1. Bagnall-Moreau C, Spielman B, Brimberg L. Maternal brain reactive antibodies profile in autism spectrum disorder: an update. Transl Psychiatry;2023 (Feb 3);13(1):37.

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder with multifactorial etiologies involving both genetic and environmental factors. In the past two decades it has become clear that in utero exposure to toxins, inflammation, microbiome, and antibodies (Abs), may play a role in the etiology of ASD. Maternal brain-reactive Abs, present in 10-20% of mothers of a child with ASD, pose a potential risk to the developing brain because they can gain access to the brain during gestation, altering brain development during a critical period. Different maternal anti-brain Abs have been associated with ASD and have been suggested to bind extracellular or intracellular neuronal antigens. Clinical data from various cohorts support the increase in prevalence of such maternal brain-reactive Abs in mothers of a child with ASD compared to mothers of a typically developing child. Animal models of both non-human primates and rodents have provided compelling evidence supporting a pathogenic role of these Abs. In this review we summarize the data from clinical and animal models addressing the role of pathogenic maternal Abs in ASD. We propose that maternal brain-reactive Abs are an overlooked and promising field of research, representing a modifiable risk factor that may account for up to 20% of cases of ASD. More studies are needed to better characterize the Abs that contribute to the risk of having a child with ASD, to understand whether we can we predict such cases of ASD, and to better pinpoint the antigenic specificity of these Abs and their mechanisms of pathogenicity.

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2. Baykal S, Mutlu C. Aripiprazole Used to Treat Capgras Syndrome in an Adolescent Diagnosed With Autism. Clin Neuropharmacol;2022 (Dec 27)

OBJECTIVES: This report discusses the emergence, clinical appearance, and treatment of the rare entity Capgras syndrome (CS) in an adolescent diagnosed with autism. METHODS: After a brief introduction to the CS, we conduct a detailed description of the case and review, after a search on the PubMed database, the known pathophysiology, psychiatric disorders associated with the onset of this syndrome, and the management of CS. RESULTS: Capgras syndrome generally emerges during the course of delusional disorder, schizophrenia, or mood disorders, and for reasons such as neurological, infectious, or endocrinological diseases, drug intoxications, or deprivation. We encountered no previous reports of CS developing during the course of autism. There are no prospective studies concerning the treatment of the syndrome. However, antipsychotic drug use is primarily recommended in treatment. Antipsychotic drug therapy was therefore planned for the treatment of delusion, a psychotic symptom, in this case. The atypical antipsychotic aripiprazole was used based on the presence of accompanying diagnosis of autism, and the patient’s body mass index and age. A relatively high dose of aripiprazole was required for the first psychotic attack in our patient. However, a good level of response was achieved within the expected time frame. In addition, no marked adverse effects were observed. CONCLUSIONS: Aripiprazole seems to be an effective and well-tolerated antipsychotic drug in the treatment of CS accompanying autism.

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3. Chang JC, Lai MC, Chien YL, Cheng CY, Wu YY, Gau SS. Psychometric properties of the Mandarin version of the autism diagnostic observation Schedule-Generic. J Formos Med Assoc;2023 (Jan 31)

BACKGROUND/PURPOSE: The diagnosis of autism spectrum disorder (ASD), involving multiple components of clinical assessments, is challenging. The Autism Diagnostic Observation Schedule-Generic (ADOS-G), one of the standardized and validated instruments for ASD diagnostic evaluation, has been widely used in many countries. With the preparation of the Mandarin version of the ADOS-G (Mandarin-ADOS-G), this study aims to examine its psychometric properties, including reliability and validity. METHODS: The sample included 554 individuals clinically diagnosed with ASD (477 males, 86.1%) and 50 typically developing (TD) individuals (29 males, 58.0%) who were assessed with different modules of the Mandarin-ADOS-G between 4.1 and 34.0 years old with a mean age of 13.0 years (Module 1, n = 40; Module 2, n = 46; Module 3, n = 275; Module 4, n = 243). We evaluated the inter-rater reliability, test-retest reliability, internal consistency, and concurrent validity with the Chinese Autism Diagnostic Interview-Revised (ADI-R) and Social Responsiveness Scale (SRS) caregiver-report and self-report forms. The discriminative validity of Mandarin-ADOS-G was also examined. RESULTS: The Mandarin-ADOS-G demonstrated good inter-rater reliability (agreement of ADOS classification 0.91), good test-retest reliability (intraclass correlations 0.55-0.73), and low to high good internal consistency (Cronbach’s alpha 0.27-0.86). The concurrent validity showed significant correlations with ADI-R (Pearson correlations 0.22-0.37) and the SRS caregiver-report form (Pearson correlations 0.15-0.23). Moreover, all Mandarin-ADOS-G domains successfully differentiated autistic individuals from TD individuals (all p-values <0.001). CONCLUSION: The Mandarin-ADOS-G is a reliable and valid instrument for assisting the diagnosis of ASD in the Mandarin-speaking population.

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4. Clark PG, Ansello EF, Helm F, Tanzer R. Growing older with intellectual and developmental disabilities: implementing and evaluating a project ECHO for dementia education. Gerontol Geriatr Educ;2023 (Feb 1):1-17.

The needs of the rapidly expanding population of adults growing older with intellectual and developmental disabilities (IDD) and their families span both the IDD and the aging service systems. The use of Project ECHO (Extension for Community Healthcare Outcomes) for professional education can bridge gaps and span boundaries between them at the macro, meso, and micro levels. A series of 10 ECHO sessions over 12 months was developed, incorporating key content on IDD and AD/ADRD for 145 providers in over 20 agencies. Impacts were assessed by a follow-up survey sent to participants after each program. The evaluation included quantitative assessment of ECHO features and a retrospective pre- and posttest of knowledge acquisition; a separate item assessed intention to apply information. Qualitative data were collected from open-ended items. The case presentation and discussion were the most effective ECHO components. Knowledge acquisition was significant for all sessions; most important uses included providing better care to clients/patients, training staff, and educating family and/or caregivers. Participants were aligned with two distinct groups, one with a predominant knowledge focus, the other with an emphasis on networking. Project ECHO can bridge gaps and span boundaries between the IDD and aging care systems at multiple levels, improving interprofessional collaboration and care by addressing both knowledge and networking needs of providers.

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5. Corominas R, Yang X, Lin GN, Kang S, Shen Y, Ghamsari L, Broly M, Rodriguez M, Tam S, Wanamaker SA, Fan C, Yi S, Tasan M, Lemmens I, Kuang X, Zhao N, Malhotra D, Michaelson JJ, Vacic V, Calderwood MA, Roth FP, Tavernier J, Horvath S, Salehi-Ashtiani K, Korkin D, Sebat J, Hill DE, Hao T, Vidal M, Iakoucheva LM. Author Correction: Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. Nat Commun;2023 (Feb 2);14(1):569.

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6. Dunham K, Zoltowski A, Feldman JI, Davis S, Rogers B, Failla MD, Wallace MT, Cascio CJ, Woynaroski TG. Neural Correlates of Audiovisual Speech Processing in Autistic and Non-Autistic Youth. Multisens Res;2023 (Jan 19):1-26.

Autistic youth demonstrate differences in processing multisensory information, particularly in temporal processing of multisensory speech. Extensive research has identified several key brain regions for multisensory speech processing in non-autistic adults, including the superior temporal sulcus (STS) and insula, but it is unclear to what extent these regions are involved in temporal processing of multisensory speech in autistic youth. As a first step in exploring the neural substrates of multisensory temporal processing in this clinical population, we employed functional magnetic resonance imaging (fMRI) with a simultaneity-judgment audiovisual speech task. Eighteen autistic youth and a comparison group of 20 non-autistic youth matched on chronological age, biological sex, and gender participated. Results extend prior findings from studies of non-autistic adults, with non-autistic youth demonstrating responses in several similar regions as previously implicated in adult temporal processing of multisensory speech. Autistic youth demonstrated responses in fewer of the multisensory regions identified in adult studies; responses were limited to visual and motor cortices. Group responses in the middle temporal gyrus significantly interacted with age; younger autistic individuals showed reduced MTG responses whereas older individuals showed comparable MTG responses relative to non-autistic controls. Across groups, responses in the precuneus covaried with task accuracy, and anterior temporal and insula responses covaried with nonverbal IQ. These preliminary findings suggest possible differences in neural mechanisms of audiovisual processing in autistic youth while highlighting the need to consider participant characteristics in future, larger-scale studies exploring the neural basis of multisensory function in autism.

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7. Engelhard MM, Henao R, Berchuck SI, Chen J, Eichner B, Herkert D, Kollins SH, Olson A, Perrin EM, Rogers U, Sullivan C, Zhu Y, Sapiro G, Dawson G. Predictive Value of Early Autism Detection Models Based on Electronic Health Record Data Collected Before Age 1 Year. JAMA Netw Open;2023 (Feb 1);6(2):e2254303.

IMPORTANCE: Autism detection early in childhood is critical to ensure that autistic children and their families have access to early behavioral support. Early correlates of autism documented in electronic health records (EHRs) during routine care could allow passive, predictive model-based monitoring to improve the accuracy of early detection. OBJECTIVE: To quantify the predictive value of early autism detection models based on EHR data collected before age 1 year. DESIGN, SETTING, AND PARTICIPANTS: This retrospective diagnostic study used EHR data from children seen within the Duke University Health System before age 30 days between January 2006 and December 2020. These data were used to train and evaluate L2-regularized Cox proportional hazards models predicting later autism diagnosis based on data collected from birth up to the time of prediction (ages 30-360 days). Statistical analyses were performed between August 1, 2020, and April 1, 2022. MAIN OUTCOMES AND MEASURES: Prediction performance was quantified in terms of sensitivity, specificity, and positive predictive value (PPV) at clinically relevant model operating thresholds. RESULTS: Data from 45 080 children, including 924 (1.5%) meeting autism criteria, were included in this study. Model-based autism detection at age 30 days achieved 45.5% sensitivity and 23.0% PPV at 90.0% specificity. Detection by age 360 days achieved 59.8% sensitivity and 17.6% PPV at 81.5% specificity and 38.8% sensitivity and 31.0% PPV at 94.3% specificity. CONCLUSIONS AND RELEVANCE: In this diagnostic study of an autism screening test, EHR-based autism detection achieved clinically meaningful accuracy by age 30 days, improving by age 1 year. This automated approach could be integrated with caregiver surveys to improve the accuracy of early autism screening.

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8. Feldman JI, Tu A, Conrad JG, Kuang W, Santapuram P, Woynaroski TG. The Impact of Singing on Visual and Multisensory Speech Perception in Children on the Autism Spectrum. Multisens Res;2022 (Dec 30);36(1):57-74.

Autistic children show reduced multisensory integration of audiovisual speech stimuli in response to the McGurk illusion. Previously, it has been shown that adults can integrate sung McGurk tokens. These sung speech tokens offer more salient visual and auditory cues, in comparison to the spoken tokens, which may increase the identification and integration of visual speech cues in autistic children. Forty participants (20 autism, 20 non-autistic peers) aged 7-14 completed the study. Participants were presented with speech tokens in four modalities: auditory-only, visual-only, congruent audiovisual, and incongruent audiovisual (i.e., McGurk; auditory ‘ba’ and visual ‘ga’). Tokens were also presented in two formats: spoken and sung. Participants indicated what they perceived via a four-button response box (i.e., ‘ba’, ‘ga’, ‘da’, or ‘tha’). Accuracies and perception of the McGurk illusion were calculated for each modality and format. Analysis of visual-only identification indicated a significant main effect of format, whereby participants were more accurate in sung versus spoken trials, but no significant main effect of group or interaction effect. Analysis of the McGurk trials indicated no significant main effect of format or group and no significant interaction effect. Sung speech tokens improved identification of visual speech cues, but did not boost the integration of visual cues with heard speech across groups. Additional work is needed to determine what properties of spoken speech contributed to the observed improvement in visual accuracy and to evaluate whether more prolonged exposure to sung speech may yield effects on multisensory integration.

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9. Garrido-Torres N, Guzmán-Torres K, García-Cerro S, Pinilla Bermúdez G, Cruz-Baquero C, Ochoa H, García-González D, Canal-Rivero M, Crespo-Facorro B, Ruiz-Veguilla M. miRNAs as biomarkers of autism spectrum disorder: a systematic review and meta-analysis. Eur Child Adolesc Psychiatry;2023 (Feb 3)

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with complex clinical manifestations that arise between 18 and 36 months of age. Social interaction deficiencies, a restricted range of interests, and repetitive stereotyped behaviors are characteristics which are sometimes difficult to detect early. Several studies show that microRNAs (miRs/miRNAs) are strongly implicated in the development of the disorder and affect the expression of genes related to different neurological pathways involved in ASD. The present systematic review and meta-analysis addresses the current status of miRNA studies in different body fluids and the most frequently dysregulated miRNAs in patients with ASD. We used a combined approach to summarize miRNA fold changes in different studies using the mean values. In addition, we summarized p values for differential miRNA expression using the Fisher method. Our literature search yielded a total of 133 relevant articles, 27 of which were selected for qualitative analysis based on the inclusion and exclusion criteria, and 16 studies evaluating miRNAs whose data were completely reported were ultimately included in the meta-analysis. The most frequently dysregulated miRNAs across the analyzed studies were miR-451a, miR-144-3p, miR-23b, miR-106b, miR150-5p, miR320a, miR92a-2-5p, and miR486-3p. Among the most dysregulated miRNAs in individuals with ASD, miR-451a is the most relevant to clinical practice and is associated with impaired social interaction. Other miRNAs, including miR19a-3p, miR-494, miR-142-3p, miR-3687, and miR-27a-3p, are differentially expressed in various tissues and body fluids of patients with ASD. Therefore, all these miRNAs can be considered candidates for ASD biomarkers. Saliva may be the optimal biological fluid for miRNA measurements, because it is easy to collect from children compared to other biological fluids.

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10. Hoffman T, Bar-Shalita T, Granovsky Y, Gal E, Kalingel-Levi M, Dori Y, Buxbaum C, Yarovinsky N, Weissman-Fogel I. Indifference or hypersensitivity? Solving the riddle of the pain profile in individuals with autism. Pain;2022 (Aug 26)

Excitatory-inhibitory (E/I) imbalance is a mechanism that underlies autism spectrum disorder, but it is not systematically tested for pain processing. We hypothesized that the pain modulation profile (PMP) in autistic individuals is characterized by less efficient inhibitory processes together with a facilitative state, indicative of a pronociceptive PMP. Fifty-two adults diagnosed with autism and 52 healthy subjects, age matched and sex matched, underwent quantitative sensory testing to assess the function of the (1) pain facilitatory responses to phasic, repetitive, and tonic heat pain stimuli and (2) pain inhibitory processes of habituation and conditioned pain modulation. Anxiety, pain catastrophizing, sensory, and pain sensitivity were self-reported. The autistic group reported significantly higher pain ratings of suprathreshold single (P = 0.001), repetitive (46°C- P = 0.018; 49°C- P = 0.003; 52°C- P < 0.001), and tonic (P = 0.013) heat stimuli that were cross correlated (r = 0.48-0.83; P < 0.001) and associated with sensitivity to daily life pain situations (r = 0.39-0.45; P < 0.005) but not with psychological distress levels. Hypersensitivity to experimental pain was attributed to greater autism severity and sensory hypersensitivity to daily stimuli. Subjects with autism efficiently inhibited phasic but not tonic heat stimuli during conditioned pain modulation. In conclusion, in line with the E/I imbalance mechanism, autism is associated with a pronociceptive PMP expressed by hypersensitivity to daily stimuli and experimental pain and less-efficient inhibition of tonic pain. The latter is an experimental pain model resembling clinical pain. These results challenge the widely held belief that individuals with autism are indifferent to pain and should raise caregivers' awareness of pain sensitivity in autism.

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11. Hsiao JH, An J, Hui VKS, Zheng Y, Chan AB. Author Correction: Understanding the role of eye movement consistency in face recognition and autism through integrating deep neural networks and hidden Markov models. NPJ Sci Learn;2023 (Feb 3);8(1):5.

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12. Jones M, Milbourn B, Falkmer M, Tan T, Bölte S, Girdler S. Strength-based technology clubs for autistic adolescents: A feasibility study. PLoS One;2023;18(2):e0278104.

Strength-based technology clubs are thought to help autistic adolescents transition to adulthood by developing positive traits, enhancing technical skills, and creating supportive networks. A newly developed strength-based technology club was delivered to 25 autistic adolescents, with the feasibility tested via qualitative and quantitative methods. Autistic adolescents, their parents, and club facilitators participated in separate focus groups, with audio data transcribed and thematically analyzed. Quantitative data was collected via adolescent and parent-reported pretest-posttest measures following the 15-week program. Autistic adolescents were highly satisfied with the club (acceptability), the technology club satisfied an unmet need (demand), with the program demonstrating the potential to be integrated into the current therapy system in Australia (integration). Feasibility areas that could be improved in delivering future clubs are discussed.

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13. Kim C, Kim MS, Noh ES, Bae GY, Jang JH, Lee SM, Cho SY, Lee J, Jin DK. A Korean boy with a CHD8 mutation who presented with overgrowth, intellectual disability, and autism. Ann Pediatr Endocrinol Metab;2023 (Feb 1)

The CHD8 mutation was initially identified as the cause of autism spectrum disorder (ASD) and was previously marked as Autism, susceptibility to, 18 [MIM 615032] on Online Mendelian Inheritance in Man (OMIM). As many patients with CHD8 mutation showed other characteristics along with autism, the phenotype was relabeled as intellectual developmental disorder with autism and macrocephaly (IDDAM) in May 2022. We report a 3-year 10-month-old boy who presented with overgrowth, intellectual disability, dysmorphic facial features, and ASD. Targeted exome sequencing identified a heterozygous nonsense mutation c.2854C>T (p.Arg952Ter) in CHD8, and he was diagnosed with IDDAM. Overgrowth patients with dysmorphic face and/or developmental delay should be investigated for genetic causes. Such causes have been reported in about 50% of patients diagnosed with overgrowth with intellectual disability. Our case suggests that CHD8 genetic testing should be included if overgrowth, intellectual disability, and ASD coexist.

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14. Landau-Taylor J, McGivney C, Christiansen A. Access to Care After Autism Diagnosis During the COVID-19 Pandemic: A Quality Improvement Project. J Dev Behav Pediatr;2022 (Dec 16)

OBJECTIVE: The aim of this study was to identify barriers and improve access to services for children diagnosed with autism spectrum disorder (ASD) during the COVID-19 pandemic. METHODS: Sixty-two patients diagnosed with ASD between March 23 and June 30, 2020, at a large urban safety net hospital were identified by chart review. Patients were called from January to March 2021 and queried regarding access to services. Brief interventions were provided as part of a modified Plan-Do-Study-Act approach. A second chart review was conducted between April and May 2021 to determine whether families accessed any additional services. RESULTS: At the time of initial evaluation, 12 patients (19%) had been able to access all recommended services, 32 (52%) had been able to access some recommended services, and 9 (15%) were not able to access any services. Service levels for 9 families (15%) were undetermined. Sixteen patients (26%) lacked any follow-up with their developmental behavioral pediatrician since their initial evaluation. Thirty patients (48%) reported changes to their individualized educational program or early intervention services, and 17 patients (27%) were receiving in-home applied behavior analysis. After the brief intervention, 13 patients had accessed new services, and 9 patients previously lost to follow-up had completed an appointment. CONCLUSION: Patients diagnosed with ASD in the spring of 2020 had significant difficulty accessing community services. The transition to telemedicine exacerbated this hospital’s difficulty contacting patients for follow-up. Additional research is needed to fully characterize the disruptions to services experienced by patients diagnosed with ASD during the pandemic and to increase accessibility and equity of care.

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15. Leung FYN, Stojanovik V, Micai M, Jiang C, Liu F. Emotion recognition in autism spectrum disorder across age groups: A cross-sectional investigation of various visual and auditory communicative domains. Autism Res;2023 (Feb 2)

Previous research on emotion processing in autism spectrum disorder (ASD) has predominantly focused on human faces and speech prosody, with little attention paid to other domains such as nonhuman faces and music. In addition, emotion processing in different domains was often examined in separate studies, making it challenging to evaluate whether emotion recognition difficulties in ASD generalize across domains and age cohorts. The present study investigated: (i) the recognition of basic emotions (angry, scared, happy, and sad) across four domains (human faces, face-like objects, speech prosody, and song) in 38 autistic and 38 neurotypical (NT) children, adolescents, and adults in a forced-choice labeling task, and (ii) the impact of pitch and visual processing profiles on this ability. Results showed similar recognition accuracy between the ASD and NT groups across age groups for all domains and emotion types, although processing speed was slower in the ASD compared to the NT group. Age-related differences were seen in both groups, which varied by emotion, domain, and performance index. Visual processing style was associated with facial emotion recognition speed and pitch perception ability with auditory emotion recognition in the NT group but not in the ASD group. These findings suggest that autistic individuals may employ different emotion processing strategies compared to NT individuals, and that emotion recognition difficulties as manifested by slower response times may result from a generalized, rather than a domain-specific underlying mechanism that governs emotion recognition processes across domains in ASD.

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16. Lord C, Bishop S. A first step in open-source measures of autism symptoms: Promises to keep. Dev Med Child Neurol;2023 (Feb 2)

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17. Oates M, Bean A. Intersecting effects of sex/gender and autism on structural language: A scoping review. Autism;2023 (Feb 3):13623613221151095.

Research about autism is mostly about boys and men, even though many autistic people are girls, women, and transgender/nonbinary. We wanted to learn more about how gender interacts with language skills in autistic people, so we reviewed existing research articles on this topic. We also wanted to know how this previous research talked about gender. Included articles had to measure language skills for autistic people of different genders. They also had to be published between 2000 and 2021. Twenty-four articles met these requirements. We found that autistic girls showed better language skills than autistic boys but worse skills than nonautistic girls. This may be one reason that autistic girls are underdiagnosed compared to autistic boys. If we compare autistic girls to nonautistic girls instead, we can see more language differences and possible areas to target in interventions. This study supports the need to create diagnostic and support measures for autism that take gender into account. Also, only one article mentioned autistic people who are transgender or nonbinary. Researchers who want to learn more about gender and autism need to understand gender diversity and recognize that many autistic people are transgender or nonbinary.

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18. Perochon S, Matias Di Martino J, Carpenter KLH, Compton S, Davis N, Espinosa S, Franz L, Rieder AD, Sullivan C, Sapiro G, Dawson G. A tablet-based game for the assessment of visual motor skills in autistic children. NPJ Digit Med;2023 (Feb 3);6(1):17.

Increasing evidence suggests that early motor impairments are a common feature of autism. Thus, scalable, quantitative methods for measuring motor behavior in young autistic children are needed. This work presents an engaging and scalable assessment of visual-motor abilities based on a bubble-popping game administered on a tablet. Participants are 233 children ranging from 1.5 to 10 years of age (147 neurotypical children and 86 children diagnosed with autism spectrum disorder [autistic], of which 32 are also diagnosed with co-occurring attention-deficit/hyperactivity disorder [autistic+ADHD]). Computer vision analyses are used to extract several game-based touch features, which are compared across autistic, autistic+ADHD, and neurotypical participants. Results show that younger (1.5-3 years) autistic children pop the bubbles at a lower rate, and their ability to touch the bubble’s center is less accurate compared to neurotypical children. When they pop a bubble, their finger lingers for a longer period, and they show more variability in their performance. In older children (3-10-years), consistent with previous research, the presence of co-occurring ADHD is associated with greater motor impairment, reflected in lower accuracy and more variable performance. Several motor features are correlated with standardized assessments of fine motor and cognitive abilities, as evaluated by an independent clinical assessment. These results highlight the potential of touch-based games as an efficient and scalable approach for assessing children’s visual-motor skills, which can be part of a broader screening tool for identifying early signs associated with autism.

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19. Rafiei M, Nakhostin-Ansari A, Meshkat S, Khosravi A, Memari AH. Public awareness and stigma of autism spectrum disorder in Iran; An online survey. Res Dev Disabil;2023 (Jan 31);134:104441.

BACKGROUND: There is no systematic examination of the Iranian general population’s knowledge of autism spectrum disorders (ASD). AIM: In this study, we aimed to assess stigma and knowledge about ASD among Iranian people and determine the sociodemographic factors associated with them. METHODS AND PROCEDURES: This study was conducted as a cross-sectional online survey from April to May 2020, using a convenience sampling method. We designed an online questionnaire using Google forms. We sent a message explaining the study goals and the link to the online questionnaire to groups on popular social platforms in Iran. We used Autism Stigma and Knowledge Questionnaire (ASK-Q) to assess ASD knowledge and stigma. OUTCOMES AND RESULTS: In total, 600 individuals participated in the study, of whom 301 (50.2 %) were women and 299 (49.8 %) were men. Out of 600 participants, 216 (36 %) had adequate knowledge of the diagnosis/symptoms subscale, 206 (34.3 %) for the etiology subscale, 200 (33.3 %) for the treatment subscale, and 260 (43.4 %) had no stigma toward ASD. CONCLUSIONS AND IMPLICATIONS: The level of knowledge about ASD is insufficient among Iranian people of this study. People with lower knowledge of ASD, including older adults and individuals with lower educational levels, may benefit the most from ASD awareness interventions.

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20. Roy M, Strate P. Autism Spectrum Disorders in Adulthood—Symptoms, Diagnosis, and Treatment. Dtsch Arztebl Int;2023 (Feb 3)(Forthcoming)

BACKGROUND: The negative effect of autism spectrum disorders (ASD) persists into adulthood, with impacts on social interactions and occupational development. This article reviews the current status of clinical aspects of ASD in adulthood on the basis of ICD-11. METHODS: A selective search of PubMed and other relevant publications on ASD focused on changes in ICD-11 and on prevalence, symptoms, diagnosis, treatment, and prognosis. RESULTS: The global lifetime prevalence of ASD is around 1%. A number of recent studies have concentrated on behaviors termed « camouflaging » (disguising symptoms typical of autism) and « stimming » (use of repetitive self-stimulation), which affect the mental health of those concerned. Standardized diagnostic instruments are available, but the data on validity in adulthood and on applicability are limited. Gestures, eye contact, facial expressions, social closeness, and reciprocity play particularly important roles in diagnosis. German-language treatment manuals lack randomized controlled studies: a validated treatment strategy is currently available only in English. Investigation of the prognosis showed limitation of occupational perspectives (54% unemployment in the study sample) and 2.9 times higher mortality compared to the general population. CONCLUSION: Individual treatment goals should be set, taking account of any coexisting psychiatric disorders. The process of diagnosis remains clinical, using standardized instruments. Further improvement of diagnostic and therapeutic instruments for adult ASD is desirable.

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21. Shimizu H, Hohjoh H. FMRP, FXR1 protein and Dlg4 mRNA, which are associated with fragile X syndrome, are involved in the ubiquitin-proteasome system. Sci Rep;2023 (Feb 2);13(1):1956.

The ubiquitin-proteasome system (UPS) is a proteolytic pathway that is essential for life maintenance and vital functions, and its disruption causes serious impairments, e.g., disease development. Thus, the UPS is properly regulated. Here we show novel UPS-related factors: the fragile X mental retardation 1 (FMR1) and Fmr1 autosomal homolog 1 (FXR1) proteins and discs large MAGUK scaffold protein 4 (Dlg4) mRNA, which are associated with Fragile X syndrome, are involved in UPS activity. Fmr1-, Fxr1- and Dlg4-knockdown and Fmr1- and Fxr1-knockdown resulted in increased ubiquitination and proteasome activity, respectively. FXR1 protein was further confirmed to be associated with proteasomes, and Dlg4 mRNA itself was found to be involved in the UPS. Knockdown of these genes also affected neurite outgrowth. These findings provide new insights into the regulatory mechanism of the UPS and into the interpretation of the pathogenesis of diseases in which these genes are involved as UPS-related factors.

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