Center for Autism and Related Disorders

This scoping review was conducted to comprehensively examine global research on support groups for neurotypical siblings of individuals with autism spectrum disorder (ASD). The study aimed to understand the psychosocial needs of neurotypical siblings, the available support, and the effectiveness of support groups in informing the development of an optimal support framework. We adhered to the PRISMA extension for scoping reviews (PRISMA-ScR) to systematically map existing knowledge and identify gaps. The selection criteria included studies published in English from 2010 to 2024, including peer-reviewed articles, dissertations, and theses. A systematic literature search was conducted across PubMed, Google Scholar, MS Copilot, CINAHL, Ovid, and Web of Science, following a systematic framework, using defined keywords. Data extraction and peer reviews were conducted using spreadsheet-based methods to ensure methodological rigor. The spreadsheet included the study's metadata (title, author, year, and journal name), population demographics (gender, age, and sibling order), methodology, and limitations. Of 662 screened studies, 12 met the inclusion criteria after review of titles, abstracts, and full texts. Most studies focused on the impact (n = 4), sibling relationship (n = 3), and varied intervention types. Support groups were found to be a feasible and acceptable intervention for neurotypical siblings, offering improved understanding of their sibling's condition, peer networks, safe self-expression spaces, better mental health, and coping skills. Findings support the development of tailored, evidence-based sibling support programs, recognizing these as a distinct domain in health and social care policy and funding.

BackgroundSex education for adolescents with autism spectrum disorders (ASD) is often overlooked in traditional educational programs, despite scientific evidence highlighting the need for a specific personalized approach. Family involvement is essential, but Italian literature on the role of caregivers in this area is still limited.Materials and methodsThis qualitative study adapted a previously developed qualitative protocol to the Italian context. A focus group was conducted with parents of adolescents with ASD (n=9) and an online questionnaire was administered (n=12). The questions explored previous experiences, perceptions of sex education, content considered a priority, and preferred methods of intervention.ResultsThe thematic analysis highlighted two macro areas: 1) the role of parents in sex education, ranging from direct supervision to delegation to professionals; 2) the vulnerability of children with ASD, linked to communication difficulties, exposure to inappropriate content and lack of experiential education. Parents expressed a strong need for clear, experiential and culturally sensitive educational tools.ConclusionsThe study highlights the need to develop structured and inclusive sex education programs for adolescents with ASD, actively involving caregivers. A multidimensional and collaborative approach is essential, capable of integrating emotional, physical and regulatory aspects. The results offer a significant contribution to bridging the gap in Italy on this issue and to guiding future educational and policy interventions.

Background: Children with Autism Spectrum Disorder (ASD) and Social Communication Disorder (SCD) face persistent impairments in language acquisition, social communication, and daily functioning. High-technology mobile applications have demonstrated efficacy in supporting communication and language development in these populations; however, the overwhelming majority of validated applications are developed in English and culturally oriented toward Western contexts. No prior systematic review has examined the development or effectiveness of mobile applications specifically designed in Urdu, Punjabi, or Sindhi — the three primary regional languages of Pakistan and South Asia — for children with ASD or SCD. Objective: To systematically identify, characterise, and appraise the methodological quality and effectiveness of high-technology mobile applications incorporating Urdu, Punjabi, or Sindhi language support for children (aged 0–18 years) with ASD or SCD. Methods: A systematic review was conducted in accordance with PRISMA 2020 guidelines. Five electronic databases — PubMed/MEDLINE, IEEE Xplore, Scopus, Web of Science, and Google Scholar — were searched in January 2025 from inception to search date. Two independent reviewers conducted dual screening at title/abstract and full-text stages; disagreements were resolved by consensus. Methodological quality was assessed using the Mixed-Methods Appraisal Tool (MMAT), JBI Quasi-Experimental Checklist, and CASP Quantitative Checklist, as appropriate to study design. Narrative synthesis was conducted using the SWiM framework. Results: Of 847 records identified, 28 studies met eligibility criteria after removal of 156 duplicates and staged screening. Seven studies constituted the core evidence base directly aligned with the review's South Asian regional language focus. Five studies incorporated Urdu as a primary application language; one study addressed Sindhi-language digital learning; no standalone study was identified for Punjabi. The only study covering all three target languages simultaneously (Hassan et al., 2025) demonstrated measurable speech production gains and significantly improved compliance. Quality scores ranged from 5 to 9 out of 10; three studies were rated High quality, one Moderate–High, two Moderate, and one Moderate–Low. The direction of reported effect was uniformly positive across all core studies, though only two employed validated, standardised outcome instruments in controlled designs. Conclusion: Urdu-language mobile applications for ASD and SCD children in Pakistan demonstrate feasibility and positive usability but lack controlled efficacy evidence. Punjabi represents a critical and entirely unaddressed evidence gap despite representing the primary language of Pakistan's largest population. Prioritised development and rigorous evaluation of Punjabi- and Sindhi-language mobile ASD applications are urgently needed to meet international inclusive education mandates and ensure linguistically equitable intervention access.

Visual processing undergoes rapid refinement in the first year of life, supporting the emergence of higher-order cognitive, language, and motor functions. Visual evoked potentials (VEPs) provide a non-invasive measure of visual system maturation that may shed light on heterogeneous developmental trajectories among infants at high familial likelihood for autism. Infants with an older sibling with autism spectrum disorder (N = 177 at 6 months; N = 132 at 12 months) participated in the Infant Brain Imaging Study-Early Prediction (IBIS-EP) study. Pattern-reversal VEPs were recorded at 6 and 12 months, and developmental skills were assessed at 24 months using the Bayley Scales of Infant and Toddler Development (Bayley-III). VEP components were characterized by P1 amplitude, latency, and trial-to-trial variability in latency. Associations with 24-month cognitive, language, and motor scores were examined using general linear models controlling for age, site, sex, and trial count. Robust VEPs were observed at both timepoints, showing age-appropriate morphology and expected developmental changes, including decreases in P1 latency and amplitude from 6 to 12 months. Greater trial-to-trial variability in P1 latency at both timepoints was significantly associated with higher cognitive and language scores at 24 months. Variability in visual cortical response timing was the strongest neural correlate of developmental skills in infancy. These findings suggest that temporal variability in early neural responses may reflect adaptive sensory circuit flexibility rather than inefficiency, potentially facilitating experience-dependent tuning of visual pathways. VEPs offer a mechanistic window into how developing sensory systems scaffold individual differences in early developmental trajectories.

Background: Existing ward capacity models in mental health settings focus on bed availability and safe staffing, but neglect other crucial factors related to the delivery of care. Increasing complexity of needs in children and young people in tier 4 inpatient services have highlighted the importance of establishing an alternate resource-based ward capacity model. The study aimed to develop an objective tool to understand resource-based ward capacity. Method: Focus groups were used to adapt the Universal Needs Based Resource Assessment (UNBRA) tool—which evaluates the support needed for people living with intellectual disability—to assess the needs of children and young people experiencing mental health issues. Results: The UNBRA tool is useful for objectively determining resource requirements and capacity for children and young people in inpatient services. It enables intra- and interpersonal comparison as well as comparison between different wards. Conclusions: The UNBRA tool helps to establish resource-based ward capacity and can aid decisions on safe admissions, resource allocation and system-wide bed management. Implications for practice: Introducing the UNBRA tool for children and young people in tier 4 inpatient settings can result in needs-led resource allocation, and enable planning on a clinical, managerial and strategic level. This can have a significant positive impact on patient safety, quality of care and patient outcomes.

The authors declare no conflicts of interest. Data sharing is not applicable to this article as no data sets were generated or analysed during the current study.

ABSTRACT Sex chromosome aneuploidies are associated with a wide range of neurodevelopmental outcomes, and notably, confer risk for cognitive impairments with varying degrees of severity. Yet, to date, few studies have compared multiple cognitive outcomes between different sex chromosome aneuploidy karyotypes, and it remains unclear how cognitive variation is linked to other elements of functioning. Leveraging high-dimensional data from a large battery of standardized neurocognitive tasks, we systematically characterize cognition across domains among 167 individuals with sex chromosome aneuploidy (n = 102 XXY/Klinefelter syndrome, n = 65 XYY) aged 5–25 years. These profiles of cognition are then compared between sex chromosome aneuploidy groups and related to measures of adaptive functioning, caregiver strain, and psychopathology. Age-normed scores and z-scores describe the cognitive performance across fifteen scales within XXY/Klinefelter syndrome and XYY syndrome relative to instrument-provided population norms. These profiles are compared between groups, revealing an overall intensification of impairment among the XYY group versus the XXY/Klinefelter syndrome group. The relationships between cognitive scores and adaptive functioning are found to be largely congruent between groups, while we find heterogeneity in the relative coupling of cognitive scores and psychopathology. This multidimensional characterization and comparison of cognitive abilities in XXY/Klinefelter syndrome and XYY syndrome contributes to our understanding of X- versus Y-chromosome dosage effects on neurodevelopment, with the potential to inform karyotype-specific targeting of assessment and intervention that may have unique impacts on functioning.