TOJ) tasks within visual or auditory modalities, and two audiovisual Simultaneity Judgement (SJ) tasks with flash-beeps and videos of syllable utterance as stimuli. Participants with FES exhibited widened TBW affecting both speech and non-speech processing, which were not attributable to altered unisensory sensory acuity because they had normal visual and auditory TOJ thresholds. However, adults with ASD exhibited intact unisensory and audiovisual temporal processing. Lower non-verbal IQ was correlated with larger TBW width across the three groups. Taking our findings with earlier evidence in chronic samples, widened TBW is associated with schizophrenia regardless illness stage. The altered audiovisual temporal processing in ASD may ameliorate after reaching adulthood.

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15. Zoodsma JD, Keegan EJ, Moody GR, Bhandiwad AA, Napoli AJ, Burgess HA, Wollmuth LP, Sirotkin HI. Disruption of grin2B, an ASD-associated gene, produces social deficits in zebrafish. Mol Autism;2022 (Sep 22);13(1):38.

BACKGROUND: Autism spectrum disorder (ASD), like many neurodevelopmental disorders, has complex and varied etiologies. Advances in genome sequencing have identified multiple candidate genes associated with ASD, including dozens of missense and nonsense mutations in the NMDAR subunit GluN2B, encoded by GRIN2B. NMDARs are glutamate-gated ion channels with key synaptic functions in excitatory neurotransmission. How alterations in these proteins impact neurodevelopment is poorly understood, in part because knockouts of GluN2B in rodents are lethal. METHODS: Here, we use CRISPR-Cas9 to generate zebrafish lacking GluN2B (grin2B(-/-)). Using these fish, we run an array of behavioral tests and perform whole-brain larval imaging to assay developmental roles and functions of GluN2B. RESULTS: We demonstrate that zebrafish GluN2B displays similar structural and functional properties to human GluN2B. Zebrafish lacking GluN2B (grin2B(-/-)) surprisingly survive into adulthood. Given the prevalence of social deficits in ASD, we assayed social preference in the grin2B(-/-) fish. Wild-type fish develop a strong social preference by 3 weeks post fertilization. In contrast, grin2B(-/-) fish at this age exhibit significantly reduced social preference. Notably, the lack of GluN2B does not result in a broad disruption of neurodevelopment, as grin2B(-/-) larvae do not show alterations in spontaneous or photic-evoked movements, are capable of prey capture, and exhibit learning. Whole-brain imaging of grin2B(-/-) larvae revealed reduction of an inhibitory neuron marker in the subpallium, a region linked to ASD in humans, but showed that overall brain size and E/I balance in grin2B(-/-) is comparable to wild type. LIMITATIONS: Zebrafish lacking GluN2B, while useful in studying developmental roles of GluN2B, are unlikely to model nuanced functional alterations of human missense mutations that are not complete loss of function. Additionally, detailed mammalian homologies for larval zebrafish brain subdivisions at the age of whole-brain imaging are not fully resolved. CONCLUSIONS: We demonstrate that zebrafish completely lacking the GluN2B subunit of the NMDAR, unlike rodent models, are viable into adulthood. Notably, they exhibit a highly specific deficit in social behavior. As such, this zebrafish model affords a unique opportunity to study the roles of GluN2B in ASD etiologies and establish a disease-relevant in vivo model for future studies.

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