1. Akhter S, Shefa J, Quader MA, Talukder K, Hussain AE, Kundu GK, Fatema K, Alam ST, Islam KA, Rahman MS, Rahman MM, Hasan Z, Mannan M. Autism spectrum disorder among 16- to 30-month-old children in Bangladesh: Observational cross-sectional study. Autism : the international journal of research and practice. 2022: 13623613221135297.

A nationwide survey was done in Bangladesh to assess autism spectrum disorder prevalence in 16- to 30-month-old children at urban-rural distribution and to determine the association with socioeconomic and demographic conditions. A three-stage cluster sampling method was used where districts from all divisions were selected in the first stage, census enumeration areas as blocks of households were selected in the second stage and households (within the blocks) were selected in the third stage. Thereby, it included 38,440 children from 37,982 households (71% rural, 29% urban) aged 16-30 months from 30 districts of eight divisions of Bangladesh. Screening was done with a ‘Red Flag’ tool and Modified Checklist for Toddlers and a final diagnosis using Diagnostic and Statistical Manual of Mental Disorders, 5th Edition for autism spectrum disorder. Autism spectrum disorder prevalence was 17 per 10,000 young children – in other words, one in 589 young children. Boys were found at higher risk of autism (one in 423 boys; one in 1026 girls). Prevalence of autism spectrum disorder was higher in urban environments than in rural ones – 25/10,000 and 14/10,000, respectively. More autism spectrum disorder children were found in advanced age groups of parents, especially mothers, and in households with a higher wealth quintile. This survey is significant as it covers both urban and rural areas and specifically targets very young children. The involvement of the Bangladesh Bureau of Statistics, as well as support from the entire healthcare system infrastructure, makes this survey more representative on a national level. Its results will form a database to support the development of an effective early intervention programme in Bangladesh. We hope it will prove useful for researchers, clinicians and frontline healthcare workers, and inform the decisions of policymakers and funders in Bangladesh.

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2. Alhamoud AH, Yatimi A, Towheri SA, Sharahili HA, Hawas AM. Risperidone Abruption-Induced Tardive Dyskinesia in a Six-Year-Old Male Patient With Known Autism and Attention Deficit Hyperactivity Disorder: A Case Report. Cureus. 2022; 14(11): e31492.

As a serotonin-dopamine antagonist, risperidone is less likely than traditional antipsychotics to result in tardive dyskinesia (TD). There are not many reports of risperidone abruption-induced TD. Herein we report a new case of tardive dyskinesia induced by a sudden stop of risperidone during the treatment of an autistic patient with attention deficit hyperactivity disorder (ADHD) on risperidone. He was presented to the emergency department in King Fahd Central Hospital in Jazan, Saudi Arabia, with a history of abnormal movement in the form of unsteady gait, axial dystonia, twisting and spreading of fingers, shoulder shrugging, and protruding tongue associated with hypersalivation, with no other signs and symptoms. These symptoms started after two days of abruption. The laboratory and imaging results showed normal findings. Other causes that induced symptoms were ruled out. The diagnoses of tardive dyskinesia were presumed. Risperidone was not restarted, and clonazepam was started with a gradual increase of the dose from 0.2 mg/twice a day for five days to 0.2 mg/three times a day. The patient’s symptoms improved, and he was discharged with a follow-up with a psychiatrist and neurologist. Risperidone and other atypical second-generation antipsychotics were used to treat autism spectrum disorders. TD is more likely to be triggered by the abrupt withdrawal of risperidone. The chosen laboratory tests and imaging tests are helpful in ruling out other causes that induce similar symptoms and presumed diagnosis of TD. The conventional recommended treatment for TD was clonazepam.

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3. An WW, Nelson CA, Wilkinson CL. Neural response to repeated auditory stimuli and its association with early language ability in male children with Fragile X syndrome. Frontiers in integrative neuroscience. 2022; 16: 987184.

BACKGROUND: Fragile X syndrome (FXS) is the most prevalent form of inherited intellectual disability and is commonly associated with autism. Previous studies have linked the structural and functional alterations in FXS with impaired sensory processing and sensory hypersensitivity, which may hinder the early development of cognitive functions such as language comprehension. In this study, we compared the P1 response of the auditory evoked potential and its habituation to repeated auditory stimuli in male children (2-7 years old) with and without FXS, and examined their association with clinical measures in these two groups. METHODS: We collected high-density electroencephalography (EEG) data in an auditory oddball paradigm from 12 male children with FXS and 11 age- and sex-matched typically developing (TD) children. After standardized EEG pre-processing, we conducted a spatial principal component (PC) analysis and identified two major PCs-a frontal PC and a temporal PC. Within each PC, we compared the P1 amplitude and inter-trial phase coherence (ITPC) between the two groups, and performed a series of linear regression analysis to study the association between these EEG measures and several clinical measures, including assessment scores for language abilities, non-verbal skills, and sensory hypersensitivity. RESULTS: At the temporal PC, both early and late standard stimuli evoked a larger P1 response in FXS compared to TD participants. For temporal ITPC, the TD group showed greater habituation than the FXS group. However, neither group showed significant habituation of the frontal or temporal P1 response. Despite lack of habituation, exploratory analysis of brain-behavior associations observed that within the FXS group, reduced frontal P1 response to late standard stimuli, and increased frontal P1 habituation were both associated with better language scores. CONCLUSION: We identified P1 amplitude and ITPC in the temporal region as a contrasting EEG phenotype between the FXS and the TD groups. However, only frontal P1 response and habituation were associated with language measures. Larger longitudinal studies are required to determine whether these EEG measures could be used as biomarkers for language development in patients with FXS.

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4. Clavenna A, Cartabia M, Fortino I, Leoni O, Bonati M. Delay in pharmacological treatment of autistic children after recognition of the disorder. European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology. 2022; 65: 54-5.

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5. Cumberland A, Hale N, Azhan A, Gilchrist CP, Chincarini G, Tolcos M. Excitatory and inhibitory neuron imbalance in the intrauterine growth restricted fetal guinea pig brain: Relevance to the developmental origins of schizophrenia and autism. Developmental neurobiology. 2022.

Neurodevelopmental disorders such as schizophrenia and autism are thought to involve an imbalance of excitatory and inhibitory signaling in the brain. Intrauterine growth restriction (IUGR) is a risk factor for these disorders, with IUGR onset occurring during critical periods of neurodevelopment. The aim of this study was to determine the impact of IUGR on excitatory and inhibitory neurons of the fetal neocortex and hippocampus. Fetal brains (n = 2) were first collected from an unoperated pregnant guinea pig at mid-gestation (32 days of gestation [dg]; term ∼67 dg) to visualize excitatory (Ctip2) and inhibitory (calretinin [CR] and somatostatin [SST]) neurons via immunohistochemistry. Chronic placental insufficiency (CPI) was then induced via radial artery ablation at 30 dg in another cohort of pregnant guinea pigs (n = 8) to generate IUGR fetuses (52 dg; n = 8); control fetuses (52 dg; n = 7) were from sham surgeries with no radial artery ablation. At 32 dg, Ctip2- and CR-immunoreactive (IR) cells had populated the cerebral cortex, whereas SST-IR cells had not, suggesting these neurons were yet to complete migration. At 52 dg, in IUGR versus control fetuses, there was a reduction in SST-IR cell density in the cerebral cortex (p = .0175) and hilus of the dentate gyrus (p = .0035) but not the striatum (p > .05). There was no difference between groups in the density of Ctip2-IR (cortex) or CR-IR (cortex, hippocampus) neurons (p > 0.05). Thus, we propose that an imbalance in inhibitory (SST-IR) and excitatory (Ctip2-IR) neurons in the IUGR fetal guinea pig brain could lead to excitatory/inhibitory dysfunction commonly seen in neurodevelopmental disorders such as autism and schizophrenia.

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6. Dai H, Kitami Y, Goto YI, Itoh M. 5-HT(1A) Receptor Agonist Treatment Partially Ameliorates Rett Syndrome Phenotypes in mecp2-Null Mice by Rescuing Impairment of Neuron Transmission and the CREB/BDNF Signaling Pathway. International journal of molecular sciences. 2022; 23(22).

Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by mutations in the gene that encodes methyl CpG-binding protein 2 (MECP2) and is characterized by the loss of acquired motor and language skills, stereotypic movements, respiratory abnormalities and autistic features. There has been no effective treatment for this disorder until now. In this study, we used a Mecp2-null (KO) mouse model of RTT to investigate whether repeated intraperitoneal treatment with the 5-HT(1A) receptor agonist tandospirone could improve the RTT phenotype. The results showed that administration of tandospirone significantly extended the lifespan of Mecp2-KO mice and obviously ameliorated RTT phenotypes, including general condition, hindlimb clasping, gait, tremor and breathing in Mecp2-KO mice. Tandospirone treatment significantly improved the impairment in GABAergic, glutaminergic, dopaminergic and serotoninergic neurotransmission in the brainstem of Mecp2-KO mice. Decreased dopaminergic neurotransmission in the cerebellum of Mecp2-KO mice was also significantly increased by tandospirone treatment. Moreover, RNA-sequencing analysis found that tandospirone modulates the RTT phenotype, partially through the CREB1/BDNF signaling pathway in Mecp2-KO mice. These findings provide a new option for clinical treatment.

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7. Díaz Vargas D, Leonario Rodríguez M. Effectiveness of nutritional interventions on behavioral symptomatology of autism spectrum disorder: a systematic review. Nutricion hospitalaria. 2022.

INTRODUCTION: the main treatment for people with autism spectrum disorder (ASD) corresponds to cognitive behavioral therapy in conjunction with pharmacotherapy. Together they seek to attenuate the behavioral symptoms of these patients, as well as to increase their social functionality. However, other strategies have become popular to achieve the same goal of classical treatment. Particularly, nutritional interventions are positioned above others, and it is necessary to investigate their effectiveness, considering that infants with ASD present a marked food selectivity, as well as gastrointestinal alterations. OBJECTIVE: to evaluate the effectiveness of nutritional interventions in the behavioral symptomatology of infants with ASD. METHODS: a systematic search was carried out in the Scopus and PubMed databases, in Spanish and English. The filters of clinical studies and original articles were used, choosing only nutritional interventions in children under 19 years of age and who had had at least 4 weeks of intervention. RESULTS: evidence was found on gluten- and casein-free diets, ketogenic diet, omega-3 supplementation, prebiotics/probiotics, and vitamins/minerals presenting positive results in most of the articles analyzed; however, the heterogeneity presented requires a greater body of evidence to promote its use. CONCLUSION: the five types of nutritional interventions evaluated show varied evidence that does not allow defining the degree of effectiveness between one or the other in terms of behavioral improvements in the population with ASD.

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8. Ferenc K, Płatos M, Byrka K, Król ME. Looking through rainbow-rimmed glasses: Taking neurodiversity perspective is related to subjective well-being of autistic adults. Autism : the international journal of research and practice. 2022: 13623613221135818.

Autistic adults experience a high level of distress. Finding new ways to support their well-being is an important goal for researchers and clinicians. We assessed the way autistic adults view their autism, as a disorder or as a type of mind (neurodiversity), and the level they integrate with other autistic people, and we checked how those factors contribute to their well-being. People who see autism rather as a type of mind than as a disorder had higher self-esteem. People who view themselves as more similar to other autistic people felt more stressed, but this result was not accurate for people who view autism as a type of mind. Clinicians should be sensitive to the way autistic people understand autism and to what extent they identify with the autism community, because it may relate to their well-being.

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9. Filippova YY, Devyatova EV, Alekseeva AS, Burmistrova AL. Cytokines and neurotrophic factors in the severity assessment of children autism. Klinicheskaia laboratornaia diagnostika. 2022; 67(11): 647-51.

Due to the steady increase in the number of children with autism and the high heterogeneity of clinical groups, the diagnosis of these disorders and their severity is an urgent problem in modern medicine. In the course of the work, 126 children from 3 to 13 years old with typical neurodevelopment and with severe and mild autism spectrum disorders (ASD) were examined. Disease severity was determined according to the Childhood Autism Rating Scale (CARS). The levels of pro-/anti-inflammatory cytokines and neurotrophic factors (nerve growth factor beta and brain-derived neurotrophic factor) in blood plasma were assessed by enzyme immunoassay. Associations between indicators in each group of patients were assessed using the Spearman test and visualized as a heatmap of correlations. Statistical data processing was carried out in the R software. Significantly high levels of IL-4 in blood plasma and a decrease in the number of significant correlations within/between systems were revealed in children with mild autism compared with children with typical neurodevelopment. Such data can probably reflect the theory that some children with ASD are characterized by slow brain development, as a variant of the evolutionary norm. On the contrary, in children with severe ASD, high systemic levels of IL-6 and IFNg are shown against the background of low values of IL-10, IL-1β, TNFα and NGFβ, supported by the almost complete absence of intra/ and intersystem interactions. This may act as an indicator of maladaptation of the immune and nervous systems in severe autism, which contributes to the pathogenesis of the disease. Thus, a set of indicators: high levels of key pro-inflammatory cytokines – IL-6 and IFNg, low levels of IL-10, NGFβ and disintegration of the cytokine and nervous systems in the periphery can be proposed as an approach to indicate the severity of the condition in children with ASD.

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10. Gong L, Guo D, Gao Z, Wei K. Atypical development of social and nonsocial working memory capacity among preschoolers with autism spectrum disorders. Autism research : official journal of the International Society for Autism Research. 2022.

Individuals with autism spectrum disorders (ASD) have shown impaired performance in canonical and nonsocial working memory (WM). However, no study has investigated social WM and its early development. Using biological motion stimuli, our study assessed the development of social and nonsocial WM capacity among children with or without ASD across the age span between 4 and 6 (N = 150). While typically developing (TD) children show a rapid development from age 5 to 6, children with ASD showed a delayed development for both social and nonsocial WM capacity, reaching a significant group difference at age 6. Furthermore, we found a negative correlation between social (but not nonsocial) WM capacity and the severity of autistic symptoms among children with ASD. In contrast, there is a positive correlation between both types of WM capacity and intelligence among TD children but not among children with ASD. Our findings thus indicate that individuals with ASD miss the rapid development of WM capacity in early childhood and, particularly, their delayed social WM development might contribute to core symptoms that critically depend on social information processing.

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11. Gracia-Darder I, Llull Ramos A, Giacaman A, Gómez Bellvert C, Obrador-Hevia A, Jubert Esteve E, Martín-Santiago A. Report of a case of RAVEN, hair heterochromia and autism in the setting of FGFR2 mutation. Pediatric dermatology. 2022.

A newborn presented with extensive rounded and velvety epidermal nevus (RAVEN) with a genetic study of the cutaneous lesions revealing a heterozygous mutation in FGFR2 (p.Cys382Arg). By 2 years of age, the patient developed hair heterochromia and autism spectrum disorder. Although RAVEN was initially associated with fibroblast growth factor 3 (FGFR3) mutations, three cases of RAVEN have been identified with mutations in FGFR2 (p.Ser252Trp) and one case of linear keratinocytic epidermal nevi has been identified with the same mutation as the mutation identified in our patient. This strongly supports the pathogenic role of these mutations.

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12. Hayot G, Massonot M, Keime C, Faure E, Golzio C. Loss of autism-candidate CHD8 perturbs neural crest development and intestinal homeostatic balance. Life science alliance. 2023; 6(1).

Individuals with mutations in CHD8 present with gastrointestinal complaints, yet the underlying mechanisms are understudied. Here, using a stable constitutive chd8 mutant zebrafish model, we found that the loss of chd8 leads to a reduced number of vagal neural crest cells (NCCs), enteric neural and glial progenitors, emigrating from the neural tube, and that their early migration capability was altered. At later stages, although the intestinal colonization by NCCs was complete, we found the decreased numbers of both serotonin-producing enterochromaffin cells and NCC-derived serotonergic neurons, suggesting an intestinal hyposerotonemia in the absence of chd8 Furthermore, transcriptomic analyses revealed an altered expression of key receptors and enzymes in serotonin and acetylcholine signaling pathways. The tissue examination of chd8 mutants revealed a thinner intestinal epithelium accompanied by an accumulation of neutrophils and the decreased numbers of goblet cells and eosinophils. Last, single-cell sequencing of whole intestines showed a global disruption of the immune balance with a perturbed expression of inflammatory interleukins and changes in immune cell clusters. Our findings propose a causal developmental link between chd8, NCC development, intestinal homeostasis, and autism-associated gastrointestinal complaints.

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13. Kilroy E, Gerbella M, Cao L, Molfese P, Butera C, Harrison L, Jayashankar A, Rizzolatti G, Aziz-Zadeh L. Specific tractography differences in autism compared to developmental coordination disorder. Scientific reports. 2022; 12(1): 19246.

About 85% of children with autism spectrum disorder (ASD) experience comorbid motor impairments, making it unclear whether white matter abnormalities previously found in ASD are related to social communication deficits, the hallmark of ASD, or instead related to comorbid motor impairment. Here we aim to understand specific white matter signatures of ASD beyond those related to comorbid motor impairment by comparing youth (aged 8-18) with ASD (n = 22), developmental coordination disorder (DCD; n = 16), and typically developing youth (TD; n = 22). Diffusion weighted imaging was collected and quantitative anisotropy, radial diffusivity, mean diffusivity, and axial diffusivity were compared between the three groups and correlated with social and motor measures. Compared to DCD and TD groups, diffusivity differences were found in the ASD group in the mid-cingulum longitudinal and u-fibers, the corpus callosum forceps minor/anterior commissure, and the left middle cerebellar peduncle. Compared to the TD group, the ASD group had diffusivity differences in the right inferior frontal occipital/extreme capsule and genu of the corpus callosum. These diffusion differences correlated with emotional deficits and/or autism severity. By contrast, children with DCD showed unique abnormality in the left cortico-spinal and cortico-pontine tracts.Trial Registration All data are available on the National Institute of Mental Health Data Archive: https://nda.nih.gov/edit_collection.html?id=2254 .

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14. Krzisch MA, Wu H, Yuan B, Whitfield TW, Liu XS, Fu D, Garrett-Engele CM, Khalil AS, Lungjangwa T, Shih J, Chang AN, Warren S, Cacace A, Andrykovich KR, Rietjens RGJ, Wallace O, Sur M, Jain B, Jaenisch R. Fragile X Syndrome Patient-Derived Neurons Developing in the Mouse Brain Show FMR1-Dependent Phenotypes. Biological psychiatry. 2023; 93(1): 71-81.

BACKGROUND: Fragile X syndrome (FXS) is characterized by physical abnormalities, anxiety, intellectual disability, hyperactivity, autistic behaviors, and seizures. Abnormal neuronal development in FXS is poorly understood. Data on patients with FXS remain scarce, and FXS animal models have failed to yield successful therapies. In vitro models do not fully recapitulate the morphology and function of human neurons. METHODS: To mimic human neuron development in vivo, we coinjected neural precursor cells derived from FXS patient-derived induced pluripotent stem cells and neural precursor cells derived from corrected isogenic control induced pluripotent stem cells into the brain of neonatal immune-deprived mice. RESULTS: The transplanted cells populated the brain and a proportion differentiated into neurons and glial cells. Immunofluorescence and single and bulk RNA sequencing analyses showed accelerated maturation of FXS neurons after an initial delay. Additionally, we found increased percentages of Arc- and Egr-1-positive FXS neurons and wider dendritic protrusions of mature FXS striatal medium spiny neurons. CONCLUSIONS: This transplantation approach provides new insights into the alterations of neuronal development in FXS by facilitating physiological development of cells in a 3-dimensional context.

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15. Lee J, Lee TS, Lee S, Jang J, Yoo S, Choi Y, Park YR. Correction: Development and Application of a Metaverse-Based Social Skills Training Program for Children With Autism Spectrum Disorder to Improve Social Interaction: Protocol for a Randomized Controlled Trial. JMIR research protocols. 2022; 11(11): e43864.

[This corrects the article DOI: 10.2196/35960.].

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16. Malijauskaite S, Sauer AK, Hickey SE, Franzoni M, Grabrucker AM, McGourty K. Identification of the common neurobiological process disturbed in genetic and non-genetic models for autism spectrum disorders. Cellular and molecular life sciences : CMLS. 2022; 79(12): 589.

Autism spectrum disorders (ASD) are neurodevelopmental disorders. Genetic factors, along with non-genetic triggers, have been shown to play a causative role. Despite the various causes, a triad of common symptoms defines individuals with ASD; pervasive social impairments, impaired social communication, and repeated sensory-motor behaviors. Therefore, it can be hypothesized that different genetic and environmental factors converge on a single hypothetical neurobiological process that determines these behaviors. However, the cellular and subcellular signature of this process is, so far, not well understood. Here, we performed a comparative study using « omics » approaches to identify altered proteins and, thereby, biological processes affected in ASD. In this study, we mined publicly available repositories for genetic mouse model data sets, identifying six that were suitable, and compared them with in-house derived proteomics data from prenatal zinc (Zn)-deficient mice, a non-genetic mouse model with ASD-like behavior. Findings derived from these comparisons were further validated using in vitro neuronal cell culture models for ASD. We could show that a protein network, centered on VAMP2, STX1A, RAB3A, CPLX2, and AKAP5, is a key convergence point mediating synaptic vesicle release and recycling, a process affected across all analyzed models. Moreover, we demonstrated that Zn availability has predictable functional effects on synaptic vesicle release in line with the alteration of proteins in this network. In addition, drugs that target kinases, reported to regulate key proteins in this network, similarly impacted the proteins’ levels and distribution. We conclude that altered synaptic stability and plasticity through abnormal synaptic vesicle dynamics and function may be the common neurobiological denominator of the shared behavioral abnormalities in ASD and, therefore, a prime drug target for developing therapeutic strategies.

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17. Naples A, Tenenbaum EJ, Jones RN, Righi G, Sheinkopf SJ, Eigsti IM. Exploring communicative competence in autistic children who are minimally verbal: The Low Verbal Investigatory Survey for Autism (LVIS). Autism : the international journal of research and practice. 2022: 13623613221136657.

Approximately one in three autistic children is unable to communicate with language; this state is often described as minimally verbal. Despite the tremendous clinical implications, we cannot predict whether a minimally verbal child is simply delayed (but will eventually develop spoken language) or will continue to struggle with verbal language, and might therefore benefit from learning an alternative form of communication. This is important for clinicians to know, to be able to choose the most helpful interventions, such as alternative forms of communication. In addition, the field lacks a standard definition of « minimally verbal. » Even when we do agree on what the term means (e.g. fewer than 20 words), describing a child based on their lack of words does not tell us whether that child is communicating in other ways or how they are using those 20 words. To address these concerns, we developed the Low Verbal Investigatory Survey (LVIS), a one-page parent-report measure designed to help us characterize how minimally verbal autistic children are communicating. Parents of 147 children (aged 1-8 years) completed the LVIS. Here, we ask (1) whether the survey measures what it was designed to measure, that is, communicative ability in children without much spoken language, and (2) how the LVIS relates to cognitive and language ability, and symptoms of autism. Results suggest that this survey, which takes only 5 min to complete, is a good estimate of the child’s communication skills. Furthermore, LVIS survey scores are correlated with other measures of language and cognitive abilities as well as autism symptomatology. The LVIS has the potential to save time and money in both clinical and research efforts to assess communication skills in minimally verbal autistic children.

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18. Saggar M, Bruno JL, Hall SS. Brief intensive social gaze training reorganizes functional brain connectivity in boys with fragile X syndrome. Cerebral cortex (New York, NY : 1991). 2022.

Boys with fragile X syndrome (FXS), the leading known genetic cause of autism spectrum disorder (ASD), demonstrate significant impairments in social gaze and associated weaknesses in communication, social interaction, and other areas of adaptive functioning. Little is known, however, concerning the impact of behavioral treatments for these behaviors on functional brain connectivity in this population. As part of a larger study, boys with FXS (mean age 13.23 ± 2.31 years) and comparison boys with ASD (mean age 12.15 ± 2.76 years) received resting-state functional magnetic resonance imaging scans prior to and following social gaze training administered by a trained behavior therapist in our laboratory. Network-agnostic connectome-based predictive modeling of pretreatment resting-state functional connectivity data revealed a set of positive (FXS > ASD) and negative (FXS < ASD) edges that differentiated the groups significantly and consistently across all folds of cross-validation. Following administration of the brief training, the FXS and ASD groups demonstrated reorganization of connectivity differences. The divergence in the spatial pattern of reorganization response, based on functional connectivity differences pretreatment, suggests a unique pattern of response to treatment in the FXS and ASD groups. These results provide further support for implementing targeted behavioral treatments to ameliorate syndrome-specific behavioral features in FXS.

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19. Trivedi P, Pandey M, Kumar Rai P, Singh P, Srivastava P. A meta-analysis of differentially expressed and regulatory genes with their functional enrichment analysis for brain transcriptome data in autism spectrum disorder. Journal of biomolecular structure & dynamics. 2022: 1-7.

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by persistent challenges in social interactions and repetitive behavioral patterns. It is a significant problem emerging worldwide, as one in 100 children is affected by this disorder globally. In this study, a meta-analysis was performed for the identification of differentially expressed genes (DEGs) along with the expression analysis of regulatory genes. Functional enrichment analysis was an integral part of current findings to notify the significant pathways of this complex disorder. The study was conducted with two RNA-Seq datasets, viz., GSE64018 and GSE62098, for ASD patients and control samples from the GEO database. The identification of up-regulatory and down-regulatory genes was performed by the interaction analysis of transcription factors (TF) and DEGs. As an outcome of the meta-analysis, 2543 DEGs were identified as common across both of the datasets in which 1402 DEGs exhibited upregulation and 1130 genes have shown downregulation. In network analysis, upregulatory genes have shown strong interaction while downregulatory genes exhibit weak or null interaction. Further, in the enrichment analysis of screened upregulatory DEGs, three major significant pathways were identified namely the ATP synthesis pathway, FAS signaling pathway, and the Huntington’s disease pathway. The common expression of CYC 1 gene in all the identified pathways has indicated that it is an important key regulator gene for the majorly associated pathways. The study concludes that all the potential DEGs were found to show their related high expression in neurobiological regulations specifically with ASD.Communicated by Ramaswamy S. Sarma.

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20. Velani B, Sawhney I, Alexander RT, Shardlow S, Zia A. Implementing proposed reforms of the Mental Health Act for people with intellectual disability and autism: the perspective of multidisciplinary professionals in intellectual disability teams. BJPsych open. 2022; 8(6): e197.

BACKGROUND: A recent government white paper sets out proposals for reforms to the Mental Health Act 1983 (MHA). Some of these proposals affect people with intellectual disabilities and/or autism. AIMS: To explore both positive and unintended negative effects of the proposed reforms by gathering the perspectives of healthcare workers from multiple disciplines, working with intellectual disability and/or autism in community and in-patient settings. METHOD: A 14-question electronic questionnaire, comprising free-text, multiple choice and five-point Likert scale responses, was sent out via email between April and July 2021, to all multidisciplinary team professionals working in specialist intellectual disability community and in-patient teams in Hertfordshire Partnership University NHS Foundation Trust. RESULTS: There were 45 responders, of whom 53% worked in in-patient settings and 47% in out-patient teams. Respondents comprised healthcare professionals from multiple disciplines, 80% of which were non-medical. Most responders agreed with the general principles of the proposed reforms. However, 80% felt there would be potentially unintended consequences, and 76% thought that substantial investment in community services was required in advance of the proposed reforms. CONCLUSIONS: The proposed MHA reforms may have unintended consequences for people with intellectual disabilities and/or autism. The findings of this study raised key concerns that need to be explored further and addressed before the MHA reforms are implemented. These include community provision, safeguards and use of the Mental Capacity Act, the potential for under or overdiagnosis of mental illness, and effects associated with the criminal justice system.

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21. Wilson AC, Gunn S. What parents want in an autism diagnostic report: An interview-based study of parents accessing a neurodevelopmental assessment service. Clinical child psychology and psychiatry. 2022: 13591045221138703.

Diagnostic reports are a key outcome of autism assessment services. However, there is limited evidence regarding what key stakeholders, including families, want to see in reports. In this project, 30 parents whose young person had recently received a diagnosis of autism from a Neurodevelopmental Assessment Service in the North East of England took part in a telephone-based interview to explore what they want from a report. Interviews were analysed using thematic analysis. Ten key recommendations for reports were identified. Parents indicated that they want a detailed, balanced, sensitively written report. They highlighted that reports needed to be accessible and clearly structured. In this respect, it might be helpful to include a parent-driven summary of key points at the top, clear signposting of the structure of the report, and a description of what happened in the assessment process. Parents also valued practical, personalised recommendations based on the young person’s strengths and difficulties. Future research might explore perspectives on reports in families accessing other services, in other client groups (e.g., families of pre-schoolers diagnosed with autism), and with different stakeholders, including schools, referrers and autistic people.

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22. Wilson RB, Thompson AR, Rowse G, Smith R, Dugdale AS, Freeth M. Autistic women’s experiences of self-compassion after receiving their diagnosis in adulthood. Autism : the international journal of research and practice. 2022: 13623613221136752.

Knowledge of autistic individuals’ experiences of self-compassion is very limited. This study investigated autistic women’s experiences of self-compassion after receiving their diagnosis in adulthood. Eleven autistic women were interviewed about their experiences of receiving their diagnosis in adulthood and their experiences of self-compassion. Systematic analysis of the interview transcripts revealed common themes in the participants’ experiences. Participants reported that their autism diagnosis helped them to better understand themselves, particularly when reflecting on problematic past experiences. After receiving an autism diagnosis, participants described being able to relate to themselves with greater self-kindness compared to previous self-criticism; this included allowing themselves to assert their needs and engage in self-care activities. Participants spoke about having difficult social experiences, including feeling pressure to conform to expectations in society and often feeling misunderstood. The findings highlight the barriers autistic women face obtaining their diagnoses and demonstrate the need for autism training for professionals to support early identification. Findings from this study suggest that interventions aimed at developing self-compassion could support and enhance autistic women’s well-being.

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23. Yang K, Cheng C, Yuan Y, Zhang Y, Shan S, Qiu Z. Extension of the Lifespan of a Mouse Model of Rett Syndrome by Intracerebroventricular Delivery of MECP2. Neuroscience bulletin. 2022.

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