1. Bozduman Çelebi S, Akdağ B, Cimbar H, Dağ C, Topal F, Noyan B, Önal H. Developmental outcomes of children with biotinidase deficiency and the psychological state of their parents. Eur J Pediatr;2025 (Mar 10);184(3):236.

This study aimed to explore the developmental outcomes of children with biotinidase deficiency (BD) and the psychological well-being of their parents. The cohort comprised 61 children diagnosed with BD who were followed at the Department of Pediatric Metabolism of Başakşehir Çam and Sakura City Hospital in Istanbul, along with their parents. The control group comprised 49 children who were admitted to the pediatric outpatient clinic during the same period and did not have any chronic physical diseases or previous psychiatric admissions, and their parents. The current findings indicated that children with BD did not show significant developmental delays compared to the control group, with no notable differences in intelligence scores between the groups. Interestingly, parents of children with BD reported lower levels of state anxiety than those of the control group, although no significant differences were observed for other mental health metrics. CONCLUSION: These findings imply that early diagnosis and intervention through newborn screening could help alleviate developmental and psychological challenges for children and their parents. WHAT IS KNOWN: • Children who receive biotin supplementation before the onset of symptoms generally develop, while those who are untreated may exhibit developmental delays. • Having a child with a metabolic disease can adversely affect a parent’s psychological well-being. WHAT IS NEW: • Children diagnosed with BD through newborn screening did not show significant developmental delays compared to the control group, with no notable differences in intelligence scores between the groups. • Parents of children with BD reported lower levels of state anxiety than those of the control group, although no significant differences were observed for other mental health metrics.

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2. Cipriani C, Camaioni A, Tartaglione AM, Giudice M, Conti A, Petrone V, Miele MT, Matteucci C, Garaci E, Calamandrei G, Toschi N, Sinibaldi-Vallebona P, Ricceri L, Balestrieri E. Activation of endogenous retroviruses characterizes the maternal-fetal interface in the BTBR mouse model of autism spectrum disorder. Sci Rep;2025 (Mar 10);15(1):8271.

Endogenous retroviruses (ERVs) are genetic elements derived from a process of germline infection by exogenous retroviruses. Some ERVs have been co-opted for physiological functions, and their activation has been associated with complex diseases, including Autism Spectrum Disorder (ASD). We have already demonstrated an abnormal expression of ERVs in the BTBR T + tf/J (BTBR) mouse model of ASD during intrauterine life till adulthood. Thus, starting from the assumptions that ERVs may contribute to the derailment of neurodevelopment and that ASD has fetal origins as a consequence of adverse intrauterine conditions, the present study aims to characterize the transcriptional activity of selected ERVs (MusD, IAP, Syn-A, Syn-B, ARC and GLN), LINE-1, inflammatory mediators (IL-6, IL-10, IL-11 CXCL-1) at the maternal-fetal interface and in dissected embryos from BTBR mice. Our results highlight the deregulation of ERVs and inflammatory mediators at the maternal-fetal interface, and in cephalic and non-cephalic embryonic tissues from BTBR compared to C57BL/6 J. Several correlations among ERV expression levels emerged in different tissues from C57BL/6 J mice while, in BTBR mice, no correlations were found, suggesting that in this model, the acquisition of autistic-like traits might be linked to the dysregulation of ERV activity occurring during intra-uterine life.

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3. De la Cerna-Luna R, Chacon-Obregon W, Del Carpio-Samaniego P, Igei-Chiney A, Taype-Rondan A. Characteristics of preterm infants in pediatric rehabilitation at a referral hospital in Peru. Bol Med Hosp Infant Mex;2025;82(1):44-53.

BACKGROUND: Prematurity is associated with a higher risk of disability. However, no studies on this population in rehabilitation settings in Peru have been found. This study aims to describe the characteristics of preterm infants at the Pediatric Rehabilitation Service of Hospital Nacional Edgardo Rebagliati Martins (SRP-HNERM). METHOD: A cross-sectional descriptive study was conducted. Medical records of preterm infants at SRP-HNERM from September 2023 to February 2024 were reviewed. The Hammersmith Infant Neurological Examination (HINE), General Movements Assessment (GMA), and other outcome measures were used for evaluation. RESULTS: A total of 158 preterm infants were evaluated. During hospitalization, 51.3% were evaluated by a physiatrist, 47.5% received physical therapy, and 51.3% had feeding and swallowing disorders (FSD). After discharge, all patients were evaluated by a physiatrist at SRP-HNERM. Among infants with ≥ 44 weeks of corrected gestational age (CGA), 48.1% showed some degree of developmental delay, with global delay present in 34%. Of those with ≥ 48 weeks of CGA, 54.9% had an optimal HINE score. Normal GMA was observed in 51.2% of infants with ≤ 5 months of CGA. A higher frequency of global developmental delay was found in infants who had FSD during hospitalization and a lower frequency in those who had neonatal jaundice. CONCLUSIONS: Slightly more than half of the preterm infants were evaluated by a physiatrist, had FSD during hospitalization, had an optimal HINE score at ≥ 48 weeks of CGA, and had a normal GMA at ≤ 5 months of CGA. The presence of FSD during hospitalization should alert clinicians to a higher risk of global developmental delay in this population.

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4. Hunt AD, Jaeggi AV. The DCIDE framework: systematic investigation of evolutionary hypotheses, exemplified with autism. Biol Rev Camb Philos Soc;2025 (Mar 11)

Evolutionary explanations of mental disorders are a longstanding aim of evolutionary psychiatry, but have suffered from complexities including within-disorder heterogeneity and environmental effects of contemporary societies obscuring possible ancestral functions. Studying the relevant processes of human evolution directly is not possible, so hypotheses have remained speculative, exaggerating « just-so storytelling » critiques. This is despite significant evidence existing in genetics, neuroscience and epidemiology, all of which bears some inferential relevance to evolutionary hypotheses, but which is often not marshalled in a systematic way. To utilise this evidence best to investigate evolutionary explanations of psychiatric (or other) traits we present a novel framework of evidence synthesis and analysis and exemplify it by systematically reviewing evidence related to autism. In the five stages of this « DCIDE framework » analysis, Description identifies a trait to explain and Categorisation initially excludes verifiably non-adaptive cases by utilising evidence from genetics, neuroscience, and environmental factors. Integration then hones a target for adaptive explanation by considering evidence of age of onset, environmental effects, duration, prevalence and sex differences, incorporating relevant correlated traits visible to selection. Evolutionary hypotheses are then Depicted and Evaluated for their ability to explain all the evidence at hand, using standardised areas of evidence and theoretically motivated principles (e.g. traits arising at birth and lasting for life have different plausible explanations than traits arising in adolescence and receding in adulthood). Competing evolutionary hypotheses can thus be systematically compared for their sufficiency in explaining a wide range of available evidence. In the DCIDE review of autism, when Described with current diagnostic criteria, up to 20% of cases Categorise as non-adaptive, primarily caused by de novo mutations and environmental trauma. The remaining cases are eligible for adaptive explanation. For Integrating genetically correlated phenotypes, evidence of high prevalence of subclinical familial traits and camouflaged female cases is necessary. Competing Depictions contrast a high intelligence by-product hypothesis with social niche specialisation for high « systemising » cognition. In Evaluation, broad evidence supports the social niche hypothesis while the intelligence by-product hypothesis fails to predict various lines of evidence. This provides not only the most robust synthesis of autism research relevant to evolutionary explanation to date, but is a first example of how the structure of the DCIDE framework can allow improved systematic evolutionary analysis across psychiatric conditions, and may also be adopted to strengthen evolutionary psychology more generally, countering just-so storytelling and cherry-picking critiques.

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5. Koenig J, Bishop L. Using National Survey Data to Estimate Healthcare Communication Disparities for Adults With Intellectual and Developmental Disabilities. J Intellect Disabil Res;2025 (Mar 11)

BACKGROUND: Previous studies have identified considerable health outcome disparities for adults with intellectual and developmental disabilities (IDD) as well as poor or ineffective communication between adults with IDD and their medical providers. METHODS: Using National Health Interview Survey (NHIS) data, this paper uses logistic regression to estimate disparities in healthcare communication and satisfaction between adults with IDD, adults with non-IDD disabilities, and adults with no reported disabilities, controlling for sociodemographic characteristics. Communication quality is measured with survey questions about whether medical providers are respectful, ask for patients’ opinions, and offer understandable medical information. RESULTS: We identified sizeable disparities in communication quality and satisfaction between adults with non-IDD disabilities and no reported disabilities. Adults with IDD experienced significantly lower odds of receiving understandable information compared to adults with no reported disabilities. There are suggestive evidence that adults with IDD have lower odds of being satisfied with healthcare, having their opinion asked, and feeling respected. CONCLUSIONS: There are healthcare communication and satisfaction disparities between adults with and without IDD or other disabilities. Future research should characterise the size and exact nature of these disparities in communication quality and satisfaction for those with IDD. These findings can inform interventions and trainings to improve communication quality and satisfaction for those with all forms of disability.

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6. Leadbitter K, Langhorne S, Smallman R, Chu P, Ellis C, Harrison L, Hutton T, Butter C, Goldie C, James K, Hackett L, Dunkerley A, Bee P, Shields G, Davies L, Emsley R, Green J. Clinical effectiveness of an online psychoeducational and psychotherapeutic programme for caregivers of children newly diagnosed as autistic: a parallel, assessor-masked, randomised controlled trial in the UK (REACH-ASD). Lancet Psychiatry;2025 (Apr);12(4):289-302.

BACKGROUND: Caregivers of autistic children experience particularly poor levels of mental health and increased caregiving complexities. Proactive post-diagnostic family support is recommended but is inconsistently implemented, largely not evidence based, and does not directly address caregiver mental health. This study aimed to test the clinical effectiveness of the Empower-Autism programme plus treatment as usual versus the usual local post-diagnostic psychoeducation offer plus treatment as usual on caregiver mental health at the 52-week follow-up. METHODS: We did a prospective, multicentre, two-parallel-group, randomised controlled superiority trial of the Empower-Autism programme. Empower-Autism is a group-based, manualised, post-diagnostic programme designed to improve the mental health of caregivers of newly diagnosed autistic children. The programme combines autism psychoeducation and psychotherapeutic components based on Acceptance and Commitment Therapy and was delivered online via videoconferencing. Participants were recruited from 11 North-West England autism diagnostic or intervention centres and were parents or primary caregivers of children aged 2-15 years given an autism diagnosis within the past 12 months. Exclusion criteria were insufficient English language skills, significant learning disability, hearing or visual impairment, or psychiatric condition in caregiver and significant current family safeguarding concerns. Participants were randomly assigned to the intervention or treatment as usual (2:1), stratified by centre. Assessors were masked to group assignment but participants were not. The primary outcome was caregiver mental health assessed by the General Health Questionnaire-30 at 52 weeks. All outcomes were analysed following an intention-to-treat approach using linear mixed models on available cases in the first instance, which resulted in a modified intention-to-treat set due to missing data. Sensitivity analyses on multiply imputed data reflected the full intention-to-treat set. People with lived experience were involved in the trial across all stages. The trial was prospectively registered (ISRCTN 45412843) on Sept 11, 2019, and is complete. FINDINGS: Between Sept 16, 2020 and April 14, 2022, 835 potential participants were referred and screened, 384 provided consent, and 379 caregivers were recruited, 255 of whom were randomly assigned to the intervention group and 124 to the treatment as usual group. 333 (88%) participants were female and 46 (12%) were male, with a mean age of 40·6 years (SD 7·3; range 23-69). 294 (78%) of the 379 caregivers were White British, 18 (5%) were White Other, 12 (3%) were Mixed or of multiple ethnicity, 32 (8%) were Asian or Asian British, 16 (4%) were Black or Black British, six (2%) were from any other ethnic group, and one (<1%) had missing ethnicity data. 267 (70%) index children were male, 111 (29%) were female, and one (<1%) was non-binary or other, with a mean age 8·9 years (SD 3·5; range 2·0-16·0). In the available case analysis set (n=319) reflecting a modified intention-to-treat set due to missing data, participants randomly assigned to Empower-Autism had improved mental health at 52 weeks compared with those randomly assigned to treatment as usual (General Health Questionnaire-30 mean difference -4·95 [95% CI -8·21 to -1·68], p=0·0030). 181 adverse events (116 in the Empower-Autism group and 65 in the treatment as usual group) and 15 serious adverse events (nine in the Empower-Autism group and six in the treatment as usual group) were reported; none were deemed to be related to the study intervention. The most common adverse events concerned significant deteriorations in the mental health of caregiver participants or index children and other serious personal issues potentially affecting caregiver mental health. INTERPRETATION: To our knowledge, this is the first fully powered trial to show a statistically and clinically significant sustained effect on mental health in caregivers of newly diagnosed autistic children. In the context of the considerable clinical need in this area, we recommend the use of the Empower-Autism programme to clinicians and policy makers. FUNDING: National Institute for Health and Care Research Health Technology Assessment Programme.

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7. Li S, Hua R, Han X, Xu Y, Li M, Gao L, Ma R, Meng W, Mao A, Wang J, Wang Y. Targeted long-read sequencing facilitates effective carrier screening for complex monogenic diseases including spinal muscular atrophy, α-/β-thalassemia, 21-hydroxylase deficiency, and fragile-X syndrome. J Transl Med;2025 (Mar 11);23(1):307.

BACKGROUND: Next-generation sequencing (NGS) has been applied for carrier screening, effectively reducing the incidence of severe diseases. However, some severe, high-prevalent and complex diseases, including spinal muscular atrophy (SMA), α-/β-thalassemia, 21-hydroxylase deficiency (21-OHD), and fragile-X syndrome (FXS), cannot be fully addressed by NGS, resulting in a high residual risk ratio. This study aims to evaluate the clinical utility of a long-read sequencing (LRS) panel for carrier screening of these five complex diseases. METHODS: A total of 2926 participants were retrospectively enrolled from International Peace Maternity and Child Health Hospital from Jan 2019 to Dec 2022. All the participants were previously screened for 149 genes correlated to 147 diseases by NGS. The samples were collected and analyzed with the LRS panel targeting the five complex diseases. RESULTS: LRS identified 236 carrier variants, including 54 for SMA, 113 for α-thalassemia, 19 for β-thalassemia, 47 for 21-OHD, and three for FXS. NGS identified only 56.4% (133/236) of the variants detected by LRS. NGS failed to detect three SMA carriers with SMN1 intragenic variants, while reported 10 false-positive carriers for α-thalassemia (HKαα miscalled as -α3.7). Both 21-OHD and FXS were beyond its detection scope. NGS identified only three of the seven at-risk couples determined by LRS. The total estimated at-risk couple rate for 151 genes in NGS and LRS panels was 1.0996%. SMA, α-/β-thalassemia, 21-OHD, and FXS were among the top 30 high-prevalent diseases and had a combined at-risk couple rate of 0.2433%, accounting for 22.1% of the total ratio. NGS could only identify 22.7% of the at-risk couples for the five diseases in the LRS panel. CONCLUSIONS: Comprehensive carrier screening for high-prevalent diseases had higher clinical utility than expanding the list of low-prevalent diseases. Incorporating LRS into the NGS carrier screening strategy would facilitate more effective carrier screening.

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8. McCabe C, Cahalan S, Pincus M, Rosenberg-Lee M, Graves WW. Neural correlates of reading aloud on the autism spectrum. Sci Rep;2025 (Mar 10);15(1):8240.

Individuals with autism can show intact decoding (i.e., ability to recognize and pronounce written words accurately). However, reading comprehension (i.e., ability to infer meaning from written text) in autistic individuals is often lower than expected based on age or grade level. Having intact decoding skills despite potentially atypical reading comprehension suggests altered reading pathways in autism, particularly when processing semantics (i.e., word meaning). To test for neural differences in word processing between autistic and non-autistic younger adults, we examined behavioral and neural responses to reading aloud words and pronounceable nonsense words (pseudowords). Additionally, we manipulated word imageability, word frequency, and word and pseudoword spelling-sound consistency as probes for different components (i.e., orthography, phonology and semantics) of the reading system. Behaviorally, the autistic group had a greater reduction in reaction time as word imageability increased. Neurally, pseudoword consistency effects, a probe of spelling-sound mappings without semantics, were only observed in the autistic group, where increased consistency was associated with decreased activity in bilateral intraparietal sulcus. Also compared to the non-autistic group, the autistic group showed greater effects of word consistency, where increasing word consistency was associated with increasing activation in the bilateral posterior superior temporal gyrus and ventral occipitotemporal cortex. Finally, the autistic group showed stronger effects of pseudoword consistency than the non-autistic group, that is increasing pseudoword consistency was associated with decreasing activation in the left ventral occipitotemporal cortex. Together, these results point to differences in how neural resources are used for reading, with more bilateral areas recruited during spelling-sound decoding in autistics to achieve comparable performance to non-autistics.

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9. Milton D, Moore A, Martin N. From humble beginnings: Reflections on 10 years of the Participatory Autism Research Collective. Autism;2025 (Mar 11):13623613251319887.

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10. Prakasam R, Determan J, Chapman G, Narasimhan M, Shen R, Saleh M, Kaushik K, Gontarz P, Meganathan K, Hakim B, Zhang B, Huettner JE, Kroll KL. Autism- and intellectual disability-associated MYT1L mutation alters human cortical interneuron differentiation, maturation, and physiology. Stem Cell Reports;2025 (Mar 11);20(3):102421.

Myelin transcription factor 1 like (MYT1L) is a neuronal transcription factor highly expressed in the developing and adult brain, and, while pathogenic MYT1L mutations cause neurodevelopmental disorders, these have not been characterized in human models of neurodevelopment. Here, we modeled the consequences of pathogenic MYT1L mutation using human stem cell-derived cortical neurons, demonstrating that MYT1L mutation alters the differentiation trajectory, increasing neuronal gene expression, morphological complexity, and synapse production. We also examined consequences of MYT1L mutation in mature cortical interneurons, identifying hallmarks of impaired neuronal identity and maturation and correspondingly altered channel expression and electrophysiological properties. Finally, by defining MYT1L genome-wide occupancy in cortical interneurons, we identified direct MYT1L targets likely to mediate these phenotypes. Together, this work elucidates new MYT1L requirements for human cortical interneuron development and demonstrates how pathogenic MYT1L mutation perturbs this developmental program, contributing to the etiology of neurodevelopmental disorders.

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11. Qin Q, Fan L, Zeng X, Zheng D, Wang H, Li M, Jiang Y, Wang H, Liu H, Liang S, Wu L, Liang S. Mesenchymal stem cell-derived extracellular vesicles alleviate autism by regulating microglial glucose metabolism reprogramming and neuroinflammation through PD-1/PD-L1 interaction. J Nanobiotechnology;2025 (Mar 11);23(1):201.

Neuroinflammation triggered by microglia activation is hallmark of autism spectrum disorder (ASD), and this process includes crucial metabolic reprogramming from oxidative phosphorylation to glycolysis, which may cause neuron loss and functional impairment. The inhibitory immune checkpoint programmed cell death protein 1 (PD-1) on immune cells is an important target for tumor immunotherapy. However, the immunomodulatory effects of PD-1 in ASD remains to be elusive. Mesenchymal stem cell-derived extracellular vesicles (MSC-EVs) exhibit immunomodulatory capabilities in a range of neurological diseases. Our findings indicated the expression of PD-L1 on MSC-EVs, potentially facilitating signaling to PD-1-expressing microglia. Here, we showed how MSC-EVs activated of PD-L1/PD-1 axis and ameliorated glycolysis, neuroinflammation and autism-like behaviors. After first detecting elevated glycolysis and neuroinflammation in prefrontal cortex (PFC) tissue from the maternal immune activation (MIA) mice, we also demonstrated that PD-1 expression level was upregulated in microglia. Following given MSC-EVs carried PD-L1 into adult MIA offspring mice via intranasal administration, which bound with PD-1 on microglia and then the autism-like behaviors were alleviated as well. Further experiments verified that MSC-EVs could decreased the level of glycolysis and neuroinflammation by PD-1/ERK/HIF-1α pathway in the primary microglia in PFC of MIA offspring mice. Pharmacological blockade and genetic inhibition of PD-1 could weaken the effect of MSC-EVs and aggravate microglial dysfunction, glycolysis and autism-like behaviors in MIA offspring mice. Futhermore, PD-L1 deficient weakened the effect of MSC-EVs on neuroinflammation, glycolysis and autism-like behaviors in MIA offspring mice. Our research indicated the significant immunomodulatory capabilities of MSC-EVs, which play an important role in reprogramming microglial glucose metabolism and suppressing neuroinflammation in ASD. By activating the PD-L1/PD-1 axis and inhibiting the downstream ERK/HIF-1α pathway, MSC-EVs were found to alleviate autism-like behaviors, which revealing a novel pathological mechanism and offering promising therapeutic insights into ASD.

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12. Shen G, Green HL, McNamee M, Franzen RE, DiPiero M, Berman JI, Ku M, Bloy L, Liu S, Airey M, Goldin S, Blaskey L, Kuschner ES, Kim M, Konka K, Miller GA, Edgar JC. White matter microstructure as a potential contributor to differences in resting state alpha activity between neurotypical and autistic children: a longitudinal multimodal imaging study. Mol Autism;2025 (Mar 11);16(1):19.

We and others have demonstrated the resting-state (RS) peak alpha frequency (PAF) as a potential clinical marker for young children with autism spectrum disorder (ASD), with previous studies observing a higher PAF in school-age children with ASD versus typically developing (TD) children, as well as an association between the RS PAF and measures of processing speed in TD but not ASD. The brain mechanisms associated with these findings are unknown. A few studies have found that in children more mature optic radiation white matter is associated with a higher PAF. Other studies have reported white matter and neural activity associations in TD but not ASD. The present study hypothesized that group differences in the RS PAF are due, in part, to group differences in optic radiation white matter and PAF associations. The maturation of the RS PAF (measured using magnetoencephalography(MEG)), optic radiation white matter (measured using diffusion tensor imaging(DTI)), and associations with processing speed were assessed in a longitudinal cohort of TD and ASD children. Time 1 MEG and DTI measures were obtained at 6-8 years old (59TD and 56ASD) with follow-up brain measures collected ~ 1.5 and ~ 3 years later. The parietal-occipital PAF increased with age in both groups by 0.13 Hz/year, with a main effect of group showing the expected higher PAF in ASD than TD (an average of 0.26 Hz across the 3 time points). Across age, the RS PAF predicted processing speed in TD but not ASD. Finally, more mature optic radiation white matter measures (FA, RD, MD, AD) were associated with a higher PAF in both groups. Present findings provide additional evidence supporting the use of the RS PAF as a brain marker in children with ASD 6-10 years old, and replicate findings of an association between the RS PAF and processing speed in TD but not ASD. The hypothesis that the RS PAF group differences (with ASD leading TD by about 2 years) would be explained by group differences in optic radiation white matter was not supported, with brain structure-function associations indicating that more mature optic radiation white matter is associated with a higher RS PAF in both groups.

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13. Siracusano M, Stellato M, Carloni E, Miccolo G, Riccioni A, Moavero R, Voci A, Valeriani M, Galasso C, Pompili A, Pizzuti A, Bernardini L, Goldoni M, Mazzone L. Autism spectrum disorder and 3p24.3p23 triplication: a case report. J Med Case Rep;2025 (Mar 10);19(1):106.

BACKGROUND: The role of copy number variants as genomic mutations causative of neurodevelopmental disorders has been recently established. They can act as risk factors of conditions with multifactorial etiopathogenesis and incomplete penetrance, such as nonsyndromic autism, and, in this case, are often inherited from an unaffected parent. Conversely, dominant syndromes, with high penetrance, can be caused by de novo occurring variants. CASE PRESENTATION: We describe the clinical case, with a detailed characterization of the neuropsychiatric profile, of an almost 3-year-old white (Italian) male child with autism spectrum disorder, developmental delay, mild dysmorphic traits, and congenital anomalies (cardiac septal defects, gliotic changes, thinned corpus callosum, and arachnoid cyst), carrying a 13 Mb de novo 3p24.3p23 triplication. CONCLUSION: Our case suggests that the 3p24 chromosome region could be associated with a syndromic form of autism spectrum disorder and contribute to delineate its distinct clinical features. The extent of the de novo variant described herein is suggestive of pathogenicity, although the genes potentially responsible for the patient’s phenotype are not easy to identify. We hypothesize that the dysregulation of SATB1, already associated to two syndromes (developmental delay with dysmorphic facies and dental anomalies and Den Hoed-De Boer-Voisin syndrome) with a phenotypic spectrum comparable to that of our patient, could be responsible for the clinical phenotype of this case, although the exact pathogenetic mechanism remains to be determined.

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14. Steiner-Hofbauer V, Pintér YA, Mittmann G. Comparing the portrayal of #autism and #neurodiversity on TikTok: creators, content, and representation. Wien Med Wochenschr;2025 (Mar 11)

BACKGROUND: Social media is a significant source of information on health-related topics and neurodevelopmental disorders such as autism spectrum disorder (ASD). The public perception of ASD, as reflected on social media, can raise awareness but also increase stigma. This study examined ASD portrayal on TikTok, focusing on neurodiversity, content themes, creator identities, and the depiction of autistic individuals. MATERIALS AND METHODS: This exploratory study analyzed 100 TikTok videos: the 50 most-watched for #autism and the 50 most-watched for both #autism and #neurodiversity. The study reviewed metadata and content using publicly available data. RESULTS: Videos from the #autism sample encompassed 97% of all views and primarily portrayed entertaining content. Neurodiversity videos were more educational and less popular. Creators and portrayed individuals were primarily white. Adult autistic individuals are more ferequently represented in the #neurodiversity sample (30%), but children sill appear frequently (30% in the # neurodiversity and 38% in the #autism sample). Healthcare professionals (HCPs) were absent in the autism sample but appeared in 32% of neurodiversity videos. CONCLUSION: The portrayal of ASD differed widely in both samples. Both samples underrepresented ethnic minorities. As TikTok shapes public perception of ASD, HCPs should be aware of trending ASD-related content on TikTok in order to be able to combat misinformation.

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15. Sumra B, Kocherry C, Shamim H, Jhakri K, Al-Shudifat M, Mohammed L. Impact of Omega-3 Fatty Acids on Cognitive Outcomes in Children With Autism Spectrum Disorder: A Systematic Review. Cureus;2025 (Mar);17(3):e80291.

Autism spectrum disorder (ASD) is defined as a complex neurodevelopmental disorder that is characterized by a set of deficits not limited to social communication, which is restricted and repetitive behaviors. The prevalence of autism has been seen to be consistently increasing globally. Autism is multifactorial in its etiology, and it involves several physiological systems, including the central nervous system and the gut-brain axis. Omega-3 fatty acids are essential for neural development and functionality, particularly eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA). They both play a crucial role in not only reducing the neuroinflammation associated with autism but also supporting cognitive processing as well. Given the low levels of omega-3 noted in ASD individuals, this systematic review aims to assess the influence of omega-3 supplementation on cognitive outcomes in children with ASD. The systematic review was done following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, where different databases were assessed across PubMed, Science Direct, Cochrane Library, Google Scholar, and Scopus. MeSH terms used included keywords « Omega-3 », « EPA », « DHA » AND « Autism Spectrum Disorder » OR « ASD ». Articles published between 2007 and 2023 that focused on ages 2 to 18 years were screened, and cognitive outcomes relevant to omega-3 supplementation were included. Studies with inadequate access to full text excluded non-human trials and older individuals. After generating 25,312 articles, 211 were selected for further review, with 11 meeting the inclusion criteria. The articles reviewed panned over five different countries that involved omega-3 supplementation lasting up to one year. Results suggested that DHA and EPA supplementation may improve cognitive functions such as memory, attention, and executive functioning in children with ASD. The prefrontal cortex development was associated with DHA supplementation, whereas EPA showed improved emotional regulation and reduced neuroinflammation. However, conclusive results were not reached as there was variability in study designs, different dosages, and assessment methods. The power of the studies conducted was also noted to be limited. While promising, extensive research and trials are required to standardize the dosage of omega-3 and the length of intervention. Future studies should aim to identify the long-term effects of omega-3 supplementation, understand the gut-brain axis, and investigate the combination of omega-3 with other therapies to improve cognitive functioning.

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16. Turna M, Eckert J, Meier-Böke K, Narava M, Chaliani I, Eickhoff SB, Schilbach L, Dukart J. Real world evidence for altered communication patterns in individuals with autism spectrum disorder. NPJ Digit Med;2025 (Mar 11);8(1):155.

Adults with autism spectrum disorder (ASD) may compensate for their social difficulties by resorting to more sequential forms of communication. Here, we study communication preferences in individuals with ASD and neurotypical controls by monitoring smartphone-based communication for verbal, written, and mixed app categories over a period of four months. We find ASD participants to prefer written over verbal communication, underscoring the importance of considering these preferences to facilitate social integration.

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17. Wang X, Chen M, Mei D, Shi S, Guo J, Gao C, Wang Q, Zhao S, Yan X, Zhang H, Wang Y, Guo B, Zhang Y. Somatostatin-expressing interneurons of prefrontal cortex modulate social deficits in the Magel2 mouse model of autism. Mol Autism;2025 (Mar 11);16(1):18.

Dysfunction in social interactions is a core symptom of autism spectrum disorder (ASD). Nevertheless, the neural mechanisms underlying social deficits in ASD are poorly understood. By integrating electrophysiological, in vivo fiber photometry, viral-mediated tracing, optogenetic and pharmacological stimulation, we show reduced intrinsic excitability and hypoactivity of SOM interneurons in medial prefrontal cortex (mPFC) in Magel2-deficient mice, an established ASD model, were required to social defects. Chemogenetic inhibition of mPFC SOM-containing interneurons resulted in reduced social interaction in wild-type Magel2 mice. These sociability deficits can be rescued by optogenetic activation by excitability of SOM in the mPFC and mPFC(SOM)-LS inhibitory pathway in Magel 2 knockout mice. These results demonstrate the hypoactivity for SOM action in the mPFC in social impairments, and suggest targeting this mechanism that may prove therapeutically beneficial for mitigating social behavioral disturbances observed in ASD.

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