Pubmed du 18/02/25
1. Aldosiry N. Support and services targeting young adults with intellectual and developmental disabilities and their families in Saudi Arabia. Acta Psychol (Amst). 2025; 254: 104813.
BACKGROUND: Individuals with intellectual and developmental disabilities (IDD) require appropriate and adequate services and support to maximize their skills, live independently, and participate in a community. When they receive adequate care and family support, individuals with IDD can potentially live at home instead of availing themselves of alternative care, particularly institutional care. OBJECTIVE: This national study examines the social support and services available to both young adults with IDD and their families in Saudi Arabia, perceived individual outcomes, and satisfaction with the currently available services. METHOD: This study adopted a cross-sectional survey approach, collecting data from 783 families of young adults with IDD aged 16-25 years. RESULTS: Respondents revealed low availability of 19 types of services and support, particularly respite care and transition services. Further, outcomes associated with existing services were perceived to be low, particularly their ability to make choices and decisions. Most respondents were also dissatisfied with different service aspects. In particular, they reported low levels of satisfaction with service coordination, availability of choice, and quality. A strong positive relationship was found between service availability and individual outcomes. Additionally, the availability of self-determination training services was associated with decision-making as an outcome; friendship and relationship outcomes were correlated with participation in community activities; and service quality was moderately positively related to service choices. CONCLUSIONS: This study reveals the inadequacy of service availability and highlights the perceptions of low levels of individual outcomes and service satisfaction. Therefore, services targeting individuals with IDD and their families require considerable improvement.
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2. Bardoni B, Gwizdek C, Maurin T. How close are we to a cAMP- and cGMP-theory-based pharmacological therapy for fragile X syndrome?. Cell Rep Med. 2025; 6(2): 101972.
Recent advances in targeting cAMP and cGMP pathways offer hope for treating fragile X syndrome, a leading cause of inherited intellectual disability. PDE4 and PDE2 inhibitors have shown promise in animal models, improving memory, social behavior, and cognitive function. Clinical trials are underway, raising optimism for future therapies.
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3. Baron A, Harwood V, Woodard C, Anderson K, Fernandes B, Sullivan J, Irwin J. Using the Listening2Faces App with Three Young Adults with Autism: A Feasibility Study. Adv Neurodev Disord. 2025; 9(1): 51-63.
OBJECTIVES: Listening2Faces (L2F) is a therapeutic, application-based training program designed to improve audiovisual speech perception for persons with communication disorders. The purpose of this research was to investigate the feasibility of using the L2F application with young adults with autism and complex communication needs. METHODS: Three young adults with autism and complex communication needs completed baseline assessments and participated in training sessions within the L2F application. Behavioral supports, including the use of cognitive picture rehearsal, were used to support engagement with the L2F application. Descriptive statistics were used to provide (1) an overview of the level of participation in L2F application with the use of behavioral supports and (2) general performance on L2F application for each participant. RESULTS: All three participants completed the initial auditory noise assessment (ANA) as well as 8 or more levels of the L2F application with varying accuracy levels. One participant completed the entire L2F program successfully. Several behavioral supports were used to facilitate participation; however, each individual demonstrated varied levels of engagement with the application. CONCLUSIONS: The L2F application may be a viable intervention tool to support audiovisual speech perception in persons with complex communication needs within a school-based setting. A review of behavioral supports and possible beneficial modifications to the L2F application for persons with complex communication needs are discussed.
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4. Bayat S, Gholami M, Khodadadi H, Ghazavi M, Nasiri J, Kheirollahi M. Comprehensive review and outline of genotypes and phenotypes of Arboleda-Tham syndrome spectrum: insights from novel variants. Mol Biol Rep. 2025; 52(1): 242.
BACKGROUND AND OBJECTIVE: Mutations in the KAT6A gene, which encodes a histone acetyltransferase, have been linked to an autosomal dominant neurodevelopmental disorder known as the Arboleda-Tham syndrome. The clinical symptoms of this disorder are nonspecific and pose challenges to accurately characterizing the condition based solely on these symptoms. This study aimed to establish a definitive diagnosis in three patients with intellectual disability and multiple congenital anomalies, and to elucidate the genotype-phenotype correlation based on the existing literature. PARTICIPANTS AND METHODS: In this study, we investigated three probands with severe intellectual disability, global developmental delay, hypotonia, gait disturbance, microcephaly, scoliosis, abnormal heart morphology, strabismus, gastrointestinal dysmotility, and abnormal facial shape, using karyotype analysis, multiplex ligation-dependent probe amplification, and whole exome sequencing. We also conducted a comprehensive literature review of previously reported cases. RESULTS: The karyotype analysis and Multiplex ligation-dependent probe amplification results were normal. Whole exome sequencing revealed three novel de novo mutations, c.3712G > T (p.Glu1238*), c.3561 C > A (p.Cys1187*), and c.1069 C > T (p.Arg357*), in the KAT6A gene (NM_006766.5). The heterozygous variants were verified by Sanger sequencing and were not present in either parent. CONCLUSIONS: In this study, we describe three cases of de novo KAT6A variants that were identified for the first time in Iran. Our results expand the understanding of the clinical features associated with Arboleda-Tham syndrome and validate the effectiveness of whole-exome sequencing to rapidly and accurately determine the etiology of such disorders. Furthermore, our literature review demonstrated close genotype-phenotype correlations associated with KAT6A and Arboleda-Tham syndrome.
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5. Chander A, Sharma J, Mahajan S, Dhankhar S, Chauhan S, Saini M, Mehta S. Serotonergic Dynamics in Autism Spectrum Disorder: Unraveling the Intricate Connection. CNS Neurol Disord Drug Targets. 2025.
Autism Spectrum Disorder (ASD) constitutes a group of neurodevelopmental disorders characterized by impairments in verbal and nonverbal communication skills, social interactions, and stereotypes of behavior, with an estimated frequency of 1.2% of children throughout the world. The lack of specific treatments or molecular biomarkers underscores the complexities of ASD as a nonunified clinical entity. Comorbid medical conditions are particularly associated with gastrointestinal issues that may suggest potential interactions between the brain and gut. This review suggests that serotonin plays a significant role in the enteric and central nervous systems in relation to ASD. The modulatory role of serotonin in the enteric nervous system is examined in relation to the pathophysiology of ASD in order to shed light on prospective biomarkers and therapeutic targets that could increase the precision of diagnosis and treatment.
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6. Cortese S, Bellato A, Gabellone A, Marzulli L, Matera E, Parlatini V, Petruzzelli MG, Persico AM, Delorme R, Fusar-Poli P, Gosling CJ, Solmi M, Margari L. Latest clinical frontiers related to autism diagnostic strategies. Cell Rep Med. 2025; 6(2): 101916.
The diagnosis of autism is currently based on the developmental history, direct observation of behavior, and reported symptoms, supplemented by rating scales/interviews/structured observational evaluations-which is influenced by the clinician’s knowledge and experience-with no established diagnostic biomarkers. A growing body of research has been conducted over the past decades to improve diagnostic accuracy. Here, we provide an overview of the current diagnostic assessment process as well as of recent and ongoing developments to support diagnosis in terms of genetic evaluation, telemedicine, digital technologies, use of machine learning/artificial intelligence, and research on candidate diagnostic biomarkers. Genetic testing can meaningfully contribute to the assessment process, but caution is required when interpreting negative results, and more work is needed to strengthen the transferability of genetic information into clinical practice. Digital diagnostic and machine-learning-based analyses are emerging as promising approaches, but larger and more robust studies are needed. To date, there are no available diagnostic biomarkers. Moving forward, international collaborations may help develop multimodal datasets to identify biomarkers, ensure reproducibility, and support clinical translation.
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7. Del Greco C, Kuo ME, Smith DEC, Mendes MI, Salamons GS, Nemcovic M, Kodrikova R, Sestak S, Stancheva M, Antonellis A. Loss-of-Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype. Mol Genet Genomic Med. 2025; 13(2): e70078.
BACKGROUND: Mutations in cysteinyl-tRNA synthetase (CARS1) have been implicated in a multisystem disease including microcephaly, developmental delay, and brittle hair and nail phenotypes. METHODS: Here, we present a patient with hepatopathy, hypothyroidism, short stature, developmental delay, microcephaly, muscular hypotonia, brittle hair, and ataxia. The patient underwent exome sequencing to identify potentially pathogenic genetic variants. In addition, identified variants were assessed using yeast complementation assays to determine functional consequences. RESULTS: Exome sequencing determined that the patient is compound heterozygous for p.Arg341His and p.Arg370Trp CARS1. Yeast complementation assays showed that the p.Arg341His variant has a hypomorphic effect and that the p.Arg370Trp variant causes a complete loss-of-function effect. CONCLUSION: This study is the second report of pathogenic CARS1 variants and expands the allelic and phenotypic heterogeneity of CARS1-associated disease.
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8. Gao L, Qiao S, Zhang Y, Zhang T, Lu H, Guo X. Parsing the heterogeneity of brain structure and function in male children with autism spectrum disorder: a multimodal MRI study. Brain Imaging Behav. 2025.
Autism spectrum disorder (ASD) is a neurodevelopmental condition with high structural and functional heterogeneity. Multimodal fusion of structural and functional magnetic resonance imaging (MRI) allows better integration of ASD features from multiple perspectives. This study aimed to uncover the potential ASD subtypes by fusing the features of brain structure and function. An unsupervised learning method, similarity network fusion (SNF), was used. Resting-state functional MRI and structural MRI from the Autism Brain Imaging Data Exchange database of 207 male children were included in this study (105 ASD; 102 healthy controls (HC)). Gray matter volume (GMV) and amplitude of low-frequency fluctuation (ALFF) were utilized to represent structural and functional features separately. Structural and functional distance networks were constructed and fused by SNF. Then spectral clustering was carried out on the fused network. At last, the multivariate support vector regression analysis was used to investigate the relationship between the multimodal alterations and symptom severity of ASD subtypes. Two ASD subtypes were identified. Compared to HC, the two ASD subtypes demonstrated opposite GMV changes and distinct ALFF alterations. Furthermore, the alterations of ALFF predicted the severity of social communication impairments in ASD subtype 1. However, no significant associations were found between the multimodal alterations and symptoms in ASD subtype 2. These findings demonstrate the existence of heterogeneity with distinct structural and functional patterns in ASD and highlight the crucial role of combining multimodal features in investigating the neural mechanism underlying ASD.
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9. Garotti R, Marino M, Riccio MP, Cappuccio G, Maffettone V, Bravaccio C. Variability in autism spectrum phenotypes linked to heterozygous missense familial ANK2 mutation. Eur J Med Genet. 2025; 74: 105001.
Autism Spectrum Disorder (ASD) is to date considered a disorder with a complex aetiology that recognizes both genetic and environmental risk factors. The role of the genetic contribution is progressively and significantly increasing, and lately thousands of genes have been linked to ASD. In this clinical report we describe a child with ASD carrying a heterozygous novel missense variant p.Arg987Trp in the ANK2 gene in heterozygous state, predicted pathogenic, and inherited from her father. The ANK2 gene has been associated with ASD but to date just few reports described the related phenotypes thus we aim at expanding behaviours endophenotypes of familial ANK2-related condition. Our patient was diagnosed with high-functioning ASD while her father showed subthreshold autistic traits such as relational difficulties and peculiar interests. We present this familial case to study genotype-phenotype correlation and highlight the huge variability of Autism spectrum phenotypes of the ANK2-related conditions. Nevertheless, future studies that can explore more of the link between the genetics of autism and associated clinical expressivity would be interesting.
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10. Lee Masson H. Dynamic functional adaptations during touch observation in autism: connectivity strength is linked to attitudes towards social touch and social responsiveness. Mol Autism. 2025; 16(1): 11.
BACKGROUND: Autistic adults experience differences in social interactions involving physical contact. Brain imaging studies suggest that these differences may be related to atypical brain responses to social-affective cues, affecting both the experience of receiving touch and observing it in others. However, it remains unclear whether these atypical responses are limited to specific brain regions or represent broader alterations in brain connectivity. The current study investigated how the functional network architecture is modulated during touch observation associated with autism and explored the extent to which changes in this architecture are associated with individual differences in social touch preferences and social responsiveness. METHODS: By integrating generalized psychophysiological interaction (gPPI) analysis with independent component analysis (ICA), the current study analyzed existing fMRI datasets, in which 21 autistic and 21 non-autistic male adults viewed videos of social and nonsocial touch while undergoing MRI scans. RESULTS: A gPPI analysis of regions of interest revealed that autistic adults exhibited increased connectivity between sensory and social brain regions. The strength of some of these connections was positively associated with a higher preference for social touch and greater social responsiveness, suggesting neural compensatory mechanisms that may help autistic adults better understand the meaning of touch. At the level of large-scale brain networks extracted using ICA, atypical connectivity was predominantly observed between the sensorimotor network and other networks involved in social-emotional processing. Increased connectivity was observed in the sensorimotor network during nonsocial touch, suggesting that embodied simulation, the process by which individuals internally simulate touch experience of others in this context, may be more engaged when observing human-object interactions than during human-to-human touch. LIMITATIONS: This study focused on a specific subgroup of 21 autistic male adults with minimal support needs. Future research would benefit from including a more diverse autistic sample. CONCLUSIONS: This study reveals atypical context-dependent modulation of functional brain architecture associated with autism during touch observation. Neural compensatory mechanisms in autistic individuals who enjoy social touch and show higher social responsiveness may function as adaptive social responses. However, these compensations may be limited to specific brain regions, rather than occurring at the level of large-scale brain networks.
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11. Li Z, Niu X, Wong PCM, Zhang H, Wang L. Factors influencing timely diagnosis of autism in China: an application of Andersen’s behavioral model of health services use. BMC Psychiatry. 2025; 25(1): 143.
BACKGROUND: Timely diagnosis of autism is pivotal for accessing crucial supports and services. However, achieving it remains a persistent challenge, particularly in countries like China where the healthcare system is characterized by its intricate network and often resulting in fragmented care delivery and disparities in access. METHODS: A cross-sectional questionnaire survey was conducted among families with autistic children aged between 1 and 17 years in Chinese Mainland. Andersen’s Behavioral Model guided the assessment of predisposing, enabling, and need factors. RESULTS: The study revealed that 86.24% of Chinese children did not receive a formal diagnosis until after 24 months, with an average gap of 10.93 months between parents/caregivers’ initial concerns and diagnostic confirmation. Predisposing factors of the child’s current age emerged as a significant predictor for timely diagnosis. Enabling factors, including residence-hospital distance and experience of misdiagnosis were significant. Additionally, the severity level at diagnosis was identified as a predictor for timely diagnosis. CONCLUSIONS: Our findings revealed that predisposing, enabling, and need factors contributed to the complex landscape of autism diagnosis in China. Strategies including implementing routine screening programs and adopting a multidisciplinary approach are crucial for timely identification and diagnosis, particularly for mild and moderate cases. Additionally, there is an urgent need for specialized autism training for healthcare professionals, the development of structured referral systems, and the expansion of telehealth solutions to ensure equitable access to diagnosis services across regions. By addressing these challenges, policymakers and healthcare providers can improve the accessibility and timeliness of autism diagnosis, ultimately enhancing the quality of life for affected individuals and their families.
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12. Maguire K, Barnoux M, Collins J, Melvin CL, Inkson I, Alexander RT, Devapriam J, Duggan C, Shepstone L, Staufenburg E, Thompson P, Turner D, Viding E, Langdon PE. The Factor Structure and Validity of the Psychopathy Checklist-Short Version When Used With Autistic Psychiatric Inpatients. Autism Res. 2025.
The Psychopathy Checklist Short Version (PCL:SV) is a brief measure of psychopathy. This study aimed to assess the reliability and validity of the PCL:SV with autistic adults detained in inpatient psychiatric care. Data were collected from 282 autistic adults at two time points separated by 12-months. Reliability and validity were investigated using omega, regression, receiver operating characteristic curves, and correlational analysis. PCL:SV Total, Factor 1, and Factor 2 had satisfactory to high reliability and construct validity. Higher PCL:SV scores were associated with poorer treatment progress, a longer length of stay, and previous criminal offending. Factor 1 was associated with a forensic history, detention under Part III of the Mental Health Act, and a personality disorder diagnosis, while Factor 2 was also associated with the absence of a forensic history, detention under Part II of the Mental Health Act, but not a personality disorder diagnosis. It was thought that Factor 2 most likely captured data associated with autism and/or intellectual disabilities (e.g., behaviors that challenge). Those with intellectual disabilities were less likely to have convictions, a history of violent offending, or a forensic history. They were also more likely to be detained under Part II of the Mental Health Act, and were more likely to have had a positive transfer 12-months later to a ward with lesser security. The PCL-SV correlated as expected with the HCR-20 and the START. This study provides preliminary evidence to support the use of the PCL:SV with autistic adults, including those with intellectual disabilities, within inpatient psychiatric hospitals.
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13. May CP, Whelpley CE, Moyer L, Feingold LM. How Long Does it Last? The Enduring Benefits of Neurodiversity Training and Diagnostic Disclosure on Hiring Outcomes for Adults with ASD. J Autism Dev Disord. 2025.
Even when perceived as highly qualified, job candidates with autism spectrum disorder (ASD) are less likely to be hired after a job interview than their neurotypical (NT) counterparts. However, when NT individuals receive training about neurodiversity and are aware of an ASD diagnosis, preliminary evidence suggests hiring outcomes for candidates with ASD are significantly more positive, at least when training occurs immediately before evaluation. This study examined whether the benefits of neurodiversity training coupled with diagnostic disclosure extend to the general population and persist over time. Participants included undergraduate students and individuals from the general U.S. population recruited through Prolific. They completed neurodiversity training either two weeks or two months before reviewing taped interviews of job candidates with and without ASD. They rated candidates on several social dimensions (e.g., trustworthiness, likeability, awkwardness) and indicated how likely they were to hire each candidate. Although candidates with ASD were rated less favorably on some social characteristics (e.g., awkwardness, similarity) relative to NT candidates, they were rated similarly on other dimensions (e.g., trustworthiness), and at both delays were just as likely to be hired as NT candidates. These findings suggest that evaluators who engage in neurodiversity training and receive diagnostic information about ASD candidates are favorably inclined to hire ASD candidates, and this positive disposition towards ASD candidates persists for several months after neurodiversity training.
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14. McLean KJ, Sadowsky M, Chesnokova A, Chvasta K, Lee WL, Ventimiglia J, Shea L. Assessing STI and HIV risks among autistic individuals: Implications for healthcare access and intervention. Disabil Health J. 2025: 101780.
BACKGROUND: Sexually transmitted infections (STIs) are prevalent in the general population. Autistic individuals, both with and without intellectual disability (ID), are potentially at increased risk due to gaps in sexual health education, increased vulnerability to sexual abuse, victimization, and disparities in access to primary and reproductive health care. OBJECTIVE: This study aims to identify the prevalence of STIs and HIV among a national sample of Medicaid-enrolled autistic individuals and their peers, identifying opportunities for intervention. METHODS: Characteristics of autistic Medicaid beneficiaries with and without ID were stratified to compare individuals with and without chlamydia, gonorrhea, syphilis, and HIV. Period prevalence of outcomes among Medicaid enrollees with autism spectrum disorder (ASD) only, ID only, and both (ASD and ID) were compared. RESULTS: Among autistic individuals, the prevalence of STIs and HIV was highest in the 22-30 age group and among Black enrollees, underscoring the importance of prioritizing their care through screening and preventive health measures. CONCLUSIONS: The results emphasize gaps in addressing the sexual and reproductive health needs of autistic individuals. Policymakers should prioritize funding for clinician training and increased healthcare access to address the sexual health needs of this population, especially those from additionally marginalized communities. It is vital to provide inclusive care that addresses the unique challenges faced by autistic individuals in accessing appropriate sexual health resources.
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15. Norman AO, Farooq N, Sahni A, Tapia K, Breiner D, Razak KA, Ethell IM. Differential effects of sound repetition rate on auditory cortex development and behavior in fragile X syndrome mouse model. Exp Neurol. 2025; 387: 115184.
Fragile X syndrome (FXS) is a leading genetic form of autism and intellectual disability that is associated with a loss-of-function mutation in the Fragile X messenger ribonucleoprotein 1 (Fmr1) gene. The Fmr1 knockout (KO) mouse model displays many aspects of FXS-related phenotypes and is used to study FXS pathophysiology. Sensory manipulations, such as sound exposure, are considered as a non-invasive approach to alleviate FXS phenotypes. However, it is unclear what specific sound attributes may have beneficial effects. In this study, we examined the effects of sound repetition rate on auditory cortex development and FXS-associated behaviors in a mouse model of FXS. KO and wild-type (WT) male littermates were exposed to 14 kHz pure tone trains with 1 Hz or 5 Hz repetition rates during postnatal day (P)9-P21 developmental period. We analyzed the effects of developmental sound exposure on PV cell development, cortical activity and exploratory behaviors in sound-exposed WT and KO mice. We found that parvalbumin (PV) cell density was lower in the auditory cortex (AuC) of KO compared to WT mice raised in sound-attenuated environment, but was increased following the exposure to both 1 Hz and 5 Hz sound trains. However, PV protein levels were upregulated only in AuC of 5 Hz rate exposed KO mice. Interestingly, analysis of baseline cortical activity using electroencephalography (EEG) recordings showed that sound attenuation or exposure to sound trains with 5 Hz, but not 1 Hz, repetition rates corrected enhanced resting state gamma power in AuC of KO mice to WT levels. In addition, sound attenuation and exposure to 5 Hz showed some beneficial effects on the synchronization to frequency-modulated chirp in the frontal cortex (FC) of both WT and KO mice. Analysis of event-related potentials (ERP) in response to broadband sound showed increased ongoing responses and decreased habituation to noise stimuli in the AuC and FC of naive KO mice. While sound-attenuation and exposure to 5 Hz showed no significant effects on the power of onset and ongoing responses, exposure to 1 Hz further enhanced ongoing responses and decreased habituation to sound in both WT and KO mice. Finally, developmental exposure to sound trains with 5 Hz, but not 1 Hz, repetition rates normalized exploratory behaviors and improved social novelty preference but not hyperactivity in KO mice. Summarizing, our results show that developmental exposure of mice to sound trains with 5 Hz, but not 1 Hz, repetition rate had beneficial effects on PV cell development, overall cortical activity and behaviors in KO mice. While sound attenuation alone normalized some EEG phenotypes, it did not improve PV development or behaviors. These findings may have a significant impact on developing new approaches to alleviate FXS phenotypes and open possibilities for a combination of sound exposure with drug treatment which may offer highly novel therapeutic approaches.
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16. Peya ZJ, Maria MA, Hossain SI, Akhand MAH, Siddique N. Autism Spectrum Disorder Detection Using Prominent Connectivity Features from Electroencephalography. Int J Neural Syst. 2025; 35(3): 2550011.
Autism Spectrum Disorder (ASD) is a disorder of brain growth with great variability whose clinical presentation initially shows up during early stages or youth, and ASD follows a repetitive pattern of behavior in most cases. Accurate diagnosis of ASD has been difficult in clinical practice as there is currently no valid indicator of ASD. Since ASD is regarded as a neurodevelopmental disorder, brain signals specially electroencephalography (EEG) are an effective method for detecting ASD. Therefore, this research aims at developing a method of extracting features from EEG signal for discriminating between ASD and control subjects. This study applies six prominent connectivity features, namely Cross Correlation (XCOR), Phase Locking Value (PLV), Pearson’s Correlation Coefficient (PCC), Mutual Information (MI), Normalized Mutual Information (NMI) and Transfer Entropy (TE), for feature extraction. The Connectivity Feature Maps (CFMs) are constructed and used for classification through Convolutional Neural Network (CNN). As CFMs contain spatial information, they are able to distinguish ASD and control subjects better than other features. Rigorous experimentation has been performed on the EEG datasets collected from Italy and Saudi Arabia according to different criteria. MI feature shows the best result for categorizing ASD and control participants with increased sample size and segmentation.
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17. Thomas KS, Keating J, Ross AA, Cooper K, Jones CRG. Avoidant/restrictive food intake disorder (ARFID) symptoms in gender diverse adults and their relation to autistic traits, ADHD traits, and sensory sensitivities. J Eat Disord. 2025; 13(1): 33.
BACKGROUND: There is emerging evidence to suggest gender diverse people are overrepresented in avoidant/restrictive food intake disorder (ARFID) samples. However, the mechanisms underlying elevated risk for ARFID in this group are currently unknown. Gender diversity and neurodivergence commonly co-occur, with elevated sensory sensitivities reported to be a shared experience common across autism, attention deficit hyperactivity disorder (ADHD), and ARFID. We aimed to examine the unique contribution of sensory sensitivities, including hypo- and hyper-sensitivity, in predicting ARFID symptoms in gender diverse adults, whilst controlling for autistic and ADHD traits. METHODS: Gender diverse adults (N = 182; 142 assigned female at birth; M age = 28.6 years) in the UK participated in an online survey. We examined correlations between their self-reported ARFID symptoms, sensory sensitivities, autistic traits (not including sensory sensitivities), and ADHD traits whilst controlling for weight and shape concerns. We then used hierarchical multiple regression to investigate the unique contribution of sensory sensitivities to ARFID symptoms whilst controlling for the other neurodivergent traits. RESULTS: In our gender diverse sample, higher levels of ARFID symptoms were associated with higher levels of sensory sensitivities, autistic traits, and ADHD traits, after controlling for weight and shape concerns. Furthermore, sensory sensitivities, specifically hyper-sensitivity, uniquely predicted levels of ARFID symptoms once we accounted for autistic and ADHD traits. CONCLUSIONS: When considering neurodivergence, sensory hyper-sensitivities may be particularly relevant to ARFID symptomatology in gender diverse adults. Future research should explore associations between ARFID presentations and sensory sensitivities in large samples of gender diverse adults, to enable separate analyses by gender identity. Gender diverse people, whose gender identity does not align with their sex assigned at birth, are at increased risk for eating disorders such as avoidant/restrictive food intake disorder (ARFID). Sensory sensitivities, autism and attention deficit hyperactivity disorder (ADHD) may increase a person’s risk of developing ARFID. Gender diverse people commonly report co-occurring autistic and ADHD traits, making it challenging to determine whether ARFID symptoms are linked to the autistic and ADHD traits they report, or whether ARFID symptoms are specifically associated with sensory sensitivities. We asked 182 gender diverse adults to complete an online questionnaire about their levels of ARFID symptoms, autistic traits, ADHD traits, and sensory sensitivities. We found gender diverse people with higher levels of ARFID symptoms also reported higher levels of autistic traits, ADHD traits, and sensory sensitivities. When we accounted for autistic and ADHD traits in our gender diverse sample, sensory hyper-sensitivity (i.e., an over-response to sensory information) had the strongest association with ARFID symptoms. Our findings suggest sensory sensitivities may be important to the development of ARFID symptoms in gender diverse people, over and above the influence of autistic and ADHD traits. eng.
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18. Videla R, Aros MB, Parada F, Kausel L, Sandoval-Obando E, Jorquera D, Ibacache D, Maluenda S, Rodríguez-Herrero P, Cerpa C, González MJ, Chávez M, Ramírez P. Neurodiversity: post-cognitivist foundations of the 3E approach for educational inclusion of autistic students with technology. Front Hum Neurosci. 2024; 18: 1493863.
The concept of neurodiversity has gained strength in the last years to highlight the value of individual differences based on relevant variations in brain functioning. Inclusive education has embraced neurodiversity to promote a culture centered on valuing diversity, in response to clinical models based on deficits or disorders. This theoretical-critical article argues for the need to complement the current foundations of neurodiversity with post-cognitivist perspectives that reaffirm the brain-body-environment continuum, in order to enrich inclusive educational practices for autistic individuals. We begin by reviewing and discussing the concept of neurodiversity and neurocentric arguments in light of post-cognitivism. We then explore the potential of the 3E Cognition approach (embodied, enacted, and environmentally scaffolded) for addressing autism, aiming to provide a holistic understanding that contributes to the practical application of cognitive neuroscience findings in inclusive education. Finally, we present some guidelines and practical cases for creating inclusive educational environments based on digital technologies that enhance agency and sensory multimodality for autistic students.
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19. Waldren LH, Livingston LA, Clutterbuck RA, Walton E, Callan MJ, Shah P. The importance of using an optimal cutoff value for the 10-item Autism-Spectrum Quotient (AQ10). Psychol Assess. 2025.
The 10-item Autism-Spectrum Quotient (AQ10) is frequently used to screen adults for high autistic traits in clinical practice and research. For the past decade, however, the National Institute for Health and Care Excellence has recommended the use of a suboptimal ≥ 7 cutoff value, instead of the optimal ≥ 6 value specified during the AQ10’s development. A comprehensive review into the use and reporting of the AQ10 cutoff suggests that this discrepancy has proliferated across the literature, with over 58% of reports citing a suboptimal (27.15%) or ambiguous (31.13%) cutoff value. After examining the use of the AQ10 cutoff in previous research, we drew on 25 published data sets (N = 13,692) to test how applying different AQ10 cutoffs can influence research. Our analyses suggest that a striking 36.80% of the participants classified as having high autistic traits using the ≥ 6 cutoff would be classified as having low autistic traits using the ≥ 7 cutoff. The ≥ 6 cutoff was also found to provide a better balance between the sensitivity and specificity of the AQ10 with respect to a clinical autism diagnosis. Most critically, our analyses showed that even a 1-point difference in the AQ10 cutoff-the error made in the National Institute for Health and Care Excellence guidelines-can meaningfully change both the statistical significance and the magnitude of autism-related effects. These findings demonstrate that the suboptimal use of the AQ10 cutoff can be consequential for research, and we discuss the urgent need to establish and apply appropriate autism screening cutoff values in the future. (PsycInfo Database Record (c) 2025 APA, all rights reserved).
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20. Wang X, Bouton S, Kojovic N, Giraud AL, Schaer M. Atypical audio-visual neural synchrony and speech processing in early autism. J Neurodev Disord. 2025; 17(1): 9.
BACKGROUND: Children with Autism Spectrum disorder (ASD) often exhibit communication difficulties that may stem from basic auditory temporal integration impairment but also be aggravated by an audio-visual integration deficit, resulting in a lack of interest in face-to-face communication. This study addresses whether speech processing anomalies in young autistic children (mean age 3.09-year-old) are associated with alterations of audio-visual temporal integration. METHODS: We used high-density electroencephalography (HD-EEG) and eye tracking to record brain activity and gaze patterns in 31 children with ASD (6 females) and 33 typically developing (TD) children (11 females), while they watched cartoon videos. Neural responses to temporal audio-visual stimuli were analyzed using Temporal Response Functions model and phase analyses for audiovisual temporal coordination. RESULTS: The reconstructability of speech signals from auditory responses was reduced in children with ASD compared to TD, but despite more restricted gaze patterns in ASD it was similar for visual responses in both groups. Speech reception was most strongly affected when visual speech information was also present, an interference that was not seen in TD children. These differences were associated with a broader phase angle distribution (exceeding pi/2) in the EEG theta range in children with ASD, signaling reduced reliability of audio-visual temporal alignment. CONCLUSION: These findings show that speech processing anomalies in ASD do not stand alone and that they are associated already at a very early development stage with audio-visual imbalance with poor auditory response encoding and disrupted audio-visual temporal coordination.
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21. Wodziński M, Kamińska N, Moskalewicz M. The image of autism in the Polish press 2009-2020 and the role of first-person testimonies. BMC Psychiatry. 2025; 25(1): 137.
This study examines the representation of autism in Polish press discourse from 2009 to 2020 in five major Polish daily newspapers, specifically focusing on the influence of first-person testimonies of autistic individuals. Quantitative discourse analysis was conducted using deductive coding of 1352 press articles concerning ASC. In analyzed press reports, autism was primarily portrayed as a negative and deficit-laden phenomenon that should be addressed by bringing autistic people in line with the neurotypical majority, reinforcing social stereotypes and stigma. Autistic people’s perspective was mostly neglected. However, when autistic people’s voice and first-person perspective was presented, as in the case of 3.7% of the analyzed media, such stereotypical and negative perspectives on ASC significantly changed for the better.Research outcomes highlight the disparities in autism portrayal, particularly contrasting the deficit-driven narratives with perspectives emerging from the inclusion of first-person narratives. The latter can mitigate harmful stereotypes and promote a more accurate and positive understanding of autism. Treating autistic people as an essential source of information about themselves significantly changes the press image of autism and may indirectly contribute to their quality of life.