1. Benatov J, Manor-Binyamini I, Abu-Kaf S. Coping strategies and depression among Bedouin mothers raising an adolescent with a developmental disability. Archives of women’s mental health. 2022; 25(1): 147-56.

Many studies have examined the coping strategies and depression of mothers of children with disabilities, but most have involved Western families and only a few refer to unique and traditional cultures. The main goal of the current study was to assess depression among Bedouin Israeli mothers raising children with developmental disability (DD) and how it is linked to their coping strategies. The study included a sample of 95 Bedouin mothers of adolescents with and without DD in Israel. Self-report measures of CES-D and Brief Cope were used to measure depression and coping strategies. Findings revealed an alarmingly high prevalence of severe depression among Bedouin mothers, especially among those raising a child with DD. Mothers raising a child with a developmental disability tended to use avoidant coping more often, while the use of active coping strategies did not differ between the two groups. Adaptivity of planning and behavioral disengagement was found to be context dependent. Findings underscore the vulnerability of Bedouin mothers living in Israel, and particularly Bedouin mothers raising a child with a DD which are a double jeopardy group.

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2. Bonnycastle K, Kind PC, Cousin MA. FMRP Sustains Presynaptic Function via Control of Activity-Dependent Bulk Endocytosis. The Journal of neuroscience : the official journal of the Society for Neuroscience. 2022; 42(8): 1618-28.

Synaptic vesicle (SV) recycling is essential for the maintenance of neurotransmission, with a number of neurodevelopmental disorders linked to defects in this process. Fragile X syndrome (FXS) results from a loss of fragile X mental retardation protein (FMRP) encoded by the FMR1 gene. Hyperexcitability of neuronal circuits is a key feature of FXS, therefore we investigated whether SV recycling was affected by the absence of FMRP during increased neuronal activity. We revealed that primary neuronal cultures from male Fmr1 knock-out (KO) rats display a specific defect in activity-dependent bulk endocytosis (ADBE). ADBE is dominant during intense neuronal activity, and this defect resulted in an inability of Fmr1 KO neurons to sustain SV recycling during trains of high-frequency stimulation. Using a molecular replacement strategy, we also revealed that a human FMRP mutant that cannot bind BK channels failed to correct ADBE dysfunction in KO neurons, however this dysfunction was corrected by BK channel agonists. Therefore, FMRP performs a key role in sustaining neurotransmitter release via selective control of ADBE, suggesting intervention via this endocytosis mode may correct the hyperexcitability observed in FXS.SIGNIFICANCE STATEMENT Loss of fragile X mental retardation protein (FMRP) results in fragile X syndrome (FXS), however whether its loss has a direct role in neurotransmitter release remains a matter of debate. We demonstrate that neurons lacking FMRP display a specific defect in a mechanism that sustains neurotransmitter release during intense neuronal firing, called activity-dependent bulk endocytosis (ADBE). This discovery provides key insights into mechanisms of brain communication that occur because of loss of FMRP function. Importantly it also reveals ADBE as a potential therapeutic target to correct the circuit hyperexcitability observed in FXS.

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3. Carducci F, Ardiccioni C, Fiorini R, Vignini A, Di Paolo A, Alia S, Barucca M, Biscotti MA. The ALA5/ALA6/ALA7 repeat polymorphisms of the glutathione peroxidase-1 (GPx1) gene and autism spectrum disorder. Autism research : official journal of the International Society for Autism Research. 2022; 15(2): 215-21.

Autism is a severe neurodevelopmental disorder leading to deficits in social interaction, communication, and several activities. An increasing number of evidence suggests a role of oxidative stress in the etiology of autism spectrum disorder (ASD). Indeed, impaired antioxidant mechanisms may lead to the inadequate removal of H(2) O(2) with a consequent increase in highly active hydroxyl radicals and other reactive oxygen species causing cellular damages. The GPx1 is one of the most important enzymes counteracting oxidative stress. In this work, we investigated a possible correlation between the GCG repeat polymorphism present in the first exon of GPx1 gene encoding a tract of five to seven alanine residues (ALA5, ALA6, and ALA7) and ASD. Our findings highlighted a high frequency of ALA5 allele in ASD subjects. Moreover, proteins corresponding to the three GPx1 variants were produced in vitro, and the evaluation of their activity showed a lower values for GPx1 having ALA5 polymorphism. The comparison of the secondary and tertiary structure predictions revealed an alpha-helix in correspondence of alanine stretch only in the case of GPx1-ALA7 variant. Finally, to better investigate protein structure, steady-state fluorescence measurements of GPx1 intrinsic tryptophan were carried out and the three tested proteins exhibited a different stability under denaturing conditions. This work demonstrates the importance in adopting a multidisciplinary strategy to comprehend the role of GPx1 in ASD. LAY SUMMARY: Results here obtained suggest a possible role of ALA5 GPx1 variant in ASD. However, given the multifactorial nature of autism, this evidence might be a piece of a more complex puzzle being the GPx1 enzyme part of a complex pathway in which several proteins are involved.

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4. Duhon GF, Simon AR, Limon DL, Ahmed KL, Marzano G, Goin-Kochel RP. Use of a Best Practice Alert (BPA) to Increase Diversity Within a US-Based Autism Research Cohort. Journal of autism and developmental disorders. 2022: 1-8.

We evaluated the success of a best practice alert (BPA) in recruiting underrepresented families into an autism spectrum disorder research cohort by comparing BPA-response outcomes (Interested, Declined, Enrolled, Dismissed) in pediatric primary care practices (TCPs) serving diverse communities with those of subspecialty clinics. Compared to subspecialty clinics, TCPs had higher proportions of Interested responses for patients with private insurance (60.9% vs. 46.2%), Dismissed responses for patients with public insurance (30.1% vs. 20.0%), and Interested responses for non-white patients (47.7% vs. 33.3%). A targeted BPA can help researchers access more diverse groups and improve equitable representation. However, select groups more often had their alert dismissed, suggesting possible selection bias among some pediatricians regarding who should receive information about study opportunities.

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5. Hocking DR, Ardalan A, Abu-Rayya HM, Farhat H, Andoni A, Lenroot R, Kachnowski S. Feasibility of a virtual reality-based exercise intervention and low-cost motion tracking method for estimation of motor proficiency in youth with autism spectrum disorder. Journal of neuroengineering and rehabilitation. 2022; 19(1): 1.

BACKGROUND: Motor impairment is widely acknowledged as a core feature in children with autism spectrum disorder (ASD), which can affect adaptive behavior and increase severity of symptoms. Low-cost motion capture and virtual reality (VR) game technologies hold a great deal of promise for providing personalized approaches to motor intervention in ASD. The present study explored the feasibility, acceptability and potential efficacy of a custom-designed VR game-based intervention (GaitWayXR™) for improving gross motor skills in youth with ASD. METHODS: Ten children and adolescents (10-17 years) completed six, 20-min VR-based motor training sessions over 2 weeks while whole-body movement was tracked with a low-cost motion capture system. We developed a methodology for using motion tracking data to quantify whole-body movement in terms of efficiency, synchrony and symmetry. We then studied the relationships of the above quantities with standardized measures of motor skill and cognitive flexibility. RESULTS: Our results supported our presumption that the VR intervention is safe, with no adverse events and very few minor to moderate side-effects, while a large proportion of parents said they would use the VR game at home, the most prohibitive reasons for adopting the system for home therapy were cost and space. Although there was little evidence of any benefits of the GaitWayXR™ intervention in improving gross motor skills, we showed several positive correlations between the standardized measures of gross motor skills in ASD and our measures of efficiency, symmetry and synchrony from low-cost motion capture. CONCLUSIONS: These findings, though preliminary and limited by small sample size, suggest that low-cost motion capture of children with ASD is feasible with movement exercises in a VR-based game environment. Based on these preliminary findings, we recommend conducting larger-scale studies with methods for improving adherence to VR gaming interventions over longer periods.

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6. Hofer J, Tillmann J, Salzmann J, Bölte S, Fellinger J, Holzinger D. Screening for autism spectrum disorder in deaf adults with intellectual disability: Feasibility and accuracy of two autism screening instruments. Research in developmental disabilities. 2022; 122: 104167.

BACKGROUND: There is a lack of autism screening instruments for deaf or hard of hearing (DHH) adults with intellectual disability. AIMS: This study examined the diagnostic validity of the Pervasive Developmental Disorder in Mental Retardation Scale and the Diagnostic Behavioral Assessment for autism spectrum disorder – Revised in this rare population. METHODS AND PARTICIPANTS: 56 DHH adults with intellectual disability living in three specialized therapeutic communities were examined, 9 of whom met criteria for autism. OUTCOMES AND RESULTS: With minimal adaptions regarding item interpretation, both tools showed good diagnostic and high convergent validity. Items probing for difficulties in reciprocal social interaction and restricted interests were discriminant between individuals with and without autism. CONCLUSION: These data suggest that both autism screening tools are feasible and psychometrically sound when used with appropriate adaptations for DHH adults with intellectual disability.

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7. Kellerman AM, Hassan MZ, Abel EA, Reilly M, McNally Keehn R, Schwichtenberg AJ. Case Report: Autism Risk Within the Context of Two Chromosome 15 Syndromes. Journal of autism and developmental disorders. 2022.

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8. Legg H, Tickle A, Gillott A, Wilde S. Exploring the Experiences of Parents Whose Child has Received a Diagnosis of Autistic Spectrum Disorder in Adulthood. Journal of autism and developmental disorders. 2022.

There is a growing trend of adult diagnosis of Autism Spectrum Disorder (ASD). Research has found that diagnosis can prompt a process of sense-making which may be disrupted by lack of post-diagnostic support. Given the continued involvement of many parents in supporting their adult son or daughter with ASD, it is vital to understand their experiences to meet their needs in adapting to the diagnosis. Eleven parents of recently diagnosed adults participated in semi-structured interviews which were analysed thematically. Findings demonstrate that the new knowledge of diagnosis facilitates changes in attributions, interactions and relationships, but can result in unmet emotional and relational support needs. Findings are relevant to those involved in adult diagnosis, and the provision of post-diagnostic support.

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9. Luke CR, Benfer K, Mick-Ramsamy L, Ware RS, Reid N, Bos AF, Bosanquet M, Boyd RN. Early detection of Australian Aboriginal and Torres Strait Islander infants at high risk of adverse neurodevelopmental outcomes at 12 months corrected age: LEAP-CP prospective cohort study protocol. BMJ open. 2022; 12(1): e053646.

INTRODUCTION: Neurodevelopmental disorders (NDD), including cerebral palsy (CP), autism spectrum disorder (ASD) and foetal alcohol spectrum disorder (FASD), are characterised by impaired development of the early central nervous system, impacting cognitive and/or physical function. Early detection of NDD enables infants to be fast-tracked to early intervention services, optimising outcomes. Aboriginal and Torres Strait Islander infants may experience early life factors increasing their risk of neurodevelopmental vulnerability, which persist into later childhood, further compounding the health inequities experienced by First Nations peoples in Australia. The LEAP-CP prospective cohort study will investigate the efficacy of early screening programmes, implemented in Queensland, Australia to earlier identify Aboriginal and Torres Strait Islander infants who are ‘at risk’ of adverse neurodevelopmental outcomes (NDO) or NDD. Diagnostic accuracy and feasibility of early detection tools for identifying infants ‘at risk’ of a later diagnosis of adverse NDO or NDD will be determined. METHODS AND ANALYSIS: Aboriginal and/or Torres Strait Islander infants born in Queensland, Australia (birth years 2020-2022) will be invited to participate. Infants aged <9 months corrected age (CA) will undergo screening using the (1) General Movements Assessment (GMA); (2) Hammersmith Infant Neurological Examination (HINE); (3) Rapid Neurodevelopmental Assessment (RNDA) and (4) Ages and Stages Questionnaire-Aboriginal adaptation (ASQ-TRAK). Developmental outcomes at 12 months CA will be determined for: (1) neurological (HINE); (2) motor (Peabody Developmental Motor Scales 2); (3) cognitive and communication (Bayley Scales of Infant Development III); (4) functional capabilities (Paediatric Evaluation of Disability Inventory-Computer Adaptive Test) and (5) behaviour (Infant Toddler Social and Emotional Assessment). Infants will be classified as typically developing or 'at risk' of an adverse NDO and/or specific NDD based on symptomology using developmental and diagnostic outcomes for (1) CP (2) ASD and (3) FASD. The effects of perinatal, social and environmental factors, caregiver mental health and clinical neuroimaging on NDOs will be investigated. ETHICS AND DISSEMINATION: Ethics approval has been granted by appropriate Queensland ethics committees; Far North Queensland Health Research Ethics Committee (HREC/2019/QCH/50533 (Sep ver 2)-1370), the Townsville HHS Human Research Ethics Committee (HREC/QTHS/56008), the University of Queensland Medical Research Ethics Committee (2020000185/HREC/2019/QCH/50533) and the Children's Health Queensland HHS Human Research Ethics Committee (HREC/20/QCHQ/63906) with governance and support from local First Nations communities. Findings from this study will be disseminated via peer-reviewed publications and conference presentations. TRIAL REGISTRATION NUMBER: ACTRN12619000969167.

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10. Masulli P, Galazka M, Eberhard D, Johnels J, Gillberg C, Billstedt E, Hadjikhani N, Andersen TS. Data-driven analysis of gaze patterns in face perception: Methodological and clinical contributions. Cortex; a journal devoted to the study of the nervous system and behavior. 2022; 147: 9-23.

Gaze patterns during face perception have been shown to relate to psychiatric symptoms. Standard analysis of gaze behavior includes calculating fixations within arbitrarily predetermined areas of interest. In contrast to this approach, we present an objective, data-driven method for the analysis of gaze patterns and their relation to diagnostic test scores. This method was applied to data acquired in an adult sample (N = 111) of psychiatry outpatients while they freely looked at images of human faces. Dimensional symptom scores of autism, attention deficit, and depression were collected. A linear regression model based on Principal Component Analysis coefficients computed for each participant was used to model symptom scores. We found that specific components of gaze patterns predicted autistic traits as well as depression symptoms. Gaze patterns shifted away from the eyes with increasing autism traits, a well-known effect. Additionally, the model revealed a lateralization component, with a reduction of the left visual field bias increasing with both autistic traits and depression symptoms independently. Taken together, our model provides a data-driven alternative for gaze data analysis, which can be applied to dimensionally-, rather than categorically-defined clinical subgroups within a variety of contexts. Methodological and clinical contribution of this approach are discussed.

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11. Meliskova V, Havranek T, Bacova Z, Bakos J. The role of selected postsynaptic scaffolding proteins at glutamatergic synapses in autism-related animal models. Journal of integrative neuroscience. 2021; 20(4): 1047-57.

Pathological changes in synapse formation, plasticity, and development are caused by altered trafficking and assembly of postsynaptic scaffolding proteins at sites of glutamatergic and gamma-aminobutyric acid (GABA)ergic synapses, suggesting their involvement in the etiology of neurodevelopmental disorders, including autism. Several autism-related mouse models have been developed in recent years for studying molecular, cellular, and behavioural defects in order to understand the etiology of autism and test the potential treatment strategies. In this review, we explain the role of alterations in selected postsynaptic scaffolding proteins in relevant transgene autism-like mouse models. We also provide a summary of selected animal models by paying special attention to interactions between guanylate kinases or membrane-associated guanylate kinases (MAGUKs), as well as other synapse protein components which form functional synaptic networks. The study of early developmental stages of autism-relevant animal models can help us understand the origin and development of diverse autistic symptomatology.

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12. Ramos-Cabo S, Acha J, Vulchanov V, Vulchanova M. You may point, but do not touch: Impact of gesture-types and cognition on language in typical and atypical development. International journal of language & communication disorders. 2022; 57(2): 324-39.

BACKGROUND: Evidence shows that the relation with the referent (object manipulation, contact/no contact pointing) and the different hand features (index finger/open palm) when pointing indicate different levels of cognitive and linguistic attainment in typical development (TD). This evidences the close link between pointing, cognition and language in TD, but this relation is understudied in autism. Moreover, the longitudinal pathway these abilities follow remains unexplored and it is unclear what specific role (predictor or mediator) pointing and cognition have in both typical and atypical language development. AIMS: The first aim was to investigate whether pointing hand features (index finger/open palm) and relation with the referent (manipulation, contact and no contact pointing) similarly predict language in children with and without autism. The second aim was to explore whether cognition mediates the longitudinal relationship between pointing and language development. METHODS & PROCEDURES: Sixteen children with autism, 13 children at high risk (HR) for autism and 18 TD children participated in an interactive gesture-elicitation task and were tested on standardised cognitive and expressive language batteries in a longitudinal design. A two-step analysis consisted of a stepwise linear regression and mediation analyses. First, the linear regression identified which hand features and types of relation with the referent predicted expressive language in all groups. Second, three mediation analyses (one per group) assessed the predictor/mediator role of the variables that met significance in the regression analysis. OUTCOMES & RESULTS: Both cognition and index finger pointing were direct longitudinal predictors of further expressive language skills in the autism group. In TD and HR groups this relation was mediated by age. CONCLUSIONS & IMPLICATIONS: Findings highlight the role of age in communicative development, but suggest a key role of cognition and index finger use in the longitudinal relationship between pointing gestures and expressive language development in children with autism. This has important clinical implications and supports the view that index finger pointing production might be a useful tool in the intervention for communicative and language abilities in autism. WHAT THIS PAPER ADDS: What is already known on the subject There is evidence that no contact pointing is associated with complex socio-cognitive abilities that underpin communication in TD. Similarly, studies in TD show that index finger pointing is closely linked with language acquisition. However, it is unclear whether these associations are present in autism. In addition, the mediating (or predictive) role of cognition in the pointing-language relation has not yet been explored neither in typical nor in atypical development. What this paper adds to existing knowledge This paper shows that index finger pointing and cognition are direct longitudinal predictors of expressive language in the autism group. In the other groups this relation is mediated by age. This suggests that there is a window of opportunity for pointing to predict expressive language whereas the predictive value of cognition expands in development. Based on this, children with autism would share the same language predictors as TD children, but with delays. What are the potential or actual clinical implications of this work? This study reveals that index finger, age and cognition reliably predict spoken language in autism, which may indicate that early prelinguistic intervention based on pointing production and the improvement of cognitive skills might have a positive impact on spoken language in this population.

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13. Root BV, Melgarejo M, Suhrheinrich J. Proactive versus Reactive: Strategies in the Implementation of School-based Services for Students with ASD. Administration and policy in mental health. 2022.

Autism spectrum disorder (ASD) is increasingly prevalent, intervention costs are high, and long-term outcomes are poor. Proactive implementation of evidence-based practices (EBPs; Steinbrenner et al., Evidence-Based Practices for Children, Youth, and Young Adults with Autism, 2020) through an assessment or planning process can lead to more effective services (Rubin et al., Admin Policy Mental Health Mental Health Serv Res 43(6), 1023-1028, 2016). The objective of this study is (a) to identify factors associated with the use of proactive versus reactive strategies for school-based services for students with ASD and (b) to examine school personnel perceptions of the use of proactive versus reactive strategies. Data were from a larger project in which 6 semi-structured focus groups were conducted to understand school personnel perceptions of how school districts implement new programs for ASD. Transcripts were coded using an iterative coding and review process. In the present study, primary themes were identified and classified as proactive or reactive. Participants reported both proactive and reactive allocation of district resources for intervention implementation. Reactive implementation was associated with litigation or due process, escalated student behavior, and non-public school placement, whereas proactive implementation was associated with ASD-specific programming, grants, personnel experience with EBPs, and prospective needs assessment. Participants perceived the reactive strategies as disadvantageous, and yet these strategies were sometimes still employed. Understanding the role of proactive and reactive strategies and the factors that influence their use could enable more effective planning for EBP use to improve both cost savings and student outcomes. This study is an important first step to explore resource allocation for school-based services for students with ASD.

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