1. Ahmed ZAT, Aldhyani THH, Jadhav ME, Alzahrani MY, Alzahrani ME, Althobaiti MM, Alassery F, Alshaflut A, Alzahrani NM, Al-Madani AM. Facial Features Detection System To Identify Children With Autism Spectrum Disorder: Deep Learning Models. Computational and mathematical methods in medicine. 2022; 2022: 3941049.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder associated with brain development that subsequently affects the physical appearance of the face. Autistic children have different patterns of facial features, which set them distinctively apart from typically developed (TD) children. This study is aimed at helping families and psychiatrists diagnose autism using an easy technique, viz., a deep learning-based web application for detecting autism based on experimentally tested facial features using a convolutional neural network with transfer learning and a flask framework. MobileNet, Xception, and InceptionV3 were the pretrained models used for classification. The facial images were taken from a publicly available dataset on Kaggle, which consists of 3,014 facial images of a heterogeneous group of children, i.e., 1,507 autistic children and 1,507 nonautistic children. Given the accuracy of the classification results for the validation data, MobileNet reached 95% accuracy, Xception achieved 94%, and InceptionV3 attained 0.89%.

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2. Caruso A, Ricceri L, Caruso A, Nicoletti F, Gaetano A, Scaccianoce S. Postweaning social isolation and autism-like phenotype: A biochemical and behavioral comparative analysis. Behavioural brain research. 2022; 428: 113891.

Adolescence is a critical period for brain development. In most mammalian species, disturbances experienced during adolescence constitute a risk factor for several neuropsychiatric disorders. In this study, we compared the biochemical and behavioral profile induced by postweaning social isolation (PWSI) in inbred C57BL/6 N mice with that of BTBR mice, a rodent model of autism spectrum disorders. Male C57BL/6 N mice were either housed in groups of four or isolated from weaning (postnatal day 21) for four weeks before experimental analyses. After weaning, male BTBR mice were housed four per cage and analyzed at 48 days of age. PWSI reduced hippocampal levels of type 2 metabotropic glutamate (mGlu2) receptors, and glucocorticoid and mineralocorticoid receptors. A similar reduction was seen in group-housed BTBR mice. Plasma corticosterone levels in basal conditions were not influenced by PWSI, but were increased in BTBR mice. Social investigation (total and head sniffing) and the number of ultrasonic vocalizations were reduced in both PWSI mice and age-matched group-housed BTBR mice, indicating a lower social responsiveness in both groups of mice. These results suggest that absence of social stimuli during adolescence induces an endophenotype with social deficit features, which mimics the phenotype of a mouse model of autism spectrum disorders.

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3. Coughlan B, Woolgar M, Mann A, Duschinsky R. Clinical perspectives on the identification of neurodevelopmental conditions in children and changes in referral pathways: qualitative interviews. BMJ open. 2022; 12(4): e049821.

OBJECTIVE: Previous work has raised questions about the role of general practitioners (GPs) in the identification of neurodevelopmental conditions such as autism spectrum disorders (autism) and attention deficit hyperactivity disorders (ADHD). This study aimed to explore how GPs identify these conditions in practice and their perspectives on recent changes to local referral pathways that mean referrals to the neurodevelopmental team come through educational professionals and health visitors, rather than GPs. This study also aimed to explore Child and Adolescent Mental Health Services (CAMHS) specialist’s perspectives on the role of GPs. SETTING: GP practices, local neurodevelopmental services and specialist CAMHS services in the UK. PARTICIPANTS: semistructured interviews were conducted with GPs (n=8), specialists in local CAMHS (n=7), and professionals at national CAMHS services around the country (n=10). Interviews were conducted between January and May 2019. A framework approach informed by thematic analysis was used to analyse the data. RESULTS: GPs drew on various forms of tacit and explicit information including behavioural markers, parental report, prior knowledge of the family, expert and lay resources. Opinions varied between GPs regarding changes to the referral pathway, with some accepting the changes and others describing it as a ‘disaster’. CAMHS specialists tended to feel that GPs required more neurodevelopmental training and time to conduct consultations. CONCLUSION: This study adds to the literature showing that GPs use an array of information sources when making referral decisions for autism and ADHD. Further work is urgently required to evaluate the impact of reconfiguring neurodevelopmental referral pathways such that GPs have a diminished role in identification.

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4. Derieux C, Léauté A, Brugoux A, Jaccaz D, Terrier C, Pin JP, Kniazeff J, Le Merrer J, Becker JAJ. Chronic sodium bromide treatment relieves autistic-like behavioral deficits in three mouse models of autism. Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology. 2022.

Autism Spectrum Disorders (ASD) are neurodevelopmental disorders whose diagnosis relies on deficient social interaction and communication together with repetitive behavior. To date, no pharmacological treatment has been approved that ameliorates social behavior in patients with ASD. Based on the excitation/inhibition imbalance theory of autism, we hypothesized that bromide ions, long used as an antiepileptic medication, could relieve core symptoms of ASD. We evaluated the effects of chronic sodium bromide (NaBr) administration on autistic-like symptoms in three genetic mouse models of autism: Oprm1(-/-), Fmr1(-/-) and Shank3(Δex13-16)(-/-) mice. We showed that chronic NaBr treatment relieved autistic-like behaviors in these three models. In Oprm1(-/-) mice, these beneficial effects were superior to those of chronic bumetanide administration. At transcriptional level, chronic NaBr in Oprm1 null mice was associated with increased expression of genes coding for chloride ions transporters, GABA(A) receptor subunits, oxytocin and mGlu4 receptor. Lastly, we uncovered synergistic alleviating effects of chronic NaBr and a positive allosteric modulator (PAM) of mGlu4 receptor on autistic-like behavior in Oprm1(-/-) mice. We evidenced in heterologous cells that bromide ions behave as PAMs of mGlu4, providing a molecular mechanism for such synergy. Our data reveal the therapeutic potential of bromide ions, alone or in combination with a PAM of mGlu4 receptor, for the treatment of ASDs.

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5. Hwang JW. How Must We Prepare in the Next Decades When Caring for Those With Developmental Disabilities: « Grown Up » (2018). Soa–ch’ongsonyon chongsin uihak = Journal of child & adolescent psychiatry. 2022; 33(2): 55-6.

The Guarantee of Rights and Support for Persons with Developmental Disabilities Act was enacted and revised in 2014. However, national measures for persons with developmental disabilities remain insufficient. In the film, « Grown Up, » director Hyeyoung Jang filmed the daily life of her sister, who has developmental disabilities. She raised not only the issue of institutionalization in people with developmental disabilities in Korea but also the issue of a lack of policies that would be essential to them and their family members. In the future, I hope that as experts, child and adolescent psychiatrists in Korea will pay more attention to the lives of people with developmental disabilities outside the clinic and propose policies to help them and their family members.

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6. Lin YJ, Chiu YN, Wu YY, Tsai WC, Gau SS. Developmental Changes of Autistic Symptoms, ADHD Symptoms, and Attentional Performance in Children and Adolescents with Autism Spectrum Disorder. Journal of autism and developmental disorders. 2022.

This study followed up ADHD/autistic symptoms and attentional performance in children/adolescents with ASD and typically developing ones (TD) over 5-7 years. The participants were stratified by age at baseline into child (< 12 years) and adolescent (12-19 years) groups. ADHD symptoms, especially hyperactivity, and attentional functions significantly improved during follow-up, more in children than in adolescents, in both ASD and TD. Significantly more omission errors and perseverations were noted in ASD than TD through the follow-up. Children with ASD had more improvement in reaction time while adolescents with ASD had less improvement in commission errors and detectability than TD. No correlation of attentional functions and ADHD symptoms in ASD implied different neural mechanisms of ADHD symptoms between ASD and ADHD.

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7. Martín Fernández-Mayoralas D, Albert J, López-Martín S, de la Peña MJ, Fernández-Perrone AL, Jiménez de Domingo A, Calleja-Pérez B, Martínez-García M, Álvarez S, Fernández-Jaén A. Bi-Allelic c.1746G>T; p.Leu582= Variants in TUBGCP4 in a Boy with Autism: Clinical Data and Literature Review. Molecular syndromology. 2022; 13(2): 165-70.

Bi-allelic mutations in the TUBGCP4 gene have been recently associated with autosomal recessive microcephaly with chorioretinopathy. However, little is known about the genotype-phenotype characteristics of this disorder. Here, we describe a 5-year-old male patient with autism and a normal occipitofrontal circumference. No retinal abnormalities were observed. Brain MRI revealed the presence of enlarged sheaths of both tortuous optic nerves; both eyes had shorter axial lengths. Whole-exome sequencing in trio revealed synonymous TUBGCP4 variants in homozygous state: c.1746G>T; p.Leu582=. This synonymous variant has been previously described and probably leads to skipping of exon 16 of TUBGCP4. These results broaden the clinical spectrum of this new syndrome and suggest that TUBGCP4 bi-allelic mutations may underlie complex neurodevelopmental disorders.

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8. Panganiban JL, Shire SY, Williams J, Kasari C. Supporting peer engagement for low-income preschool students with autism spectrum disorder during academic instruction: A pilot randomized trial. Autism : the international journal of research and practice. 2022: 13623613221085339.

Children with autism spectrum disorder attending special education preschool classrooms may not receive support that addresses their core challenges, such as engagement and social communication. There are interventions designed to target these core challenges, like the play-based intervention known as Joint Attention, Symbolic Play, Engagement, and Regulation. Embedding strategies from an intervention like Joint Attention, Symbolic Play, Engagement, and Regulation into more traditional academic activities can help teachers target engagement and social communication throughout the school day. In the current study, we collaborated with special education preschool teachers to embed Joint Attention, Symbolic Play, Engagement, and Regulation strategies during small group time for moderate to severe disability students with autism spectrum disorder, 3-5 years of age. Compared to teachers implementing the standard preschool curriculum, teachers trained in Joint Attention, Symbolic Play, Engagement, and Regulation strategies effectively embedded these strategies in their small group activities, and their students were more likely to engage with peers during these activities. Supporting teachers to embed targeted strategies in academic activities can help them provide students more opportunities to engage with peers during the school day. Teachers can support their autistic students to interact appropriately with their peers. Unlike interventions that train peers to act as a teacher, embedding Joint Attention, Symbolic Play, Engagement, and Regulation strategies during small group academic activities facilitates naturalistic social interactions for autistic students.

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9. Sano M, Hirosawa T, Kikuchi M, Hasegawa C, Tanaka S, Yoshimura Y. Relation between acquisition of lexical concept and joint attention in children with autism spectrum disorder without severe intellectual disability. PloS one. 2022; 17(4): e0266953.

In children with autism spectrum disorder (ASD), impairment of joint attention and language function are observed frequently from early childhood. Earlier reports have described these two phenomena as mutually related. For this study, developing past research, the relation between joint attention and the ability of conceptual inference is examined in 113 Japanese children (67.9 months mean age, 75% male) with ASD. We calculated Pearson’s correlation coefficients between their Joint attention abnormality evaluated by ADOS-2 and « Riddle » subscale in K-ABC, then they are negatively correlated: r (104) = -.285. A larger abnormality of joint attention is associated with a lower ability of conceptual inference. New findings were obtained indicating that, in children of this age group with ASD, the degree of joint attention impairment is correlated negatively with conceptual inference ability, but not with expressive and receptive language abilities. Consideration of the mechanism of this relation is presented in this report.

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10. Song DY, Kim D, Lee HJ, Bong G, Han JH, Yoo HJ. Patterns of Restricted and Repetitive Behaviors in Toddlers and Young Children with Autism Spectrum Disorder. Soa–ch’ongsonyon chongsin uihak = Journal of child & adolescent psychiatry. 2022; 33(2): 35-40.

OBJECTIVES: Restricted and repetitive behaviors (RRBs) are a core symptom in the diagnosis of autism spectrum disorder (ASD). The complexity of behavioral patterns has called for the creation of phenotypically homogeneous subgroups among individuals with ASD. The purpose of this study was 1) to investigate the different types of RRBs and 2) to explore whether subgroups created by RRBs would show unique levels of functioning in toddlers and young children with ASD. METHODS: A total of 313 children with ASD, aged 12-42 months were included in the analysis. The Autism Diagnostic Interview-Revised was used to obtain information on the different types of RRBs by grouping 15 items into six categories. The Vineland Adaptive Behaviors Scale, a parent-reported questionnaire, was used to measure adaptive functioning. A portion of the children were analyzed separately for verbal-related RRBs based on their expressive language level. Two-step cluster analysis using RRB groups as features was used to create subgroups. Analysis of covariance while covarying for age and language was performed to explore the clinical characteristics of each cluster group. RESULTS: Sensory-related RRBs were the most prevalent, followed by circumscribed interests, interest in objects, resistance to change, and repetitive body movements. A subset of the children was analyzed separately to explore verbal-related RRBs. Four cluster groups were created based on reported RRBs, with multiple RRBs demonstrating significant delays in adaptive functioning. CONCLUSION: Heterogeneity of RRBs emerges at a young age. The different patterns of RRBs can be used as valuable information to determine developmental trajectories with better implications for treatment approaches.

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11. Song Y, Shen B, Dong L, Pang Y, Bo J. Does Symptom Severity Moderate the Relationship Between Body Mass Index and Motor Competence in Children With Autism Spectrum Disorders? An Exploratory Study. Adapted physical activity quarterly : APAQ. 2022: 1-15.

To date, there has been little research considering both autism spectrum disorder (ASD) symptom severity and motor impairment simultaneously when investigating their associations with obesity. This study was designed to identify the moderating role of symptom severity in the relationship between motor competence and overweight/obesity for children with ASD. Seventy-eight children with a clinical diagnosis were recruited from a large autism rehabilitation center in Wuhan, China. Chi-square, partial correlation, and moderation regression analyses revealed that the prevalence of overweight and obesity was similar regardless of symptom severity. Balance was the only motor skill that correlated with body mass index. Furthermore, symptom severity significantly moderated the correlation. Children with low autism severity might be more likely to demonstrate the relationship between balance and body mass index than those with high autism severity. Combating obesity by enhancing motor competence should cautiously consider personal and environment factors such as individual severity of ASD.

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12. Vazifekhah S, Barfi S, Soleimany F, Aliakbar A, Zavvari F, Karimzadeh F. The plasma level of glutamic acid decarboxylase 65 (GAD65) increased in severely autistic Iranian children. Bratislavske lekarske listy. 2022; 123(5): 347-51.

INTRODUCTION: Autism spectrum disorder (ASD) is a neurodevelopmental disorder. The major etiological mechanism lies in glutamatergic/GABAergic imbalance. The aim of this study was to evaluate the plasma levels of glutamic acid decarboxylase 65 (GAD65) protein in mildly and severely autistic patients, and also to compare plasma GAD65 concentration in mild and severe autism. METHOD: In total, 62 autistic patients (aged 6-9 years) and 17 age-matched neurotypically healthy controls were included in the study. The diagnosis, as well as the level of autism, was assessed by applying the Gilliam Autism Rating Scale. Plasma GAD65 protein level was determined using an enzyme-linked immunosorbent assay (ELISA) kit for GAD65. RESULTS: Our findings showed no remarkable alteration in plasma GAD65 concentration in patients with mild autism as compared to healthy subjects, while patients with severe autism showed an increased plasma level of GAD65 as compared to healthy controls and mildly autistic patients. CONCLUSION: Our findings suggest the level of plasma GAD65 to be considered a potential diagnostic biomarker for the severity of autism (Fig. 2, Ref. 40).

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13. Wolfe H. Seeing me as high functioning masks my difficulties. BMJ (Clinical research ed). 2022; 377: o491.

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