1. RETRACTION: Autism Spectrum Disorder Detection Using Facial Images: A Performance Comparison of Pretrained Convolutional Neural Networks. Healthc Technol Lett. 2026; 13(1): e70095.

[This retracts the article DOI: 10.1049/htl2.12073.].

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2. Meeting the psychiatric needs of people with intellectual and developmental disabilities: A statement of the International Society of Psychiatric-Mental Health Nurses (ISPN). Arch Psychiatr Nurs. 2026; 63: 152159.

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3. Alasiri A, Al-Jabri B, Abukhaled M, Aldhalan H, Al Eman N, Almogren S, Alodah N, Alhamoudi S, Alyazidi A. Diagnostic Yield of Whole Exome Sequencing in Autism Spectrum Disorder Patients at a Tertiary Center in Saudi Arabia. J Autism Dev Disord. 2026.

PURPOSE: Autism spectrum disorder (ASD) is a clinically and genetically heterogeneous neurodevelopmental condition. Whole‑exome sequencing (WES) is a pivotal diagnostic tool, though its yield varies across populations. This study aimed to determine the diagnostic yield and characterize the genetic spectrum identified by WES in a pediatric ASD cohort from Saudi Arabia. METHODS: We conducted a retrospective cohort study of 288 children (< 14 years) with DSM‑5‑confirmed ASD who underwent clinical WES at a tertiary center between 2021 and 2024. Variants were classified according to ACMG/AMP guidelines. RESULTS: The overall diagnostic yield for pathogenic or likely pathogenic variants was 30% (86/288). Variants of uncertain significance were identified in 22% (63/288) of patients. Recurrently affected genes included SHANK3, SCN2A, SYNGAP1, CAMK2A, GRIN2B, and CNTNAP2. Notably, variants in GFAP, a gene primarily associated with Alexander disease, were found in six patients presenting with ASD, macrocephaly, and developmental delay. CONCLUSIONS: WES provided a molecular diagnosis in 30% of this Saudi ASD cohort. The identification of GFAP variants raises the hypothesis that astrocytic dysfunction may play a role in a subset of ASD cases, though this finding requires independent replication and functional validation. These results underscore the clinical utility of WES and highlight the need for population‑specific genomic resources.

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4. Babaei S, Honarmand H, Bonyadi M, Maddahi B, Ebadi Z, Barzegar M. A de novo NR2F1 c.330 C > A variant in Bosch-Boonstra-Schaaf optic atrophy syndrome presenting with early-onset developmental and epileptic encephalopathy. Mol Biol Rep. 2026; 53(1).

BACKGROUND: Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare autosomal dominant neurodevelopmental disorder caused by pathogenic variants in the NR2F1 gene. The syndrome is characterized by a complex phenotype including optic nerve atrophy, global developmental delay, intellectual disability, and seizures. We report a patient with this syndrome whose prominent clinical presentation included developmental and epileptic encephalopathy (DEE). Due to overlapping clinical features with other neurodevelopmental disorders, clinical diagnosis remains challenging, necessitating molecular genetic studies. PATIENT PRESENTATION: The proband was a 14.5-month-old female who presented with early-onset neurological symptoms, including severe hypotonia, global developmental delay, drug-resistant seizures, bilateral optic atrophy, hearing loss, and structural brain anomalies. METHODS AND RESULTS: Whole-exome sequencing (WES) revealed two novel heterozygous variants: a nonsense variant in ARF3 (NM_001659.3:c.295C>T, p.Arg99*) and a missense variant in NR2F1 (NM_005654.6: c.330C>A, p.Phe110Leu). Sanger sequencing segregation analysis demonstrated that the ARF3 variant was inherited from the clinically unaffected father, indicating it is unlikely to be the primary causative variant. In contrast, the NR2F1 variant was confirmed to be de novo. The NR2F1 variant was absent in a local control cohort of 500 healthy individuals and in major population databases. CONCLUSION: The novel NR2F1 variant was classified as likely pathogenic according to ACMG guidelines, confirming the diagnosis of BBSOAS. The ARF3 variant, identified as a secondary finding of uncertain clinical significance, is unlikely to account for the patient’s phenotype; however, reporting this variant may facilitate future interpretation of ARF3-associated disease. This is the first reported case of BBSOAS in an Iranian patient.

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5. Blanco-Martínez N, González-Devesa D, Varela S, Carballo-Afonso R, Ayán-Pérez C. Impaired Motor Competence in Children and Adolescents With Autism Spectrum Disorder: Evidence From a Systematic Review and Meta-Analysis. Autism Res. 2026: e70347.

Autism spectrum disorder (ASD) is frequently associated with motor difficulties that may affect daily functioning, participation in physical activity, and developmental outcomes. Although motor impairments have been widely reported in this population, comparative evidence against typically developing (TD) peers remains fragmented across studies and assessment tools. This systematic review and meta-analysis aimed to examine whether children and adolescents with ASD show lower motor competence than TD peers and to identify the most affected motor domains. A systematic search was conducted in Scopus, Web of Science, PubMed, and SPORTDiscus up to December 10, 2025. Studies were eligible if they included children or adolescents with ASD and TD controls and assessed motor competence using standardized instruments. A total of 42 studies involving 3142 participants were included. The most frequently used tools were the Movement Assessment Battery for Children, the Bruininks-Oseretsky Test of Motor Proficiency, and the Test of Gross Motor Development. Across studies, children and adolescents with ASD consistently showed poorer performance than TD peers in manual dexterity, aiming and catching, balance, locomotor skills, and object control. Meta-analytic findings also indicated that participants with ASD had greater odds of presenting motor difficulty and being classified within the at-risk range. Despite heterogeneity and methodological limitations, the overall evidence supports a broad pattern of lower motor competence in ASD. These findings reinforce the importance of early motor assessment and targeted intervention in clinical and educational contexts.

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6. Christian RB, Annis IE, deJong NA, Davis SA, Hughes PM, Thomas KC. Medication Growth Following Diagnosis of Intellectual and Developmental Disabilities at Varying Ages Throughout Childhood. Pharmacoepidemiol Drug Saf. 2026; 35(9): e70456.

PURPOSE: To characterize age-related trajectories in psychotropic medication and polypharmacy use among children newly diagnosed with intellectual and developmental disabilities (IDD), addressing an evidence gap in longitudinal prescribing patterns. METHODS: This study uses a retrospective longitudinal cohort design and commercial insurance claims from the southeast (2011-2021) to study children newly diagnosed with IDD, aged 2-17 years (N = 938). Psychotropic medication use was defined as ≥ 1 prescription fill per year; polypharmacy as ≥ 2 classes used concurrently for ≥ 60 days. Generalized linear mixed models with natural cubic splines describe longitudinal growth trajectories as a function of age at first IDD diagnosis and follow-up year, adjusting for gender, cohort year and region of residence. RESULTS: Within 3 years of diagnosis, 40.1% of children initiated psychotropic medication, and 9.4% experienced sustained polypharmacy. Medication use increased with each follow-up year among children diagnosed before age 12. For example, children diagnosed at age 2 had a 2.34-fold increase in medication use by year 3 versus year 1 (95% CI: 1.56-3.53) and nearly a sixfold increase in polypharmacy (OR = 5.89; 95% CI: 2.89-11.99). In contrast, children diagnosed during adolescence showed higher initial use but minimal growth. Psychiatric comorbidities also increased with time, particularly among younger children. CONCLUSION: Children diagnosed with IDD at younger ages experience steep increases in psychotropic medication use over time, including sustained exposure to polypharmacy. Additional research on long-term benefits and harms of psychiatric medication use is needed. This paper provides new evidence on growth in psychotropic medication and polypharmacy use among children newly diagnosed with intellectual and developmental disabilities (IDD). We studied commercial insurance claims from 938 children and adolescents. Children diagnosed with IDD at younger ages experience steep increases in psychotropic medication use over time, including sustained exposure to polypharmacy. In contrast, children diagnosed during adolescence showed higher initial use but minimal growth. Findings suggest that future research on long‐term benefits and harms of psychiatric medication use is needed. Clinicians should explore behavioral therapies and non‐medical supports as important substitutes or complements to psychotropic medication. eng.

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7. Elbasan B, Cangur EY, Efkere PA, Gucuyener K. Effects of Safe Early Intervention Approach: A 3-Year Follow-Up. Brain Behav. 2026; 16(8): e71675.

PURPOSE: Early intervention improves developmental outcomes in infants at risk. The SAFE early intervention approach has been found to be effective across multiple developmental domains. The aim of this study was to comparatively report the 3-year follow-up outcomes of the SAFE early intervention approach. METHODS: The study included children aged 2 and 3 years who had been identified as being at neurodevelopmental risk during early infancy and had received either the SAFE early intervention approach or a Neurodevelopmental Treatment (NDT)-based intervention. This follow-up study was based on a doctoral dissertation that originally enrolled 41 infants. At follow-up, 22 children were assessed at 2 years of age (13 SAFE, 9 NDT) and 19 children at 3 years of age (11 SAFE, 8 NDT). Development was evaluated using the Bayley Scales of Infant and Toddler Development, Third Edition (Bayley-III), and sensory processing was assessed using Dunn’s Sensory Profile (7-36 months). Longitudinal changes in Bayley-III composite scores were analyzed using two-way repeated-measures analysis of variance following multiple imputation for missing data, while sensory processing outcomes were compared cross-sectionally. RESULTS: Cognitive and language composite scores improved significantly from 2 to 3 years of age in both the SAFE and NDT groups (p < 0.05), whereas no significant change was observed in motor composite scores. No significant between-group differences were identified in cognitive, language, or motor composite scores at either assessment point, and no significant group × time interactions were found for any Bayley-III composite score (p > 0.05). Cross-sectional analyses of sensory processing revealed significant differences in selected domains in favor of the SAFE group at both 2 and 3 years of age (p < 0.05). CONCLUSION: Both the SAFE and NDT approaches supported developmental progress over time. Although no differences were observed in developmental trajectories between the groups, the SAFE approach showed potential advantages in selected aspects of sensory processing. Further studies with larger samples and longer follow-up periods are needed to confirm these findings.

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8. Feder JD, Davis A. Further Considerations on Autism Diagnosis. JAMA Pediatr. 2026.

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9. Fombonne E, Liao L. Further Considerations on Autism Diagnosis-Reply. JAMA Pediatr. 2026.

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10. Gričar N, Bucik V, Bratun U. Sensory Issues and Occupational Participation in Adolescents and Young Adults with Autism: A Scoping Review. Phys Occup Ther Pediatr. 2026: 1-18.

AIMS: People with autism spectrum disorder (ASD) may experience hypo- or hyperreactivity to sensory input. To date, sensory features of ASD have mostly been studied in children, with people over the age of 18 underrepresented in research. Therefore, this scoping review focuses on sensory factors affecting the everyday lives of adolescents and young adults with ASD. METHODS: The review followed the Joanna Briggs Institute guidelines and included peer-reviewed studies of people with ASD aged 15-29 years who have sensory challenges affecting their occupational engagement and participation. Literature was searched in five electronic bibliographic databases. Records identified from the initial database search (n = 2,959) were imported into Rayyan and screened blindly. RESULTS: Qualitative content analysis was performed on six qualitative studies that met the inclusion criteria using Atlas.ti. Three categories were developed: (1) interconnectedness of social and sensory experiences, (2) individual pursuit of balance, and (3) achieving and sustaining professional competence. CONCLUSIONS: This review suggests that sensory processing challenges profoundly influence occupational participation in young people with ASD, affecting not only their subjective experience but also their access to social, academic, and professional environments. Developing individualized sensory supports and environment adaptations are crucial for promoting meaningful occupational engagement and well-being.

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11. Hsu HT, Hsu CT. Further Considerations on Autism Diagnosis. JAMA Pediatr. 2026.

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12. Nikić K, Folz J, van Dijk A, Janowicz V, Suslow T, Kret ME, Koelkebeck K. Altered Affective Egocentricity in Autism: Implications for Facial Emotion Perception. J Autism Dev Disord. 2026.

PURPOSE: Affective egocentricity, the tendency to project one’s own affect onto others, appears reduced in those with alexithymia, a condition often linked to autism. This study investigated the relationship between self-reported affectivity (implicit and explicit) and emotion perception (accuracy, perceived intensity) as well as facial muscle responses (corrugator supercilii, zygomaticus major) in autism. METHODS: Autistic adults (N = 40) and a non-autistic comparison group (N = 40) watched facial expressions whilst recorded (fEMG) and judged the stimuli afterwards. RESULTS: For explicit affect, non-autistic participants showed affective egocentricity, with positive state affect linked to lower accuracy in recognizing angry expressions. In contrast, autistic participants showed an altered pattern, where positive state affect was associated with improved recognition of angry and fearful faces. For implicit affect, autistic participants showed an affect-incongruent link between negative affect and lower perceived intensity of fearful faces. When controlling for alexithymia, explicit state affect differences became more pronounced, but non-significant for implicit affect. CONCLUSION: These findings offer new insights into how affect shapes social perception in autism differently and highlight the need to better understand the mechanisms underlying these differences and their potential strengths.

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13. Schiano-Visconte M, Balasco L, Casarosa S, Bozzi Y. Microglia, cerebellar inflammation, and autism spectrum disorders: Developmental mechanisms and therapeutic perspectives. Neuroscience. 2026; 609: 36-45.

Autism spectrum disorders (ASD) are neurodevelopmental conditions characterized by deficits in social interaction and communication, as well as restricted and repetitive behaviors. These conditions often co-occur with medical issues linked to synaptic alterations, which compromise synaptic integrity and are associated with brain circuit dysfunction. Both human and animal studies have identified cerebellar structural and functional alterations in subsets of ASD cases, with evidence of abnormal morphology and disrupted connectivity correlating with symptom severity. Numerous studies further suggest that neuroinflammation and microglia dysfunction may contribute to atypical cerebellar development during critical postnatal windows and may be associated with ASD-like phenotypes. However, the timing and mechanisms underlying the onset of these processes remain unclear, and a primary causal role in human ASD has not been established. This review synthesizes current knowledge on microglia in early stages of cerebellar development and discusses how cerebellar inflammation could be linked to ASD-related phenotypes. A better understanding of these pathological processes and their behavioral correlates may reveal opportunities for early-life intervention strategies.

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14. Uku OG, Gbaa T, Okeme A. Caregiver Burden in Autism Spectrum Disorder: Insights from A Tertiary Hospital in West Africa. Niger Med J. 2026; 67(3): 974-87.

BACKGROUND: Caregiving for children with autism spectrum disorder is associated with substantial psychological, social, and financial burden, particularly in low-resource settings. This study aimed to assess the magnitude and determinants of caregiver burden among caregivers of children with ASD in a tertiary hospital in Nigeria. METHODOLOGY: This cross-sectional study analysed 420 caregivers of children aged 2-18 years diagnosed with autism spectrum disorder, which was conducted at Benue State University Teaching Hospital (2020- 2023). The Stress Process Model was used, and the Caregiver burden was assessed using the Zarit Burden Interview (ZBI-22). Child behavioural difficulties, financial hardship, and affiliate stigma were evaluated using structured scales. Data were analysed using Pearson correlation and multiple linear regression. RESULTS: The mean ZBI score indicated moderate-to-severe burden. Overall, 60% of caregivers experienced moderate-to-severe or severe burden. Significant correlations were observed between caregiver burden and child behavioural difficulties (r = 0.58, p < 0.001), financial hardship (r = 0.38, p < 0.001), and affiliate stigma (r = 0.45, p < 0.001). In multivariate analysis, all three factors independently predicted caregiver burden, with the overall model explaining 52.8% of variance (Adjusted R(2)= 0.528). CONCLUSION: Caregiver burden in ASD is substantial and driven by behavioural, financial, and sociocultural factors. Interventions must integrate behavioural support, financial assistance, and stigma reduction strategies to improve caregiver well-being.

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