1. Chan MMY, Chan MC, Yeung MK, Wang SM, Liu D, Han YMY. Aberrant prefrontal functional connectivity during verbal fluency test is associated with reading comprehension deficits in autism spectrum disorder: An fNIRS study. Front Psychol;2022;13:984777.

Children with autism spectrum disorder (ASD) show marked difficulties in reading comprehension, a complex cognitive skill fundamental to successful daily functioning that is associated with core executive functions. However, the neurophysiological mechanisms underlying reading comprehension deficits in these children remain elusive. Twenty-one right-handed males with high-functioning ASD (mean age = 10.24 years) and 23 age-, IQ-, educational level-, sex- and handedness-matched typically developing (TD; mean age = 10.14 years) individuals underwent a reading comprehension test and the semantic verbal fluency test that tapped core executive functions underlying reading comprehension during concurrent prefrontal functional near-infrared spectroscopy (fNIRS) measurement. Participants’ information processing efficiency was also assessed. High-functioning ASD children exhibited general reading comprehension [main effect of group: F ((1,40)) = 7.58, p = 0.009], selective verbal fluency deficits [Group × category interaction: F ((1,42)) = 4.90, p = 0.032] and slower processing speed (t (42) = 2.36, p = 0.023). Regarding the hemodynamics of the prefrontal cortex (PFC), although ASD individuals showed comparable patterns of PFC brain activation to their healthy counterparts, lower PFC intrahemispheric [main effect of group: F ((1,42)) = 11.36, p = 0.002] and interhemispheric [main effect of group: F ((1,42)) = 7.79, p = 0.008] functional connectivity were evident during the semantic verbal fluency test. At the whole-group level, poorer reading comprehension performance was associated with poorer performance in the semantic verbal fluency test (r (42) = 0.508, p < 0.001). Moreover, poorer semantic verbal fluency test performance was associated with slower information processing speed (r (42) = -0.312, p = 0.044), which is associated with reduced left medial PFC functional connectivity (r (42) = -0.319, p = 0.040). Abnormal intrahemispheric and interhemispheric prefrontal hypoconnectivity is associated with deficits in executive processes essential for reading comprehension in ASD. Our study has provided important implications for the neuropsychological and neurophysiological mechanisms underlying reading comprehension deficits in ASD.

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2. Cleary M, West S, McLean L, Kornhaber R, Hungerford C. Two Halves of the Same Whole: A Framework to Integrate Autism and Mental Health Services. Issues Ment Health Nurs;2022 (Oct 7):1-11.

Given the higher rates of co-occurring mental health issues experienced by autistic people, there is a pressing need to implement an effective framework that integrates autism services with appropriate mental health services. This paper discusses the impact of mental illness on the person with autism and their families, and the current challenges they face when accessing mental health support. A framework for service providers is proposed to support the mental health needs and preferences of autistic people. The paper concludes by highlighting the importance of health professionals utilising mental health interventions appropriate for autistic people, including autism-specific suicide prevention and awareness programs.

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3. Haigh SM, Van Key L, Brosseau P, Eack SM, Leitman DI, Salisbury DF, Behrmann M. Assessing Trial-to-Trial Variability in Auditory ERPs in Autism and Schizophrenia. J Autism Dev Disord;2022 (Oct 7)

Sensory abnormalities are characteristic of autism and schizophrenia. In autism, greater trial-to-trial variability (TTV) in sensory neural responses suggest that the system is more unstable. However, these findings have only been identified in the amplitude and not in the timing of neural responses, and have not been fully explored in schizophrenia. TTV in event-related potential amplitudes and inter-trial coherence (ITC) were assessed in the auditory mismatch negativity (MMN) in autism, schizophrenia, and controls. MMN was largest in autism and smallest in schizophrenia, and TTV was greater in autism and schizophrenia compared to controls. There were no differences in ITC. Greater TTV appears to be characteristic of both autism and schizophrenia, implicating several neural mechanisms that could underlie sensory instability.

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4. Hajj A, Hallit S, El-Khatib R, Abi Haidar S, Hajj Moussa Lteif F, Hajj L, Moudawar M, Rabbaa Khabbaz L. Pre-, Peri-, and Neonatal Factors Associated with Autism Spectrum Disorder: Results of a Lebanese Case-control Study. Innov Clin Neurosci;2022 (Jul-Sep);19(7-9):22-27.

OBJECTIVE: The prevalence of autism spectrum disorder (ASD) in Lebanon is higher than what is reported by the World Health Organization (WHO), leading to the thought that the Lebanese population has some specific risk factors for ASD. Therefore, it is important to conduct more robust studies on this population. We conducted this study to identify pre-, peri-, and neonatal risk factors for ASD. Our ultimate goal was to detect and change some modifiable risk factors, thus reducing the incidence of ASD. DESIGN: A case-control study was conducted using a random proportional sample of Lebanese children with ASD to explore whether risk factors, such as family history, pregnancy (including all medication and substances taken during pregnancy and infection history), gestational age, delivery, birth milestones, and the neonate’s condition at birth could be associated with a higher prevalence of ASD. The local ethical committee approved the study (USJ-2016-91), and all parents gave their written consent. RESULTS: A total of 66 children with ASD and 66 controls were included. The results of the multivariable analysis showed that a higher gestational weight gain (adjusted odds ratio [ORa]: 1.11) was significantly associated with higher odds of autism, whereas female sex (ORa: 0.13) and higher number of weeks of gestation (ORa: 0.76) were significantly associated with lower odds of autism. CONCLUSION: Such results are of great relevance, since many of the identified factors herein could be avoidable or modifiable, suggesting the need for implementing timely and appropriate public health strategies for disease prevention in pregnant women that could reduce ASD.

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5. Javed H, Park CH. Promoting Social Engagement With a Multi-Role Dancing Robot for In-Home Autism Care. Front Robot AI;2022;9:880691.

This work describes the design of real-time dance-based interaction with a humanoid robot, where the robot seeks to promote physical activity in children by taking on multiple roles as a dance partner. It acts as a leader by initiating dances but can also act as a follower by mimicking a child’s dance movements. Dances in the leader role are produced by a sequence-to-sequence (S2S) Long Short-Term Memory (LSTM) network trained on children’s music videos taken from YouTube. On the other hand, a music orchestration platform is implemented to generate background music in the follower mode as the robot mimics the child’s poses. In doing so, we also incorporated the largely unexplored paradigm of learning-by-teaching by including multiple robot roles that allow the child to both learn from and teach to the robot. Our work is among the first to implement a largely autonomous, real-time full-body dance interaction with a bipedal humanoid robot that also explores the impact of the robot roles on child engagement. Importantly, we also incorporated in our design formal constructs taken from autism therapy, such as the least-to-most prompting hierarchy, reinforcements for positive behaviors, and a time delay to make behavioral observations. We implemented a multimodal child engagement model that encompasses both affective engagement (displayed through eye gaze focus and facial expressions) as well as task engagement (determined by the level of physical activity) to determine child engagement states. We then conducted a virtual exploratory user study to evaluate the impact of mixed robot roles on user engagement and found no statistically significant difference in the children’s engagement in single-role and multiple-role interactions. While the children were observed to respond positively to both robot behaviors, they preferred the music-driven leader role over the movement-driven follower role, a result that can partly be attributed to the virtual nature of the study. Our findings support the utility of such a platform in practicing physical activity but indicate that further research is necessary to fully explore the impact of each robot role.

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6. Johnston KJ, Chin MH, Pollack HA. Health Equity for Individuals With Intellectual and Developmental Disabilities. JAMA;2022 (Oct 7)

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7. Kulasinghe K, Whittingham K, Mitchell AE, Boyd RN. Psychological interventions targeting mental health and the mother-child relationship in autism: Systematic review and meta-analysis. Dev Med Child Neurol;2022 (Oct 8)

AIM: To investigate the efficacy of psychological interventions delivered to mothers of young children with autism spectrum disorder (ASD) in improving maternal mental health and the parent-child relationship. METHOD: Electronic databases were searched from inception to December 2021. Studies were included if they were randomized controlled trials (RCTs) of psychological interventions that targeted maternal mental health (primary outcome) and/or the parent-child relationship (secondary outcome), delivered to mothers of children (mean age < 60 months) with ASD. Meta-analyses of three parent mental health outcomes (stress, depressive symptomatology, and general mental health) and seven parent-child relationship outcomes (parent responsiveness, affect, directiveness, non-directiveness, child initiation, infant positive affect, and infant attentiveness) were conducted using both mean and standardized mean differences. RESULTS: Thirty-two RCTs met the inclusion criteria (2336 participants). Six RCTs showed improved maternal mental health (Cohen's d = 0.41-1.15), with moderate certainty of evidence for improvement in parental stress. There was low and high certainty of evidence of treatment effect on parental depressive symptoms and general mental health respectively, which did not show significant treatment effects post-intervention. Seventeen RCTs showed improved parent-child relationship (d = 0.33-2.28; low certainty of evidence). INTERPRETATION: Results demonstrated that parenting interventions promoting responsiveness had the largest positive effect on the parent-child relationship and a moderate effect on overall parenting stress; however, the studies were heterogeneous, making it difficult to identify the intervention components that were responsible for the positive treatment effects. There was no significant treatment effect for studies targeting depression or general mental health, likely due to the lack of an interventional component directly targeting mental health.

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8. Meimei L, Zenghui M. A systematic review of telehealth screening, assessment, and diagnosis of autism spectrum disorder. Child Adolesc Psychiatry Ment Health;2022 (Oct 8);16(1):79.

There is a significant delay between parents having concerns and receiving a formal assessment and Autism Spectrum Disorder (ASD) diagnosis. Telemedicine could be an effective alternative that shortens the waiting time for parents and primary health providers in ASD screening and diagnosis. We conducted a systematic review examining the uses of telemedicine technology for ASD screening, assessment, or diagnostic purposes and to what extent sample characteristics and psychometric properties were reported. This study searched four databases from 2000 to 2022 and obtained 26 studies that met the inclusion criteria. The 17 applications used in these 26 studies were divided into three categories based on their purpose: screening, diagnostic, and assessment. The results described the data extracted, including study characteristics, applied methods, indicators seen, and psychometric properties. Among the 15 applications with psychometric properties reported, the sensitivity ranged from 0.70 to 1, and the specificity ranged from 0.38 to 1. The present study highlights the strengths and weaknesses of current telemedicine approaches and provides a basis for future research. More rigorous empirical studies with larger sample sizes are needed to understand the feasibility, strengths, and limitations of telehealth technologies for screening, assessing, and diagnosing ASD.

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9. Moldenhauer HJ, Dinsdale RL, Alvarez S, Fernández-Jaén A, Meredith AL. Effect of an autism-associated KCNMB2 variant, G124R, on BK channel properties. Curr Res Physiol;2022;5:404-413.

BK K(+) channels are critical regulators of neuron and muscle excitability, comprised of a tetramer of pore-forming αsubunits from the KCNMA1 gene and cell- and tissue-selective β subunits (KCNMB1-4). Mutations in KCNMA1 are associated with neurological disorders, including autism. However, little is known about the role of neuronal BK channel β subunits in human neuropathology. The β2 subunit is expressed in central neurons and imparts inactivation to BK channels, as well as altering activation and deactivation gating. In this study, we report the functional effect of G124R, a novel KCNMB2 mutation obtained from whole-exome sequencing of a patient diagnosed with autism spectrum disorder. Residue G124, located in the extracellular loop between TM1 and TM2, is conserved across species, and the G124R missense mutation is predicted deleterious with computational tools. To investigate the pathogenicity potential, BK channels were co-expressed with β2(WT) and β2(G124R) subunits in HEK293T cells. BK/β2 currents were assessed from inside-out patches under physiological K(+) conditions (140/6 mM K(+) and 10 μM Ca(2+)) during activation and inactivation (voltage-dependence and kinetics). Using β2 subunits lacking inactivation (β2IR) revealed that currents from BK/β2IR(G124R) channels activated 2-fold faster and deactivated 2-fold slower compared with currents from BK/β2IR(WT) channels, with no change in the voltage-dependence of activation (V(1/2)). Despite the changes in the BK channel opening and closing, BK/β2(G124R) inactivation rates (τ(inact) and τ(recovery)), and the V(1/2) of inactivation, were unaltered compared with BK/β2(WT) channels under standard steady-state voltage protocols. Action potential-evoked current was also unchanged. Thus, the mutant phenotype suggests the β2(G124R) TM1-TM2 extracellular loop could regulate BK channel activation and deactivation kinetics. However, additional evidence is needed to validate pathogenicity for this patient-associated variant in KCNMB2.

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10. Pang R, Yan S, Tu Y, Qian S, Yu H, Hu X, Wen H, Yuan W, Wang X, Zhou Y. Transient Hearing Abnormalities Precede Social Deficits in A Mouse Model of Autism. Behav Brain Res;2022 (Oct 4):114149.

Hearing abnormalities are important symptoms of autism spectrum disorders (ASDs), a neurological and developmental disorder. However, the characteristics of hearing abnormalities associated with ASD during development have not been fully investigated. We found that in Shank3B knockout mice (a high-confidence mouse model of ASD), transient hearing abnormalities can be found in auditory brainstem response, auditory cortical activity, as well as acoustic startle response. More importantly, all hearing abnormalities at 4 weeks were most prominent and preceded the onset of social deficits at 6 weeks. These hearing abnormalities gradually recovered with age. In addition, analysis of ABR data at 4 weeks using Support Vector Machine (SVM) can faithfully predict the genotype of mice with an accuracy of 85.71%. These findings not only revealed hearing changes in Shank3B knockout autistic-like mice during development, but also suggested that hearing abnormalities could potentially be used as an early and effective indicator of ASD risk.

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11. Tian H, Jiao Y, Guo M, Wang Y, Wang R, Wang C, Chen X, Tian W. Krüppel-like factor 7 deficiency causes autistic-like behavior in mice via regulating Clock gene. Cell Biosci;2022 (Oct 7);12(1):166.

BACKGROUND: Krüppel-like factor 7 (klf7), a transcription factor in the nervous system to regulate cell proliferation and differentiation, has been recently identified as a causal gene for autism spectrum disorder (ASD), but the mechanism behind remains unknown. RESULT: To uncover this mechanism, in this study we characterized the involvement of klf7 in circadian rhythm by knocking down klf7 in N2A cells and examining the rhythmic expression of circadian genes, especially Clock gene. We constructed klf7(-/-) mice and then investigated into klf7 regulation on the expression of rhythm genes in vivo as well as the use of melatonin to rescue the autism behavior. Our results illustrated that circadian rhythm was disrupted in klf7 knockdown cells and that klf7(-/-) mice showed autism-like behavior. Also, we found that Clock gene was downregulated in the brain of these klf7(-/-) mice and that the downstream rhythm genes of Clock were disturbed. Melatonin, as a circadian regulation drug, could regulate the expression level and amplitude of rhythm genes in klf7 knockout cells and further rescue the autistic behavior of klf7(-/-) mice. CONCLUSION: Klf7 deficiency causes ASD by disrupting circadian rhythm related genes to trigger rhythm oscillations. To treat ASD, maintaining circadian homeostasis is promising with the use of melatonin.

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12. Visser TAW, English MCW, Maybery MT. No evidence for superior distractor filtering amongst individuals high in autistic-like traits. Atten Percept Psychophys;2022 (Oct 7)

Autistic individuals and individuals with high levels of autistic-like traits often show better visual search performance than their neurotypical peers. The present work investigates whether this advantage stems from increased ability to filter out distractors. Participants with high or low levels of autistic-like traits completed an attentional blink task in which trials varied in target-distractor similarity. The results showed no evidence that high levels of autistic-like traits were associated with superior distractor filtering (indexed by the difference in the size of the attentional blink across the high- and low-similarity distractors). This suggests that search advantages seen in previous studies are likely linked to other mechanisms such as enhanced pre-attentive scene processing, better decision making, or more efficient response selection.

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13. Wong PW, Lam YY, Lau JS, Fok HK. Adapting and pretesting the World Health Organization’s Caregiver Skills Training Program for children with autism and developmental disorders or delays in Hong Kong. Sci Rep;2022 (Oct 8);12(1):16932.

The World Health Organization Caregiver Skills Training Program (WHO-CST) was developed to strengthen caregivers’ skills in supporting children with developmental delays and the caregivers’ well-being. The WHO-CST Hong Kong (HK) was adapted, and pre-pilot tested to support families with children suspected of having developmental delays and autism spectrum disorder and to empower the caregivers to foster their children’s learning, social communication, and adaptive behavior. A sequential mixed-methods research methodology was undertaken to examine the adaptation process and initial implementation experiences. The acceptability, feasibility, and perceived benefits of the WHO-CST were assessed using stakeholders’ and caregivers’ qualitative and caregivers’ quantitative pre- and post-intervention feedback. The data included materials generated from (1) three consultation meetings with stakeholders; (2) detailed reviews of the translated and adapted WHO-CST materials by master trainees (n = 10) trained by the WHO-CST representatives; (3) needs assessment focus group interviews with caregivers (n = 15) of children with autism spectrum disorder; and (4) pre- and post-CST program qualitative focus group interviews and quantitative evaluation. Consultation with stakeholders suggested that the program was acceptable for the local community, but the home visit and fidelity components were initially considered to be challenges towards the feasibility and sustainability of the program. Caregivers in the needs assessment focus groups gave widely diverse views about the program’s uniqueness, length, delivery mode, and the inclusion of videotaping in-home visits. Post-intervention comments by caregivers about the program were mainly positive, while the MTs were critical of the content and length of the training and fidelity process. As one of the first high-income locations to adopt the WHO-CST, the evaluation findings of the WHO-CST-HK indicate that it is feasible and acceptable to implement the program in a metropolitan area where families have busy work schedules and are very conscious of privacy issues. The study results suggest that the WHO-CST program in HK and other high-income countries require scaling up and further evaluation of its implementation in real community settings. This involves systemic and contextual changes to allow task-sharing between professionals and non-specialists at the macro level. Furthermore, technology should be used to support the supervision of non-specialists. In addition, easier access to the WHO-CST materials at the micro level is required to ensure equity, equality, diversity, and inclusion of diversified families of children with developmental delays.

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14. Zhang X, Shu S, Zhu Z, Gu Q, Liu Z, Qiu Y, Bao H. Proximal junctional kyphosis is a compensation for post-operative negative C2-FH in ASD patients: a cross-sectional study. J Orthop Surg Res;2022 (Oct 7);17(1):442.

BACKGROUND: Recent studies have found that C2-FH is close to 0 cm in both standing and sitting position for asymptomatic adults. We hypothesize that the thoracic spine may compensate with PJK when the immediate post-operative C2-FH was not ideally restored in adult spinal deformity (ASD). METHODS: The inclusion criteria were as follows: ASD patients over 45 years old; Cobb angle > 30°; with posterior spinal correction surgery; at least 2 years follow-up. C2-FH was defined as the distance between the femoral heads to the C2 vertical line. All participants were divided into two groups according to the occurrence of PJK at the last follow-up: PJK group and non-PJK group. RESULTS: 68 ASD patients, with a minimum follow-up of 2.5 years, were included. PJK was found in 24 patients (35.3%) while the rest 44 patients remained no sagittal malalignment. Immediately post-operative C2-FH showed significant difference between PJK group and non-PJK group (p = 0.015). However, at the last follow-up, C2-FH showed no significant difference between PJK and non-PJK group and the mean value of C2-FH in both groups was approximately - 1 cm, indicating that ASD patients could develop various compensatory mechanisms to maintain sagittal global balance. The AUC was 0.84 (95%CI 0.68-0.97), indicating the well effectiveness of ROC curve and cut-off value in predicting occurrence of PJK in ASD patients. Based on the ROC curve, the optimal cut-off value of C2-FH as indicators for occurrence of PJK was - 42.3 mm. CONCLUSION: Immediate postoperative negative global malalignment (C2-FH < - 42.3 mm) may predict proximal junctional kyphosis in ASD patients. The normal value of C2-FH, - 1 cm, may be the target of global sagittal compensation, and PJK is a compensatory mechanism. TRIAL REGISTRATION: 2021-LCYJ-DBZ-05, 2021.07, Retrospective study.

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15. Zhang XY, Spruyt K. A meta-review of standard polysomnography parameters in Rett Syndrome. Front Neurol;2022;13:963626.

Rett Syndrome (RTT, OMIM 312750), a unique rare neurodevelopmental disorder, mostly affects females and causes severe multi-disabilities including poor sleep. This meta-analysis systematically reviewed the polysomnographic (PSG) data of individuals with RTT on both sleep macrostructure and sleep respiratory indexes and compared them to literature normative values. Studies were collected from PubMed, Web of Science, PsycINFO, Ebsco, Scopus, and Cochrane Library till 26 April 2022. Across 13 included studies, the 134 selected RTT cases were mostly females being MECP2 (n = 41) and CDKL5 (n = 4) positive. They were further stratified by gene, age, and clinical features. Findings of comparison with literature normative values suggested shorter total sleep time (TST) and sleep onset latency (SOL), twice as long wake after sleep onset (WASO) with lower sleep efficiency (SEI) in RTT, as well as increased non-rapid eye movement stage 3 (stage N3) and decreased rapid eye movement sleep. Based on limited data per stratifications, we found in RTT cases <5 years old lower stage N3, and in RTT cases >5 years old less WASO and more WASO in the epileptic strata. However, meta-results generated from studies designed with comparison groups only showed lower stage N1 in RTT than in healthy comparison, together with similar SEI and stage N3 to primary snoring subjects. For sleep respiratory indexes, severe disordered sleep breathing was confirmed across roughly all RTT strata. We are the first study to meta-analyze PSG data of subjects with RTT, illustrating shorter TST and aberrant sleep staging in RTT that may vary with age or the presence of epilepsy. Severe nocturnal hypoxemia with apneic events was also demonstrated. More studies are needed to explore and elucidate the pathophysiological mechanisms of these sleep findings in the future. SYSTEMATIC REVIEW REGISTRATION: https://www.crd.york.ac.uk/prospero/display_record.php?RecordID=198099, identifier: CRD 42020198099.

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