Pubmed du 29/05/25
1. Cui S, Wickramage L, Snodgrass L, Zehgeer AA. Clinical Insights Concerning Rickets in Association With Neurodevelopmental Disorders: A Systematic Review Focused on Autism. J Psychiatr Pract. 2025; 31(3): 145-55.
This systematic review examines the intersection of rickets and autism spectrum disorder (ASD), highlighting clinical insights from 10 studies involving 13 patients. Rickets, a pediatric bone disorder resulting from vitamin D, calcium, and/or phosphate deficiencies, often manifests through skeletal deformities, muscle weakness, and bone pain. ASD is a neurodevelopmental condition characterized by deficits in social communication and repetitive behaviors. The coexistence of these conditions, although uncommon, is notable due to overlapping factors such as selective eating habits and sensory sensitivities in children with ASD, which may exacerbate nutritional deficiencies. A comprehensive search across PubMed, Google Scholar, and Web of Science identified 65 relevant articles meeting the initial inclusion criteria, 10 of which (reporting on 13 patients) met the final review criteria for inclusion. All patients exhibited food selectivity, with most excluding dairy products and favoring potato-based foods. Musculoskeletal symptoms were predominant, with genu valgum, wrist widening, and metaphysis fraying being common findings. Seizures were the second most frequent reason for hospital admission, emphasizing the importance of monitoring neurological health in these patients. Calcium supplementation, primarily with calcium carbonate or calcium gluconate, was used in all cases, and the majority of patients experienced normalization of biochemical markers, including serum calcium levels. This review underscores the need for interdisciplinary care, focusing on nutritional and behavioral interventions to manage both rickets and ASD effectively. Future research should aim to explore larger and more diverse populations to better understand the clinical interplay between these conditions and inform more comprehensive treatment strategies.
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2. Di Maio A, Yahyavi I, Buzzelli V, Motta Z, Ascone F, Putignani L, Usiello A, Pollegioni L, Trezza V, Errico F. Prenatal Exposure to Lipopolysaccharide or Valproate Leads to Abnormal Accumulation of the NMDA Receptor Agonist D-Aspartate in the Adolescent Rat Brain. J Neurochem. 2025; 169(6): e70095.
Autism spectrum disorder (ASD) is a neurodevelopmental psychiatric condition linked to glutamatergic neurotransmission disruption. Although endogenous D-serine and D-aspartate modulate glutamatergic N-methyl D-aspartate receptor (NMDAR) activity, their involvement in ASD remains elusive. We measured the levels of D-aspartate, D-serine, and other key neuroactive amino acids, and their direct precursors in brain regions, plasma, and feces of environmental ASD rat models prenatally exposed to lipopolysaccharide or valproate, both during adolescence and early adulthood, as well as in a genetic ASD model, the Fmr1-(Δ)exon8 rat. No significant changes were found in plasma and feces. Conversely, we observed a prominent accumulation of D-aspartate in several brain regions of lipopolysaccharide- and valproate-exposed rats, selectively during adolescence, while D-serine level variations were more limited. No significant amino acid changes were observed in the Fmr1-(Δ)exon8 rat brain. We also assayed the activity of the main enzymes involved in cerebral D-serine and D-aspartate metabolism, suggesting that their regulation extends beyond their metabolic enzymes. These findings highlight that prenatal environmental stressors disrupt D-amino acid levels selectively in ASD rat brains, emphasizing the role of early NMDAR dysfunction in ASD-related phenotypes.
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3. Ding F, Pan J, Ji S, Zhang Y, Hou J, Shi N, Liu H. Case Report: De novo variant of the NUS1 gene associated with developmental delay and autism spectrum disorders in a Chinese family. Front Pediatr. 2025; 13: 1557103.
BACKGROUND: Nuclear undecaprenyl pyrophosphate synthase 1 (NUS1) has been implicated in the pathogenesis of neurodevelopmental disorders, including Parkinson’s disease, seizures, intellectual disability, dystonia, and congenital disorder of glycosylation. To this day, there have been limited studies and reports on the NUS1 gene. METHODS: We described the case of an 8-year-old Chinese boy exhibiting developmental delay, intellectual disability, and autism spectrum disorder (ASD). To elucidate the genetic etiology, whole-exome sequencing was performed on the proband. A candidate variant was subsequently validated by Sanger sequencing in the proband and his unaffected parents. RESULTS: Whole-exome sequencing analysis discovered a novel heterozygous variant (c.279del, p.L94Wfs*11) on exon 1 of NUS1 (NM_138459.5), leading to premature termination of protein translation (p.L94Wfs*11). Sanger sequencing failed to identify the candidate variant in his unaffected parents. Following the updated American College of Medical Genetics and Genomics guidelines, the c.279del variant was classified as pathogenic (PVS1+PM6+PM2_Supporting). Based on the clinical phenotype of the proband, he was diagnosed with autosomal dominant intellectual developmental disorder-55 with seizures (MRD55) and ASD. CONCLUSIONS: This study expands the phenotype and mutation spectrum of the NUS1 gene, which contributes to the diagnosis of related disorders. Furthermore, the identification of the genetic basis of the proband and confirmation of the corresponding loci of his family members will facilitate the genetic counseling of the proband’s parents regarding reproduction.
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4. Du Y, Yang X, Wang M, Lv Q, Zhou H, Sang G. Longitudinal changes in children with autism spectrum disorder receiving applied behavior analysis or early start denver model interventions over six months. Front Pediatr. 2025; 13: 1546001.
BACKGROUND: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterized by social communication difficulties, restricted interests, repetitive behaviors, and sensory abnormalities. The rising prevalence of ASD presents a significant public health concern, with no pharmacological treatments available for its core symptoms. Therefore, early and effective behavioral interventions are crucial to improving developmental outcomes for children with ASD. Current interventions primarily focus on educational rehabilitation methods, including Applied behavior Analysis (ABA) and the Early Start Denver Model (ESDM). OBJECTIVE: This study aims to examine the developmental changes in children with ASD following six months of ABA therapy or ESDM intervention. METHODS: From December 2021 to December 2023, 30 children receiving ABA therapy at the Zhejiang Rehabilitation Medical Center (40 min/session, 4 sessions/day, 5 days/week), while another 30 children undergoing ESDM training at Hangzhou Children’s Hospital (2 h of one-on-one sessions and 0.5 h of group sessions/day, 5 days/week). Both groups participated in their respective interventions for six months. Pre- and post-treatment assessments were conducted using the Psycho-educational Profile-Third Edition (PEP-3). RESULTS: Both groups showed significant improvements in PEP-3 scores post-treatment, including cognitive verbal/pre-verbal, expressive language, receptive language, social reciprocity, small muscles, imitation, emotional expression, and verbal and nonverbal behavioral characteristics. CONCLUSION: Both ABA and ESDM interventions were associated with comprehensive improvements in children with ASD over a six-month period.
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5. Ellis R, Williams G, Caemawr S, Craine M, Holloway W, Williams K, Shaw SCK, Grant A. Menstruation and Autism: a qualitative systematic review. Autism Adulthood. 2025.
BACKGROUND: Menstruation is a biological process which can be irregular, painful, and co-occur with fatigue, social withdrawal, and increased emotions. There is some evidence to suggest Autistic people experience menstruation differently to non-Autistic people. METHODS: This systematic review (PROSPERO registration: CRD42023399674) searched four databases in February 2023. We used thematic synthesis to analyse qualitative studies of experiences related to menstruation for Autistic people and people providing support to Autistic people. We also appraised the quality of studies with CASP. RESULTS: Our thematic synthesis of twelve (eight peer-reviewed; four grey literature) sources identified differing priorities between parents, professionals, and Autistic people. Autistic people reported physical, emotional and social impacts of menstruation. Furthermore, there were reports of increased Autism-specific experiences during menstruation such as increased sensory sensitivities, burnout and anxiety, which were often unseen by those who supported them. Autistic people’s menstruation priorities were obtaining knowledge and skills ahead of their first period. However, parents and professionals focused on external behaviours including hygiene and obtaining independence in managing periods. Sources poorly described participant demographics and had a limited focus on Autistic perspectives. CONCLUSIONS: We conclude there needs to be tailored support to meet the needs of both Autistic individuals and those who support them. This should be informed by research which centers Autistic people.
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6. Faustmann LL, Altgassen M. Prospective Memory Performance of Autistic Adults in Everyday Life: The Role of Stress and Motivation. Autism Res. 2025.
Prospective memory (PM) is the ability to remember to carry out intended actions in the future. The present study investigated the PM performance of autistic adults in everyday life. A total of 29 autistic participants and 30 controls matched for age, gender, and cognitive abilities completed various PM tasks (time-based vs. event-based; externally-assigned vs. self-assigned), integrated into a three-day Experience Sampling Method (ESM) assessment. The ESM survey assessed other activities performed during the 3 days, participants’ motivation, daily routine, and perceived daily-life stress. No group differences were found between autistic and control participants in any of the various PM tasks. Autistic participants did not differ from control participants in the types of everyday activities performed or in motivation, but showed higher levels of perceived stress. This is the first study to investigate PM performance of autistic individuals in everyday life. The results suggest that autistic adults show no PM difficulties in naturalistic PM tasks.
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7. Garriga-Cazorla H, Roman-Juan J, Martí L, Solé E, Martínez-Leal R, Miró J. Chronic pain in Autism: A Systematic Review. Clin J Pain. 2025.
OBJECTIVES: The aim of this systematic review was to synthesize the state-of-the-art in research on chronic pain in autistic individuals, including epidemiology, assessment, and management. METHODS: We conducted a search of the following electronic databases: PubMed/MedLine, CINHAL, PsychINFO, PubPsych, Scopus and Web of Science, from inception to 31 July 2024. RESULTS: A total of 5,603 citations were identified, 87 articles were deemed eligible for further assessment, and 26 articles were included in the final review. Of these, 13 provided data about the epidemiology of chronic pain, 10 were related to pain assessment, and three focused on chronic pain treatment. The most commonly studied locations of chronic pain were the abdomen and the head. The assessment tools used were frequently completed by parents or professionals/researchers and only one study used self-reported measures. Only three studies were on the management of chronic pain in autistic individuals, in particular psychological interventions. DISCUSSION: This study provides initial insights into chronic pain in autistic individuals, and shows that they experience conditions such as chronic abdominal pain and migraines as the general population does. It also highlights challenges to the accurate assessment and treatment of chronic pain, and emphasizes the need for heightened clinician awareness, early identification, and personalized management strategies.
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8. Glad DM, Vogt EM, Jones KL, Miller LE. Reconsidering Social-Behavioral Phenotypes in Wolf-Hirschhorn Syndrome: Presentation of Two Cases Diagnosed with Autism Spectrum Disorder. Arch Clin Neuropsychol. 2025.
OBJECTIVE: Comorbidity of autism spectrum disorder (ASD) and Wolf-Hirschhorn syndrome (WHS) is not well understood. Prior research regarding social functioning in WHS is inconsistent and largely focuses on reporting general social difficulties or positive screening results rather than confirmed ASD diagnoses. This case series aims to promote reconsideration of ASD diagnoses in children with WHS and is the only report of ASD symptoms and confirmed diagnoses in WHS based on a comprehensive diagnostic assessment. Two children with WHS completed comprehensive clinical neuropsychological evaluations. METHOD: Neurodevelopmental skills (Mullen Scales of Early Learning), adaptive behavior (Adaptive Behavior Assessment System-3rd Edition; Behavior Assessment System for Children-3rd Edition (BASC-3)), emotional and behavioral functioning (BASC-3), and ASD symptomatology (Childhood Autism Rating Scale-2nd Edition; TELE-ASD-PEDS) were assessed. RESULTS: Both children demonstrated multiple body system involvement consistent with typical medical complexities of WHS. Neuropsychological profiles of each patient revealed unique strengths and weaknesses, though each were consistent with diagnoses of intellectual developmental disorder and ASD. CONCLUSIONS: This case series demonstrates the need to comprehensively assess rather than merely screen ASD symptomatology in children with WHS, taking into account their degree of cognitive impairment. Increased awareness of this co-occurring diagnosis can help promote early identification by diagnosticians and monitoring by other medical providers caring for children with WHS, thereby enabling families to connect to appropriate intervention services.
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9. Huang D, Kim HJ, Wang Z, Dekhne M, Uzzo R, Durbas A, Dykhouse G, Subramanian T, Pezzi A, Colon LF, Owusu-Sarpong S, Lovecchio F. Identifying Distinct Risk Factors for Early-Onset and Late-Onset PJK in ASD: A Comparative Analysis Across Non-PJK, Early-Onset PJK, and Late-Onset PJK Groups. Global Spine J. 2025: 21925682251345755.
Study DesignRetrospective cohort study.ObjectivesThe risk factors for proximal junctional kyphosis (PJK) in adult spinal deformity (ASD) are well established, but their association with onset timing remains unclear. This study aims to identify distinct risk factors for early-onset and late-onset PJK.MethodsThis study included 96 ASD patients who underwent corrective surgery (fusion ≥5 levels, UIV: T1-L1, LIV: L5/S1) with ≥2 years of follow-up. Patients were categorized into Non-PJK, Early-Onset PJK (≤6 months), and Late-Onset PJK (>6 months) groups. Clinical characteristics were compared to identify potential risk factors (P < .10). Multinomial logistic regression was used to evaluate the independent effects of these variables on early-onset and late-onset PJK.ResultsAmong 96 patients, 44 (45.8%) developed PJK (31 early-onset, 13 late-onset), and 7 (7.3%) developed PJF, including 6 cases in the Early-Onset group (19.4%, P = .005). After initial screening and addressing multicollinearity, preoperative PI, UIV location, and postoperative PI-LL and L1PA were finally included in regression analysis. Lower thoracic UIV (T7-L1) increased the risk of Early-Onset PJK (OR = 5.27, P = .015). Higher preoperative PI was associated with Late-Onset PJK, with a 9% increased risk per degree (OR = 1.09, P = .027).ConclusionsMost PJK cases occur within 6 months and have a higher risk of PJF. Lower thoracic UIV increases Early-Onset PJK risk, while higher preoperative PI predisposes to Late-Onset PJK. Strategies should focus on preventing Early-Onset PJK in lower thoracic UIV cases and long-term monitoring for Late-Onset PJK in high-PI patients.
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10. Katz H. Teaching Physical Education to Children With Autism: Stories From the Field. Adapt Phys Activ Q. 2025: 1-2.
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11. Kemecsei RG, Dániel-Papp S, Balazs DB, Ghebrihiwet Tewelde E, Csillag A, Zachar G. Disrupted functional connectome in a rodent model of autism during social isolation. Front Neural Circuits. 2025; 19: 1525130.
Autism spectrum disorder (ASD) is associated with disruptions in social behavior and the neural circuitry behind it. Very little data is available on the mechanisms that are responsible for the lack of motivation to reunite with conspecifics during isolation. It is as important to investigate the neural changes that reduce motivation to end social isolation, as those underlying the reactions to social stimuli. Using a rodent model of prenatal valproic acid (VPA) exposure, we investigated how social isolation affects the neural activation of key brain nuclei involved in social processing and stress regulation. Juvenile male C57BL/6 mice were treated prenatally with VPA or saline (CTR) and subjected to 24 h of social isolation from their cage mates, with neural activity assessed via c-Fos immunohistochemistry. Based on correlational activations we reconstructed and analyzed the functional connectome of the observed brain regions. Control animals exhibited elevated c-Fos expression in the regions central to the mesolimbic reward system (MRS), social brain network (SBN), and stress-related networks, with the interpeduncular nucleus (IPN) at the core, compared to VPA-treated animals. Functional network analysis revealed a more widespread but less specific pattern of connectivity in VPA-treated animals. These findings suggest that prenatal VPA exposure disrupts certain neural circuits related to social behavior and stress regulation, offering an insight into the altered perception of social isolation in ASD models, and highlighting potential therapeutic targets.
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12. Knapik-Szweda S, Thompson G. Long-term Music Therapy With Young Autistic Children: Mothers’ Perspectives. J Music Ther. 2025; 62(1).
The perspective of parents and their expectations of music therapy have been previously reported in the literature. However, research into parent perceptions of long-term family-centered music therapy is lacking. This qualitative study delves into the experiences of mothers with autistic children who engaged in a minimum three-year-long, family-centered music therapy program. Through semi-structured interviews with seven mothers, employing Reflexive Thematic Analysis, this study aims to comprehend the nuanced ways these parents experienced long-term music therapy for their child and family. Two main themes emerged from the analysis, each with related subthemes. Theme 1-Long-term music therapy fosters subjective well-being in the child and family, includes three subthemes: (a) sharing joy through musical interactions supports well-being; (b) an opportunity for the child to be themselves; and (c) music as a support for daily life. Theme 2-Parent perceived changes to their child’s development, includes six subthemes: (a) focusing on the whole child; (b) supporting cognitive development; (c) supporting social skills; (d) supporting emotional skills; (e) supporting body awareness; and (f) developing child strengths and resources. These mothers shared that long-term music therapy sessions with their child supported them to experience a sense of relief and catharsis, which they considered helped them to cope with the challenges they faced when adapting to the different developmental path of their children. Additionally, the analysis of the parent interviews reveals their perceptions that long-term music therapy can bolster family well-being by facilitating emotional expression and capitalizing on the child’s strengths. This qualitative study therefore highlights the potential multifaceted benefits of long-term music therapy, providing valuable insights into its possible role in enhancing the lives of autistic children and their families.
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13. Krishnappa Babu PR, Di Martino JM, Aiello R, Eichner B, Espinosa S, Green J, Howard J, Perochon S, Spanos M, Vermeer S, Dawson G, Sapiro G. Validation of a Mobile App for Remote Autism Screening in Toddlers. Nejm ai. 2024; 1(10).
Early detection of autism is important for timely access to diagnostic evaluation and early intervention services, which improve children’s outcomes. Despite the ability of clinicians to reliably diagnose autism in toddlers, diagnosis is often delayed. SenseToKnow is a mobile autism screening application (app) delivered on a smartphone or tablet that provides an objective and quantitative assessment of early behavioral signs of autism based on computer vision (CV) and machine learning (ML). This study examined the accuracy of SenseToKnow for autism detection when the app was downloaded and administered remotely at home by caregivers using their own devices. The SenseToKnow app was administered by caregivers of 620 toddlers between 16 and 40 months of age, 188 of whom were subsequently diagnosed with autism by expert clinicians. The app displayed strategically designed movies and a bubble-popping game on an iPhone or iPad while recording the child’s behavioral responses through the device’s front-facing camera and touch/inertial sensors. Recordings of the child’s behavior were then automatically analyzed using CV. Multiple behavioral phenotypes were quantified and combined using ML in an algorithm for autism prediction. SenseToKnow demonstrated a high level of diagnostic accuracy with area under the receiver operating characteristic curve of 0.92, sensitivity of 83.0%, specificity of 93.3%, positive predictive value of 84.3%, and negative predictive value of 92.6%. Accuracy of the app for detecting autism was similar when administered on either a caregiver’s iPhone or iPad. These results demonstrate that a mobile autism screening app based on CV can be delivered remotely by caregivers at home on their own devices and can provide a high level of accuracy for autism detection. Remote screening for autism potentially lowers barriers to autism screening, which could reduce disparities in early access to services and support and improve children’s outcomes.
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14. Lang HM. History of the Autism Diagnosis- How the Perspectives Have Changed. Health Care Anal. 2025.
The diagnosis and perception of autism have undergone significant transformations throughout history. Initially conceptualised as a symptom of schizophrenia, autism later emerged as a distinct diagnosis, evolving into the broader classification of autism spectrum disorder (ASD). This essay explores the main shifts in the understanding of autism throughout its history and different approaches to its treatment. While the traditional psychiatric perspective aligns with a naturalist view of disease, the Neurodiversity Movement advocates for a normative approach, emphasising societal adaptation over medical intervention. The study examines historical milestones, including the contributions of Eugen Bleuler, Grunya Sukhareva, Leo Kanner, and Hans Asperger, alongside the conceptual transition from low- and high-functioning autism to the spectrum model. It also discusses the implications of language in shaping autism discourse, highlighting the shift from person-first to identity-first terminology. The essay ultimately argues that the expansion of the autism diagnosis supports the neurodiversity paradigm, which fosters greater inclusion and empowerment of neurodivergent individuals. However, considerations of severity and linguistic framing remain crucial in advancing this perspective.
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15. Li S, Zhang Y, Wang L, Li J. Beat Gestures Improve Language Comprehension in Chinese Children with Autism Spectrum Disorders. J Autism Dev Disord. 2025.
The present study investigated the role of beat gestures in language comprehension among children with autism spectrum disorders. Twenty-six children with autism and 26 age-matched typically developing children participated in a language comprehension task. The task involved watching video recordings of dialogues presented in three conditions: speech-only, speech with beat gestures, and speech with meaningless gestures. The study recorded the accuracy and reaction time of children’s responses, as well as their eye movement patterns, during the task. While there were no significant differences in the accuracy and reaction time across the three conditions for the typically developing children, the autistic children showed significantly improved performance in the beat gesture condition compared to the other two conditions. Additionally, eye-movement data revealed that typically developing children displayed an attentional bias towards the face in all conditions. However, autistic children demonstrated a greater bias in gaze towards the hand location in the gesture condition. The results suggest that beat gestures enhance language comprehension in autistic children by emphasizing prosodic and discourse-pragmatic cues. These findings offer valuable insights for language rehabilitation training practices for Chinese children with autism.
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16. Liu C. Targeted drug screening for autism based on Cav1.2 calcium ion channel. PLoS One. 2025; 20(5): e0324018.
This study presents a targeted virtual drug screening approach for autism spectrum disorder (ASD), focusing on Cav1.2 calcium ion channels as potential therapeutic targets. ASD is a complex neurodevelopmental disorder characterized by impairments in social communication and behavior, with genetic factors playing a significant role. Cav1.2 channels have been implicated in the pathophysiology of ASD due to their role in regulating neuronal excitability and synaptic transmission. We employed computational methods to virtually screen a large database of compounds for their potential to modulate Cav1.2 channel function. Molecular docking simulations were used to identify potential Cav1.2 inhibitors, followed by pharmacokinetic modeling to assess drug-like properties. Molecular dynamics (MD) simulations were performed to evaluate the interactions of the top candidates with Cav1.2, and Molecular Mechanics/Poisson-Boltzmann Surface Area (MM/PBSA) analysis was employed to predict binding free energies. This approach identified several promising drug candidates, including ZINC000828320609, which exhibited strong binding affinity to Cav1.2, favorable pharmacokinetic properties, and no predicted toxicity. The virtual screening results provide a solid foundation for further experimental validation and potential drug development for ASD, offering a novel and efficient strategy to target Cav1.2 channels in the treatment of this complex disorder.
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17. Malow BA, Muscatello RA, McGonigle T, Vandekar S, Corbett BA. Trajectory of sleep patterns across adolescence in autistic and neurotypical youth. Sleep Med. 2025; 133: 106604.
STUDY OBJECTIVES: Changes in sleep-wake patterns are synonymous with the developmental transition to adolescence. To examine the trajectory of sleep-wake patterns in adolescents with autism spectrum disorder (ASD) compared to typically developing (TD) adolescents. METHODS: The total sample consisted of 244 participants, 140 with ASD and 104 who were TD. Sleep data were collected annually in a 4-year longitudinal study on pubertal development, at four time points (10-13 years, 11-14 years, 12-15 years, and 13-16 years). Changes in self-reported weekday and weekend bedtime and waketime across pubertal status were compared between TD and ASD participants, using mixed effects models adjusted for sex, reported night wakings, melatonin use and a diagnosis by puberty interaction. A repeated measures adjusted proportional odds model was used to model reported daytime sleepiness using the same independent variables. RESULTS: The ASD and TD groups differed in the change in bedtime across pubertal stages (diagnosis by puberty interaction, X(2) = 24.27, df = 3, p < 0.001). At time 1 (ages 10-13 years), bedtime was comparable in the autism and TD groups for both weekdays and weekends. As Tanner stage progressed, the TD group had later bedtimes compared to those with ASD. Moreover, there was a significant diagnosis by puberty interaction in daytime sleepiness (X(2) = 20.71, df = 3, p = 0.001) characterized by TD youth endorsing greater daytime sleepiness at later pubertal stages than ASD youth. CONCLUSIONS: Autistic and TD adolescents exhibit differences in bedtime and daytime sleepiness with pubertal development. These differences may be related to hormonal differences or behavioral factors in these populations and warrant further study.
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18. Marzi A, Caniato M, Gasparella A. The influence of indoor temperature and noise on autistic individuals. Sci Rep. 2025; 15(1): 18802.
This study examines the influence of temperature and noise on autistic individuals. Conventional indoor comfort questionnaires as well as pre-validated attentional tests were administered to autistic and typically developed individuals across six different environmental scenarios. Results showed that autistic individuals struggled with completing conventional questionnaires independently providing inconsistent responses. Attentional tests were always successfully autonomously completed, revealing significant performance declines for autistic individuals because of temperature variation (4 °C) or sudden noises. Background noise (55 dB(A)) also caused performance decreases, whether typically developed individuals were unaffected by all conditions. These findings suggest that (i) conventional indoor comfort questionnaires are unsuitable for autistic individuals, (ii) indoor environmental conditions (temperature and noise) do stress autistic people (iv) stressors thresholds are provided and (iv) attentional tests could be successfully used to investigate autistic individuals’ indoor conditions and assess their perceived stress in relation to variations of temperature and acoustic circumstances.
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19. Metwally AM, Salah El-Din EM, Sami SM, Abdelraouf ER, Sallam SF, Elsaeid A, El-Saied MM, Ashaat EA, Fathy AM, El-Hariri HM, Elshaarawy GA, Nassar MS, Shehata MA, El-Alameey IR, Bassiouni RI, Abdou MH, Helmy MA, Elghareeb NA, AbdAllah M, Rabah TM, Salama SI, Saleh RM, El Etreby LA, Elmosalami DM, Eltahlawy E, Zeid DA. Mapping autism in Egypt: population-based insights into prevalence, risk determinants, and severity among children aged 1-12 years. Mol Autism. 2025; 16(1): 32.
BACKGROUND: The prevalence of autism spectrum disorder (ASD), a common developmental disorder, has surged in recent years. Accordingly, the identification and early management of possible risk factors can diminish ASD incidence. AIM: To determine the prevalence and severity of idiopathic ASD in Egyptian children aged 12 months to 12 years, and to identify the epidemiological, sociodemographic, and environmental risk factors contributing to this disorder. METHODS: This study comprised 41,640 children from the main eight geographic areas in Egypt. It was conducted through four phases: household screening, facility-based screening for high-risk children, diagnosis confirmation, and risk factor assessment. RESULTS: The prevalence of ASD as confirmed by the criteria of the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) and the Childhood Autism Rating Scale (CARS) was 1.1% (455 out of 41,640), with significant geographic variability. Urban areas had a significantly higher prevalence than rural areas. Children aged 3-6 years showed the highest prevalence at 1.5%. Boys were four times more affected than girls, with prevalence rates of 1.7% and 0.4%, respectively. Significant risk factors included: a history of convulsions (AOR = 4.7; 95% CI: 3.3-6.79), low birth weight (AOR = 2.08; 95% CI: 1.54-2.79), prolonged stays in neonatal intensive care unit (NICU) longer than two days (AOR = 1.91; 95% CI: 1.46-2.49) and maternal health problems during pregnancy (AOR = 1.66; 95% CI:1.36-1.95). Regarding severity, 45% of diagnosed children had moderate ASD, 39% had severe ASD, and 16% had mild ASD. Female gender and older age were significant predictors of greater ASD severity. CONCLUSION: ASD prevalence in Egypt is comparable to other Middle Eastern countries. Policymakers should utilize these findings to design targeted public health interventions aimed at early detection, management, and prevention of ASD progression.
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20. Morris AM, Lynch S, Kasdin RG, Hill I, Shah S, Shanker P, Becker TD, Staudenmaier P, Leong AW, Martin D, Rice T. Inpatient Child and Adolescent Psychiatry Youth with Autism and/or Intellectual Disabilities: Clinical Characteristics and Considerations. J Autism Dev Disord. 2025.
Children and adolescents with autism spectrum disorder and/or an intellectual disability (ASD/ID) are psychiatrically hospitalized at disproportionately higher rates than youth without ASD/ID. Despite this, few studies have compared the clinical courses of youth with and without ASD/ID in inpatient (IP) child and adolescent psychiatry (CAP) settings. This study used a cross-sectional design of all youth (M = 14.0 years, SD = 2.6 years) admitted to an urban IP unit between 2018 and 2021 to examine differences between ASD/ID and non-ASD/ID youth across dimensions of sociodemographic and psychiatric history and clinical course. 1101 Patients were included in the study and 170 (15.4%) had a history of ASD/ID. ASD/ID youth were more likely to be younger, be male, have histories of violence, and on average have more prior hospitalizations and existing psychotropic prescriptions than their non-ASD/ID counterparts. ASD/ID youth were less likely than their non-ASD/ID peers to be admitted for suicidality and more likely to be admitted for aggression; they had longer average lengths of stay, received more IP emergency medications for agitation, and experienced greater polypharmacy at discharge. The IP psychiatric clinical course of ASD/ID youth differs from that of non-ASD/ID youth, suggesting that ASD/ID youth often present to IP settings with externalizing symptoms. Findings highlight the importance of clinical strategies tailored to the unique needs of ASD/ID youth to improve their care in general IP CAP settings.
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21. Onur EE, Muslu GK. Use of Traditional and Complementary Medicine (T&CM) Treatments by Mothers of Children with Autistic Spectrum Conditions. Compr Child Adolesc Nurs. 2025: 1-17.
The use of traditional and complementary medicine is increasing in the population with developmental disabilities, including children diagnosed with autistic spectrum conditions (ASC). Despite the growing use of T&CM, limited research exists on its use in ASC populations. This study aims to explore the attitudes and behaviors of mothers with children diagnosed with ASC regarding of traditional and complementary medicine (T&CM) use and identify the factors influencing their decisions. This descriptive study was conducted with a total of 149 mothers of children diagnosed with ASC under the age of 18 who were receiving education in seven special education and rehabilitation centers. Data were collected using the Socio-Demographic Characteristics Questionnaire, the Diagnostic Form for the Use of Traditional and Complementary Treatment Practices, and the Attitude toward the Holistic Complementary and Alternative Medicine Questionnaire. Descriptive and inferential statistics were used to analyze the data. The findings revealed that 27.5% of mothers used T&CM for their children, with vitamins and minerals being the most commonly used forms (65.9%). Higher maternal education and paternal self-employment were significantly associated with T&CM use (p < .05). The study suggests that healthcare professionals should be aware of the widespread use of T&CM and provide parents with accurate information regarding these practices. These findings underscore the importance of healthcare professionals being informed about the prevalence of T&CM use in children with ASC and proactively guiding families with evidence-based information. Further research is warranted to assess the safety and effectiveness of these practices in this vulnerable population.
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22. Park S, Rumrill S, Zhou K, Rumrill P. A « win-win » approach to workplace accommodations for autistic workers. Work. 2025: 10519815251344883.
BACKGROUND: The incidence and prevalence of autism have been increasing dramatically over the past several decades. Autistic individuals report significant difficulties initiating and maintaining their careers. OBJECTIVE: This article reviews the employment concerns of autistic workers and suggests a collaborative strategy for implementing on-the-job accommodations with employer cooperation. METHODS: This narrative literature review draws upon existing research by the authors and other investigators. RESULTS: The win-win approach to workplace accommodations has the potential to improve job acquisition and retention outcomes for autistic workers. CONCLUSIONS: Vocational rehabilitation professionals must prepare autistic clients to request and implement needed on-the-job supports, utilizing existing resources like the Job Accommodation Network at West Virginia University.
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23. Seese ST, Cohenour T, Seese SK, Gulsrud A, Kasari C. Experience matters: Caregiver interactions with later-born toddlers with autism. Infant Behav Dev. 2025; 80: 102071.
Caregiver-child interactions are critical for supporting early social communication in toddlers showing signs of autism. This study examined whether prior experience parenting an autistic toddler influences how caregivers interact with younger siblings. During a free play interaction, caregivers were rated on the developmental appropriateness and quality of strategies such as: caregiver support for toddler’s dyadic social engagement (e.g., engagement/regulation and use of environmental strategies), imitation and modeling (e.g., turn-taking), and play support (e.g., modulating play to toddler’s level). Additionally, we coded caregiver responsiveness to the toddler’s nonverbal and verbal communication. Specifically, we explored whether caregiver strategy use and responsiveness to toddler communication differed between caregivers who already had an older child with autism and those who did not. Participants were 115 caregiver-toddler dyads (M age = 20 months) showing features of autism, grouped by sibling status: older autistic sibling (EL-Sibs, n = 23), a non-autistic sibling (LL-Sibs, n = 34), or were first-borns (FB, n = 58). Binary logistic regressions examined strategy use and responsiveness, controlling for toddler age, developmental level, toddler ADOS scores, and family annual household income. Sibling status significantly predicted play-related strategies but not dyadic social engagement or imitation/modeling strategies. Caregiver responsiveness was not associated with sibling status; however, child age, developmental level, and higher family income were associated with higher quality responsiveness. Findings suggest that prior autism-related parenting experience may positively shape certain caregiving behaviors with later-born siblings, specifically within play-based interactions.
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24. Toscano F, Zirilli G, Randazzese SF, Carlino M, Gallizzi R, Wasniewska M, Valenzise M. Scurvy, all the faces you can see: our experience and review of the literature. Ital J Pediatr. 2025; 51(1): 159.
BACKGROUND: In the recent past an incremental incidence of scurvy has been reported in the pediatric population, especially in children with neuropsychiatric disorders and a selective diet. Musculoskeletal manifestations, such as limp and refusal to walk, usually represent the main causes of access in the emergency room. Nowadays, new patterns of manifestations have been demonstrated, such as hematological and cardiological changes including pulmonary hypertension, rarely resulting in potential lethal complications. CASE PRESENTATION: We describe five pediatric patients affected by developmental delay or autism, with a restrictive diet, diagnosed with scurvy during the hospitalization: 3 pre-school aged boys presenting with typical clinical presentation, due to severe malnutrition; a 6-year-old girl with refusal to walk and a very high titre of inflammatory markers, without typical signs of scurvy; a 4-year-old boy with severe pulmonary hypertension, rarely related to vitamin C deficiency. In all the cases, a prompt resolution of the symptoms after the administration of vitamin C has been observed, confirming the diagnosis. CONCLUSION: At present, scurvy is a more contemporary condition than previously thought. It is fundamental to recognize both typical and atypical manifestations to avoid delay of diagnosis or rarely life-threatening complications.
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25. Tseng A, Francis SM, Rawls E, Conelea C, Grissom NM, Kummerfeld E, Ma S, Jacob S. Integrating causal discovery and clinically-relevant insights to explore directional relationships between autistic features, sex at birth, and cognitive abilities – ERRATUM. Psychol Med. 2025; 55: e161.
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26. Ueno F, Takahashi I, Ohseto H, Onuma T, Narita A, Obara T, Ishikuro M, Murakami K, Noda A, Matsuzaki F, Metoki H, Tamiya G, Kure S, Kuriyama S. Deep-embedded clustering by relevant scales and genome-wide association study in autism. PLoS One. 2025; 20(5): e0322698.
Autism spectrum disorder (ASD) presents with heterogeneous phenotypic and genetic characteristics. Despite investigation into the molecular mechanisms underlying ASD, its etiology remains elusive. In our previous investigation within the Simons Simplex Collection (SSC), we noted increased signals through a genome-wide association study (GWAS) by clustering patients with ASD and reducing the sample size. This study seeks to validate our previous study in a different population, the Simons Foundation Powering Autism Research for Knowledge (SPARK) population, while probing further into the genetic architecture of ASD. We examined data from 2,079 white male subjects and 875 unaffected SPARK siblings. Our methodology encompassed cluster analyses, followed by traditional GWAS and cluster-based GWAS (cGWAS). No significant associations were observed in the conventional GWAS when comparing all patients with all controls. However, in the cGWAS, by comparing patients clustered by phenotypes with controls, we identified 27 chromosomal loci meeting the criteria of p < 5.0 × 10 ⁻ 8. Remarkably, several of these loci were situated within or in proximity to genes previously implicated as candidates for ASD. Nonetheless, our previous study of the SSC population did not fully replicate the SPARK population. The absence of reproducibility suggests the possibility of false positives within the cGWAS results due to potential technical factors. However, the emergence of multiple signals post-clustering and the association of numerous identified gene regions with ASD and related disorders provide supporting evidence for the validity of cGWAS outcomes.