1. Arya Y, Mishra D, Juneja M, Gupta A. Factors Affecting Quality of Life in Adolescent Siblings of Children with Autism Spectrum Disorder. Indian Pediatr;2023 (May 19)

OBJECTIVES: To compare the Quality of Life (QoL) of adolescent siblings of children with ASD (ASD-Sibs), with siblings of typically developing children (TD-Sibs), and study the factors affecting the QoL. METHODS: Between 1 February, 2021 and 31 September, 2021, 40 children aged 10-18 y, whose sibling was suffering from ASD, were enrolled (Study group). 40 age- and sex-matched siblings of children with no clinically apparent neuro developmental abnormality or behavioral problem were also enrolled (Control group). Severity of autism was assessed by using the CARS-2 score. QoL was assessed by a validated version of the World Health Organization Quality of Life questionnaire Brief version (WHO QoL BREF), and compared between cases and controls using Wilcoxon rank sum test. RESULTS: The mean (SD) age of study participants was 13.55 (2.75) years. The mean (SD) CARS-2 score of our sample was 35.78 (5.23). Mild to moderate autism was seen in 23 (57.5%) children and 13 (32.5%) had severe autism. The median (IQR) QoL in ASD-Sibs was worse than TD-Sibs in physical domain (24 (19,26) vs 32 (29,32); P<0.001), psychological domain (22 (17,23) vs 25 (23,25); P<0.001), social domain (11 (8,12) vs 13 (11,14); P<0.001), and environmental domain (28 (26,31) vs 35 (31,35); P<0.001). Among the ASD-Sibs, severity of the sibling's ASD and the family's socioeconomic status were the only two factors significantly affecting one of the domains of QoL. CONCLUSION: The observed lower QoJL score in adolescent siblings of children with ASD, more os in those whose siblings had more severe ASD, suggests the need for targeting the family as a unit while formulating plans for holistic management of children with ASD.

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2. Donovan J, Chiatti BD, McKeever A, Bloch JR, Gonzales MS, Birati Y. « Yes, I can bond. » Reflections of autistic women’s mothering experiences in the early postpartum period. Womens Health (Lond);2023 (Jan-Dec);19:17455057231175312.

BACKGROUND: Autism is a neurodevelopmental condition affecting communication and social interaction. Much of the research regarding childbirth and motherhood is focused on non-autistic women. Autistic mothers may experience challenges communicating their needs to health care professionals and find aspects of the hospital environment distressing, indicating a need for more informed practice. OBJECTIVE: To describe the experiences of autistic women bonding with their newborns after delivery in an acute care setting. DESIGN: The study used a qualitative interpretative description design with data analysis using the method described by Knafl and Webster. The study explored the women’s childbirth experiences in the early postpartum period. METHOD: Interviews were conducted using a semi-structured interview guide. The women were interviewed in a setting of their choosing and included in person meetings, meetings over Skype, over the telephone, or via Facebook messenger. Twenty-four women ages 29-65 years participated in the study. The women were from the United States, the United Kingdom, and Australia. All women gave birth to a healthy term newborn in an acute care setting. RESULTS: Three major themes emerged from the data: having difficulty communicating, feeling stressed in an uncertain environment, and being an autistic mother. CONCLUSION: The autistic mothers in the study expressed love and concern for their babies. Some women described needing more time to recover physically and emotionally before assuming care of the newborn. The stress of childbirth left them exhausted and the demands of caring for a newborn could be overwhelming for some women. Miscommunication during labor affected some of the women’s ability to trust the nurses caring for them and, in two cases, left the women feeling judged as mothers.

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3. Duville MM, Ibarra-Zarate DI, Alonso-Valerdi LM. Autistic traits shape neuronal oscillations during emotion perception under attentional load modulation. Sci Rep;2023 (May 20);13(1):8178.

Emotional content is particularly salient, but situational factors such as cognitive load may disturb the attentional prioritization towards affective stimuli and interfere with their processing. In this study, 31 autistic and 31 typically developed children volunteered to assess their perception of affective prosodies via event-related spectral perturbations of neuronal oscillations recorded by electroencephalography under attentional load modulations induced by Multiple Object Tracking or neutral images. Although intermediate load optimized emotion processing by typically developed children, load and emotion did not interplay in children with autism. Results also outlined impaired emotional integration emphasized in theta, alpha and beta oscillations at early and late stages, and lower attentional ability indexed by the tracking capacity. Furthermore, both tracking capacity and neuronal patterns of emotion perception during task were predicted by daily-life autistic behaviors. These findings highlight that intermediate load may encourage emotion processing in typically developed children. However, autism aligns with impaired affective processing and selective attention, both insensitive to load modulations. Results were discussed within a Bayesian perspective that suggests atypical updating in precision between sensations and hidden states, towards poor contextual evaluations. For the first time, implicit emotion perception assessed by neuronal markers was integrated with environmental demands to characterize autism.

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4. Fears NE, Sherrod GM, Blankenship D, Patterson RM, Hynan LS, Wijayasinghe I, Popa DO, Bugnariu NL, Miller HL. Motor differences in autism during a human-robot imitative gesturing task. Clin Biomech (Bristol, Avon);2023 (May 13);106:105987.

BACKGROUND: Difficulty with imitative gesturing is frequently observed as a clinical feature of autism. Current practices for assessment of imitative gesturing ability-behavioral observation and parent report-do not allow precise measurement of specific components of imitative gesturing performance, instead relying on subjective judgments. Advances in technology allow researchers to objectively quantify the nature of these movement differences, and to use less socially stressful interaction partners (e.g., robots). In this study, we aimed to quantify differences in imitative gesturing between autistic and neurotypical development during human-robot interaction. METHODS: Thirty-five autistic (n = 19) and neurotypical (n = 16) participants imitated social gestures of an interactive robot (e.g., wave). The movements of the participants and the robot were recorded using an infrared motion-capture system with reflective markers on corresponding head and body locations. We used dynamic time warping to quantify the degree to which the participant’s and robot’s movement were aligned across the movement cycle and work contribution to determine how each joint angle was producing the movements. FINDINGS: Results revealed differences between autistic and neurotypical participants in imitative accuracy and work contribution, primarily in the movements requiring unilateral extension of the arm. Autistic individuals imitated the robot less accurately and used less work at the shoulder compared to neurotypical individuals. INTERPRETATION: These findings indicate differences in autistic participants’ ability to imitate an interactive robot. These findings build on our understanding of the underlying motor control and sensorimotor integration mechanisms that support imitative gesturing in autism which may aid in identifying appropriate intervention targets.

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5. Husebye ESN, Romanowska J, Bjørke-Monsen AL, Gilhus NE, Selmer K, Gervin K, Riedel B, Bjørk MH. Does maternal genetic liability to folate deficiency influence the risk of antiseizure medication-associated language impairment and autistic traits in children of women with epilepsy?. Am J Clin Nutr;2023 (May 20)

BACKGROUND: Prenatal exposure to antiseizure medication (ASM) may lead to low plasma folate concentrations and is associated with impaired neurodevelopment. OBJECTIVE: To examine whether maternal genetic liability to folate deficiency interacts with ASM-associated risk of language impairment and autistic traits in children of women with epilepsy. METHODS: We included children of women with and without epilepsy and with available genetic data enrolled in the Norwegian Mother, Father, and Child Cohort Study (MoBa). Information on ASM use, folic acid supplement use and dose, dietary folate intake, child autistic traits, and child language impairment was obtained from parent-reported questionnaires. Using logistic regression, we examined the interaction between prenatal ASM exposure and maternal genetic liability to folate deficiency expressed as polygenic risk score (PRS) of low folate concentrations or maternal rs1801133 genotype (CC or CT/TT) on risk of language impairment or autistic traits. RESULTS: We included 96 children of women with ASM-treated epilepsy, 131 children of women with ASM-untreated epilepsy, and 37,249 children of women without epilepsy. The PRS of low folate concentrations or the maternal rs1801133 genotype did not interact with the ASM-associated risk of language impairment or autistic traits in ASM-exposed children of women with epilepsy compared to ASM-unexposed children aged 1.5-8 years. ASM-exposed children had increased risk of adverse neurodevelopment regardless of maternal rs1801133 genotype (adjusted odds ratio (aOR) for language impairment age 8 years was 2.88 (95% confidence interval (CI) 1.00-8.26) if CC and aOR 2.88 (CI 1.10-7.53) if CT/TT genotypes). In children of women without epilepsy aged 3 years, those with maternal rs1801133 CT/TT compared to CC genotype had increased risk of language impairment (aOR 1.18, CI 1.05-1.34). CONCLUSIONS: In this cohort of pregnant women reporting widespread use of folic acid supplements, maternal genetic liability to folate deficiency did not significantly influence the ASM-associated risk of impaired neurodevelopment.

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6. Liu S, Deng T, Chen M, Ji Y, Dai Y, Zhang T, Zhang L. Parenting confidence and social support as predictors of coping strategies in parents of children newly diagnosed with autism spectrum disorder: A cross-sectional study. J Adv Nurs;2023 (May 20)

AIMS: The aims of the study were to describe coping strategies in parents of children with autism spectrum disorder at the early stage of diagnosis and to examine the predictive effects of parenting confidence and social support on coping strategies. DESIGN: A descriptive cross-sectional study. METHODS: A convenience sample of 193 parents of children newly diagnosed with autism spectrum disorder in Guangzhou, China, were included from October 2020 to January 2021. The Simplified Coping Style Questionnaire, Parenting Sense of Competence Scale and Social Support Rating Scale were employed for data collection. Multiple hierarchical regression analyses examined the relationship between coping strategies and the independent variables. RESULTS: The mean positive coping strategies score was higher than the negative coping strategies score. Parenting efficacy, subjective support and support utilization predicted positive coping strategies, and parenting satisfaction was a protective factor against negative coping strategies. CONCLUSION: Parents tend to engage in positive coping at the early stage of diagnosis. Improving parenting confidence and social support might help parents adopt positive coping strategies and prevent negative coping. IMPACT: More effective and long-term support for families of children with autism spectrum disorder is expected. Interventions should be focused on enhancing parenting satisfaction and efficacy to employ positive coping strategies and decrease negative coping. REPORTING METHOD: We adhered to EQUATOR guidelines and reported results based on STROBE guidelines. PATIENT OR PUBLIC CONTRIBUTION: No patient or public involvement.

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7. Loncarevic A, Maybery MT, Barbaro J, Dissanayake C, Green J, Hudry K, Iacono T, Slonims V, Varcin KJ, Wan MW, Wray J, Whitehouse AJO. Parent-Child Interactions May Help to Explain Relations Between Parent Characteristics and Clinically Observed Child Autistic Behaviours. J Autism Dev Disord;2023 (May 20)

The importance of supporting parent-child interactions has been noted in the context of prodromal autism, but little consideration has been given to the possible contributing role of parental characteristics, such as psychological distress. This cross-sectional study tested models in which parent-child interaction variables mediated relations between parent characteristics and child autistic behaviour in a sample of families whose infant demonstrated early signs of autism (N = 103). The findings suggest that associations between parent characteristics (psychological distress; aloofness) and child autistic behaviours may be mediated by the child’s inattentiveness or negative affect during interactions. These findings have important implications in developing and implementing interventions in infancy which target the synchrony of parent-child interaction with the goal to support children’s social communication development.

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8. Ortega J, Chen Z, Whitney D. Inferential Emotion Tracking reveals impaired context-based emotion processing in individuals with high Autism Quotient scores. Sci Rep;2023 (May 19);13(1):8093.

Emotion perception is essential for successful social interactions and maintaining long-term relationships with friends and family. Individuals with autism spectrum disorder (ASD) experience social communication deficits and have reported difficulties in facial expression recognition. However, emotion recognition depends on more than just processing face expression; context is critically important to correctly infer the emotions of others. Whether context-based emotion processing is impacted in those with Autism remains unclear. Here, we used a recently developed context-based emotion perception task, called Inferential Emotion Tracking (IET), and investigated whether individuals who scored high on the Autism Spectrum Quotient (AQ) had deficits in context-based emotion perception. Using 34 videos (including Hollywood movies, home videos, and documentaries), we tested 102 participants as they continuously tracked the affect (valence and arousal) of a blurred-out, invisible character. We found that individual differences in Autism Quotient scores were more strongly correlated with IET task accuracy than they are with traditional face emotion perception tasks. This correlation remained significant even when controlling for potential covarying factors, general intelligence, and performance on traditional face perception tasks. These findings suggest that individuals with ASD may have impaired perception of contextual information, it reveals the importance of developing ecologically relevant emotion perception tasks in order to better assess and treat ASD, and it provides a new direction for further research on context-based emotion perception deficits in ASD.

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9. Reaven J, Pickard K, Meyer AT, Hayutin L, Middleton C, Reyes NM, Tanda T, Stahmer A, Blakeley-Smith A, Boles RE. Implementing school-based cognitive behavior therapy for anxiety in students with autism or suspected autism via a train-the-trainer approach: Results from a clustered randomized trial. Autism;2023 (May 19):13623613231175951.

Autistic youth frequently experience anxiety that can negatively affect them at home, with friends, and at school. Autistic youth have difficulty accessing mental health care, and this is particularly true for youth from traditionally underserved backgrounds. Providing mental health programs in schools may increase access to care for autistic youth with anxiety. The purpose of the study was to train interdisciplinary school providers to deliver school-based Facing Your Fears, a cognitive behavior therapy program for anxiety in autistic youth. Seventy-seven interdisciplinary school providers across 25 elementary/middle schools were trained by their colleagues and members of the research (train-the-trainer approach). Eighty-one students with autism or suspected autism, ages 8-14 years, were randomly assigned to either school-based Facing Your Fears or usual care. Students in school-based Facing Your Fears showed significant reductions in anxiety compared to students in usual care according to caregiver and student report. Other measures involved examining change in provider cognitive behavior therapy knowledge after training and determining how well interdisciplinary school providers were able to deliver school-based Facing Your Fears. Results indicated that interdisciplinary school providers showed significant improvements in cognitive behavior therapy knowledge after training. Interdisciplinary school providers were able to deliver most of school-based Facing Your Fears activities and with good quality. The positive outcomes in this study are encouraging. Training interdisciplinary school providers to deliver school-based Facing Your Fears may increase access to care for anxious autistic students. Future directions and limitations are discussed.

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10. Rieder AD, Viljoen M, Seris N, Shabalala N, Ndlovu M, Turner EL, Simmons R, de Vries PJ, Franz L. Improving access to early intervention for autism: findings from a proof-of-principle cascaded task-sharing naturalistic developmental behavioural intervention in South Africa. Child Adolesc Psychiatry Ment Health;2023 (May 20);17(1):64.

BACKGROUND: Despite the high number of children living with neurodevelopmental disabilities in sub-Saharan Africa, access to early intervention is almost non-existent. It is therefore important to develop feasible, scalable early autism intervention that can be integrated into systems of care. While Naturalistic Developmental Behavioural Intervention (NDBI) has emerged as an evidence-based intervention approach, implementation gaps exist globally, and task-sharing approaches may address access gaps. In this South African proof-of-principle pilot study, we set out to answer two questions about a 12-session cascaded task-sharing NDBI-whether the approach could be delivered with fidelity, and whether we could identify signals of change in child and caregiver outcomes. METHODS: We utilized a single-arm pre-post design. Fidelity (non-specialists, caregivers), caregiver outcomes (stress, sense of competence), and child outcomes (developmental, adaptive) were measured at baseline (T1) and follow-up (T2). Ten caregiver-child dyads and four non-specialists participated. Pre-to-post summary statistics were presented alongside individual trajectories. Non-parametric Wilcoxon signed rank test for paired samples was used to compare group medians between T1 and T2. RESULTS: Caregiver implementation fidelity increased in 10/10 participants. Non-specialists demonstrated a significant increase in coaching fidelity (increases in 7/10 dyads). Significant gains were seen on two Griffiths-III subscales (Language/Communication-9/10 improved, Foundations of Learning-10/10 improved) and on the General Developmental Quotient (9/10 improved). Significant gains were also seen on two Vineland Adaptive Behaviour Scales (Third Edition) subscales (Communication-9/10 improved, Socialization-6/10 improved) and in the Adaptive Behaviour Standard Score (9/10 improved). Caregiver sense of competence improved in 7/10 caregivers and caregiver stress in 6/10 caregivers. CONCLUSIONS: This proof-of-principle pilot study of the first cascaded task-sharing NDBI in Sub-Saharan Africa provided fidelity and intervention outcome data which supported the potential of such approaches in low-resource contexts. Larger studies are needed to expand on the evidence-base and answer questions on intervention effectiveness and implementation outcomes.

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11. Schembri-Mutch TM, McCrimmon AW, Zwiers ML. Understanding the Needs of Autistic Post-Secondary Students. J Autism Dev Disord;2023 (May 20)

Autistic students are a growing subgroup within post-secondary schooling; however, little is known about barriers to their success in that context. Research suggests autistic students face more challenges to completing post-secondary education than neurotypical students, but findings often rely on expert opinion and fail to incorporate first-hand perspectives. To address this gap, a qualitative inquiry into barriers to success for autistic post-secondary students was conducted. Thematic Analysis yielded 10 themes in three categories, while two separate cross-cutting themes emerged; themes interact with one another, intensifying concerns of autistic students. Findings can support post-secondary institutions to reflect on the extent to which these barriers are present for their autistic students and modify support services accordingly.

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12. Shin U, Choi Y, Ko HS, Myung K, Lee S, Cheon CK, Lee Y. A heterozygous mutation in UBE2H in a patient with developmental delay leads to an aberrant brain development in zebrafish. Hum Genomics;2023 (May 19);17(1):44.

BACKGROUND: Ubiquitin-related rare diseases are generally characterized by developmental delays and mental retardation, but the exact incidence or prevalence is not yet fully understood. The clinical application of next-generation sequencing for pediatric seizures and developmental delay of unknown causes has become common in studies aimed at identification of a causal gene in patients with ubiquitin-related rare diseases that cannot be diagnosed using conventional fluorescence in situ hybridization or chromosome microarray tests. Our study aimed to investigate the effects of ubiquitin-proteasome system on ultra-rare neurodevelopmental diseases, through functional identification of candidate genes and variants. METHODS: In our present work, we carried out genome analysis of a patient with clinical phenotypes of developmental delay and intractable convulsion, to identify causal mutations. Further characterization of the candidate gene was performed using zebrafish, through gene knockdown approaches. Transcriptomic analysis using whole embryos of zebrafish knockdown morphants and additional functional studies identified downstream pathways of the candidate gene affecting neurogenesis. RESULTS: Through trio-based whole-genome sequencing analysis, we identified a de novo missense variant of the ubiquitin system-related gene UBE2H (c.449C>T; p.Thr150Met) in the proband. Using zebrafish, we found that Ube2h is required for normal brain development. Differential gene expression analysis revealed activation of the ATM-p53 signaling pathway in the absence of Ube2h. Moreover, depletion of ube2h led to induction of apoptosis, specifically in the differentiated neural cells. Finally, we found that a missense mutation in zebrafish, ube2h (c.449C>T; p.Thr150Met), which mimics a variant identified in a patient with neurodevelopmental defects, causes aberrant Ube2h function in zebrafish embryos. CONCLUSION: A de novo heterozygous variant in the UBE2H c.449C>T (p.Thr150Met) has been identified in a pediatric patient with global developmental delay and UBE2H is essential for normal neurogenesis in the brain.

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