1. Aithal S, Karkou V, Makris S, Karaminis T, Powell J. Impact of Dance Movement Psychotherapy on the wellbeing of caregivers of children with Autism Spectrum Disorder. Public health. 2021; 200: 109-15.

OBJECTIVES: Sustaining the wellbeing of caregivers of children with Autism Spectrum Disorder (ASD) can be highly demanding. This study explored the impact of Dance Movement Psychotherapy (DMP) intervention on the wellbeing of caregivers in comparison with their standard care routine. STUDY DESIGN: This pilot evaluation study used a quasi-experimental design. METHODS: Thirty-seven caregivers of children with ASD were recruited from two special educational needs settings and were allocated to the DMP intervention or the control group depending on their availability to attend the sessions. The participants in the intervention group received five DMP sessions lasting 90 min each. Adult Wellbeing Scale (AWS) and Parenting Stress Index-Short Form (PSI-SF) were the two outcome measures administered before and after DMP to measure the impact of DMP intervention on caregivers’ wellbeing and parental stress. RESULTS: The retention rates were poor, with only 50% of participants in the DMP intervention arm attending at least 70% of the sessions until its end. The Minimal Clinically Important Difference (MCID) was achieved for a small effect size in both outcome measures in the DMP intervention group but not in the control group. Results from the Analyses of Covariance (ANCOVAs) showed a significant difference in post-intervention scores between the DMP intervention and the control group for AWS (F(1,33) = 106.474, P < 0.001) but not for PSI-SF. In addition, a significant association was found between pre-intervention scores and the number of sessions attended with the postintervention scores of both AWS and PSI-SF. CONCLUSIONS: The results of this pilot DMP study are promising. However, before running a larger randomised controlled trial, strategies to support caregivers to attend the intervention need to be considered carefully.

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2. Bednarz HM, Stavrinos D, Svancara AM, Sherrod GM, McManus B, Deshpande HD, Kana RK. Executive Function Brain Network Activation Predicts Driving Hazard Detection in ADHD. Brain topography. 2022; 35(2): 251-67.

Drivers with neurodevelopmental disorders (NDDs), such as autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are at increased risk of experiencing driving difficulties. An important aspect of driving safety and skill involves hazard detection. This functional magnetic resonance imaging study examined the neural responses associated with driving hazard detection in drivers with ASD, ADHD, and typically developing (TD) drivers. Forty participants (12 ASD, 15 ADHD, 13 TD) ages 16-30 years completed a driving simulator task in which they encountered social and nonsocial hazards; reaction time (RT) for responding to hazards was measured. Participants then completed a similar hazard detection task in the MRI scanner so that neural response to hazards could be measured. Activation of regions of interest considered part of the executive function (EF) and theory of mind (ToM) networks were examined and related to driving simulator behavior. Results showed that stronger activation of the EF network during social hazard processing, including the bilateral dorsolateral prefrontal cortex and posterior parietal cortex, was associated with faster RT to social hazards among drivers with ADHD, but not among drivers with ASD. This provides the first evidence of a relationship between EF network brain activation and driving skills in ADHD and suggests that alterations in this network may underlie driving behavior. In comparison, the current study did not observe a relationship between ToM network activation and RT to social hazards in any group. This study lays the groundwork for relating neural activation to driving behavior among individuals with NDDs.

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3. Bellato A, Arora I, Kochhar P, Ropar D, Hollis C, Groom MJ. Heart Rate Variability in Children and Adolescents with Autism, ADHD and Co-occurring Autism and ADHD, During Passive and Active Experimental Conditions. Journal of autism and developmental disorders. 2021.

Despite overlaps in clinical symptomatology, autism and ADHD may be associated with opposite autonomic arousal profiles which might partly explain altered cognitive and global functioning. We investigated autonomic arousal in 106 children/adolescents with autism, ADHD, co-occurring autism/ADHD, and neurotypical controls. Heart rate variability was recorded during resting-state, a ‘passive’ auditory oddball task and an ‘active’ response conflict task. Autistic children showed hyper-arousal during the active task, while those with ADHD showed hypo-arousal during resting-state and the passive task. Irrespective of diagnosis, children characterised by hyper-arousal showed more severe autistic symptomatology, increased anxiety and reduced global functioning than those displaying hypo-arousal, suggesting the importance of considering individual autonomic arousal profiles for differential diagnosis of autism/ADHD and when developing personalised interventions.

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4. Kato H, Kushima I, Yoshimi A, Ishizuka K, Kimura H, Aleksic B, Takahashi N, Okada T, Ozaki N. Autism spectrum disorder comorbid with obsessive compulsive disorder and eating disorder in a woman with NBEA deletion. Psychiatry and clinical neurosciences. 2022; 76(1): 36-8.

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5. Lepping RJ, McKinney WS, Magnon GC, Keedy SK, Wang Z, Coombes SA, Vaillancourt DE, Sweeney JA, Mosconi MW. Visuomotor brain network activation and functional connectivity among individuals with autism spectrum disorder. Human brain mapping. 2022; 43(2): 844-59.

Sensorimotor abnormalities are common in autism spectrum disorder (ASD) and predictive of functional outcomes, though their neural underpinnings remain poorly understood. Using functional magnetic resonance imaging, we examined both brain activation and functional connectivity during visuomotor behavior in 27 individuals with ASD and 30 typically developing (TD) controls (ages 9-35 years). Participants maintained a constant grip force while receiving visual feedback at three different visual gain levels. Relative to controls, ASD participants showed increased force variability, especially at high gain, and reduced entropy. Brain activation was greater in individuals with ASD than controls in supplementary motor area, bilateral superior parietal lobules, and contralateral middle frontal gyrus at high gain. During motor action, functional connectivity was reduced between parietal-premotor and parietal-putamen in individuals with ASD compared to controls. Individuals with ASD also showed greater age-associated increases in functional connectivity between cerebellum and visual, motor, and prefrontal cortical areas relative to controls. These results indicate that visuomotor deficits in ASD are associated with atypical activation and functional connectivity of posterior parietal, premotor, and striatal circuits involved in translating sensory feedback information into precision motor behaviors, and that functional connectivity of cerebellar-cortical sensorimotor and nonsensorimotor networks show delayed maturation.

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6. Mierzewska H, Laure-Kamionowska M, Jezela-Stanek A, Rydzanicz M, Płoski R, Szczepanik E. The neuropathological findings of developmental and epileptic encephalopathy-43 (DEE43) and delineation of a the molecular spectrum of novel case. Seizure. 2021; 93: 75-80.

Developmental and epileptic encephalopathies (DEE) constitute an expanding group of severely disabling and, most frequently, drug-resistant disorders starting in the first year of life. Among them, there is DEE43, caused by dominant mutations in the GABRB3 gene. We present first neuropathological findings in a novel, molecularly confirmed case with the fatal course. The neuropathological analysis revealed co-existing developmental anomalies and retardation of myelination resulting from disturbed early brain growth as well as lesions caused by epileptic hypoxic-ischemic episodes. Developmental anomalies included misplaced neurons in the cerebellar white matter, heterotopic neurons in the cortical molecular layer and in the molecular layer of the hippocampal dentate gyrus, dysmorphic cerebellar dentate nuclei and inferior olivary nuclei in the medulla oblongata. The migrational and maturational disorders leading to the neuronal network dysfunction could be the cause of both the lack of development and the ineffectiveness of antiepileptic treatment in children affected by DEE. Giving the presented neuropathological description and based on the literature, we discuss the pathomechanism of the disease, to improve current understanding of both the lack of development and the ineffectiveness of treatment of affected children.

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7. Thurm A, Halladay A, Mandell D, Maye M, Ethridge S, Farmer C. Making Research Possible: Barriers and Solutions For Those With ASD and ID. Journal of autism and developmental disorders. 2021.

Participation in research can provide direct and indirect benefit to individuals with autism spectrum disorder (ASD), their caregivers, families, and society at large. Unfortunately, individuals with high support needs, including those with intellectual disability, cognitive disability or minimal verbal ability, are often systematically excluded from research on ASD. This limits the ability to generalize discoveries to all people with ASD, and results in a disparity in who benefits from research. This piece outlines the importance and extent of the problem, which is part of a broader lack of inclusivity in ASD research. It also provides examples of studies that have directly addressed issues that arise when conducting inclusive research and makes recommendations for researchers to reduce disparities in research participation.

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8. Vysotskiy M, Zhong X, Miller-Fleming TW, Zhou D, Cox NJ, Weiss LA. Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes. Genome medicine. 2021; 13(1): 172.

BACKGROUND: Deletions and duplications of the multigenic 16p11.2 and 22q11.2 copy number variant (CNV) regions are associated with brain-related disorders including schizophrenia, intellectual disability, obesity, bipolar disorder, and autism spectrum disorder (ASD). The contribution of individual CNV genes to each of these identified phenotypes is unknown, as well as the contribution of these CNV genes to other potentially subtler health implications for carriers. Hypothesizing that DNA copy number exerts most effects via impacts on RNA expression, we attempted a novel in silico fine-mapping approach in non-CNV carriers using both GWAS and biobank data. METHODS: We first asked whether gene expression level in any individual gene in the CNV region alters risk for a known CNV-associated behavioral phenotype(s). Using transcriptomic imputation, we performed association testing for CNV genes within large genotyped cohorts for schizophrenia, IQ, BMI, bipolar disorder, and ASD. Second, we used a biobank containing electronic health data to compare the medical phenome of CNV carriers to controls within 700,000 individuals in order to investigate the full spectrum of health effects of the CNVs. Third, we used genotypes for over 48,000 individuals within the biobank to perform phenome-wide association studies between imputed expressions of individual 16p11.2 and 22q11.2 genes and over 1500 health traits. RESULTS: Using large genotyped cohorts, we found individual genes within 16p11.2 associated with schizophrenia (TMEM219, INO80E, YPEL3), BMI (TMEM219, SPN, TAOK2, INO80E), and IQ (SPN), using conditional analysis to identify upregulation of INO80E as the driver of schizophrenia, and downregulation of SPN and INO80E as increasing BMI. We identified both novel and previously observed over-represented traits within the electronic health records of 16p11.2 and 22q11.2 CNV carriers. In the phenome-wide association study, we found seventeen significant gene-trait pairs, including psychosis (NPIPB11, SLX1B) and mood disorders (SCARF2), and overall enrichment of mental traits. CONCLUSIONS: Our results demonstrate how integration of genetic and clinical data aids in understanding CNV gene function and implicates pleiotropy and multigenicity in CNV biology.

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