Pubmed du 18/08/25
1. Anthony CS, Agbo CE, Ogieuhi IJ, Ajekiigbe VO, Agu MC, Ayomide JH, Oyetola EO, Adejumo TP, Umenzeakor KH, Akinmeji O, Ajimotokan OI, Matthew OA, Ikekwere JC. Caregiving for children with autism in africa: A scoping review of socioeconomic impact with a call for intersectoral collaboration. Eur Child Adolesc Psychiatry. 2025.
Autism is a neurodevelopmental condition recognized as a significant global public health concern. However, there is limited understanding of the socioeconomic impact on caregivers in Africa. This scoping review synthesizes evidence from studies across African nations to examine the socioeconomic burdens faced by caregivers of children with autism. An extensive literature search was conducted across databases including PubMed, Scopus, Web of Science, and African Journals Online (AJOL) using appropriate keywords and Boolean operators. The articles were screened for eligibility, ensuring that only studies conducted in Africa and reporting the socioeconomic impact on caregivers of children with autism were included. Data was extracted and synthesized thematically. Quality assessment was done using the CASP tool. Out of the 450 studies generated across the databases, 15 studies published between 2017 and 2025 met the eligibility criteria. The studies involved were all conducted in African countries. Caregivers experienced direct financial burdens such as expenses for healthcare, special dietary requirements, education, and transport. Indirect financial burden included poor productivity and job losses. Additionally, the caregivers experienced psychosocial effects such as depression, grief, stigma, and social exclusion, especially the mothers. Across the studies, most caregivers had challenges in accessing socialized therapy and healthcare services due to poor infrastructure. The demands of autism cause a significant financial burden and social exclusion for caregivers in Africa. Poor access to healthcare services and poor infrastructure further compound this burden, increasing the difficulties experienced by caregivers in Africa. Addressing the autism care crisis in Africa will require joint efforts from governments, NGOs, and health systems, training frontline workers to ensure fair and effective support for both caregivers and autistic individuals.
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2. Augusto JAO, Caravieri CK, Arduini RG, Brunoni D, Ciasca SM, Teixeira M. Delayed diagnosis in children with autism spectrum disorder or intellectual disability. Dement Neuropsychol. 2025; 19: e20240279.
In the developing countries, there is a long delay between parents’ first concerns and the diagnosis of neurodevelopmental disorders such as autism spectrum disorder (ASD) and intellectual disability (ID). OBJECTIVE: To verify the time interval between the first concerns reported by parents and the diagnosis of ASD and ID in a pediatric neurology outpatient clinic in the public health network in Brazil, and to verify any association between indicators of cognitive functioning and behavioral and emotional problems. METHODS: One hundred and six children diagnosed with ID (n=69) and ASD (n=37), with a mean age of 10.03 years; standard deviation (SD)=2.2. The inclusion criteria were diagnoses of ID and ASD, and the exclusion criteria were comorbid conditions such as attention-deficit/hyperactivity disorder and specific learning disorder. RESULTS: The mean age of reported first symptoms was 29.9 months (SD=19.5) for ASD and 37.9 months (SD=19.5) for ID; and the mean time from first concerns to diagnosis of ID was 6.8 years (SD=2.2) and 6.6 years (SD=2.7) for ASD. Children with ID scored significantly lower than those with ASD cognitive functioning (t [97]=-16.22, p<0.001). Children with ID had higher mean scores for externalizing problems (M=62.20; SD=11) and those with ASD had higher mean scores for internalizing problems (M=66.71; SD=10.01). CONCLUSION: The results indicated a late diagnosis in the sample and, given the mental health care received, the data highlight the need for training primary care professionals to identify and diagnose ASD and ID at an early stage.
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3. Calub CA, Iosif AM, Hertz-Picciotto I, Schweitzer JB. Trajectory of Irritability in Autistic and Typically Developing Youth From Early Childhood to Adolescence. Autism Res. 2025.
This study examines changes in irritability from early childhood to adolescence and differences by diagnostic group, sex, and early childhood nonverbal and verbal abilities. Participants included 243 autistic (AUT) and 194 typically developing (TD) children, with 20% of participants being female, 47% identifying as non-White, and 26% identifying as Hispanic. Data were drawn from the CHARGE (Childhood Autism Risks from Genetics and the Environment) Study, which evaluated children at ages 2-5 years and followed up during pre- (ages 8-12) or late (ages 15-19) adolescence through the ReCHARGE Study. Irritability was higher in the AUT group than in the TD group across all time points; participants overall experienced a decrease in irritability over time. A three-way interaction among sex, diagnosis, and time emerged in late adolescence but not in pre-adolescence, and this effect remained significant even after adjusting for early cognitive abilities. Specifically, TD males and females, and AUT males, showed reductions in irritability, while AUT females exhibited persistently high irritability. In pre-adolescence, higher early verbal and nonverbal cognitive abilities were linked to greater reductions in irritability regardless of diagnosis, whereas in late adolescence, only nonverbal ability predicted irritability change, with this effect specific to autistic youth. Higher levels of adolescent psychopathology were associated with less improvement in irritability, regardless of diagnostic group. Collectively, these findings reveal that while irritability generally decreases over time, its trajectory varies by diagnostic group, sex, and early cognitive ability-highlighting the importance of early identification and interventions, particularly in autistic females, targeting irritability to support positive long-term outcomes.
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4. Centanni TM, Gunderson LPK, Parra M. Use of a predictor cue during a speech sound discrimination task in a Cntnap2 knockout rat model of autism. PLoS One. 2025; 20(8): e0315883.
Autism is a common neurodevelopmental disorder that despite its complex etiology, is marked by deficits in prediction that manifest in a variety of domains including social interactions, communication, and movement. The tendency of individuals with autism to focus on predictable schedules and interests that contain patterns and rules highlights the likely involvement of the cerebellum in this disorder. One candidate-autism gene is contactin-associated protein 2 (CNTNAP2), and variants in this gene are associated with sensory deficits and anatomical differences. It is unknown, however, whether this gene directly impacts the brain’s ability to make and evaluate predictions about future events. The current study was designed to answer this question by training a genetic knockout rat on a rapid speech sound discrimination task. Rats with Cntnap2 knockout (KO) and their littermate wildtype controls (WT) were trained on a validated rapid speech sound discrimination task that contained unpredictable and predictable targets. We found that although both genotype groups learned the task in both unpredictable and predictable conditions, the KO rats responded more often to distractors during training as well as to the target sound during the predictable testing conditions compared to the WT group. There were only minor effects of sex on performance and only in the unpredictable condition. The current results provide preliminary evidence that removal of this candidate-autism gene may interfere with the learning of unpredictable scenarios and enhance reliance on predictability. Future research is needed to probe the neural anatomy and function that drives this effect.
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5. Cox G, Katz SL, Bijelić V, Barrowman N, Barwell T, Shamsi R, Blinder H, Cleroux M, Brunet M, Remedios J, Johansen T, Dussah N, Ersu R. Home video clips compared to polygraphy for obstructive sleep apnea diagnosis in children with autism spectrum disorder: A pilot study. Sleep Med. 2025; 134: 106737.
INTRODUCTION: Children with autism spectrum disorder (ASD) have higher prevalence of obstructive sleep apnea (OSA) than typically developing children. Polysomnography (PSG), the gold standard test is challenging for children with ASD. Polygraphy (PG) may be better tolerated, but more accessible screening tools are needed. We evaluated diagnostic characteristics of video clips for OSA in this pilot study. METHODS: Children 4-18 years with ASD referred for PSG for suspected OSA were recruited. Parents recorded 3 2-min home videos, scored for OSA presence using Monash score (MS, positive if ≥ 3). Participants completed the Pediatric Sleep Questionnaire (PSQ; positive if ≥ 0.33) and underwent home PG, scored by obstructive apnea hypopnea index (oAHI), oxygen desaturation index 3 % (ODI3; ≥4.3 and > 7 thresholds) and McGill Oximetry Score (MOS; positive if ≥ 2). Receiver-operator curves were used to compare diagnostic performance across tools for moderate-severe OSA (oAHI ≥5 events/hour). RESULTS: 26 children participated; 15 (median age 7.1) provided video clips. Median oAHI was 2.4/hr; 26.7 % had moderate-severe OSA. Fourteen (93.3 %) had PSQ ≥0.33, three had MOS ≥2. ODI3 was ≥4.3 in 7 and > 7 in 6 children. Median MS was 3.0. MS had 100 % sensitivity, 63.6 % specificity and AUC 78.4 for detecting moderate-severe OSA; average AUC increased when MS was combined with oximetry metrics. CONCLUSION: MS showed high sensitivity but low specificity in detecting moderate-severe OSA. MS outperformed PSQ and MOS, but not ODI3. MS may be a viable alternative screening tool to identify OSA in children with ASD but requires further validation.
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6. Farahani M, Jalali A, Ebrahimi M, Kazemi H. Xia-Gibbs syndrome in an 18-Year-Old Iranian girl: a case study of clinical features and genetic mutation. Mol Biol Rep. 2025; 52(1): 834.
BACKGROUND: Xia-Gibbs syndrome (XGS) is a rare, autosomal dominant genetic disorder characterized by a broad spectrum of neurological, motor, and developmental symptoms. This study presents the first reported case of XGS in Iran involving an 18-year-old girl with diverse clinical manifestations, including developmental delay, motor disorders, delayed puberty, and behavioral disturbances. Genetic analysis identified a de novo nonsense mutation in the AHDC1 gene (c.2062 C > T, p.(Arg688Ter)), resulting in a truncated and non-functional protein, which correlates with the patient’s symptoms. CONCLUSION: This case underscores the importance of early and accurate diagnosis of XGS and highlights the need for increased awareness among healthcare professionals, particularly in rare genetic disorders. Reporting such cases is crucial for enhancing understanding of the disease mechanisms and improving patient management.
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7. Gurijala A, Rushton E, Leahy SN, Nelson N, Tessier CR, Broadie K. Intersection of fragile X syndrome and glycogen storage disease models in metabolic neuromuscular junction requirements. Dis Model Mech. 2025.
A classic human patient comorbidity of Fragile X syndrome (FXS) and Glycogen Storage Disease Type IX (GSD) has symptoms far more severe than either single disease alone. Causal mutations result in loss of the translational regulator Fragile X Ribonucleoprotein 1 (FMRP) and metabolic regulator Phosphorylase Kinase Regulatory Subunit Alpha 2 (PHKA2), respectively. We hypothesized FMRP-PHKA2 interaction from unsustainably elevated metabolic demand. In Drosophila disease models, single null mutants are viable, but double knockout (DKO) animals exhibit 100% synthetic lethality, showing an essential interaction. Metabolically, dFMRP and dPHKA2 loss alone causes opposing changes in glycogen and fat stores, but DKO animals return both energy stores to normal. Regulatory Fat Body Protein-1 is elevated in single disease models, but likewise returned to normal in the DKO animals. In tests of neurological phenotypes, neuromuscular junction (NMJ) mitochondrial function, synapse architecture, and neurotransmission strength are all elevated by dFMRP loss, but these synaptic properties are restored to normal levels by co-removal of dPHKA2 in DKO animals. Thus, dFMRP and dPHKA2 strongly interact in metabolic and neuromuscular mechanisms, without explaining the DKO lethal interaction.
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8. Kaplan A, Malik S, Persaud NA, Ganti L. Exploring the Relationship Between Fragile X Syndrome and Autism: A Bibliometric Analysis of Global Research Trends. Cureus. 2025; 17(7): e88159.
Fragile X syndrome (FXS) is classified as a genetic disorder located in the fragile X messenger ribonucleoprotein-1 (FMR1) gene on the X chromosome. FXS is considered the most prevalent single-gene cause of intellectual disability and autism spectrum disorder (ASD). Understanding the complexity of FXS and ASD requires exploring the correlation between genetics, neuroscience, and behavioral science. This bibliometric analysis explores the data from 3,398 articles collected from the Web of Science database, focusing on FXS and ASD while relating it to the country, institution, keywords, and published data for each article. These publications were imported into VOSviewer to analyze authorship patterns, associated organizations, involved countries, and keywords. The Web of Science database provided graphical figures illustrating the number of publications over the past 25 years and the most prominent funding agencies. Treatments for ASD and FXS often overlap due to their shared characteristics and connections; however, despite numerous clinical trials, no effective treatments have been identified for either condition to date. Although multiple drugs showed potential in preclinical trials, they failed to improve symptoms during the later stages of the trials. This study aims to identify key trends, gaps, and networks with regard to current FXS and ASD research, providing insights to inform future research and the development of effective treatment modalities.
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9. Kataoka S, Nakai A, Nobusako S. Kinematic and kinetic characteristics of graphomotor skills in children with neurodevelopmental disorders: The impact of DCD, ADHD, and ASD traits. Hum Mov Sci. 2025; 103: 103388.
Interest in the development of handwriting skills has been increasing; however, there is no consensus on the handwriting abilities of children with developmental coordination disorder (DCD), attention-deficit/hyperactivity disorder (ADHD), and autism spectrum disorder (ASD), and the specific handwriting characteristics associated with each neurodevelopmental disorder remain unclear. This exploratory study examined the preliminary associations between graphomotor skills and neurodevelopmental traits in 17 children (aged 7-11 years) diagnosed with DCD, ADHD, or ASD. The evaluation included handwriting fluency assessments, kinematic/kinetic analyses, and assessments of neurodevelopmental disorder traits. The participants performed tracing tasks involving straight lines, sine waves, and triangular waves using the TraceCoder® system. Graphomotor kinematic/kinetic parameters, including deviation from the baseline, pen pressure, velocity, acceleration, jerk, and area, were quantified. Fluency was assessed using the Understanding Reading and Writing Skills of Schoolchildren II test. Neurodevelopmental traits were evaluated using the DCD Questionnaire, ADHD Rating Scale, and Autism Spectrum Quotient. Increased DCD, ADHD and ASD traits were correlated with deteriorations in graphomotor parameters, such as greater deviation, and increased acceleration, jerk, and pen pressure. In contrast, higher ASD traits were associated with improvements in handwriting fluency. These preliminary findings suggest that graphomotor characteristics may vary depending on specific neurodevelopmental traits, underscoring the potential value of tailored assessments and interventions.
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10. Li L, Zhu X, Wan S, Wang L, Pan L, Peng S, Chen J. Research on the improvement of daily living skills of children with autism in virtual campus environments. Sci Rep. 2025; 15(1): 30102.
This study investigated the effectiveness of daily living skills intervention training for children with autism in a virtual campus setting. First, six children with autism (age M = 10.50, SD = 2.22) participated in a 4-week experiment totaling 8.4 h. The effectiveness of the virtual school environment and the daily living skills intervention were used as indicators during data collection and processing. In addition, a series of 3D environments based on daily life were constructed using SketchUp Pro 2021, which were converted to virtual environments using Unreal Engine 4. The HTC Vive external headset facilitated intervention training for children with autism. Most importantly, the results demonstrated the effectiveness of interactive domains such as grabbing bread in a cafeteria environment, making a phone call in front of a school, and switching lights and picking up a book in a library environment, where participants showed significantly higher levels of performance (p < 0.05). Scores on the Social Communication Questionnaire (SCQ) for children with autism (M = 19.33, SD = 4.18) were lower than baseline values (M = 22.83, SD = 4.79), while scores on the Social Skills Questionnaire (SSQ) (M = 26.17, SD = 3.97) were higher than baseline values (M = 20.00, SD = 2.28), suggesting that the overall social effectiveness of the participants following the intervention improved (p < 0.05). In conclusion, the statistical analysis showed that participants who received the intervention had significantly improved daily living skills such as grabbing bread, making phone calls, changing lights, and picking up books.
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11. Magai DN, Berman BD, Mutua AM, Smythe T, Olusanya BO, Gulati S, Mwesige AK, Blaikie A, Lusobya RC, Coghill D, Gladstone M. Scoping review of evidence-based practice guidelines for the evaluation and care of young children with developmental disabilities in LMIC settings: evidence for action. BMJ Paediatr Open. 2025; 9(1).
INTRODUCTION: Childhood disability is increasingly prevalent, particularly in low-income and middle-income countries, as more children survive worldwide. Global practice guidelines are essential to address the need for timely identification, evaluation and management of children with developmental disabilities, particularly in resource-limited settings. This scoping review aims to summarise recent evidence-based practice guidelines for the assessment and care of children aged 0-5 years at risk or with developmental disabilities and identify those practice guidelines that are suitable for use across both global and resource-limited settings. METHODS: We searched PubMed, Scopus, CINAHL as well as websites for professional associations using Google to identify evidence-based practice guidelines for specific developmental disabilities with established global prevalence estimates. We identified additional literature through snowballing. Practice guidelines were included if they were published between September 2012 and June 2024, were in English, and demonstrated a systematic process of reviewing available evidence, which then provided information on the detection, diagnosis, treatment and management of children under five with developmental disabilities. Three reviewers independently screened results by title, abstract and full text. Study characteristics and outcome data were extracted, and results were narratively synthesised. RESULTS: 43 practice guidelines met the eligibility search criteria. Few evidence-based practice guidelines were generated from resource-limited settings (n=3, 7.0%). Of these, two were published in Malaysia and one from Cameroon. Most of the practice guidelines focused on both assessment and management (n=20, 46.5%), with some addressing only assessment (n=9, 20.9%) or management of the conditions (n=14, 32.6%). CONCLUSIONS: Practice guidelines focusing on the identification and support of children with developmental disabilities, chiefly published within high-income settings, are available to be selectively adapted and utilised across similar localities globally. All young children with developmental disabilities worldwide have the right to access equitable, timely and quality health and developmental care services.
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12. Malekpour M, Parhizkar M, Golabi F, Thompson R, Zakwani MA, Soleymanjahi S, Chohedri E. Exploring the shared genetic basis between autism spectrum disorder and gastrointestinal disorders: a bioinformatic study. Sci Rep. 2025; 15(1): 30086.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with early-appearing social communication deficits and repetitive behaviors. ASD is associated with various comorbidities, including gastrointestinal (GI) conditions. This study aims to identify shared genetic mutations between ASD, inflammatory bowel disease (IBD), and celiac disease through bioinformatics, to uncover mechanisms contributing to GI issues in ASD patients. In this study, databases including DisGeNET, Genome Wide Association Study (GWAS) Catalog, and Ensembl were utilized to identify variation disease associations (VDAs) for ASD, celiac disease and IBD. Shared VDAs were identified using the Molbiotools website and validated by reviewing original articles and resources provided by the databases. In our screening 2367 VDAs found for ASD, 458 for Celiac disease and 1912 for IBD. However, search across these databases revealed only 3 shared VDAs among ASD, celiac disease and IBD. These shared VDAs were found in the Methylenetetrahydrofolate reductase (MTHFR), Myosin IXB (MYO9B), and Transcobalamin 2 (TCN2) genes. However, the association between the TCN2 gene and celiac disease was not confirmed during the validation process. In this study, we investigated the shared genetic basis between ASD and genetically defined GI disorders based on previously published papers. The findings of this study provide valuable insights into the shared genetic basis of these diseases; however, further investigations are needed to understand these genetic implications.
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13. Özgür BG, Nasıroğlu S, Özbay HC, Aksu H. Sociodemographic and Clinical Characteristics of Children Who Lose the Autism Spectrum Disorder Diagnosis. Psychiatry Clin Psychopharmacol. 2025; 35(3): 253-60.
Background: The objective of this research is to present the demographic and clinical features of children diagnosed with autism spectrum disorder (ASD) in the past, who have achieved an optimal level of improvement. One of the recurrent inquiries of the parents of children with an ASD diagnosis pertains to the prognosis of their offspring and the potential for improvement. This study aims to investigate children who lose the ASD diagnosis (LAD). Methods: This study retrospectively reviewed the medical records of 1465 children and adolescents aged 0-18 who were diagnosed with ASD between December 2017 and June 2021, and followed up by a child and adolescent psychiatrist. The files of a total of 50 LAD patients were analyzed. In addition to sociodemographic information, the patient’s educational background, prenatal and postnatal complications, developmental milestones, other medical conditions, medications used, symptoms at the time of ASD diagnosis, and developmental/mental assessment results were also examined. Results: A sample of 50 cases was obtained and analyzed. The majority of the sample consisted of males, with a median age of 2.45 (min 1.17-max 7) years at the time of receiving the ASD diagnosis, and 5.5 (min 2.25-max 11.3) years at the time of losing the diagnosis. There was a positive and moderately significant relationship between the age of receiving the diagnosis and the age of losing the diagnosis (r=0.634, P < .001). Ninety-two percent of the sample received a mean of 2.29 ± 1.77 years of special education. Additionally, 26% of the sample still had an additional psychiatric diagnosis, with attention deficit hyperactivity disorder and speech sound disorder being the most common. Eighteen percent of the sample was found to be taking medication, primarily risperidone. Conclusion: This study shows that a subset of monitored children may lose their diagnosis, but further research to determine the clinical characteristics, symptomatology, and biological factors of this group of children will be more informative regarding optimal outcome processes.
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14. Patel K, Bouton D, Fitzgerald R, Guillaume T, Gupta P, Perra J, Szczodry M, Li Y. Outcomes of Growth-Friendly Surgery and Posterior Spinal Fusion in Children With Rett Syndrome and Early Onset Scoliosis. J Pediatr Orthop. 2025.
BACKGROUND: Rett syndrome (RS) is a rare neurodevelopmental disorder often associated with progressive scoliosis requiring treatment. Surgical interventions include magnetically controlled growing rods (MCGR) to allow spinal growth in younger patients or posterior spinal fusion (PSF) for definitive curve correction and stability. There is limited literature on outcomes of growth-friendly surgical treatment in RS patients with scoliosis. METHODS: This multicenter retrospective review included RS patients with scoliosis treated with MCGR or primary PSF with minimum 2-year follow-up. Demographics, radiographic measures, surgical data, complications, unplanned returns to the operating room, and EOSQ-24 scores were recorded pre- and postindex surgery. RESULTS: The study included 15 females with Rett syndrome. Five patients had MCGR and 10 underwent PSF. The mean age of the MCGR group was 8.5 years (range: 7.6 to 9.2) and the PSF group was 12.8 years (range: 10.1 to 17.7). Mean preindex major curve magnitude was similar between the MCGR and PSF patients [75 (range: 67 to 91) vs. 80 degrees (range: 53 to 116)]. At final follow-up, the PSF group achieved greater major curve correction than the MCGR group [35 (range: 21 to 58) vs. 42 degrees (range: 26 to 59)]. The MCGR group had greater mean preindex maximum kyphosis [71 (range: 53 to 89) vs. 57 degrees (range: 18 to 96)] but mean maximum kyphosis at final follow-up was similar between the MCGR and PSF patients [54 (range: 42 to 86) vs. 50 degrees (range 18 to 78)]. Mean preindex T1-T12 and T1-S1 lengths were shorter in the MCGR patients [T1-T12: 16.6 cm (range 13.8 to 19.7) vs. 19.4 cm (range: 14.8 to 23.2); T1-S1: 28.6 cm (range: 25.2 to 33.0) vs. 31.0 cm (range: 22.3 to 37.7)]. Final mean T1-T12 lengths were 22.2 cm (range: 19.8 to 25.4) for the MCGR group and 23.8 cm (range: 20.3 to 26.9) for the PSF group; mean T1-S1 lengths were 35.3 cm (range 31.9 to 40.8) and 36.9 cm (range: 32.3 to 42.6), respectively. There was one complication per group. One MCGR patient had acute respiratory failure requiring prolonged hospitalization, and one PSF patient had a wound infection requiring surgical intervention and antibiotics. MCGR patients showed declines in more EOSQ-24 domains than PSF patients between preindex surgery and last follow-up. CONCLUSIONS: Both MCGR and PSF effectively control scoliosis in RS patients. PSF provides superior coronal curve correction, while MCGR promotes spinal growth. The impact of spinal surgery on quality of life warrants further investigation. Larger studies are needed to validate these results and guide individualized treatment for this unique population. LEVEL OF EVIDENCE: Therapeutic level IV.
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15. Peterson T, Dodson J, Burgin S, Sherwin R, Strale F, Jr. Correction: Impacts of Hyperbaric Oxygen Therapy (HBOT) on Verbal Scores in Children With Autism: A Secondary Analysis of the HBOT Trial Using Multivariate Analysis of Variance (MANOVA). Cureus. 2025; 17(8): c245.
[This corrects the article DOI: 10.7759/cureus.69421.].
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16. Peterson T, Hosey T, Mosteller J, Sherwin R, Strale F, Jr. Correction: A Descriptive Study on the Impacts of Hyperbaric Oxygen Therapy on Autistic Individuals Using Parent Testimonies. Cureus. 2025; 17(8): c247.
[This corrects the article DOI: 10.7759/cureus.55648.].
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17. Peterson T, Sherwin R, Hosey T, Close N, Strale F, Jr. Correction: The Effects of Hyperbaric Oxygen Treatment on Verbal Scores in Children With Autism Spectrum Disorder: A Retrospective Trial. Cureus. 2025; 17(8): c248.
[This corrects the article DOI: 10.7759/cureus.51654.].
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18. Puri BK. The Association of Preterm Birth With Autism Spectrum Disorder. Biol Psychiatry Glob Open Sci. 2025; 5(5): 100559.
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19. Skaletski EC, Rodriguez RM, Gartland SG, Ausderau KK, Bishop L, Li JJ, Travers BG. Quality of Life in Autistic Children: Discrepancies Between Self- and Caregiver-Proxy Reports and Associations With Individual Characteristics. Autism Res. 2025.
Quality of life (QoL) is important for everyone and has been identified as a priority for autistic people. However, studies typically focus on caregiver-proxy-reported QoL and its related individual characteristics, even though self- and caregiver-proxy-reported QoL may differ in autistic children. In 74 autistic children (5.04-10.99 years old, intelligence quotient [IQ] 47-141), we sought to determine the level of agreement between self- and caregiver-proxy-reported QoL and determine if self- and caregiver-proxy-reported QoL are differently related to personal characteristics such as age, IQ, autism features, attention-deficit/hyperactivity disorder (ADHD) features, sleep difficulties, and sensory features. Findings suggested poor inter-rater agreement (ICC = 0.16) between self- and caregiver-proxy-reported QoL. Across both self- and caregiver-proxy reports, sensory features and sleep difficulties related to QoL, but age and IQ did not. We also found an interaction effect of reporter on the relation between QoL and both autism and ADHD features, with these associations driven by caregiver-proxy-reported QoL. These findings emphasize the importance of measuring both self- and caregiver-proxy-reported QoL to provide complementary perspectives. Moreover, these results underscore the importance of understanding a child’s sensory features and sleep difficulties, as these two areas were similarly related to both self- and caregiver-proxy-reported QoL.
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20. Sun S, Fears NE, Miller HL. Functional upper-extremity movements in autism: A narrative literature review. Res Autism Spectr Disord. 2024; 118.
BACKGROUND: Many autistic individuals exhibit clinically-significant motor difficulties. Previous reviews focused on overall motor ability or coordination, but with little attention paid to quantifying differences in upper extremity skills, which are critical to many activities of daily living. Our objective was to identify and evaluate the published literature on upper extremity motor skills of autistic people. METHOD: We conducted a literature search in PubMed, Scopus, and PsycInfo for empirical research articles reporting functional upper extremity movement performance in autism. We included articles reporting results of primary data collection from autistic people published before July 10, 2024. Articles were identified and data were extracted and evaluated using EndNote and Microsoft Excel by a team of three authors. RESULTS: Our search strategy yielded 1181 unique articles. After screening these articles, the final sample included 43 empirical research articles focused on functional upper extremity movements, including pointing (n = 13), reaching to grasp (n = 18), and handwriting (n = 12) in autism. Across these skills, autistic people exhibited slower, more variable movements than their non-autistic counterparts. CONCLUSIONS: Upper extremity movement differences in autism are likely the result of differences in motor planning and increased online monitoring of movement execution. Limitations and potential bias exist in the racial, ethnic, age, and gender diversity of available data, and in the variability of methods used to assess performance. However, the current body of literature suggests significant differences between autistic and non-autistic upper extremity movements. Slower, more variable upper extremity movements likely affect many functional difficulties experienced in autistic people’s daily lives.
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21. Suyama S, Itoh M, Tamura N, Iwata H, Yamaguchi T, Kobayashi S, Miyashita C, Saito T, Kishi R. Association between small for gestational age and neurodevelopmental disability at 5 years in the Hokkaido study. Pediatr Int. 2025; 67(1): e70137.
BACKGROUND: Low birth weight is a known risk factor for delayed growth and disability in children. It is assessed using a measure called small for gestational age (SGA). SGA children have an increased risk of neurodevelopmental disabilities, regardless of gestational age. We conducted this study to evaluate the effects of SGA on neurodevelopmental disability, particularly in SGA full-term newborns (term-SGA). METHODS: This study was conducted using a prospective birth cohort from the Hokkaido Study on Environment and Children’s Health. The mothers of 4851 children who reached the age of 5 years between April 2008 and November 2011 received questionnaires, including the strengths and difficulties questionnaire (SDQ). Neurodevelopmental disability was assessed using the SDQ. SGA infants, including term-SGA, were assessed by referring to the birth weight database of the Japan Pediatric Society. RESULTS: We received 3484 responses from the parents. Univariate analysis revealed a significant difference in hyperactivity/inattention and the total difficulties score (TDS) between groups defined as normal and borderline/clinical based on the TDS, for both SGA and term-SGA infants. In the multivariate analysis, sex, household income, and SGA and term-SGA status were significantly associated with TDS (term-SGA: odds ratio [OR] = 1.72; 95% confidence interval [CI], 1.07-2.76; SGA, OR = 1.75; 95% CI: 1.10-2.78). However, SGA and term-SGA status were not associated with hyperactivity/inattention. CONCLUSIONS: SGA, even at term, may predispose children to neurodevelopmental disability.
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22. Taylor JL, DaWalt LS, Burke MM, Xu M, Slaughter JC. Effects of a parent advocacy intervention on service access for transition-aged autistic youth: a multisite randomized controlled trial. J Child Psychol Psychiatry. 2025.
BACKGROUND: Autistic youth in the United States face many challenges accessing services as they transition to adulthood. Improving parents’ ability to advocate for services is a promising way to improve service access. The current study tested whether participation in an intervention to improve parents’ ability to advocate for adult services (called Advocating for Supports to Improve Service Transitions or ASSIST) led to increased service access for their transition-aged autistic youth. METHODS: Using a multisite, single-blind parallel-group design, we randomized 185 parents of transition-aged autistic youth to either a treatment condition that received the ASSIST intervention, or a control condition that received comprehensive written information about adult services. Primary outcomes for this report – number of government programs that fund services and direct services received by the youth – were collected via parental interview at baseline, six, and 12 months after intervention. RESULTS: Primary analyses found no significant treatment effects on service access. Subgroup analyses, however, detected treatment effects for families of youth who had exited high school prior to their families taking ASSIST. Among those families, youth from the treatment group were receiving more government programs that fund services at 6 months after intervention compared with youth from the control group. CONCLUSIONS: We cannot conclude from our findings that ASSIST improved access to services, though there was some evidence to suggest increased access to government programs that fund services for families of autistic youth who had exited high school. Future research should investigate which families can translate written information about adult services (i.e. the control condition) into improved service access, and which families need more individualized support beyond a group-based class to see improvements in service access.
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23. Tomljenovic V. Autism Spectrum Disorder in the Educational Context: A Detailed Case Report. Cureus. 2025; 17(7): e88149.
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by deficits in social communication and interaction, alongside the presence of repetitive and restrictive behaviours. The diagnosis is based on the criteria outlined in the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) and requires a multidisciplinary and longitudinal clinical approach. Early symptom identification and timely intervention significantly influence treatment outcomes and the child’s functional capacity. This case report presents a male child with pronounced developmental, communicative, and adaptive difficulties evident from early childhood. He demonstrated symptomatology indicative of ASD in at least three categories of the diagnostic manual. Throughout a multi-phased diagnostic and therapeutic process conducted over several years, the child exhibited difficulties in the processing of sensory stimuli, language deficits, emotional dysregulation, and limited adaptability to new social environments. Despite participation in a customized educational program and implementation of therapeutic interventions (integrative sensory therapy, speech-language pathology, psychopharmacology), the child’s schooling was marked by frequent behavioral decompensation and a strained collaboration between parents and the educational system. This report highlights systemic deficiencies in the care infrastructure for children with ASD, particularly concerning human resource limitations, inconsistent institutional support, and inadequate coordination between healthcare and educational services. The lack of clear jurisdiction and procedural guidelines hinders the establishment of optimal educational models. A comprehensive reform is imperative, aiming to develop an integrated, individualized, and professionally grounded support system. ASD requires a comprehensive, coordinated, and individualized therapeutic and educational approach, with continuous assessment of treatment efficacy. The report underscores the urgent need for systemic changes in the care and education of children with developmental disorders to improve their overall quality of life.
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24. Tsui HKH, Chan SKW, Cheung ACK, Yeung TW, Hsiao JH. Differential mask effects on emotion recognition and eye movements in Psychotic-like experiences and autism: Insights from hidden Markov Modeling. J Psychiatr Res. 2025; 190: 347-56.
BACKGROUND: Facial mask wearing may disrupt facial emotion recognition (FER). The impact of masks on FER and associated eye movement patterns among individuals with autism spectrum disorder (ASD) and those with psychotic-like experiences (PLEs) remained unclear. METHODS: 180 ethnic Chinese individuals completed the FER task with eye-tracking, including two separate samples: 37 PLEs with 53 matched controls, and 45 ASD with 45 matched controls. The eye movement data were analyzed using Eye Movement analysis with Hidden Markov Models (EMHMM). MANCOVA was used to examine the mask and group effects on the performances and eye movements of FER, while regression analyses explored associations with subclinical measures. RESULTS: Facial masks impaired FER in all subjects. Differential effects of masks from matched controls on eye movement patterns and visual scanning consistency were only observed in the PLEs. The maladaptation of accuracy and visual scanning consistency due to masks were associated with subclinical psychotic symptoms and delusional ideations respectively. ASD presented poorer accuracy, slower reaction times, and less consistent eye movements compared to controls and PLEs. Imaginative cognition was related to the maladaptation of accuracy and eye movement due to masks in ASD. Schizotypal traits showed differential associations with eye movements in PLEs and ASD. CONCLUSIONS: This study reveals maladaptation of eye movement behaviors during FER due to masks in PLEs, and distinct associations between FER with subclinical features in PLEs and ASD. It sheds light on the complex social cognitive processing and real-world social challenges faced by these populations in mask-prevalent environments.
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25. Watanabe M, Takao C, Maeda C, Yonemitsu I, Kimura Y, Tominaga R, Nagamine T, Ono T, Toyofuku A. Case Report: Challenges of orthodontic treatment in patients with autism spectrum disorders diagnosed in adulthood. Front Psychiatry. 2025; 16: 1558789.
Patients with autism spectrum disorders (ASDs) occasionally have difficulties in dental settings owing to specific features, including hypersensitivity and restrictive persistence. When features of ASD remain unnoticed until adulthood, dental procedures would be provided without considering the patient’s potential ASD traits. Herein, we present three cases of ASD diagnosed in adulthood that experienced difficulties during orthodontic treatment, resulting in unsatisfactory outcomes, and discuss the importance of planning treatment and management that takes their ASD features into consideration. Case 1 involved a 23-year-old man who complained of unstable occlusion for three years since the initiation of orthodontic treatment and required orthodontic retreatment to return to his previous dentition. Previous orthodontic treatments had been discontinued on some occasions because of the hospitalized pharmacotherapy for exacerbated psychiatric conditions. Case 2 involved an 18-year-old woman who complained of unbearable changes in dentition in her upper incisors and changed facial appearance during orthodontic treatment, which caused her to drop out of school. Case 3 involved a 41-year-old woman who complained of a sliding jaw, especially when wearing a retainer, and changes in facial appearance for five years following the alignment of her dentition. All cases experienced discomfort and exacerbation of psychiatric conditions that were diagnosed as ASD during orthodontic treatment. Their complaints of persistent discomfort, including intolerance to the changed occlusion or facial appearance, would relate to their features of ASD, including hypersensitivities and restricted and repetitive behaviors. A vicious cycle between the exacerbation of their psychiatric conditions and uncomfortable sensations would impede the satisfactory goals of orthodontic treatment. Indications for orthodontic treatment should be carefully discussed, and treatment management that considers the characteristics of ASD, especially those that were diagnosed in adulthood, is crucial. This case series highlights the necessity of multidisciplinary follow-up throughout the long-term orthodontic treatment period in this patient population.