1. Bourke EM, Say DF, Carison A, Hill A, Craig S, Hiscock H, Babl FE, O’Donnell SM. Emergency mental health presentations in children with autism spectrum disorder and attention deficit hyperactivity disorder. Journal of paediatrics and child health. 2021; 57(10): 1572-9.

AIM: To characterise the key features and management of young people presenting to the emergency department (ED) with a mental health (MH) complaint and a known diagnosis of autism spectrum disorder (ASD) or attention deficit hyperactivity disorder (ADHD). METHODS: Retrospective review of all ED MH presentations in children aged 7-17 years, presenting over a 12-month period from the 1st of January 2018 to the 31st of December 2018, to the Royal Children’s Hospital in Melbourne, Australia. Univariate analyses were carried out to examine the relationship between an underlying diagnosis of ASD and/or ADHD and a number of key presentation variables. Relative risks (RRs) and 95% confidence intervals (CIs) were calculated for ED management outcomes. RESULTS: There were 374 presentations in this cohort, representing 28% of the total MH presentations in 2018. The most common reason for presentation was acute severe behavioural disturbance. Young people with ASD and ADHD were at increased risk of having an acute crisis team response activated (ASD RR 2.3, CI 1.6-3.3, ADHD RR 2.2, CI 1.2-4.1). Compared to those without either diagnosis, young people with ASD were more likely to be physically restrained (RR 2.8, CI 1.7-4.6), managed in seclusion (RR 3.3, CI 1.7-6.4) and to receive medication to assist with behavioural de-escalation (RR 2.8, CI 1.6-4.9). CONCLUSIONS: Children with ASD and/or ADHD represent one-quarter of all children presenting to the ED with MH complaints. They experience high rates of acute severe behavioural disturbance. Future research is needed to co-design, implement and evaluate better approaches for their management.

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2. Chen MH, Huang KL, Hsu JW, Tsai SJ, Su TP, Chen TJ, Bai YM. Effect of relative age on diagnosis of autism spectrum disorder in children: a nationwide study in Taiwan. European child & adolescent psychiatry. 2021.

BACKGROUND: The annual cut-off birthdate for entry into school in Taiwan is August 31. Thus, children and adolescents born in August are typically the youngest in their grades. The potential effect of relative age on the diagnosis of autism spectrum disorder (ASD) remains uncertain. METHODS: A total of 9,548,393 individuals aged 3-17 years during the study period (from September 1, 2001, to August 31, 2011) identified from the Taiwan National Health Insurance Research Database were enrolled into our study. Logistic regression analysis was used to examine the likelihood of receiving ASD diagnosis for those who were born in August (the youngest) compared with those who were born in September (the oldest). RESULTS: Both boys and girls born in August had a higher likelihood of being diagnosed with ASD (odds ratio [OR]: 1.24, 95% confidence interval [CI]: 1.16-1.32; OR: 1.23, 95% CI 1.06-1.42) than did those born in September. Sensitivity analysis conducted over different periods revealed consistent findings. DISCUSSION: Relative age, as an indicator of neurocognitive maturity, is a crucial contributor to the risk of being diagnosed with ASD among children and adolescents. Our findings highlight the importance of considering the age of a child within a grade when diagnosing ASD.

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3. Cunningham A, McPolin O, Fallis R, Coyle C, Best P, McKenna G. A systematic review of the use of virtual reality or dental smartphone applications as interventions for management of paediatric dental anxiety. BMC oral health. 2021; 21(1): 244.

BACKGROUND: Virtual reality (VR) has been used successfully in medicine both as a distraction tool during procedures, and as an acclimatisation tool to prepare for a procedure or experience. It has not yet become widely used in dentistry, but could theoretically have a role in exposure-based acclimatisation for dental experiences. METHODS: To examine the use of VR or bespoke dental smartphone applications pre- or perioperatively in dentistry, to decrease anxiety in a paediatric population attending for dental examination or treatment, compared with children/adolescents who receive no intervention, or more conventional behavioural management techniques. Searches were made of eight electronic databases: the Cochrane Oral Health Group’s Trials Register, The Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE(PubMed), EMBASE, PsycINFO, CINAHL, Scopus and Web of Science. Further searches reference cross-checks were performed to identify studies that were not discovered online. RESULTS: Systematic reviews and randomised control trials have demonstrated the successful use of VR to both distract patients perioperatively during medical procedures, and also preoperatively to prepare them for these interventions. However, to date, VR has only been applied to dentistry in a very limited number of studies. Three studies using virtual reality in a dental setting demonstrated decreased pain and anxiety compared with no intervention. All three of these studies were carried out in the perioperative period. A fourth study used a bespoke dental app and imagery to prepare patients with Autism Spectrum Disorder (ASD) for dental treatment, finding statistically significant decreases in both the number of appointments and number of attempts required to carry out a procedure. CONCLUSION: VR is a promising tool which to date has been under-utilised in dentistry. High quality, clinical studies are required to assess the use of preoperative VR and smartphone applications to prepare patients for dental examination and procedures under local or general anaesthetic.

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4. Dubreucq J, Haesebaert F, Plasse J, Dubreucq M, Franck N. A Systematic Review and Meta-analysis of Social Skills Training for Adults with Autism Spectrum Disorder. Journal of autism and developmental disorders. 2022; 52(4): 1598-609.

This systematic review and meta-analysis is the first to evaluate the effects of group-based social skills training (SST) on parent-report social responsiveness in adults with autism spectrum disorder (ASD). A total of 18 studies were included in the narrative review and among them five randomized-controlled trials (n = 145) were included in the meta-analysis. SST had large positive effects on social responsiveness. The narrative review identified that SST could improve patient’s outcomes in adults with ASD. These results should be interpreted with caution due to the moderate quality of the existing evidence, which could have inflated effect sizes. The absence of active comparator control groups makes unclear whether improvements at post-treatment are treatment-specific or are attributable to common factors to all psychotherapies.

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5. Heffer N, Karl A, Jicol C, Ashwin C, Petrini K. Anxiety biases audiovisual processing of social signals. Behavioural brain research. 2021; 410: 113346.

In everyday life, information from multiple senses is integrated for a holistic understanding of emotion. Despite evidence of atypical multisensory perception in populations with socio-emotional difficulties (e.g., autistic individuals), little research to date has examined how anxiety impacts on multisensory emotion perception. Here we examined whether the level of trait anxiety in a sample of 56 healthy adults affected audiovisual processing of emotion for three types of stimuli: dynamic faces and voices, body motion and dialogues of two interacting agents, and circles and tones. Participants judged emotion from four types of displays – audio-only, visual-only, audiovisual congruent (e.g., angry face and angry voice) and audiovisual incongruent (e.g., angry face and happy voice) – as happy or angry, as quickly as possible. In one task, participants based their emotional judgements on information in one modality while ignoring information in the other, and in a second task they based their judgements on their overall impressions of the stimuli. The results showed that the higher trait anxiety group prioritized the processing of angry cues when combining faces and voices that portrayed conflicting emotions. Individuals in this group were also more likely to benefit from combining congruent face and voice cues when recognizing anger. The multisensory effects of anxiety were found to be independent of the effects of autistic traits. The observed effects of trait anxiety on multisensory processing of emotion may serve to maintain anxiety by increasing sensitivity to social-threat and thus contributing to interpersonal difficulties.

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6. Iovino EA, Caemmerer J, Chafouleas SM. Psychological distress and burden among family caregivers of children with and without developmental disabilities six months into the COVID-19 pandemic. Research in developmental disabilities. 2021; 114: 103983.

The COVID-19 pandemic has created unique challenges for family caregivers of children with developmental disabilities (DD). The purpose of this study was to conduct a 6-month follow-up on the experiences of caregiver burden and psychological distress among caregivers of children with autism (ASD) and/or attention deficit hyperactivity disorder (ADHD) during COVID-19 pandemic, compare their experiences to caregivers of children without DD, and test the interaction between opportunities for self-care and caregiver burden and psychological distress. Results indicated caregivers of children with ASD/ADHD continued to report significantly higher levels of psychological distress and caregiver burden compared to caregivers of children without DD. Counter to study hypotheses decreased opportunities to engage in self-care as a result of the pandemic predicted higher levels of psychological distress and caregiver burden for caregivers of children without DD, whereas only caregiver burden was moderated by self-care for caregivers of children with ASD/ADHD. Overall, the COVID-19 pandemic is continuing to negatively impact the psychological health of family caregivers of school-age children. In general, greater challenges are presented for caregivers of children with ASD/ADHD, but they seem to be more resilient to some COVID-19 challenges than caregivers of children without DD.

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7. Kour S, Rajan DS, Fortuna TR, Anderson EN, Ward C, Lee Y, Lee S, Shin YB, Chae JH, Choi M, Siquier K, Cantagrel V, Amiel J, Stolerman ES, Barnett SS, Cousin MA, Castro D, McDonald K, Kirmse B, Nemeth AH, Rajasundaram D, Innes AM, Lynch D, Frosk P, Collins A, Gibbons M, Yang M, Desguerre I, Boddaert N, Gitiaux C, Rydning SL, Selmer KK, Urreizti R, Garcia-Oguiza A, Osorio AN, Verdura E, Pujol A, McCurry HR, Landers JE, Agnihotri S, Andriescu EC, Moody SB, Phornphutkul C, Sacoto MJG, Begtrup A, Houlden H, Kirschner J, Schorling D, Rudnik-Schöneborn S, Strom TM, Leiz S, Juliette K, Richardson R, Yang Y, Zhang Y, Wang M, Wang J, Wang X, Platzer K, Donkervoort S, Bönnemann CG, Wagner M, Issa MY, Elbendary HM, Stanley V, Maroofian R, Gleeson JG, Zaki MS, Senderek J, Pandey UB. Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. Nature communications. 2021; 12(1): 2558.

GEMIN5, an RNA-binding protein is essential for assembly of the survival motor neuron (SMN) protein complex and facilitates the formation of small nuclear ribonucleoproteins (snRNPs), the building blocks of spliceosomes. Here, we have identified 30 affected individuals from 22 unrelated families presenting with developmental delay, hypotonia, and cerebellar ataxia harboring biallelic variants in the GEMIN5 gene. Mutations in GEMIN5 perturb the subcellular distribution, stability, and expression of GEMIN5 protein and its interacting partners in patient iPSC-derived neurons, suggesting a potential loss-of-function mechanism. GEMIN5 mutations result in disruption of snRNP complex assembly formation in patient iPSC neurons. Furthermore, knock down of rigor mortis, the fly homolog of human GEMIN5, leads to developmental defects, motor dysfunction, and a reduced lifespan. Interestingly, we observed that GEMIN5 variants disrupt a distinct set of transcripts and pathways as compared to SMA patient neurons, suggesting different molecular pathomechanisms. These findings collectively provide evidence that pathogenic variants in GEMIN5 perturb physiological functions and result in a neurodevelopmental delay and ataxia syndrome.

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8. Pobric G, Taylor JR, Ramalingam HM, Pye E, Robinson L, Vassallo G, Jung J, Bhandary M, Szumanska-Ryt K, Theodosiou L, Evans DG, Eelloo J, Burkitt-Wright E, Hulleman J, Green J, Garg S. Cognitive and Electrophysiological Correlates of Working Memory Impairments in Neurofibromatosis Type 1. Journal of autism and developmental disorders. 2022; 52(4): 1478-94.

Neurofibromatosis 1 (NF1) is a single gene disorder associated with working Memory (WM) impairments. The aim of this study was to investigate P300 event-related potential (ERP) associated with WM in NF1. Sixteen adolescents with NF1 were compared with controls on measures of WM and EEG was recorded during a WM nback task. The NF1 group showed poorer performance on measures of WM as compared to the control group. No group differences were observed in P300 amplitude at Pz, but P300 latency was shorter in the NF1 group. Topographic analyses of P300 amplitude showed group differences indicating neural processing differences in the NF1 group relative to controls, which possibly contribute to the cognitive deficits seen in this population.

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9. Spoor JR, Bury SM, Hedley D. Non-autistic employees’ perspectives on the implementation of an autism employment programme. Autism : the international journal of research and practice. 2021; 25(8): 2177-88.

We asked 32 employees who work alongside autistic trainees for their thoughts about the autism employment programme that is running in their company. Specifically, we analysed their responses to understand how the employees perceived the autism employment programme’s implementation and outcomes. How employees within an organisation view diversity, and the nature of specific programmes to increase the inclusion of certain groups of individuals (e.g. autistic employees) in their organisation, can impact the success of these programmes. Research in other organisations has suggested that diversity perspectives that fully support the inclusion of people with diverse backgrounds in the organisation lead to better outcomes. Thematic analysis of the responses in this study revealed that the views of the employees fit three main themes: programme benefits, programme challenges and concerns about workforce integration. The programme benefits theme suggested that the autism employment programme was viewed positively. However, negative attitudes and perceptions of special treatment contributed to programme challenges, which were similar to challenges that have been observed with other disability and diversity programmes. The design of this specific programme led to concerns about workforce integration, such as reduced opportunity for social and work integration into the broader workplace. This research extends the research on diversity management in the context of autism employment, and it provides practical understanding into ways in which organisational-based autism employment programmes are more and less successful.

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10. Sun X, Wang L, Wei C, Sun M, Li Q, Meng H, Yue W, Zhang D, Li J. Dysfunction of Trio GEF1 involves in excitatory/inhibitory imbalance and autism-like behaviors through regulation of interneuron migration. Molecular psychiatry. 2021; 26(12): 7621-40.

Autism spectrum disorders (ASDs) are a group of highly inheritable neurodevelopmental disorders. Functional mutations in TRIO, especially in the GEF1 domain, are strongly implicated in ASDs, whereas the underlying neurobiological pathogenesis and molecular mechanisms remain to be clarified. Here we characterize the abnormal morphology and behavior of embryonic migratory interneurons (INs) upon Trio deficiency or GEF1 mutation in mice, which are mediated by the Trio GEF1-Rac1 activation and involved in SDF1α/CXCR4 signaling. In addition, the migration deficits are specifically associated with altered neural microcircuit, decreased inhibitory neurotransmission, and autism-like behaviors, which are reminiscent of some features observed in patients with ASDs. Furthermore, restoring the excitatory/inhibitory (E/I) imbalance via activation of GABA signaling rescues autism-like deficits. Our findings demonstrate a critical role of Trio GEF1 mediated signaling in IN migration and E/I balance, which are related to autism-related behavioral phenotypes.

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11. Wetherby AM, Guthrie W, Hooker JL, Delehanty A, Day TN, Woods J, Pierce K, Manwaring SS, Thurm A, Ozonoff S, Petkova E, Lord C. The Early Screening for Autism and Communication Disorders: Field-testing an autism-specific screening tool for children 12 to 36 months of age. Autism : the international journal of research and practice. 2021; 25(7): 2112-23.

There is a critical need for accurate screening tools for autism spectrum disorder in very young children so families can access tailored intervention services as early as possible. However, there are few screeners designed for children 18-24 months. Developing screeners that pick up on the signs of autism spectrum disorder in very young children has proved even more challenging. In this study, we examined a new autism-specific parent-report screening tool, the Early Screening for Autism and Communication Disorders for children between 12 and 36 months of age. Field-testing was done in five sites with 471 children screened for communication delays in primary care or referred for familial risk or concern for autism spectrum disorder. The Early Screening for Autism and Communication Disorders was tested in three age groups: 12-17, 18-23, and 24-36 months. A best-estimate diagnosis of autism spectrum disorder, developmental delay, or typical development was made. Analyses examined all 46 items and identified 30 items that best discriminated autism spectrum disorder from the non-spectrum groups. Cutoffs were established for each age group with good sensitivity and specificity. Results provide preliminary support for the accuracy of the Early Screening for Autism and Communication Disorders as an autism-specific screener in children 12-36 months with elevated risk of communication delay or autism spectrum disorder.

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12. Yadollahikhales G, Blenkush N, Cunningham M. Response patterns for individuals receiving contingent skin shock aversion intervention to treat violent self-injurious and assaultive behaviours. BMJ case reports. 2021; 14(5).

A small proportion of patients with intellectual disabilities (IDs) and/or autism spectrum disorder (ASD) exhibit extraordinarily dangerous self-injurious and assaultive behaviours that persist despite long-term multidisciplinary interventions. These uncontrolled behaviours result in physical and emotional trauma to the patients, care providers and family members. A graduated electronic decelerator (GED) is an aversive therapy device that has been shown to reduce the frequency of severe problem behaviours by 97%. Within a cohort of 173 patients, we have identified the four most common patterns of response: (1) on removal of GED, behaviours immediately return, and GED is reinstated; (2) GED is removed for periods of time (faded) and reinstated if and when behaviours return; (3) a low frequency of GED applications maintains very low rates of problem behaviours; and (4) GED is removed permanently after cessation of problem behaviours. GED is intended as a therapeutic option only for violent, treatment-resistant patients with ID and ASD.

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