1. Bai L, Hei Y, Tian R, Zhang H, Xin H, Yang Y, Ge L, Lv Y, Mu X, Gai Z, Liu G, Gao L, Zhang K. Detection of pathogenic novel intronic splicing variants in the KIDINS220 gene causes motor developmental delay. Artif Cells Nanomed Biotechnol;2026 (Dec);54(1):74-84.

Pathogenic variants in the KIDINS220 gene can cause SINO syndrome (OMIM #617296), VENARG syndrome (OMIM #619501), or other neurological and metabolic disorders such as obesity and nystagmus. We identified two novel intronic variants in intron 29 of KIDINS220 gene (NM_020738.4), c.4054-2A > G and c.4054-7T > C, in a female patient presenting with motor dysfunction and developmental delay. Brain MRI revealed delayed myelination. To investigate whether these intronic variants cause aberrant splicing and affect protein expression, we sequenced KIDINS220 cDNA from peripheral blood and concurrently performed a minigene splicing assay. The results indicated that KIDINS220 was not expressed in PBMCs. However, the minigene assay demonstrated that the c.4054-2A > G variant causes an in-frame 336-bp deletion in exon 30, resulting in a 112-amino acid deletion in the C-terminal region of KIDINS220 (p.(Ser1352_Ser1463del)). In contrast, the c.4054-7T > C variant did not disrupt normal splicing. Based on the patient’s clinical features and functional validation of the genetic variants, our paediatricians established a diagnosis of mild motor dysfunction and developmental delay. Our findings broaden the spectrum of pathogenic variants underlying KIDINS220-related disorders and provide essential information for genetic counselling.

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2. Chen Y, Tsou M, Nelson CA, Tager-Flusberg H, Wilkinson CL. Resting state aperiodic and periodic EEG activity in preschool-aged autistic children: differences from neurotypical peers and links to language skills. Mol Autism;2026 (Jan 10)

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3. Edwards C, Love AMA, Cai RY, Constable PA, Love DC, Parmar K, Gowen E, Doherty M, Gibbs V. Improving eye care access for autistic people: applying the autistic SPACE framework. Clin Exp Optom;2026 (Jan 11):1-4.

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4. Garg H, Pandey A, Anushree N, Garg S, Mohan KR. Acute Pisa syndrome in a 4-year-old child with autism spectrum disorder: The youngest reported case of risperidone-induced extrapyramidal reaction. Asian J Psychiatr;2026 (Jan 7);117:104838.

BACKGROUND: Pisa syndrome is a rare extrapyramidal disorder characterized by sustained lateral flexion of the trunk, typically associated with antipsychotic medications. Though well-described in adult populations, its occurrence in children is exceedingly rare, with no previously reported cases in children under 12 years of age for drug-induced etiology. CLINICAL DESCRIPTION: We report the case of a 4-year-old boy with autism spectrum disorder (ASD), receiving risperidone (0.5 mL BID) for behavioural issues, on continued behavioural therapy, who developed acute onset painful lateral flexion of the trunk-clinically consistent with Pisa syndrome. MANAGEMENT & OUTCOME: He was promptly treated with intravenous pheniramine maleate, with immediate resolution of symptoms. Risperidone was discontinued, and no recurrence was noted on follow-up. Causality assessment using the Pediatric Naranjo Adverse Drug Reaction Probability Scale yielded a score of 7, indicating a probable adverse drug reaction to risperidone. CONCLUSION: This case underscores the importance of early recognition of rare extrapyramidal side effects such as Pisa syndrome in children on atypical antipsychotics. Clinicians should maintain a high index of suspicion, even in very young children, and be aware of effective management strategies.

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5. Hayden EM, Walker MF. A Case of Fragile-X Associated Tremor/Ataxia Syndrome Presenting with Hemichorea and Strabismus. Mov Disord Clin Pract;2026 (Jan 11)

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6. Kandeğer A, Allison C, Çelik ME, Söylemez H, Bayırlı Ö, Selvi Y, Baron-Cohen S. Examining Social Barriers in Adults With ADHD: The Role of Autistic Traits, Empathy, Theory of Mind in Social Anxiety and Avoidance. Acta Psychiatr Scand;2026 (Jan 11)

INTRODUCTION: This case-control study examined social barriers in adults with ADHD compared to non-neurodivergent adults, focusing on autistic traits, cognitive/affective empathy, theory of mind (ToM), and social anxiety/avoidance. METHODS: A total of 142 adults with ADHD and 104 non-neurodivergent groups were assessed using the following self-report measures: the Adult ADHD Self-Report Scale, the Hospital Anxiety Depression Scale, the Autism Spectrum Quotient, the Empathy Quotient, and the Liebowitz Social Anxiety Scale. ToM was evaluated using the Reading the Mind in the Eyes Test. Additionally, psychiatric interviews were conducted, incorporating diagnostic evaluation via the Structured Clinical Interview for DSM-5 Disorders-Clinician Version, along with collection of sociodemographic and clinical data, and documentation of real-life narratives of social struggles to contextualize and deepen the interpretation of the quantitative findings. RESULTS: Adults with ADHD exhibited significantly higher levels of autistic traits and social anxiety/avoidance, along with lower cognitive and affective empathy scores, compared to controls, while ToM abilities did not differ significantly between groups. Moreover, regression analyses indicated that challenges in social skills and communication, low cognitive empathy, heightened affective empathy, and difficulties in attention switching accounted for variance in social anxiety/avoidance, independent of confounding sociodemographic and clinical factors, including the presence of co-occurring psychiatric conditions and the severity of ADHD, depression, and anxiety symptoms. CONCLUSION: While adults with ADHD exhibit intact basic ToM abilities, challenges in social-cognitive processes are associated with their social barriers. Targeted interventions such as social skills training, executive function coaching, and anxiety management may improve social outcomes and quality of life, as also highlighted by the real-life narratives-although further longitudinal, multi-method research is warranted.

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7. Tian L, Hu Z, Baptitian IA, Zhao G, Gao L. Systematic Review and Meta-Analysis of Abnormal Pubertal Timing in Children With Autism Spectrum Disorder (ASD). Autism Res;2026 (Jan 11)

This study aimed to synthesize evidence on the risk and patterns of abnormal pubertal timing, including precocious puberty (PP) and altered onset, in children with autism spectrum disorder (ASD) compared with typically developing (TD) peers. We conducted a systematic review and meta-analysis following the PRISMA guidelines, searching PubMed (n = 51), Web of Science (n = 91), and Cochrane Library (n = 19). After removing duplicates (n = 40), we screened 121 records and assessed 31 full-text articles, with 12 meeting the inclusion criteria (3 cohort studies on PP; 9 cohort studies on pubertal timing). Random-effects meta-analyses were performed to calculate pooled hazard ratios (HRs) for PP and standardized mean differences (SMDs) for pubertal timing. Study quality was assessed using the Newcastle-Ottawa Scale (NOS). Meta-analysis of three studies (42,017 ASD children; 3,424,004 TD children) revealed a significantly higher risk of PP in ASD children (pooled HR = 3.64; 95% CI: 1.42-9.34; P = 0.007), with an absolute risk difference of 1.13% (prevalence: 1.2% in ASD vs. 0.07% in TD), indicating that 88 ASD children would need monitoring to identify one additional case of PP; this risk was particularly pronounced in females with ASD. In contrast, nine studies (856 ASD children; 648 TD children) found no significant overall difference in pubertal timing (SMD = -0.22; 95% CI: -0.91-0.46; P = 0.52), despite high heterogeneity (I(2) = 96%). Funnel plot asymmetry suggested potential publication bias or methodological variations (e.g., confounder adjustments, diagnostic criteria). Sensitivity analysis confirmed the association between ASD and PP but highlighted instability in the effect size. Children with ASD exhibit a 3.6-fold increased relative risk of PP, particularly in females, though the absolute prevalence is low and the certainty of evidence is very low (per Grading of Recommendations Assessment, Development and Evaluation [GRADE] criteria), primarily due to high heterogeneity (I(2) = 91%-96%) and potential biases. No consistent differences in pubertal timing were observed between ASD and TD children, likely reflecting methodological inconsistencies. Clinicians should enhance vigilance for PP in ASD children, without the need for routine screening. Future studies should adopt standardized, multi-method assessments to refine these findings. Children with autism, especially girls, are 3–4 times more likely to experience early puberty compared to other children, according to our review of 12 studies. While we didn’t find consistent differences in when puberty starts overall, the wide variation between studies suggests autism may affect puberty differently in different children. These findings highlight the importance of doctors monitoring puberty in autistic children and the need for more personalized research in this area. eng

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8. Xuan DS, Li HX, Sun YB, Liu YC, Wang GY, Xing QN, Shang HL, Cheng MY, Lu L, Zhang XA, Zhao X. Altered dynamic functional stability of resting-state brain activity in autism spectrum disorder: A multicenter fMRI study. J Affect Disord;2026 (Jan 11):121143.

BACKGROUND: Autism spectrum disorder (ASD) is a highly heterogeneous neurodevelopmental condition, and its underlying neural mechanisms remain poorly understood. METHODS: In this study, we investigated neural patterns and mechanisms of ASD using a voxel-wise measure of dynamic functional stability-Kendall’s concordance coefficient-derived from whole-brain dynamic functional connectivity in a large, multicenter fMRI dataset. Furthermore, we explored the relationship between brain activity and behavioral measures. Finally, we performed a whole-brain functional connectivity (FC) analysis using the above three significant clusters as seed points. RESULTS: ASD showed altered dynamic functional stability in three regions, with increased stability in the left frontal pole and reduced stability in the right central opercular cortex and left postcentral gyrus. Left frontal pole stability was positively associated with ADOS communication scores, whereas left postcentral gyrus stability was negatively associated with stereotyped behaviors. Seed-based FC analyses revealed decreased FC between the left postcentral gyrus and widespread sensorimotor-parietal regions in ASD. Symptom-connectivity analyses further showed broad negative correlations between FC and ADOS scores: reduced frontal and sensorimotor connectivity was linked to more severe communication and social impairments. CONCLUSION: Our study revealed abnormal temporal stability of functional brain activity in ASD, thereby enhancing our understanding of ASD pathogenesis. Moreover, this dynamic stability analysis may serve as a reliable tool for early autism diagnosis.

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9. Yuan J, Guo T, Rozear H, Dupre ME, Malhotra R, Xu H. Racial and ethnic disparities among older adults with autism spectrum disorder: a scoping review. Aging Ment Health;2026 (Jan 11):1-10.

OBJECTIVES: Although more older adults are living with autism spectrum disorder (ASD), research has focused mainly on younger individuals. Emerging evidence suggests that racial/ethnic disparities may further hinder timely diagnosis and care for older adults with ASD. This scoping review maps existing research on these disparities among older adults with ASD. METHOD: A systematic database search was conducted from 01/15/2025 to 01/30/2025 across PubMed, PsycINFO, and Scopus. The PCC (Population, Concept, Context) framework was used to identify peer-reviewed, data-based studies published in English that focused on adults aged 60 years and older with ASD and explicitly addressed racial/ethnic disparities. RESULTS: Eight of 4,179 articles met the inclusion criteria. All included studies were observational, with the majority (n = 7) conducted in the United States. Racial/ethnic minority older adults with ASD face persistent disparities across the ASD care continuum. Black, Hispanic, and Asian/Pacific Islander older adults were less likely to be dually eligible for Medicare and Medicaid compared to their White counterparts. Additionally, racial/ethnic minority older adults with ASD showed a higher burden of physical and psychological comorbidities but lower likelihood of receiving treatment for their comorbidities. Racial/ethnic minority older adults with ASD had lower rates of outpatient service utilization and reduced access to supportive accommodations compared to their White counterparts. CONCLUSION: Current research on racial/ethnic disparities among older adults with ASD remains limited; this research gap highlights an urgent need for more inclusive, population-specific studies to advance understanding and promote equity at the intersection of aging, autism, and healthcare access.

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