1. Barnard-Brak L, Watkins L, Richman DM. Examining the Relation between Self-reported ASD Symptoms and Sensory Sensitivities from a Community-based Sample of Adults. Developmental neurorehabilitation. 2021; 24(6): 388-96.

Atypical responses to sensory stimuli, termed sensory sensitivities, are a commonly reported symptom for individuals diagnosed with Autism Spectrum Disorder (ASD). In this community-based study of 604 adults, the correlation between sensory sensitivities and ASD symptoms was r = 0.23, p < .001, representing a smaller relation than estimates previously reported in the peer-reviewed research. Additionally, when examining only participants who met or exceeded the ASD screening cutoff score, the relation between sensory sensitivities and ASD symptoms was only slightly larger at r = 0.25, p < .001. Forty-four percentage who met the screening cutoff score for ASD also reported the lowest degree of sensory sensitivities. Finally, just over one-third who met the screening cutoff score for ASD had the highest sensory sensitivities. Sensory sensitivities did not appear to be a consistent feature across adults meeting the ASD screening cutoff score, but a proportion meeting the ASD screening cutoff score also exhibited the most extreme sensory sensitivities.

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2. Díaz-Caneja CM, State MW, Hagerman RJ, Jacquemont S, Marín O, Bagni C, Umbricht D, Simonoff E, de Andrés-Trelles F, Kaale A, Pandina G, Gómez-Mancilla B, Wang PP, Cusak J, Siafis S, Leucht S, Parellada M, Loth E, Charman T, Buitelaar JK, Murphy D, Arango C. A white paper on a neurodevelopmental framework for drug discovery in autism and other neurodevelopmental disorders. European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology. 2021; 48: 49-88.

In the last decade there has been a revolution in terms of genetic findings in neurodevelopmental disorders (NDDs), with many discoveries critical for understanding their aetiology and pathophysiology. Clinical trials in single-gene disorders such as fragile X syndrome highlight the challenges of investigating new drug targets in NDDs. Incorporating a developmental perspective into the process of drug development for NDDs could help to overcome some of the current difficulties in identifying and testing new treatments. This paper provides a summary of the proceedings of the ‘New Frontiers Meeting’ on neurodevelopmental disorders organised by the European College of Neuropsychopharmacology in conjunction with the Innovative Medicines Initiative-sponsored AIMS-2-TRIALS consortium. It brought together experts in developmental genetics, autism, NDDs, and clinical trials from academia and industry, regulators, patient and family associations, and other stakeholders. The meeting sought to provide a platform for focused communication on scientific insights, challenges, and methodologies that might be applicable to the development of CNS treatments from a neurodevelopmental perspective. Multidisciplinary translational consortia to develop basic and clinical research in parallel could be pivotal to advance knowledge in the field. Although implementation of clinical trials for NDDs in paediatric populations is widely acknowledged as essential, safety concerns should guide each aspect of their design. Industry and academia should join forces to improve knowledge of the biology of brain development, identify the optimal timing of interventions, and translate these findings into new drugs, allowing for the needs of users and families, with support from regulatory agencies.

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3. Dwyer P, De Meo-Monteil R, Saron CD, Rivera SM. Effects of age on loudness-dependent auditory ERPs in young autistic and typically-developing children. Neuropsychologia. 2021; 156: 107837.

Limited research has investigated the development of auditory ERPs in young children, and particularly how stimulus intensity may affect these auditory ERPs. Previous research has also yielded inconsistent findings regarding differences in the development of auditory ERPs in autism and typical development. Furthermore, stimulus intensity may be of particular interest in autism insofar as autistic people may have atypical experiences of sound intensity (e.g., hyperacusis). Therefore, the present study examined associations between age and ERPs evoked by tones of differing intensities (50, 60, 70, and 80 dB SPL) in a large sample of young children (2-5 years) with and without an autism diagnosis. Correlations between age and P1 latencies were examined, while cluster-based permutation testing was used to examine associations between age and neural response amplitudes, as well as group differences in amplitude, over all electrode sites in the longer time window of 1-350 ms. Older autistic participants had faster P1 latencies, but these effects only attained significance over the right hemisphere in response to soft 50 dB sounds. Autistic participants had slower P1 responses to 80 dB sounds over the right hemisphere. Over the scalp regions associated with the later N2 response, more negative response amplitudes (that is, larger N2 responses) were observed in typically-developing than autistic participants. Furthermore, continuous associations between response amplitudes and age suggested that older typically-developing participants exhibited stronger N2 responses to all intensities, though this effect may have at least in part reflected the absence of small positive voltage deflections in the N2 latency window. Age was associated with amplitudes of responses to 50 dB through 70 dB sounds in autism, but in contrast to Typical Development (TD), little evidence of relationships between age and amplitudes in the N2 latency window was found in autism in the 80 dB condition. Although caution should be exercised in interpretation due to the cross-sectional nature of this study, these findings suggest that developmental changes in auditory responses may differ across diagnostic groups in a manner that depends on perceived loudness and/or stimulus intensity.

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4. Fearon P, Sonuga-Barke E. Commentary: « Harvest for the World »: Working locally to grow autism services globally – reflections on Divan et al. (2021). Journal of child psychology and psychiatry, and allied disciplines. 2021; 62(5): 536-8.

Autism is associated with complex and diverse needs that vary from individual to individual. Those affected, and their families, often require specialist care and support. These involve educational and clinical skills which are demanding to implement effectively, and costly, in terms of time and money, to deliver. Early screening and intervention approaches, which can improve outcomes, sometimes dramatically, require government prioritisation of investment. A coordinated, evidence-based approach to screening and support is critical for ensuring that individuals with autism thrive. Autism is, of course, a global phenomenon. Whilst its meaning and significance will inevitably vary from one culture to the next, epidemiological studies report similar presentations and rates across all nations and ethnic/racial groupings. Indeed, the provision of effective services to support people with autism is recognised as a universal human right and a global health priority (Divan et al., this issue). However, although the care needs of people with autism are largely similar across the nations of the world, they will inevitably involve a disproportionate call on the finances of less wealthy nations – and a nation’s ability to meet the needs of people with autism is inevitably constrained by their financial circumstances. Countries with limited resources have very difficult choices to make between competing calls for investment that impact their ability to prioritise services for people with autism. Here we explore the implications of these constraints and the best way to address them in the light of the review by Divan et al.

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5. Modarres M, Cochran D, Kennedy DN, Schmidt R, Fitzpatrick P, Frazier JA. Biomarkers Based on Comprehensive Hierarchical EEG Coherence Analysis: Example Application to Social Competence in Autism (Preliminary Results). Neuroinformatics. 2021.

Electroencephalography (EEG) coherence analysis, based on measurement of synchronous oscillations of neuronal clusters, has been used extensively to evaluate functional connectivity in brain networks. EEG coherence studies have used a variety of analysis variables (e.g., time and frequency resolutions corresponding to the analysis time period and frequency bandwidth), regions of the brain (e.g., connectivity within and between various cortical lobes and hemispheres) and experimental paradigms (e.g., resting state with eyes open or closed; performance of cognitive tasks). This variability in study designs has resulted in difficulties in comparing the findings from different studies and assimilating a comprehensive understanding of the underlying brain activity and regions with abnormal functional connectivity in a particular disorder. In order to address the variability in methods across studies and to facilitate the comparison of research findings between studies, this paper presents the structure and utilization of a comprehensive hierarchical electroencephalography (EEG) coherence analysis that allows for formal inclusion of analysis duration, EEG frequency band, cortical region, and experimental test condition in the computation of the EEG coherences. It further describes the method by which this EEG coherence analysis can be utilized to derive biomarkers related to brain (dys)function and abnormalities. In order to document the utility of this approach, the paper describes the results of the application of this method to EEG and behavioral data from a social synchrony paradigm in a small cohort of adolescents with and without Autism Spectral Disorder.

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6. Wang E, Thombre R, Shah Y, Latanich R, Wang J. G-Quadruplexes as pathogenic drivers in neurodegenerative disorders. Nucleic acids research. 2021; 49(9): 4816-30.

G-quadruplexes (G4s), higher-order DNA and RNA secondary structures featuring guanine-rich nucleic acid sequences with various conformations, are widely distributed in the human genome. These structural motifs are known to participate in basic cellular processes, including transcription, splicing, and translation, and their functions related to health and disease are becoming increasingly recognized. In this review, we summarize the landscape of G4s involved in major neurodegenerative disorders, describing the genes that contain G4-forming sequences and proteins that have high affinity for G4-containing elements. The functions of G4s are diverse, with potentially protective or deleterious effects in the pathogenic cascades of various neurological diseases. While the studies of the functions of G4s in vivo, including those involved in pathophysiology, are still in their early stages, we will nevertheless discuss the evidence pointing to their biological relevance. A better understanding of this unique structural element in the biological context is important for unveiling its potential roles in the pathogenesis of diseases such as neurodegeneration and for designing new diagnostic and therapeutic strategies.

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7. Yang R, Zhou H, Liu J, Wang Y, Zhang Y, Wang Y, Liu R, Cao X, Han D, Yang S, Yang J, Kang C. Psychometric properties of the Caregiver Strain Questionnaire among Chinese parents of children with ADHD or ASD. General psychiatry. 2021; 34(2): e100246.

BACKGROUND: There is an urgent need in clinical practice to measure the stress of parenting. The Caregiver Strain Questionnaire (CGSQ) was found to be useful to measure parenting stress, but it has not been validated among the Chinese population. AIMS: To assess the reliability and construct validity of the Chinese version of CGSQ among Chinese parents. METHODS: From 2016 to 2017, 266 parents (patient group) with a child having DSM-5-defined attention deficit hyperactivity disorder (ADHD) (n=107) or autism spectrum disorder (ASD) (n=159) and 268 parents of healthy children (control group) were recruited to the present study in Kunming, Yunnan province. All the parents were asked to fill out the Chinese version of CGSQ. We conducted exploratory factor analysis and confirmatory factor analysis (CFA) to verify construct validity of CGSQ in both patient and control groups. Cronbach’s α coefficient as an index of internal consistency was assessed for each subscale. Fourteen days later, 23 subjects filled out the scale again. Intra-class correlation coefficient was calculated to evaluate the test-retest reliability. RESULTS: (1) Cronbach’s alpha of the global scale was 0.901 for the control group and 0.952 for the patient group. The test-retest reliability for the whole scale was 0.890; (2) CFA indicated that the three-factor model had better fitting indices compared with the two-factor model in both groups. Besides, the fitting indices in the patient group were more favourable than those of the control group, with χ(2)/df=1.564, Goodness-of-Fit Index=0.841, Comparative Fit Index=0.954, and root mean square error of approximation=0.065 for the patient group at three-factor model; (3) The caregiver strain of ASD parents was statistically higher than that of ADHD parents, and caregiver strain of ADHD parents was higher than that of control group. CONCLUSION: These findings provide initial evidence to support the construct validity and reliability of CGSQ as a parenting stress measurement tool for Chinese parents, especially for parents of children with ADHD or ASD.

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8. Zwaigenbaum L, Brian J, Smith IM, Sacrey LR, Franchini M, Bryson SE, Vaillancourt T, Armstrong V, Duku E, Szatmari P, Roberts W, Roncadin C. Symptom trajectories in the first 18 months and autism risk in a prospective high-risk cohort. Journal of child psychology and psychiatry, and allied disciplines. 2021; 62(12): 1435-43.

BACKGROUND: Although early autism spectrum disorder (ASD) detection strategies tend to focus on differences at a point in time, behavioral symptom trajectories may also be informative. METHODS: Developmental trajectories of early signs of ASD were examined in younger siblings of children diagnosed with ASD (n = 499) and infants with no family history of ASD (n = 177). Participants were assessed using the Autism Observation Scale for Infants (AOSI) from 6 to 18 months. Diagnostic outcomes were determined at age 3 years blind to previous assessments. RESULTS: Semiparametric group-based modeling using AOSI scores identified three distinct trajectories: Group 1 (‘Low’, n = 435, 64.3%) was characterized by a low level and stable evolution of ASD signs, group 2 (‘Intermediate’, n = 180, 26.6%) had intermediate and stable levels, and group 3 (‘Inclining’, n = 61, 9.3%) had higher and progressively elevated levels of ASD signs. Among younger siblings, ASD rates at age 3 varied by trajectory of early signs and were highest in the Inclining group, membership in which was highly specific (94.5%) but poorly sensitive (28.5%) to ASD. Children with ASD assigned to the inclining trajectory had more severe symptoms at age 3, but developmental and adaptive functioning did not differ by trajectory membership. CONCLUSIONS: These prospective data emphasize variable early-onset patterns and the importance of a multipronged approach to early surveillance and screening for ASD.

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