Pubmed du 24/02/25
1. Ahmed AFM, Thobias RB, Thirumavalavan N, Thangamani S, Nair LDV. Obesity with developmental delay in infancy: a rare cause not to miss-pseudohypoparathyroidism. BMJ Case Rep;2025 (Feb 24);18(2)
Mild developmental delay in infants with obesity is often disregarded, attributing it to increased weight by parents and practitioners. We report an infant with obesity and gross motor delay after the first 6 months of age, seizures and obstructive sleep apnoea. The child was diagnosed with pseudohypoparathyroidism (PHP) and was medically managed with parenteral calcium, vitamin D and magnesium. Appropriate early interventions by developmental therapists addressing the developmental domains coordinated by developmental paediatricians and relevant drug and diet management corrected the delay. The child is followed up for soft tissue calcifications, kidney functions and skeletal health. This case highlights the importance of early recognition and comprehensive management of correctable conditions like PHP by developmental specialists rather than addressing only the developmental aspect of it.
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2. Ährlund-Richter S, Harpe J, Fernandes G, Lam R, Sur M. Persistent Disruptions in Prefrontal Connectivity Despite Behavioral Rescue by Environmental Enrichment in a Mouse Model of Rett Syndrome. bioRxiv;2025 (Feb 11)
Rett Syndrome, a neurodevelopmental disorder caused by loss-of-function mutations in the MECP2 gene, is characterized by severe motor, cognitive and emotional impairments. Some of the deficits may result from changes in cortical connections, especially downstream projections of the prefrontal cortex, which may also be targets of restoration following rearing conditions such as environmental enrichment that alleviate specific symptoms. Here, using a heterozygous Mecp2 (+/-) female mouse model closely analogous to human Rett Syndrome, we investigated the impact of early environmental enrichment on behavioral deficits and prefrontal cortex connectivity. Behavioral analyses revealed that enriched housing rescued fine motor deficits and reduced anxiety, with enrichment-housed Mecp2 (+/-) mice performing comparably to wild-type (WT) controls in rotarod and open field assays. Anatomical mapping of top-down anterior cingulate cortex (ACA) projections demonstrated altered prefrontal cortex connectivity in Mecp2 (+/-) mice, with increased axonal density in the somatosensory cortex and decreased density in the motor cortex compared to WT controls. ACA axons revealed shifts in hemispheric distribution, particularly in the medial network regions, with Mecp2 (+/-) mice exhibiting reduced ipsilateral dominance. These changes were unaffected by enriched housing, suggesting that structural abnormalities in prefrontal cortex connectivity persist despite behavioral improvements. Enriched housing rescued brain-derived neurotrophic factor (BDNF) levels in the hippocampus but failed to restore BDNF levels in the prefrontal cortex, consistent with the persistent deficits observed in prefrontal axonal projections. These findings highlight the focal nature of changes induced by reduction of MeCP2 and by exposure to environmental enrichment, and suggest that environmental enrichment starting in adolescence can alleviate behavioral deficits without reversing abnormalities in large-scale cortical connectivity.
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3. Al Imran M, Islam MS, Hossain MS, Pardhan S, Bari N, Zeba Z. Knowledge and practice among caregivers having children with autism in Bangladesh: findings from a cross-sectional study. BMC Res Notes;2025 (Feb 24);18(1):82.
BACKGROUND: Autism spectrum disorder (ASD) is a term used to describe a group of conditions characterized by difficulties with social skills, speech, repetitive behaviors, and nonverbal communication. There is no cure for autism, however, early diagnosis and intervention can increase the chance of treatment success. If parents or caregivers do not have sound knowledge about autism, problems can become more complicated. The study aimed to assess the knowledge and practice among caregivers having children with ASD in Bangladesh. METHODS: A cross-sectional survey was conducted among 68 caregivers of children with ASD in the selected area of Mymensingh city, Bangladesh. The data were collected from May to June 2021 through face-to-face interviews by a semi-structured questionnaire including informed consent, socio-demographics, as well as questions regarding knowledge (12-item) and practice (6-item) towards children with ASD using a purposive sampling technique. The data were analyzed using the SPSS software (version 25.0). RESULTS: The mean score of knowledge among caregivers having children with ASD was 7.16 (SD = 2.09) out of 12 (59.67%). The mean score of practice among caregivers having children with ASD was 3.16 (SD = 1.10) out of 6 (52.67%). There were no significant mean differences in the mean knowledge and practice scores among participants’ different socio-demographic categories. 95.6% of caregivers have not received any formal training to care for children with ASD, and more than half (57.4%) believed that mixing with good friends would make the necessary change in children with ASD. 97.1% of the children with ASD did not have any health insurance with 72.1% receiving government allowance for ASD. CONCLUSIONS: The findings indicated inadequate knowledge and practice among caregivers of children with ASD. The study suggests an immediate health education program is needed, as well as appropriate practice for children with ASD in Bangladesh.
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4. Bridi MCD, Luo N, Kim G, Menarchek BJ, Lee RA, Rodriguez B, Severin D, Moreno C, Contreras A, Wesselborg C, O’Ferrall C, Patel R, Bertrand S, Kannan S, Kirkwood A. Erratum: Daily oscillation of the excitation/inhibition ratio is disrupted in two mouse models of autism. iScience;2025 (Feb 21);28(2):111917.
[This corrects the article DOI: 10.1016/j.isci.2024.111494.].
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5. Choo BKM, Barnes S, Sive H. A Hypothesis: Metabolic Contributions to 16p11.2 Deletion Syndrome. Bioessays;2025 (Mar);47(3):e202400177.
16p11.2 deletion syndrome is a severe genetic disorder associated with the deletion of 27 genes from a Copy Number Variant region on human chromosome 16. Symptoms associated include cognitive impairment, language and motor delay, epilepsy or seizures, psychiatric disorders, autism spectrum disorder (ASD), changes in head size and body weight, and dysmorphic features, with a crucial need to define genes and mechanisms responsible for symptomatology. In this review, we analyze the clinical associations and biological pathways of 16p11.2 locus genes and identify that a majority of 16p11.2 genes relate to metabolic processes. We present a hypothesis in which changes in the dosage of 16p11.2 metabolic genes contribute to pathology through direct or indirect alterations in pathways that include amino acids or proteins, DNA, RNA, catabolism, lipid, energy (carbohydrate). This hypothesis suggests that research into the specific roles of each metabolic gene will help identify useful therapeutic targets.
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6. Czekóová K, Mareček R, Staněk R, Hartley C, Kessler K, Hlavatá P, Ošlejšková H, Brázdil M, Shaw DJ. Altered Patterns of Dynamic Functional Connectivity Underpin Reduced Expressions of Social-Emotional Reciprocity in Autistic Adults. Autism Res;2025 (Feb 24)
To identify the neurocognitive mechanisms underpinning the social difficulties that characterize autism, we performed functional magnetic resonance imaging on pairs of autistic and non-autistic adults simultaneously whilst they interacted with one another on the iterated Ultimatum Game (iUG)-an interactive task that emulates the reciprocal characteristic of naturalistic interpersonal exchanges. Two age-matched sets of male-male dyads were investigated: 16 comprised an autistic Responder and a non-autistic Proposer, and 19 comprised non-autistic pairs of Responder and Proposer. Players’ round-by-round behavior on the iUG was modeled as reciprocal choices, and dynamic functional connectivity (dFC) was measured to identify the neural mechanisms underpinning reciprocal behaviors. Behavioral expressions of reciprocity were significantly reduced in autistic compared with non-autistic Responders, yet no such differences were observed between the non-autistic Proposers in either set of dyads. Furthermore, we identified latent dFC states with temporal properties associated with reciprocity. Autistic interactants spent less time in brain states characterized by dynamic inter-network integration and segregation among the Default Mode Network and cognitive control networks, suggesting that their reduced expressions of social-emotional reciprocity reflect less efficient reconfigurations among brain networks supporting flexible cognition and behavior. These findings advance our mechanistic understanding of the social difficulties characterizing autism.
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7. Dede AJO, Xiao W, Vaci N, Cohen MX, Milne E. Exploring EEG resting state differences in autism: sparse findings from a large cohort. Mol Autism;2025 (Feb 24);16(1):13.
BACKGROUND: Autism is a complex neurodevelopmental condition, the precise neurobiological underpinnings of which remain elusive. Here, we focus on group differences in resting state EEG (rsEEG). Although many previous reports have pointed to differences between autistic and neurotypical participants in rsEEG, results have failed to replicate, sample sizes have typically been small, and only a small number of variables are reported in each study. METHODS: Here, we combined five datasets to create a large sample of autistic and neurotypical individuals (n = 776) and extracted 726 variables from each participant’s data. We computed effect sizes and split-half replication rate for group differences between autistic and neurotypical individuals for each EEG variable while accounting for age, sex and IQ. Bootstrapping analysis with different sample sizes was done to establish how effect size and replicability varied with sample size. RESULTS: Despite the broad and exploratory approach, very few EEG measures varied with autism diagnosis, and when larger effects were found, the majority were not replicable under split-half testing. In the bootstrap analysis, smaller sample sizes were associated with larger effect sizes but lower replication rates. LIMITATIONS: Although we extracted a comprehensive set of EEG signal components from the data, there is the possibility that measures more sensitive to group differences may exist outside the set that we tested. The combination of data from different laboratories may have obscured group differences. However, our harmonisation process was sufficient to reveal several expected maturational changes in the EEG (e.g. delta power reduction with age), providing reassurance regarding both the integrity of the data and the validity of our data-handling and analysis approaches. CONCLUSIONS: Taken together, these data do not produce compelling evidence for a clear neurobiological signature that can be identified in autism. Instead, our results are consistent with heterogeneity in autism, and caution against studies that use autism diagnosis alone as a method to categorise complex and varied neurobiological profiles.
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8. Efthimiou TN, Wilks CE, Foster S, Dodd M, Sasson NJ, Ropar D, Lages M, Fletcher-Watson S, Crompton CJ. Social motor synchrony and interactive rapport in autistic, non-autistic, and mixed-neurotype dyads. Autism;2025 (Feb 24):13623613251319585.
During social interactions, people often mirror each other’s movements and gestures, a process called synchrony. This synchrony helps foster a sense of connection, understanding, and ease in communication. While research suggests that autistic people may show less synchrony in their movements compared to non-autistic people, the implications of this difference for building rapport remain unclear. Specifically, it is unknown whether synchrony plays a similar role in rapport-building for autistic individuals as it does for non-autistic individuals, particularly in interactions with autistic versus non-autistic partners. This study had three goals to investigate whether synchrony is lower in conversations involving at least one autistic person; to explore the relationship between synchrony and rapport; and to compare how much autistic and non-autistic people rely on synchrony to feel connected. The findings suggest that while synchrony positively influences rapport more strongly in non-autistic interactions, autistic individuals may rely less on synchrony for rapport. These results highlight differences in how social connection is built, offering deeper insight into social interactions for autistic and non-autistic people.
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9. Foster SJ, Ackerman RA, Wilks CE, Dodd M, Calderon R, Ropar D, Fletcher-Watson S, Crompton CJ, Sasson NJ. Rapport in same and mixed neurotype groups of autistic and non-autistic adults. Autism;2025 (Feb 24):13623613251320444.
Autistic adults sometimes get along better with other autistic people compared to non-autistic people, but so far this has only been studied in two-person interactions. This study examined how well autistic and non-autistic people develop rapport in a group setting and whether rapport differs when group members share or do not share a diagnosis. We assigned 143 adults to 36 groups of four adults each. Some groups only had autistic members, some only had non-autistic members, and some were « mixed » groups of autistic and non-autistic members. Groups participated in a tower-building task for 5 minutes and afterwards completed a survey about rapport with the group. The groups of all-autistic participants expressed that their interactions were more enjoyable and friendly than the mixed groups. Autistic participants reported lower rapport when interacting with non-autistic adults, while non-autistic participants reported similar rapport whether interacting with autistic or non-autistic group members. Overall, findings are not consistent with a social deficit model of autism, as autistic adults often established rapport with partners in a group setting. Their level of rapport, however, depended strongly on the social context, particularly whether other autistic people were also in the group.
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10. Gu Y, Maria-Stauffer E, Bedford SA, Romero-Garcia R, Grove J, Børglum AD, Martin H, Baron-Cohen S, Bethlehem RAI, Warrier V. Polygenic scores for autism are associated with reduced neurite density in adults and children from the general population. Mol Psychiatry;2025 (Feb 24)
Genetic variants linked to autism are thought to change cognition and behaviour by altering the structure and function of the brain. Although a substantial body of literature has identified structural brain differences in autism, it is unknown whether autism-associated common genetic variants are linked to changes in cortical macro- and micro-structure. We investigated this using neuroimaging and genetic data from adults (UK Biobank, N = 31,748) and children (ABCD, N = 4928). Using polygenic scores and genetic correlations we observe a robust negative association between common variants for autism and a magnetic resonance imaging derived phenotype for neurite density (intracellular volume fraction) in the general population. This result is consistent across both children and adults, in both the cortex and in white matter tracts, and confirmed using polygenic scores and genetic correlations. There were no sex differences in this association. Mendelian randomisation analyses provide no evidence for a causal relationship between autism and intracellular volume fraction, although this should be revisited using better powered instruments. Overall, this study provides evidence for shared common variant genetics between autism and cortical neurite density.
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11. Hogan AL, Smith K, Mian ND, Black C, Hunt E, Knott C, Moser C, Smith J, Caravella KE, Hills K, Fairchild A, Carter AS, Roberts J. Utility of the Modified Anxiety Dimensional Observation Scale in Autistic Preschoolers with Varying Intellectual Functioning. J Clin Child Adolesc Psychol;2025 (Feb 24):1-15.
OBJECTIVE: Co-occurring anxiety affects 40-80% of autistic individuals; however, little is understood about how anxiety manifests in young autistic children, especially those with intellectual disability (ID), partly due to the paucity of measures designed to assess anxiety symptoms in this population. The present study examined the utility of the Modified Anxiety Dimensional Observation Scale (M-Anx-DOS), an observational measure of anxiety-related behaviors, in preschool-aged autistic children with and without ID. METHOD: This study included 48 autistic children (Mean age = 43.96 months; 81.3% with ID) and 30 non-autistic (NA) controls (Mean age = 43.66 months). Anxiety-related behaviors were measured during the M-Anx-DOS. Parent-reported anxiety symptoms were assessed via the Preschool Anxiety Scale-Revised (PAS-R). RESULTS: Groups exhibited comparable scores on both the M-Anx-DOS and PAS-R. Within the autism group, a subset of M-Anx-DOS scores were related to age, autistic features, or IQ. The M-Anx-DOS exhibited excellent inter-rater reliability and acceptable internal consistency. Convergent validity was promising, with specific M-Anx-DOS scores correlated with parent-reported social, separation, and overall anxiety symptoms. M-Anx-DOS scores were not correlated with parent-reported ADHD or externalizing symptoms, suggesting strong discriminant validity. CONCLUSIONS: This study provides preliminary evidence of the reliability and validity of the M-Anx-DOS. These findings are promising given the importance of observational measurement of anxiety and lack of existing measures for this critical developmental period. Given the sample size and the complexity of identifying prodromal signs of anxiety in young autistic preschoolers with ID, future longitudinal work is essential to replicate and extend this work.
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12. Levato L, Hochheimer S, Wang H, Wallace L, Hyman S, Anderson C, Warren Z, Butter E, Martin R, Lee E, Smith T, Johnson C. Parent Outcomes from a Randomized Controlled Trial Investigating a Modular Behavioral Intervention for Young Autistic Children. Autism Res;2025 (Feb 24)
We assessed parent stress and competence outcomes from participation in a randomized controlled trial of a modular behavioral intervention (Modular Approach for Young Autistic Children; MAYAC) compared to a treatment-as-usual comprehensive behavioral intervention (CBI). Throughout their participation, parents of military families were included in their child’s treatment (e.g., identifying goals, learning strategies to support their child) and reported on their feelings of stress using the Parenting Stress Index-4, Short Form (PSI-4), as well as their feelings of satisfaction and efficacy as a parent on the Parenting Sense of Competence (PSOC) scale. A linear mixed model evaluated the differences in stress and competence from baseline to each assessment period through follow-up. There were no significant differences between groups in stress or competence ratings; however, there were within-group changes in both treatment arms over the course of the trial. In both groups, parent stress decreased, and competence increased over time, continuing to suggest that behavioral analytic intervention for young children with autism can promote positive parent outcomes. Trial Registration: ClinicalTrial.gov identifier: NCT04078061.
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13. Li H, Liu S, Lin C, Wu Y, Wu X, Huang Y, Wu Y, Tong X, Xu X. Intravenous esketamine in pediatric Rett syndrome: An open-label, early phase 1 pilot study. Mol Ther Methods Clin Dev;2025 (Mar 13);33(1):101413.
Rett syndrome (RTT) is a severe neurodevelopmental disorder. N-Methyl-d-aspartate receptor (NMDAR) antagonism has shown therapeutic potential in preclinical RTT models. We performed a pilot study to explore whether intravenous esketamine, an NMDAR antagonist, alleviates the symptoms of pediatric RTT. This was a prospective, single-arm, single-site, open-label, early phase 1 pilot study. Three girls with classic RTT aged 5-10 years were enrolled. Esketamine was intravenously administrated once per week for 5 weeks. The efficacy assessments included RTT-related questionnaires and video electroencephalograms (VEEGs). Prespecified adverse events (AEs) were monitored using clinical observations and standard laboratory tests. The treatment with intravenous esketamine was generally well tolerated and safe, with some patients experiencing mild AEs, including self-alleviating nausea, vomiting, and irritability. Three participants showed minimal improvements in their Clinical Global Impression Scale-Improvement, Rett Syndrome Behavior Questionnaire, and Revised Motor Behaviors Assessment Scale scores. However, individual differences were observed in the efficacy measures. VEEGs indicated gradual increases in posterior dominant rhythm peak frequency throughout the intervention. This pilot study highlights the potential of esketamine treatment for improving behavioral dysfunction in patients with RTT. Investigating the appropriate dosage form of esketamine may enhance its beneficial effects in RTT with fewer undesirable features.
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14. Maciver D, Roy AS, Johnston L, Boilson M, Curnow E, Johnstone-Cooke V, Rutherford M. Waiting Times and Influencing Factors in Children and Adults Undergoing Assessment for Autism, ADHD, and Other Neurodevelopmental Differences. Autism Res;2025 (Feb 24)
This study explored waiting times and the factors influencing them in child and adult populations undergoing assessment for autism, ADHD, and other neurodevelopmental differences. The analysis focused on a retrospective review of 408 cases with assessments completed between October 2021 and May 2022, conducted by 30 diagnosing teams in Scotland. Data included age, final diagnosis, demographics, medical and developmental history, contact frequency, and assessment service adherence to best-practice standards. Waiting times were calculated, and relationships were analyzed using linear regression. Median waiting times were 525 days (IQR 329-857) for children/adolescents and 252 days (IQR 106-611) for adults. Only 20% of children’s and 47% of adult assessments met the proposed 252-day diagnostic time target. Autism and ADHD were the most common diagnoses. Receiving > 1 neurodevelopmental diagnosis on completion was uncommon. Demographic factors did not significantly affect waiting times. Children/adolescents with more complex developmental and medical histories experienced longer waits (100.3 weeks vs. 67.7 weeks; p < 0.001), while adults with similar histories had shorter waits (32.7 weeks vs. 57.4 weeks; p = 0.016). Adults with ADHD experienced longer waits than autistic adults (63.4 weeks vs. 38.6 weeks, p = 0.002). Adherence to best-practice quality standards was associated with shorter waits for children (β = 0.27, p = 0.002), but the relationship between standard adherence at different stages and for adults was less clear. More frequent appointments correlated with shorter adult waits (33.7 weeks vs. 59.2 weeks, p = 0.015). Gender distribution was balanced among adults, but children's services included more boys. The study highlights long waits and the need for improvement in processes.
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15. Martins D. Neuroimmunity at the edge: The skull as a brain – periphery immunological hub in autism spectrum disorder. Brain Behav Immun;2025 (Feb 21)
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16. Mathur M, Li R, McKay S, Markham C, Ernest DK, Sharma S. Associations Between Sociodemographic Predictors and Age of Referral for Autism Spectrum Disorder (ASD) Diagnosis Since the Beginning of the COVID-19 pandemic. J Racial Ethn Health Disparities;2025 (Feb 24)
PURPOSE: Sociodemographic characteristics, such as race and ethnicity, are associated with delays in ASD diagnosis. However, limited literature has examined the characteristics associated with delayed diagnosis since the start of the COVID-19 pandemic. This study aimed to identify the individual and aggregate sociodemographic characteristics associated with the age at which a child receives a referral for a diagnosis (from March 2020 to May 2023) and evaluate the impacts of the pandemic on this association. METHODS: Using cross-sectional data obtained from patients’ electronic health records and the U.S. Census Bureau, we examined associations using linear regressions (N = 507). A subgroup analysis was conducted comparing two pandemic-related time frame phases: acute (March 2020-December 2021) and endemic (January 2022-May 2023). RESULTS: The mean age of referral was 37.3 months; 83.2% were Medicaid recipients, 42.6% were Latino/Hispanic, and 29.8% were Black non-Hispanic. Children were referred for an evaluation at an older age during the acute phase compared to the endemic phase (40.4 vs. 35.4 months). There were no significant associations between race and ethnicity and age of referral. Population educational attainment was negatively associated with the age of referral (p < 0.05). The subgroup analysis showed a positive association between median population income and age of referral during the endemic phase (p < 0.05). CONCLUSION: Referrals to receive a diagnosis occur later than the screening recommendations. Future work should focus on developing health system-wide practices, particularly among health systems serving large proportions of underserved populations, targeting early referrals for an evaluation to receive an ASD diagnosis.
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17. Mattingly Z, Chetty S. Untangling the Molecular Mechanisms Contributing to Autism Spectrum Disorder Using Stem Cells. Autism Res;2025 (Feb 24)
Autism spectrum disorder (ASD) is a complex neuro developmental condition characterized by significant genetic and phenotypic variability, making diagnosis and treatment challenging. The heterogeneity of ASD-associated genetic variants and the absence of clear causal factors in many cases complicate personalized care. Traditional models, such as postmortem brain tissue and animal studies, have provided valuable insights but are limited in capturing the dynamic processes and human-specific aspects of ASD pathology. Recent advances in human induced pluripotent stem cell (iPSC) technology have transformed ASD research by enabling the generation of patient-derived neural cells in both two-dimensional cultures and three-dimensional brain organoid models. These models retain the donor’s genetic background, allowing researchers to investigate disease-specific cellular and molecular mechanisms while identifying potential therapeutic targets tailored to individual patients. This commentary highlights how stem cell-based approaches are advancing our understanding of ASD and paving the way for more personalized diagnostic and therapeutic strategies.
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18. Raso M, Guarino M, Chiarelli F, Matricardi S, Prezioso G. EEG abnormalities in a 3-year-old child with developmental delay and autistic-like behavior: a case of Phelan-McDermid syndrome. Acta Neurol Belg;2025 (Feb 24)
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19. Robinson J, Gendelberg D, Chung A, Jimenez-Almonte JH, Khandehroo B, Anand N. Segmental Interbody, Muscle-Preserving, Ligamentotaxis-Enabled Reduction: « SIMPLER » Technique for cMIS Correction of ASD. Int J Spine Surg;2025 (Feb 24);19(S1):S37-s54.
BACKGROUND: Correction of adult spinal deformity (ASD) through minimally invasive techniques is a challenging endeavor and has typically been reserved for experienced surgeons. This publication aims to be the first high-resolution technique guide to demonstrate a reproducible technique for ASD correction utilizing circumferential minimally invasive surgery (cMIS) without an osteotomy. The Segmental Interbody, Muscle-Preserving, Ligamentotaxis-Enabled Reduction (SIMPLER) technique is a novel ligamentotaxis-based scoliosis surgery that represents a paradigm shift from traditional osteotomies toward patient-specific correction. METHODS: The senior author’s (N.A.) cMIS technique for ASD correction without an osteotomy is described using high-resolution photographs, computer-generated imagery (CGI), and a case example. Step-by-step intraoperative photographs document a novel muscle-preserving posterior spinal exposure, spinal robotic safety protocol for instrumentation, dedicated deformity instrumentation system, rod reduction sequence, and minimally invasive fusion technique. CGI assists to reinforce technical considerations described by intraoperative photographs. RESULTS: The SIMPLER technique is documented from incision to closure with high-resolution pictures including CGI to highlight concepts documented in photographs. Technical considerations were detailed for all aspects involved in the planning and execution of an osteotomy-free deformity correction. CONCLUSION: This represents the first in-depth technical description of ligamentotaxis-based, osteotomy-free, ASD scoliosis correction. The SIMPLER approach is reproducible and minimally invasive and can be done routinely for appropriately selected deformity candidates. This technique serves as a foundation to externally validate previously described cMIS ASD deformity correction outcomes. CLINICAL RELEVANCE: Circumferential minimally invasive spinal deformity correction is reproducible and can be achieved reliably through the use of the SIMPLER technique, without the use of an osteotomy.
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20. Sandberg SG, Nyroos M, Waling M, Olsson C. Navigating School Meal Environments: Perspectives of Pupils Diagnosed With Autism Spectrum Disorder or ADHD. J Sch Nurs;2025 (Feb 24):10598405251319982.
Busy and unstructured school environments can present challenges for pupils diagnosed with autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). Although school restaurants may be demanding, limited research has focused on these pupils. This study explores how pupils diagnosed with ASD or ADHD navigate the physical, social, and pedagogical environments of school meals. Based on ethnographic fieldwork in four Swedish schools, involving observations, conversations, and interviews with five 12-year-old boys and their mothers, findings show how pupils valued having a teacher or classmate nearby during lunchtime. Crowded and narrow spaces posed motor challenges, leading to spills and comments on table manners. Socially, pupils alternated between engaging with others and seeking solitude to escape noise and interactions. The study calls for reflection on how societal norms and environmental structures of school meals impact pupils diagnosed with ASD or ADHD, emphasizing the role of school nurses in identifying potential issues.
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21. Sheibani Tezerji S, Jonaidi H, Sheibani V, Moslemizadeh A, Azizi S, Dalili M, Bashiri H, Amiresmaili S. Effects of Valproic Acid and Maternal Deprivation on Autism-Like Behaviours and Neurodevelopmental Outcomes in Female and Male Rats. Int J Dev Neurosci;2025 (Feb);85(1):e70004.
Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by persistent social communication deficits and restricted, repetitive behaviours, with significant overlap in anxiety-related symptoms. Both genetic and environmental factors contribute to the development of ASD, with early-life stressors, such as maternal separation (MS), and exposure to neurotoxic agents, like valproic acid (VPA), being key environmental contributors. This study investigates the combined impact of maternal deprivation (MD) and postnatal VPA exposure on autism-like behaviours and neurodevelopmental outcomes in male and female rats. Rats exposed to MD from postnatal days 2 to 4 exhibited significant changes in social interaction and anxiety-like behaviours, with female rats being more sensitive to MD than males. Postnatal VPA exposure resulted in similar behavioural alterations, including increased anxiety and social impairment, aligning with previous findings of VPA-induced neurodevelopmental deficits. A combination of MD and VPA exposure exacerbated anxiety-like behaviours in females, indicating that early-life stress and environmental toxins can synergistically affect neurodevelopment. Our results further suggest that the impact of these exposures may differ between sexes, with females showing heightened sensitivity to both MD and VPA-induced stress. These findings provide valuable insights into the complex interactions between genetic, environmental and epigenetic factors in ASD pathophysiology. The study underscores the critical role of early-life stressors, such as MD, in exacerbating neurodevelopmental disorders, particularly when combined with neurotoxic environmental factors like VPA. The sex-specific differences observed in behavioural outcomes suggest the importance of considering biological sex in future ASD research and therapeutic strategies.
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22. Tian Y, Qiao H, Odamah K, Zhu LQ, Man HY. Role of androgen receptors in sexually dimorphic phenotypes in UBE3A-dependent autism spectrum disorder. iScience;2025 (Feb 21);28(2):111868.
Autism spectrum disorders (ASDs) involve social, communication, and behavioral challenges. ASDs display a remarkable sex difference with a 4:1 male to female prevalence ratio; however, the underlying mechanism remains largely unknown. Using the UBE3A-overexpressing mouse model for ASD, we studied sexually dimorphic changes at behavioral, genetic, and molecular levels. We found that male mice with extra copies of Ube3A exhibited greater impairments in social communication, long-term memory, and pain sensitivity compared to females. UBE3A-mediated degradation reduced androgen receptor (AR) levels in both sexes but only male mice showed significant dysregulation in the expression of AR target genes. Importantly, restoring AR levels in the brain normalized levels of AR target genes, and rescued the deficits in social preference, grooming, and memory in male UBE3A-overexpressing mice, without affecting females. These findings reveal the critical role of AR signaling in sex-specific changes linked to UBE3A-dependent ASD.
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23. Vigil-Pérez A, Blázquez A, Garcia-Delgar B, Ortiz AE, Borràs R, Morer A, Escalona R, Lázaro L. Phenomenology of repetitive and restrictive behaviors and sensory phenomena in neurodevelopmental disorders: an exploratory study. BMC Psychiatry;2025 (Feb 24);25(1):163.
BACKGROUND: Repetitive and restrictive behaviors (RRB) include simple motor stereotypes, tics and complex ritualized and rigid behaviors that are core symptoms in neurodevelopmental disorders such as obsessive-compulsive disorder (OCD), Tourette syndrome (TS) or autism spectrum disorder (ASD). Sensory phenomena (SP) are uncomfortable feelings, including bodily sensations, sense of inner tension, « just-right » perceptions, feelings of incompleteness, or « urge-only » phenomena, which have been described to precede, trigger, or accompany RRB. In such clinical contexts RRB and SP may be considered common variables that affect multiple aspects of daily functioning and are treatment targets. OBJECTIVE: This study aims to further understand RRB and SP phenomenology in children and adolescents diagnosed with OCD, TS or ASD and identify whether specific RRB or SP can distinguish these groups. METHODS: We assessed RRB and SP in participants aged between 6 and 17 with a main diagnosis of OCD (n = 23), TS (n = 19), or ASD (n = 21) with the Repetitive Behavior Scale-Revised (RBS-R) and The University of Sao Paulo-Sensory Phenomena Scale (USP-SPS). RESULTS: The RBS-R mean was 17.3 ± 14.9 with no group differences for total RBS-R symptom severity, except for the routine subscale (OCD > ASD, p = 0.03). Ninety percent of participants showed at least one type of SP on the USP-SPS with a mean total severity of 5.3 ± 3.8, with no statistical differences between groups. The most frequent SP subtype was physical sensations (68.4%). CONCLUSION: RRB and SP are transdiagnostic features in neurodevelopmental disorders and the RBS-R and the USP-SPS might be useful in their assessment and treatment plan.
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24. Yang R, Ma L, Peng H, Zhai Y, Zhou G, Zhang L, Zhuo L, Wu W, Guo Y, Han J, Jing L, Zhou X, Ma X, Li Y. Microalgae-based bacteria for oral treatment of ASD through enhanced intestinal colonization and homeostasis. Theranostics;2025;15(6):2139-2158.
Rationale: Exogenous supplementation of beneficial intestinal bacteria can alleviate the behavioural symptoms of psychiatric disorders, such as autism spectrum disorder (ASD), through gut-brain interactions. However, the application of beneficial bacteria, such as Lactobacillus reuteri (L. reuteri), for treating ASD is hindered by limited gut colonization. Methods: Utilizing Spirulina platensis (SP) as a natural microcarrier for intestinal bacteria, a safer and more natural binding approach was employed to bind intestinal bacteria to the surface of SP to produce SP-intestinal bacteria. Due to the high adhesion efficiency and long residence time of SP in the intestines, SP-intestinal bacteria exhibit stronger intestinal colonization ability and better therapeutic effects on ASD. Results: SP is an effective carrier that can bind and deliver bacteria of different shapes and with different gram-staining properties. SP-intestinal bacteria exhibited enhanced colonization capabilities both ex vivo and in vivo. Further research showed that SP-L. reuteri had greater intestinal colonization efficiency than L. reuteri. SP-L. reuteri showed a stronger therapeutic effect on alleviating social deficits in an ASD mouse model by modulating the gut microbiota, enhancing intestinal barrier integrity, reducing lipopolysaccharide entry into the blood and mediating the neuroinflammatory response in the paraventricular thalamic nucleus. Conclusions: This study reports a microalgae-assisted intestinal bacterial delivery system for enhancing intestinal bacterial transplantation for gut-brain axis- or other intestinal-related diseases.
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25. Zhang LY, Wang M, Fu XW, Chen SN, Gu J, Li SB, Chu MY, Wang YY, Wang Y, Chan RCK. Moderation Effect of Emotional Expressivity on the Associations Between Schizotypal Traits, Autistic Traits and Social Pleasure. Psych J;2025 (Feb 24)
Diminished social pleasure has been reported in people with schizophrenia and autism spectrum disorder (ASD). Previous studies suggested that emotional expressivity is closely correlated with social pleasure. However, the underlying psychological mechanisms between traits related to schizophrenia and ASD, emotional expressivity, and social pleasure remain unclear. This study aimed to investigate the relationship between subclinical schizotypal and autistic traits, facial expressions, and social pleasure. Eighty-six healthy participants (mean age = 20.35 ± 0.26 years, 44 males) were recruited to complete an emotion elicitation task and an autobiographical recalling task, while their facial expressions were videotaped for computerized analysis using the FaceReader. The intensity of different facial expressions (happy, sad, angry, surprised, scared, and disgusted), valence, and arousal were extracted. The self-report Multidimensional Schizotypy Scale (MSS), Autism-Spectrum Quotient (AQ), and Anticipatory and Consummatory Interpersonal Pleasure Scale (ACIPS) were administered to measure subclinical traits and social pleasure. Partial correlation analysis and moderation analysis were performed. Both schizotypal and autistic traits were negatively correlated with social pleasure. The moderation effects of angry facial expression for both schizotypal and autistic traits on their associations with social pleasure were significant. In addition, scared and surprised facial expressions moderated the associations between positive and negative dimensions of schizotypy and social pleasure, while arousal moderated the associations between autistic traits and social pleasure. Our study identified different moderating effects of facial emotion expressions on schizotypal and social anhedonia and autistic traits and social anhedonia, thereby revealing possible different psychopathological mechanisms underlying similar social anhedonia in subclinical populations.