1. Abdulhay E, Alafeef M, Hadoush H, Venkataraman V, Arunkumar N. EMD-based analysis of complexity with dissociated EEG amplitude and frequency information: a data-driven robust tool -for Autism diagnosis- compared to multi-scale entropy approach. Mathematical biosciences and engineering : MBE. 2022; 19(5): 5031-54.

OBJECTIVE: Autism spectrum disorder (ASD) is usually characterised by altered social skills, repetitive behaviours, and difficulties in verbal/nonverbal communication. It has been reported that electroencephalograms (EEGs) in ASD are characterised by atypical complexity. The most commonly applied method in studies of ASD EEG complexity is multiscale entropy (MSE), where the sample entropy is evaluated across several scales. However, the accuracy of MSE-based classifications between ASD and neurotypical EEG activities is poor owing to several shortcomings in scale extraction and length, the overlap between amplitude and frequency information, and sensitivity to frequency. The present study proposes a novel, nonlinear, non-stationary, adaptive, data-driven, and accurate method for the classification of ASD and neurotypical groups based on EEG complexity and entropy without the shortcomings of MSE. APPROACH: The proposed method is as follows: (a) each ASD and neurotypical EEG (122 subjects × 64 channels) is decomposed using empirical mode decomposition (EMD) to obtain the intrinsic components (intrinsic mode functions). (b) The extracted components are normalised through the direct quadrature procedure. (c) The Hilbert transforms of the components are computed. (d) The analytic counterparts of components (and normalised components) are found. (e) The instantaneous frequency function of each analytic normalised component is calculated. (f) The instantaneous amplitude function of each analytic component is calculated. (g) The Shannon entropy values of the instantaneous frequency and amplitude vectors are computed. (h) The entropy values are classified using a neural network (NN). (i) The achieved accuracy is compared to that obtained with MSE-based classification. (j) The consistency of the results of entropy 3D mapping with clinical data is assessed. MAIN RESULTS: The results demonstrate that the proposed method outperforms MSE (accuracy: 66.4%), with an accuracy of 93.5%. Moreover, the entropy 3D mapping results are more consistent with the available clinical data regarding brain topography in ASD. SIGNIFICANCE: This study presents a more robust alternative to MSE, which can be used for accurate classification of ASD/neurotypical as well as for the examination of EEG entropy across brain zones in ASD.

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2. Barlati S, Nibbio G, Morena D, Cacciani P, Corsini P, Mosca A, Deste G, Accardo V, Regina V, Lisoni J, Turrina C, Valsecchi P, Vita A. Autistic Symptoms in Schizophrenia: Impact on Internalized Stigma, Well-Being, Clinical and Functional Characteristics. Frontiers in psychiatry. 2022; 13: 801651.

Autism Spectrum Disorders (ASD) symptoms and internalized stigma (or self-stigma) can have a negative impact on cognitive and functional outcomes in people living with schizophrenia. Aim of the present study were to assess and compare internalized stigma, subjective well-being and other socio-demographic, clinical and functional characteristics in people diagnosed with schizophrenia with and without prominent autistic features. Ninety-four inpatients were assessed with measures of internalized stigma, subjective well-being, global clinical severity, schizophrenia symptoms severity, real-world functioning, medication side effects and attitude toward prescribed medications. Subjects with high levels of ASD symptoms were identified with the PANSS Autism Severity Score and compared to other participants. Predictors of prominent ASD features were also assessed. Thirteen patients showed prominent ASD symptoms. They were characterized by fewer years of education, worse real-world functioning and greater symptoms severity. No between-group differences were observed regarding subjective well-being and global internalized stigma severity; however, participants in the « autistic schizophrenia » group showed better stigma resistance. A worse clinical condition and fewer years of education emerged as predictors of autistic schizophrenia. Despite showing a more severe clinical presentation of the disorder and worse functional impairment, participants with prominent ASD symptoms do not present worse subjective well-being or more severe internalized stigma; on the contrary, they show better stigma resistance. ASD symptoms could therefore play a protective role in the internalization of stigma.

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3. Bui S, Meyer BD. Caries and Oral Health Behaviors Among Children With and Without Intellectual and Developmental Disabilities. JAMA pediatrics. 2022.

This study evaluates oral health behaviors and caries in children with and without intellectual and developmental disabilities.

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4. Chi NA, Washington P, Kline A, Husic A, Hou C, He C, Dunlap K, Wall DP. Classifying Autism From Crowdsourced Semistructured Speech Recordings: Machine Learning Model Comparison Study. JMIR pediatrics and parenting. 2022; 5(2): e35406.

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder that results in altered behavior, social development, and communication patterns. In recent years, autism prevalence has tripled, with 1 in 44 children now affected. Given that traditional diagnosis is a lengthy, labor-intensive process that requires the work of trained physicians, significant attention has been given to developing systems that automatically detect autism. We work toward this goal by analyzing audio data, as prosody abnormalities are a signal of autism, with affected children displaying speech idiosyncrasies such as echolalia, monotonous intonation, atypical pitch, and irregular linguistic stress patterns. OBJECTIVE: We aimed to test the ability for machine learning approaches to aid in detection of autism in self-recorded speech audio captured from children with ASD and neurotypical (NT) children in their home environments. METHODS: We considered three methods to detect autism in child speech: (1) random forests trained on extracted audio features (including Mel-frequency cepstral coefficients); (2) convolutional neural networks trained on spectrograms; and (3) fine-tuned wav2vec 2.0-a state-of-the-art transformer-based speech recognition model. We trained our classifiers on our novel data set of cellphone-recorded child speech audio curated from the Guess What? mobile game, an app designed to crowdsource videos of children with ASD and NT children in a natural home environment. RESULTS: The random forest classifier achieved 70% accuracy, the fine-tuned wav2vec 2.0 model achieved 77% accuracy, and the convolutional neural network achieved 79% accuracy when classifying children’s audio as either ASD or NT. We used 5-fold cross-validation to evaluate model performance. CONCLUSIONS: Our models were able to predict autism status when trained on a varied selection of home audio clips with inconsistent recording qualities, which may be more representative of real-world conditions. The results demonstrate that machine learning methods offer promise in detecting autism automatically from speech without specialized equipment.

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5. Dey R, Chattarji S. The same stress elicits different effects on anxiety-like behavior in rat models of Fmr1(-/y) and Pten(+/). Behavioural brain research. 2022; 428: 113892.

Individuals affected by autism spectrum disorders (ASDs) exhibit affective symptoms such as enhanced anxiety, which has been seen in rodent models of ASDs as well. Exposure to stress is also known to be anxiogenic. However, the effects of stress on animal models of ASDs remains less explored. Hence, in the present study we examined the impact of acute foot shock stress on anxiety-like behavior in two monogenic rat models of ASDs, fragile X mental retardation 1 knockout (Fmr1(-/y)) and phosphatase and tensin homolog heterozygous (Pten(+/-)). Before exposure to stress, the basal levels of anxiety-like behavior in both Fmr1(-/y) and Pten(+/-) rats were comparable to that seen in wild-type (WT) control rats in an open-field arena. After exposure to the foot shock stress, however, Fmr1(-/y) rats showed the highest levels of anxiety-like behavior. WT animals also showed enhanced anxiety-like behavior but not as robustly as the Fmr1(-/y) animals. In Pten(+/-) animals, on the other hand, the same stressor did not elicit any anxiogenic effects. In a separate group of rats, the efficacy of the acute foot shock in triggering a stress response was confirmed wherein a comparable surge in circulating corticosterone was seen in all three experimental groups. Thus, the same acute stress led to different effects on anxiety-like behavior in different rodent models of ASDs, suggesting that vulnerability to stress-induced changes in anxiety may vary with the underlying genetic mutations.

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6. Hajiahmadi M, Nilchian F, Tabrizi A, Gosha HM, Ahmadi M. Oral health knowledge, attitude, and performance of the parents of 3-12-year-old autistic children. Dental research journal. 2022; 19: 24.

BACKGROUND: This study aimed to assess the oral health knowledge, attitude, and performance of the parents of autistic 3-12-year-old. MATERIALS AND METHODS: This descriptive cross-sectional study evaluated 50 parents of autistic 3-12-year-old in Isfahan city. The oral health knowledge, attitude, and performance of the parents were evaluated using a self-administered questionnaire with closed questions, after confirming its validity and reliability. Data were analyzed using independent t-test, one-way ANOVA, Pearson’s correlation coefficient, regression analysis, and Cronbach’s alpha (α =0.05). RESULTS: Of children, 32 (64%) were males and 18 (36%) were females. A total of 28 (56%) fathers and 22 (44%) mothers participated in this study. The mean age of the children and parents was 8.12 ± 2.4 years and 39.6 ± 6.8 years, respectively. The mean age at the time of diagnosis of autism was 4.08 ± 1.33 years. Of all children, 24 (46.2%) had a previous dental history. The mean scores of the knowledge and attitude of the parents were 5.2 ± 1.7 out of 11, and 16.1 ± 3.1 out of 30, respectively. Of demographic variables, order of child birth had a significant correlation with attitude of the parents, and those with one single child had significantly higher attitude score (P = 0.03). CONCLUSION: The oral health knowledge, attitude, and performance of the parents of autistic children in Isfahan city were lower than expected, which calls for knowledge enhancement strategies in this respect.

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7. Howkins J, Hassiotis A, Bradley E, Levitas A, Sappok T, Sinai A, Thakur A, Shankar R. International clinician perspectives on pandemic-associated stress in supporting people with intellectual and developmental disabilities. BJPsych open. 2022; 8(3): e84.

BACKGROUND: People living with intellectual and developmental disabilities (IDD) have suffered disproportionately in health outcomes and general well-being during the COVID-19 pandemic. There is emerging evidence of increased psychological distress. Increased strain has also fallen on clinicians managing the psychological needs of people with IDD, in the context of learning new technologies, staff shortages, reduced services and paused training opportunities. AIMS: To examine clinicians’ experiences of patient care, clinical management and the impact of care delivery. METHOD: A mixed fixed-response and free-text survey comprising 28 questions covering four areas (responder demographics, clinical practice, changes to local services and clinician experiences) was developed, using the STROBE guidance. It was disseminated through an exponential snowballing technique to clinicians in seven high-income countries. Quantitative data were analysed and presented with Microsoft Excel. Qualitative data were coded and thematically analysed, and presented with in-text quotations. RESULTS: There were 139 respondents, mostly senior physicians (71%). Two-thirds reported over 10 years working in the field. Quantitative findings include increased clinician stress (77%), referrals (53%), patient distress presentations (>70%), patient isolation (73%) and carer burden (89%), and reduced patient participation in daily activities (86%). A third reported increased psychotropic prescribing. Qualitative analysis outlined changes to clinical practice, particularly the emergence and impact of telehealth. CONCLUSIONS: In the countries surveyed, the pandemic has not only had a significant impact on people with IDD, but also their carers and clinicians. A proactive, holistic international response is needed in preparedness for future public health emergencies.

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8. Jiao C, Wang JM, Kuang HX, Wu ZH, Liu T. [Effects of CACNA1H gene knockout on autistic-like behaviors and the morphology of hippocampal neurons in mice]. Beijing da xue xue bao Yi xue ban = Journal of Peking University Health sciences. 2022; 54(2): 209-16.

OBJECTIVE: To investigate the effects of CACNA1H gene knockout (KO) on autistic-like behaviors and the morphology of hippocampal neurons in mice. METHODS: In the study, 25 CACNA1H KO mice of 3-4 weeks old and C57BL/6 background were recruited as the experimental group, and 26 wild type (WT) mice of the same age and background were recruited as the control group. Three-chamber test and open field test were used to observe the social interaction, anxiety, and repetitive behaviors in mice. After that, their brain weight and size were measured, and the number of hippocampal neurons were observed by Nissl staining. Furthermore, the CACNA1H heterozygote mice were interbred with Thy1-GFP-O mice to generate CACNA1H(-/-)-Thy1(+)(KO-GFP) and CACNA1H(+/+)-Thy1(+) (WT-GFP) mice. The density and maturity of dendritic spines of hippocampal neurons were observed. RESULTS: In the sociability test session of the three-chamber test, the KO mice spent more time in the chamber of the stranger mice than in the object one (F(1, 14)=95.086, P < 0.05; Post-Hoc: P < 0.05), without any significant difference for the explored preference index between the two groups (t=1.044, P>0.05). However, in the social novelty recognition test session, no difference was observed between the time of the KO mice spend in the chamber of new stranger mice and the stranger one (F(1, 14)=18.062, P < 0.05; Post-Hoc: P>0.05), and the explored preference index of the KO mice was less than that of the control group (t=2.390, P < 0.05). In the open field test, the KO mice spent less time in the center of the open field apparatus than the control group (t=2.503, P < 0.05), but the self-grooming time was significantly increased compared with the control group (t=-2.299, P < 0.05). Morphological results showed that the brain weight/body weight ratio (t=0.356, P>0.05) and brain size (t=-0.660, P>0.05) of the KO mice were not significantly different from those of the control group, but the number of neurons were significantly reduced in hippocampal dentate gyrus compared with the control group (t=2.323, P < 0.05). Moreover, the density of dendritic spine of dentate gyrus neurons in the KO-GFP mice was significantly increased compared with the control group (t=-2.374, P < 0.05), without any significant difference in spine maturity (t=-1.935, P>0.05). CONCLUSION: CACNA1H KO mice represent autistic-like behavior, which may be related to the decrease in the number of neurons and the increase in the density of dendritic spine in the dentate gyrus. Publisher: Abstract available from the publisher. chi.

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9. Ma SY, Kwan KM. Size anomaly and alteration of GABAergic enzymes expressions in cerebellum of a valproic acid mouse model of autism. Behavioural brain research. 2022; 428: 113896.

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by social communication deficit and repetitive behaviour. In the past few years, increasing clinical evidence has shown that the cerebellum may contribute to the neuropathology of ASD. However, studies in the mechanism for the involvement of the cerebellum in autism remained speculative. Although some have suggested the possibility of a change of glutamate decarboxylases in the cerebellum of autistic patients, this remains controversial and is limited to the alteration in transcriptional level. This study aimed to investigate the cerebellar structure and determine the expression of rate-limiting GABAergic enzymes in GABA signalling of the autism cerebellum. Pregnant C57BL/6 J mice were intraperitoneally injected with a dosage of 500 mg/kg valproic acid (VPA) on embryonic day 10.5 for autistic behavioural induction. This study found that early prenatal exposure to VPA led to tail deformation and decreased cerebellar weight and size. Early adult mouse models with autistic behaviour showed reduced expression of both isoforms of glutamate decarboxylases (GAD) 65 and 67 in the cerebellum. Also, protein expressions of cerebellar type 1 GABA transporter (GAT-1) and GABA transaminase (GABAT) were reduced in VPA mice. It indicated that abnormal GABA production, recycling, and metabolism could alter the excitatory-inhibitory balance in the autistic cerebellum. Thus, our findings provide supporting evidence that cerebellum impairment could be an etiology of environmentally induced autism. Changes in cerebellar structure and the altered GABAergic enzymes in the cerebellum provide targets for future therapeutic studies in idiopathic autism.

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10. Potter SN, Harvey DJ, Sterling A, Abbeduto L. Mental Health Challenges, Parenting Stress, and Features of the Couple Relationship in Parents of Children With Fragile X Syndrome. Frontiers in psychiatry. 2022; 13: 857633.

BACKGROUND: Individuals with fragile X syndrome (FXS) have significant delays in cognition and language, as well as anxiety, symptoms of autism spectrum disorder, and challenging behaviors such as hyperactivity and aggression. Biological mothers of children with FXS, who are themselves FMR1 premutation or full mutation carriers, are at elevated risk for mental health challenges in addition to experiencing stress associated with parenting a child with significant disabilities. However, little is known about fathers in these families, including the ways in which parental well-being influences the mother-father relationship and the impact of child characteristics on paternal and couple functioning. METHOD: The current study examined features of, and relationships between, parental well-being, couple well-being, and child functioning in 23 families of young boys with FXS. Mothers and fathers independently completed multiple questionnaires about their individual well-being, couple functioning, and child behavior. One parent per family also completed an interview about the child’s adaptive skills. RESULTS: Results suggest that both mothers and fathers in these families experience clinically significant levels of mental health challenges and elevated rates of parenting stress relative to the general population. Findings also indicate that the couples’ relationship may be a source of strength that potentially buffers against some of the daily stressors faced by these families. Additionally, parents who reported less parenting stress had higher couples satisfaction and dyadic coping. Finally, parents of children with less severe challenging behaviors exhibited fewer mental health challenges, less parenting stress, and higher levels of both couples satisfaction and dyadic coping. Parents of children with higher levels of adaptive behavior also reported less parenting stress and higher couples satisfaction. CONCLUSION: Overall, this study provides evidence that families of children with FXS need access to services that not only target improvements in the child’s functioning, but also ameliorate parental stress. Family-based services that include both mothers and fathers would lead to better outcomes for all family members.

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11. Spain D, Milner V, Mason D, Iannelli H, Attoe C, Ampegama R, Kenny L, Saunders A, Happé F, Marshall-Tate K. Improving Cognitive Behaviour Therapy for Autistic Individuals: A Delphi Survey with Practitioners. Journal of rational-emotive and cognitive-behavior therapy : RET. 2022: 1-19.

There is emerging evidence of the effectiveness of individual and group cognitive behaviour therapy (CBT) for autistic individuals, in particular to address anxiety, obsessive compulsive disorder and depression. Many CBT studies have incorporated relatively stringent standards, with regards to participant inclusion/exclusion criteria, delivery of manualised approaches and assurance of therapist training and oversight. We know less about what happens in routine CBT practice and, importantly, how service provision can be improved for autistic individuals. The present study recruited 50 CBT practitioners to a three round Delphi survey. The aims were to elicit professionals’ perspectives regarding barriers to the acceptability and effectiveness of CBT for autistic individuals, and to generate consensus, both about ways of enhancing service provision, as well as the autism-relevant training needs of CBT practitioners. Study findings indicated six barriers to accessible and effective CBT for autistic individuals, relating to service provision, practitioner-related factors, client-related factors, CBT-related factors, national guidelines, and systemic considerations. There was participant consensus that changes in five domains (specifically relating to process issues, service provision, practitioners, techniques and therapeutic approach) could improve the CBT care pathway. Consensus was generated about the training needs of CBT practitioners: training about autism, CBT-specific issues, co-occurring conditions and engagement, were deemed fundamental for enhancing practice. Participants also identified autism-relevant issues for clinical supervision. Further sustained research is needed to determine the effects of adapted service provision and improved practitioner knowledge and skills on the outcomes of autistic individuals who have CBT.

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12. Tortelli C, Pomè A, Turi M, Igliozzi R, Burr DC, Binda P. Contextual Information Modulates Pupil Size in Autistic Children. Frontiers in neuroscience. 2022; 16: 752871.

Recent Bayesian models suggest that perception is more « data-driven » and less dependent on contextual information in autistic individuals than others. However, experimental tests of this hypothesis have given mixed results, possibly due to the lack of objectivity of the self-report methods typically employed. Here we introduce an objective no-report paradigm based on pupillometry to assess the processing of contextual information in autistic children, together with a comparison clinical group. After validating in neurotypical adults a child-friendly pupillometric paradigm, in which we embedded test images within an animation movie that participants watched passively, we compared pupillary response to images of the sun and meaningless control images in children with autism vs. age- and IQ-matched children presenting developmental disorders unrelated to the autistic spectrum. Both clinical groups showed stronger pupillary constriction for the sun images compared with control images, like the neurotypical adults. However, there was no detectable difference between autistic children and the comparison group, despite a significant difference in pupillary light responses, which were enhanced in the autistic group. Our report introduces an objective technique for studying perception in clinical samples and children. The lack of statistically significant group differences in our tests suggests that autistic children and the comparison group do not show large differences in perception of these stimuli. This opens the way to further studies testing contextual processing at other levels of perception.

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13. Wu WL, Huang YL, Liang JM, Chen CH, Wang CC, Ho WH. Interactive Digital Game for Improving Visual-Perceptual Defects in Children With a Developmental Disability: Randomized Controlled Trial. JMIR serious games. 2022; 10(2): e34756.

BACKGROUND: Visual-perceptual defects in children can negatively affect their ability to perform activities of daily living. Conventional rehabilitation training for correcting visual-perceptual defects has limited training patterns and limited interactivity, which makes motivation difficult to sustain. OBJECTIVE: We aimed to develop and evaluate an interactive digital game system for correcting visual-perceptual defects and evaluate its effectiveness. METHODS: Participants were children aged 5 to 10 years with a diagnosis of visual-perceptual defect associated with a developmental disability. The children were randomized into a digital game group who received the traditional course of rehabilitation combined with an interactive digital game intervention (n=12) and a standard rehabilitation group (n=11) who only received the traditional course of rehabilitation. Each group underwent rehabilitation once a week for 4 weeks. Overall improvement in Test of Visual Perceptual Skills 3rd edition (TVPS-3) score and overall improvement in performance in the interactive digital game were evaluated. Parents and therapists were asked to complete a satisfaction questionnaire. RESULTS: After 4 weeks, the TVPS-3 score had significantly increased (P=.002) in the digital game group (pre: mean 41.67, SD 13.88; post: 61.50, SD 21.64). In the standard rehabilitation group, the TVPS-3 score also increased, but the increase was not statistically significant (P=.58). Additionally, TVPS-3 score increases were significantly larger for the digital game group compared with those for the standard rehabilitation group (P=.005). Moreover, both parents and therapists were highly satisfied with the system. All 5 themes of satisfaction had mean scores higher than 4 in a 5-point scale questionnaire (mean 4.30, SD 0.56). CONCLUSIONS: The system has potential applications for improving visual-perceptual function in children undergoing medical rehabilitation for developmental disability. TRIAL REGISTRATION: ClinicalTrials.gov NCT05016492; http://clinicaltrials.gov/ct2/show/NCT05016492.

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