This study explored sensory processing differences between Italian autistic and neurotypical adults using the short-form Sensory Perception Quotient (SPQ). The primary aim was to conduct a preliminary evaluation of the Italian adaptation, examining feasibility and initial psychometric properties to guide future validation. A total of 156 participants (79 autistic, 77 neurotypical) completed the SPQ, which assesses sensory sensitivity across taste, smell, vision, hearing, and touch. Analyses included internal consistency, item-total correlations, exploratory factor analysis, and correlations with demographic variables. Group differences were tested using ANOVA, General Linear Models controlling for age, sex, and education, and MANCOVA to reduce multiple comparison bias. Autistic participants reported significantly lower total SPQ scores, particularly in vision, hearing, and touch, indicating heightened sensory sensitivity. Age showed a modest association with reduced olfactory sensitivity, while no significant effects emerged for sex or education. Findings support the feasibility of the Italian SPQ-short and highlight the relevance of sensory sensitivities in adult autism.

Purpose:Autism spectrum disorder (ASD) is increasingly recognized in adulthood, including in forensic settings, where its diagnostic and medico-legal implications remain insufficiently defined. Current evidence does not support a simple association between ASD and offending; rather, offender presentations in autistic individuals appear heterogeneous and are likely shaped by the interaction between core autistic features, intellectual and adaptive functioning, comorbidity, developmental adversity, and contextual stressors. Participants and Methods:This clinical-forensic case series describes seven offenders with ASD assessed within the Italian forensic psychiatric context. The cases encompassed multiple offending domains, including homicide, stalking, and persecutory acts, alleged sexual offending, property-related offending (arson), and domestic abuse. In several instances, ASD was identified for the first time during forensic evaluation in adulthood, often in the context of atypical presentations, variable cognitive functioning, and overlapping psychiatric or personality features. Results:Across cases, offending-related conduct appeared to arise through different psychopathological and developmental pathways, including rigidity and restricted interests, social naivety, impaired contextual understanding, concrete or idiosyncratic interpretations of interpersonal situations, emotional dysregulation, interpersonal vulnerability, and co-occurring psychopathology. The series also highlighted substantial diagnostic challenges in forensic practice, particularly where autism had remained previously unrecognized. These findings suggest that the forensic relevance of ASD lies not in diagnosis alone, but in the specific way autistic characteristics interact with cognition, adaptation, and contextual demands in shaping the behaviour under examination. Conclusion:This case series supports the need for a clinically integrated, developmentally informed, and individualized forensic psychiatric assessment of offenders with ASD. Standardized instruments may be informative, but only when interpreted within a broader formulation incorporating developmental history, cognitive and adaptive functioning, psychiatric comorbidity, and contextual factors. Improved recognition of underdiagnosed or atypical adult presentations may enhance diagnostic accuracy and support more appropriate decisions regarding criminal responsibility, risk management, and treatment planning.

Exome sequencing (ES) has become a primary tool for diagnosing neurodevelopmental disorders (NDDs), yet the interpretation of genetic variants in large, heterogeneous cohorts presents significant challenges that automated pipelines often fail to resolve. This study showcases the complexities and novel findings derived from a decade-long analysis of 419 Italian NDD patient-parent trios. While ES established a molecular diagnosis in 36.5% of cases (53.8% in syndromic presentations), our investigation moves beyond diagnostic yield to highlight the critical value of manual curation integrated with deep phenotyping. We demonstrate how this rigorous approach uncovers complex disease mechanisms, revealing that variants initially misclassified as missense or stop-gain are, in fact, pathogenic splicing defects confirmed by functional analysis. Furthermore, we resolve the paradox of pathogenic truncating PPM1D variants in control databases by demonstrating their somatic mosaic nature, a crucial insight for population data interpretation. Our work also refines gene-disease correlations by challenging the established role of MID2 in NDDs, providing further evidence for DSCAM as a high-confidence risk gene, and expanding the known phenotypic spectrum of disorders, such as a novel GNAI2-related syndrome lacking expected immune dysfunction. This study underscores that navigating the complexities of large NDD cohorts requires a detailed, expert-driven approach to not only enhance diagnostic yield but also to advance our fundamental understanding of rare disease genetics.

BackgroundSevere challenging behaviors in autistic adults are difficult to manage in generic psychiatric settings and impose a heavy burden on individuals, families, and services. The Piedmont Region (Italy) established a specialized third-level inpatient unit for these presentations, embedded within an integrated, three-tier regional network. This study reports preliminary effectiveness data from this model.Materials and methodsIn a prospective, pre-post design, 10 autistic adult males admitted for severe challenging behaviors received an intensive, individualized psychoeducational program based on Applied Behavior Analysis during a time-limited specialized admission. Psychopathology (Brief Psychiatric Rating Scale, BPRS), challenging behaviors (Aberrant Behavior Checklist, ABC), global clinical severity (Clinical Global Impression, CGI), and social support (Social and Affective Functional Support Scale, SSAF) were assessed before admission (T0) and at discharge (T1). Change was examined with paired-samples t-tests and standardized effect sizes; given the sample size and number of comparisons, analyses were exploratory.ResultsImprovement was selective rather than uniform. On the BPRS, significant reductions emerged across several dimensions, concentrated in a coherent behavioral-disorganization and agitation cluster (i.e., motor tension, distractibility, bizarre behavior, conceptual disorganization, and anxiety) with large effect sizes. The ABC showed significant reductions in lethargy/social withdrawal and hyperactivity, whereas stereotypic behavior, irritability, and inappropriate speech did not change significantly. CGI and SSAF showed non-significant trends toward improvement. Trait-like, affective, and global dimensions appeared least responsive to the admission.ConclusionA time-limited, specialized inpatient program delivered within an integrated regional network was associated with improvement concentrated in observable, modifiable behavioral dimensions. These preliminary findings support the development of specialized, coordinated care pathways for severe challenging behaviors in autistic adults and warrant controlled studies with larger, sex-diverse samples and post-discharge follow-up.

Background: SATB2-associated syndrome (SAS), also known as Glass syndrome, is a neurodevelopmental disorder (NDD) characterized by intellectual disability, developmental delay, absent or limited speech, and distinctive craniofacial and dental anomalies. It is caused by autosomal dominant pathogenic variants in the SATB2 gene, which plays a crucial role in brain, dental, and jaw development. Due to its variable phenotype, clinical diagnosis can be challenging, necessitating genetic confirmation. Methods: We present six new cases of SAS with SATB2 germline variants identified through next generation sequencing (NGS) technologies, expanding the known genetic and clinical spectrum of the syndrome. Detailed clinical phenotyping was performed for all patients. Results: Our cohort exhibits a broad range of clinical manifestations consistent with SAS, encompassing severe intellectual disability, profound speech delay, various palatal and dental abnormalities. We report the oldest adult patient (56 years old) carrying an in-frame duplication, and a pediatric patient with a missense variant who presented a significant reduction in visual acuity, likely of neurological or cortical origin, in the absence of ophthalmological abnormalities. SATB2 variants include three missenses, two in-frame deletion/duplication and one frameshift variant, several of which are novel and classified as likely pathogenic or pathogenic according to ACMG guidelines. Conclusions: This report provides new clinical and genetic insights into the landscape of SAS. Our findings confirm the phenotypic heterogeneity of SAS and highlight the critical role of comprehensive genetic testing for accurate diagnosis in NDD patients.

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition that requires lifelong support and significantly impacts social and occupational functioning. To promote effective inclusion, interventions must be both individualized and environmentally adaptive. This study aimed to examine the implementation of the Life Project (LF) within the Piedmont Region (Italy), a personalized plan focused on autonomy and decision-making support. The approach involved creating multidisciplinary teams with autism-specific expertise, ensuring continuity of care from childhood to adulthood, and employing standardized diagnostic tools for consistent assessment. Services were designed to prioritize community-based and home-centered interventions, with longterm residential care considered only when strictly necessary. The Turin Adult Autism Centre acted as a coordinating hub, integrating local services and promoting interdisciplinary collaboration. A structured survey was conducted across 13 Local Health Units (ASLs), with 10 providing complete data, covering 1,664 adults with ASD. The questionnaire, distributed by the Regional Health Department to adult autism centers (NDPSA), explored organizational development, service provision, interagency collaboration, clinical assessments, and interventions. Findings demonstrated a widespread network of services across the territory, suggesting the feasibility and scalability of the LF model. Nevertheless, areas needing improvement were identified, particularly in the standardization of care practices and service delivery. These findings align with existing literature emphasizing the importance of continuity of care, person-centered planning, and community-based support in ASD. The LF model shows promise in addressing complex needs across the lifespan. However, limitations include variability in implementation and potential gaps in professional training. Further research is needed to refine protocols and assess long-term outcomes. The Life Project model represents a promising approach to ASD care, emphasizing autonomy, multidisciplinary coordination, and territorial integration, though further efforts are needed to enhance the standardization and quality of services.

I disturbi dello spettro autistico sono condizioni neuroevolutive complesse per il loro coinvolgimento multisistemico, che comprende aspetti sociocomunicativi, psicologici e internistici (sistemi immunitario, neurologico, gastrointestinale e metabolico). Le persone autistiche presentano maggiori rischi di salute e una più alta probabilità di sviluppare comorbilità psicopatologiche. È quindi necessario un approccio integrato e globale alla cura e all'abilitazione. Gli interventi di educazione fisicomotoria utilizzano lo sport per migliorare il funzionamento fisico, sensomotorio, cognitivo, comunicativo, sociale, adattivo, psicologico e medicointernistico. Attività come trekking e vela possono favorire il benessere generale: camminare riduce il rischio cardiovascolare e depressivo, mentre la vela promuove abilità motorie e sociali complesse, in particolare la cooperazione. Queste esperienze sostengono lo sviluppo di autonomie, la socializzazione, l'inclusione e la possibilità di turismo accessibile. La letteratura sull'efficacia di tali interventi negli adulti con autismo è ancora limitata. Il Centro Regionale Esperto per l'ASD in Età Adulta (ASL Città di Torino) promuove progetti abilitativi in setting naturalistici, come spazi verdi e blu, per favorire apprendimenti stabili e generalizzabili. I benefici dello sport si sommano a quelli della natura: miglioramento delle funzioni cardiovascolari, riduzione di ansia e depressione, potenziamento delle abilità cognitive e sociocomunicative, miglioramento del profilo sensoriale e della qualità di vita. Su questi principi si fondano progetti come CONTATTO®, Via Francigena for All – Francigena in Blu e CONTATTO® VELA, rivolti ad adulti autistici, che favoriscono arricchimento adattivo e crescita attraverso lo sport, la condivisione e l'esperienza nella natura. L'articolo illustra i principi, la metodologia e le prospettive future di tali interventi.

Accurate face recognition is crucial for navigating social interactions. While neurotypical individuals generally show no issues with face processing, persons with Autism Spectrum Disorder (ASD) often exhibit impairments in this area. This study explores the extent of these face recognition deficits in autistic adults, focusing on their ability to identify famous faces, along with the awareness (metacognition) of their face recognition skills. Using the Italian Famous Face Test (IT-FFT) and the Prosopagnosia Index-20 (PI-20), to compare face recognition performance and self-awareness of face recognition abilities between 50 non-autistic and 49 individuals diagnosed with level 1 ASD. Autistic people had significantly lower face identification scores and greater difficulties recognizing famous faces than non-autistic participants. Additionally, autistic individuals reported more face recognition challenges on the PI-20, highlighting their awareness of these deficits. These findings suggest that face recognition impairments in ASD extend to famous faces and underscore the importance of further research to explore targeted interventions aimed at improving different aspects of face recognition in autistic people.

Purpose - Because of social interaction difficulties, cognitive characteristics and sensory sensitivity, people with autism spectrum disorder (ASD) may struggle with independence and active participation in urban contexts. Through understanding how people with ASDs experience and perceive urban spaces, the Personalized Interactive Urban Maps for Autism (PIUMA) project's purpose is to create a useful platform to support persons with ASD in their movements in the city, helping them in managing their daily lives, promoting their autonomy and active participation in urban contexts, taking in to account their direct point of view. This paper aim to present a user-centered approach involving autistic people. Design/methodology/approach - The authors involved researchers with different backgrounds applying mixed research techniques such as semi-structured qualitative interviews, participatory design, exploiting user-adapted systems techniques, human-computer interaction techniques and interviews. The authors involved people with autism (PWA) from the beginning of the project to gain user requirements, as well as to assess the acceptability and effectiveness of our solution in the final stage. In specific phases of the project, the authors involved a group of parents of PWA and a group of neurotypical individuals as a control group. Findings - The authors collected various data and created an App taking into account PWA needs, suggestions and points of view. Research limitations/implications - Choosing different methodologies to allow participants to express their point of view, their needs and suggestions, the authors limited the quantitative data collected. The male-to-female ratio in the study, along with the sample size and participants' age, can also be considered limitations. Practical implications - The authors collected information about how autistic people move in urban contexts, represent the space of their cities, move independently and use technological devices. The data the author collected also provides suggestions about how to improve computer systems designed for them. Social implications - The results suggest how to improve computer systems designed for autistic people and how to encourage their full participation in community life according to their cognitive and sensory characteristics. Originality/value - The PIUMA project takes into account the direct input of PWA in all the different stages from conception and design to deployment of the device in a human-centered design approach.

Objective Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in communication and relational skills, associated with repetitive verbal and motor behaviors, restricted patterns of interest, need for a predictable and stable environment, and hypo-or hypersensitivity to sensory inputs. Even if clinical symptoms are present since early childhood, not rarely this disorder is not diagnosed since adulthood especially in individuals with high functioning autism or Level 1 of functioning. Therefore, this study aimed to pilot test a newly developed screening tool to assist clinicians in detecting this condition both in the general population and in psychiatric patients. Methods In this study we have developed and tested a screening tool, the SIAHA (Screening Instrument for Adult with High-Functioning Autism), to assist clinicians, especially those not specialized in ASD, in detecting ASD Level 1. To test the validity of the SIAHA we examined it in three groups: ASD group, a psychopathological group, and a non-clinical group. Results From the results obtained by comparing the SIAHA total scores across the different groups, it emerges that this tool could assist psychiatrists in better identifying the presence of basic autism criteria during initial screenings. Conclusion The use of the SIAHA could potentially be beneficial in reducing the misdiagnoses often attributed to adult with autism.

Objective:Autism Spectrum Disorders are neurodevelopmental disorders characterized by persistent communication and social interaction challenges, restricted and repetitive behaviours and interests. The severity of ASD symptoms varies widely, influencing an individual's functioning throughout their lifespan. Various external contextual factors can further modulate these symptoms and their impact on overall functioning. The primary purpose of this study is to investigate global functioning as well as the types of services, interventions and therapies that subjects with ASD in adulthood have experienced throughout their lives. Additionally, we collected data to analyze and identify factors that impact outcomes for subjects with ASD. Method:A total of 503 subjects with ASD in adulthood, along with their families and clinicians, were interviewed to collect comprehensive data on demographic, clinical, and functional variables. Data were analyzed using regression models to identify factors independently associated with global functioning, measured through the Global Assessment of Functioning (GAF) scale. Results:We identified internal and external factors that significantly impacted the global functioning of ASD people.The analysis identified multiple factors significantly affecting global functioning, including levels of communication, psychiatric comorbidities, social relationships, use of interventions, and living and employment status. The study highlights the critical role of both individual and contextual elements in shaping outcomes. Conclusions:Our study represents an exploratory investigation of outcomes for ASD adults. It underscores the importance of personalized and targeted interventions to improve the quality of life and overall functioning of subjects with ASD in adulthood. The findings advocate for further research to address gaps in understanding and to design interventions tailored to diverse needs.

Objective:Borderline Intellectual Functioning (BIF) impacts cognitive functioning and adaptive behavior. Recent studies have demonstrated the efficacy of Executive Functions trainings to support daily-living skills in several clinical populations. However, although the relationship between Executive Functions and BIF has been studied, few studies have explored the effects of cognitive enhancement training for BIF children. Given the pivotal significance of Executive Functions in learning, orchestrating cognitive processes, and modulating affective and behavioral responses, our study aimed to evaluate the efficacy of cognitive enhancement training targeting Executive Functions in a group of 23 children diagnosed with Borderline Intellectual Functioning devoid of neurodevelopmental impairments. Method:We included a multiple assessment based on several informants (children, teachers, parents, and tutors) and provided individualized cognitive enhancement training focused on Executive Functions through both digital and analog activities. The training was highly customized, structured and monitored at various stages of the process activities. The training was composed of 20 sessions, each lasting 2 hours, held twice a week for each child. Results:The obtained results confirmed the efficacy of cognitive enhancement training in improving Executive Functions, the primary target of the intervention, particularly in attention, verbal fluency, planning, inhibitory control, working memory, and flexibility. Furthermore, improvements were observed by all the informants in other cognitive functions, learning, and adaptive behaviors. Conclusions:Our study contributes to the understanding of BIF, emphasizing the efficacy of neuropsychological enhancement through personalized training for EF.

Autism spectrum disorder (ASD) exhibits an ∼4:1 male-to-female sex bias and is characterized by early-onset impairment of social/communication skills, restricted interests, and stereotyped behaviors. Disruption of the Xp22.11 locus has been associated with ASD in males. This locus includes the three-exon PTCHD1, an adjacent multi-isoform long noncoding RNA (lncRNA) named PTCHD1-AS (spanning ∼1 Mb), and a poorly characterized single-exon RNA helicase named DDX53 that is intronic to PTCHD1-AS. While the relationship between PTCHD1/PTCHD1-AS and ASD is being studied, the role of DDX53 has not been comprehensively examined, in part because there is no apparent functional murine ortholog. Through clinical testing, here, we identified 8 males and 2 females with ASD from 8 unrelated families carrying rare, predicted damaging or loss-of-function variants in DDX53. Additionally, we identified a family consisting of a male proband and his affected mother with high-functioning autism, both harboring a gene deletion involving DDX53 and exons of the noncoding RNA PTCHD1-AS. Then, we examined databases, including the Autism Speaks MSSNG and Simons Foundation Autism Research Initiative, as well as population controls. We identified 26 additional individuals with ASD harboring 19 mostly maternally inherited, rare, damaging DDX53 variations, including two variants detected in families from the original clinical analysis. Our findings in humans support a direct link between DDX53 and ASD, which will be important in clinical genetic testing. These same autism-related findings, coupled with the observation that a functional orthologous gene is not found in mice, may also influence the design and interpretation of murine modeling of ASD.

Despite decades of massive neuroimaging research, the comprehensive characterization of short-range functional connectivity in autism spectrum disorder (ASD) remains a major challenge for scientific advances and clinical translation. From the theoretical point of view, it has been suggested a generalized local over-connectivity that would characterize ASD. This stance is known as the general local over-connectivity theory. However, there is little empirical evidence supporting such hypothesis, especially with regard to pediatric individuals with ASD (age ≤ 18 years old). To explore this issue, we performed a coordinate-based meta-analysis of regional homogeneity studies to identify significant changes of local connectivity. Our analyses revealed local functional under-connectivity patterns in the bilateral posterior cingulate cortex and superior frontal gyrus (key components of the default mode network) and in the bilateral paracentral lobule (a part of the sensorimotor network). We also performed a functional association analysis of the identified areas, whose dysfunction is clinically consistent with the well-known deficits affecting individuals with ASD. Importantly, we did not find relevant clusters of local hyper-connectivity, which is contrary to the hypothesis that ASD may be characterized by generalized local over-connectivity. If confirmed, our result will provide a valuable insight into the understanding of the complex ASD pathophysiology.

Interpersonal touch plays a crucial role in shaping relationships and encouraging social connections. Failure in processing tactile input or abnormal tactile sensitivity may hamper social behaviors and have severe consequences in individuals' relational lives. Autism Spectrum Disorder (ASD) is characterized by both sensory disruptions and social impairments, making affective touch an ideal meeting point for understanding these features in ASD individuals. By integrating behavioral and physiological measures, we investigated the effects of affective touch on adult individuals with ASD from both an implicit and explicit perspective. Specifically, at an implicit level, we investigated whether and how receiving an affective touch influenced participants' skin conductance tonic and phasic components. At the explicit level, we delved into the affective and unpleasant features of affective touch. Overall, we observed lower skin conductance level in ASD compared to TD subjects. Interestingly, the typically developing (TD) group showed an increased autonomic response for affective touch compared to a control touch, while ASD subjects' autonomic response did not differ between the two conditions. Furthermore, ASD participants provided higher ratings for both the affective and unpleasant components of the touch, compared to TD subjects. Our results reveal a noteworthy discrepancy in ASD population between the subjective experience, characterized by amplified hedonic but also unpleasant responses, and the physiological response, marked by a lack of autonomic activation related to affective touch. This insightful dissociation seems crucial for a deeper understanding of the distinctive challenges characterizing people with ASD and may have implications for diagnosis and therapeutic approaches.

Despite over two decades of neuroimaging research, a unanimous definition of the pattern of structural variation associated with autism spectrum disorder (ASD) has yet to be found. One potential impeding issue could be the sometimes ambiguous use of measurements of variations in gray matter volume (GMV) or gray matter concentration (GMC). In fact, while both can be calculated using voxel-based morphometry analysis, these may reflect different underlying pathological mechanisms. We conducted a coordinate-based meta-analysis, keeping apart GMV and GMC studies of subjects with ASD. Results showed distinct and non-overlapping patterns for the two measures. GMV decreases were evident in the cerebellum, while GMC decreases were mainly found in the temporal and frontal regions. GMV increases were found in the parietal, temporal, and frontal brain regions, while GMC increases were observed in the anterior cingulate cortex and middle frontal gyrus. Age-stratified analyses suggested that such variations are dynamic across the ASD lifespan. The present findings emphasize the importance of considering GMV and GMC as distinct yet synergistic indices in autism research.

Abstract The faces we see in daily life exist on a continuum of familiarity, ranging from personally familiar to famous to unfamiliar faces. Thus, when assessing face recognition abilities, adequate evaluation measures should be employed to discriminate between each of these processes and their relative impairments. We here developed the Italian Famous Face Test (IT-FFT), a novel assessment tool for famous face recognition in typical and clinical populations. Normative data on a large sample (N = 436) of Italian neurotypical individuals (NT) were collected, assessing both familiarity (d-prime) and recognition accuracy. Next, we investigated the IT-FFA’s validity on a neurodevelopmental condition, autism spectrum disorder (ASD), often associated with face recognition deficits. Results showed ASDs’ difficulties in face recognition and in their ability to discriminate between famous and non-famous faces. Furthermore, this study explored whether both NTs and ASDs possess insights into their overall face recognition skills by correlating the Prosopagnosia Index-20 (PI-20) with the IT-FFT; a negative correlation between these measures in both groups suggests that even ASDs have insight into their (weaker) face recognition skills. Overall, our study provides the first online-based Italian test for famous faces (IT-FFT), demonstrates its sensitivity in detecting face difficulties in ASDs, and suggests spared face-related metacognitive skills in ASD.

IntroductionThis article addresses a topic that has been largely overlooked by scientific literature, namely pregnancy in autistic women. Generally, the issue of sexuality in disability, particularly in disabled women, autistic or otherwise, has been underexplored. However, it is necessary to scientifically investigate this topic to propose adequate social and health policies. Therefore, we chose to conduct a scoping review to answer three main questions: “What does it mean for an autistic woman to be pregnant?”; “How do these two conditions coexist?”; “Are health services prepared to receive this population adequately or does autism become a stigma for pregnant women?”MethodsWe conducted a systematic review and qualitative thematic synthesis following the Preferred Reporting Guidelines for Systematic Reviews and Meta-Analyses on autistic women and pregnancy in the last 10 years.ResultsThe studies included in our review are 7, extremely diverse in terms of methodologies and sample sizes. Despite the heterogeneity of samples and methodologies, all research tends to highlight the following results. For autistic women during pregnancy, three areas seem to be the most difficult: sensory issues, mood disorders, and relationships with specialists.DiscussionOur study found that women with ASD face unique challenges during childbirth that differ from those of neurotypical women. Participants often felt belittled, ignored, and uninformed about the care they received, and being placed at the centre of attention was often seen as negative and hindering rather than positive. However, the research shows us how some “expected” results, such as difficulties in breastfeeding, have been disproven.