Pubmed du 03/01/25
1. Psychometric evaluation of the Autism Symptom Dimensions Questionnaire. Dev Med Child Neurol;2025 (Jan 3)
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2. Bridi MCD, Peixoto L. Excitatory/Inhibitory imbalance as a mechanism linking autism and sleep problems. Curr Opin Neurobiol;2025 (Jan 3);90:102968.
Sleep problems occur more frequently in individuals with autism spectrum disorder (ASD) than in typically developing individuals, and recent studies support a genetic link between ASD and sleep disturbances. However, it remains unclear how sleep problems may be mechanistically connected to ASD phenotypes. A longstanding hypothesis posits that an imbalance between excitatory and inhibitory (E/I) signaling in the brain underlies the behavioral characteristics of ASD. In recent years, emerging evidence has shown that regulation of the E/I ratio is coupled to sleep/wake states in wild-type animal models. In this review, we will explore the idea of altered E/I regulation over the sleep/wake cycle as a mechanism bridging sleep disruption and behavioral phenotypes in ASD.
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3. Bruens K, Srivastava A, Ringeling LT, Hermans RA, Liang J, Koch BCP, de Winter BCM, Hillegers MHJ, Dierckx B. [Barriers for including sufficient participants in multi-center drug research]. Tijdschr Psychiatr;2024;66(10):586-590.
BACKGROUND: The SPACe 2: STAR trial is a multicenter trial in children with an autism spectrum disorder, divided over nine centers in the Netherlands. However, it is challenging to include enough participants due to various factors, including the varying status of the disorder and willingness of parents and children. AIM: To identify and overcome the bottlenecks for practitioners during the trial to prevent major delays. METHOD: Online questionnaire with four multiple choice questions and six open questions to 70 practitioners from nine participating centers within the SPACe 2: STAR trial. RESULTS: The total amount of respondents was 31 (44%). Practitioners frequently experienced adequate visibility and guidance by the researchers (42%). The primary reasons for physicians for not including patients were: no permission from parents (32%), forgetfulness regarding the study (32%), and fear of injections (16%). Respondents expressed a need for regular reminders (13%), extra promotion materials (23%), and more frequent presence of researchers during meetings. CONCLUSION: Problems with inclusion can delay 45% of research. Practitioners are crucial: regular contact and timely problem solving promote inclusion. In addition, a schematic overview with interventions and the course of the study can simplify inclusion.
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4. Caffarelli C, Gonnelli S. The Management of Bone Defects in Rett Syndrome. Calcif Tissue Int;2025 (Jan 3);116(1):11.
Rett syndrome (RS) is a rare neurodevelopmental disorder primarily caused by mutations in the X-linked methyl-CpG binding protein 2 (MECP2) gene, responsible for encoding MECP2 which plays a pivotal role in regulating gene expression. The neurological and non-neurological manifestations of RS vary widely in severity depending on the specific mutation type. Bone complications, mostly scoliosis but also osteoporosis, hip displacement, and a high rate of fractures, are among the most prevalent non-neurological comorbidities observed in girls with RS. Low bone mineral density (BMD) is primarily due to a slow rate of bone formation due to dysfunctional osteoblast activity. The use of anticonvulsants, immobilization, low physical activity, poor nutrition, and inadequate vitamin D intake all significantly hamper skeletal maturation and the accumulation of bone mass in RS girls, making them more susceptible to fragility fractures. In RS patients, the upper and lower limbs are the most common sites for fractures which are due to both a reduced BMD and a diminished bone size. This review summarizes the knowledge on risk factors for fragility fracture in patients with RS and proposes a potential diagnostic and therapeutic pathway to enhance low BMD and mitigate the risk of fragility fractures. In particular, this review focused on the importance of clinical and instrumental evaluation of bone status as a basis for adequate planning of nutritional, pharmacological, and surgical interventions to be undertaken. Additionally, the management of bone defects in individuals with RS should be customized to meet each person’s specific needs, abilities, and general health.
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5. da Silva SH, Felippin MR, de Oliveira Medeiros L, Hedin-Pereira C, Nogueira-Campos AA. A scoping review of the motor impairments in autism spectrum disorder. Neurosci Biobehav Rev;2025 (Jan 3):106002.
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder mainly defined by impairments in communication and socialization. Although motor symptoms are not typically considered central to the disease, their high frequency and early onset have been recurrently reported in the literature. Therefore, this scoping review provides a broad description of these motor impairments across all ages, as well as a discussion of their relevance and relation to other clinical aspects of ASD. The scientific search was carried out in Scopus, Pubmed, Embase, and Web of Science databases. Nineteen studies were selected after applying the eligibility criteria. The studies analyzed 784 participants diagnosed with ASD compared to 540 controls. Motor function was assessed by means of varied kinds of scales and questionnaires. The main motor domains evaluated included features of fine and gross motor skills, manual dexterity, coordination/motor control/praxis, balance, running speed/agility, strength, gait, whole-body movements, aiming and catching (ball skills), and repetitive movements. Motor impairments are consistently observed in ASD from the first years of life, persisting into adulthood. It includes a significant deficit in performance of manual, posture, strength, and gait behavior/skills. The deficits described in ASD comprised impairments in fine and gross motor skills, lower balance, lower cadence, and greater variation of gait control, as well as weakness among other features that leads this population to move in an adaptive way affecting their interactions in real life.
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6. Desroches ML. Nurses should prioritise constipation prevention for people with severe/profound intellectual and developmental disabilities and multiple long-term conditions. Evid Based Nurs;2025 (Jan 3)
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7. Inamdar A, Gurupadayya B, Sharma H. The Role of Glial Cells in Autism Spectrum Disorder: Molecular Mechanisms and Therapeutic Approaches. CNS Neurol Disord Drug Targets;2025 (Jan 3)
Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by social communication deficits and repetitive behaviors. Emerging evidence highlights the significant role of glial cells, particularly astrocytes and microglia, in the pathophysiology of ASD. Glial cells are crucial for maintaining homeostasis, modulating synaptic function, and responding to neural injury. Dysregulation of glial cell functions, including altered cytokine production, impaired synaptic pruning, and disrupted neuroinflammatory responses, has been implicated in ASD. Molecular mechanisms underlying these disruptions involve aberrant signaling pathways, such as the mTOR pathway, and epigenetic modifications, leading to altered gene expression profiles in glial cells. Moreover, microglial activation and reactive astrocytosis contribute to an inflammatory environment that exacerbates neural circuit abnormalities. Understanding these molecular mechanisms opens avenues for therapeutic interventions. Current therapeutic approaches targeting glial cell dysfunction include anti-inflammatory agents, modulators of synaptic function, and cell-based therapies. Minocycline and ibudilast have shown potential for modulating microglial activity and reducing neuroinflammation. Additionally, advancements in gene editing and stem cell therapy hold promise for restoring normal glial function. This abstract underscores the importance of glial cells in ASD. It highlights the need for further research to elucidate the complex interactions between glial dysfunction and ASD pathogenesis, aiming to develop targeted therapies that can ameliorate the clinical manifestations of ASD.
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8. Jalilzadeh Khalet Abad S, Kalashipour Chir G, Heydari P, Fazilat A, Mortazavi Moghadam F, Valilo M. Hormonal disorders in autism spectrum disorders. Horm Mol Biol Clin Investig;2025 (Jan 6)
Autism spectrum disorder (ASD) is a pervasive neurobehavioral condition characterized by disruption of behavioral and emotional patterns in individuals with this condition. Given that various environmental and genetic factors play a fundamental role in the pathophysiology of ASD, it can be said that ASD is a multifaceted disease. This study used scientific databases including Google Scholar, PubMed, Scopus, and Semantic Scholar. In this review, we aimed to select manuscripts based on our field and relevant to the topic of our article. Emerging studies have shown that many neural, anatomical, and chemical factors play a role in the development of ASD. In this regard, an increasing body of studies has pointed out the relationship between chemical factors, including hormones, which play an important role in ASD. These hormones include melatonin, serotonin, thyroid, oxytocin, vasopressin, insulin-like growth hormone (IGF-1), etc. For instance, IGF-1 levels are low in ASD individuals, or melatonin levels are reduced in ASD individuals. Therefore, with take into account these findings, in this review, we decided to check over the association of these hormones to ASD and have a concise overview of their potential as therapeutic solutions to reduce the effects of ASD.
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9. Lee KS, Lee T, Kim M, Ignatova E, Ban HJ, Sung MK, Kim Y, Kim YJ, Han JH, Choi JK. Shared rare genetic variants in multiplex autism families suggest a social memory gene under selection. Sci Rep;2025 (Jan 3);15(1):696.
Autism spectrum disorder (ASD) affects up to 1 in 59 children, and is one of the most common neurodevelopmental disorders. Recent genomic studies have highlighted the role of rare variants in ASD. This study aimed to identify genes affected by rare variants shared by siblings with ASD and validate the function of a candidate gene FRRS1L. By integrating the whole genome sequencing data of 866 multiplex families from the Hartwell Foundation’s Autism Research and Technology Initiative and Autism Speaks MSSNG project, we identified rare variants shared by two or more siblings with ASD. Using shared rare variants (SRVs), we selected candidate genes for ASD. Gene prioritization by evolutionary features and expression alterations on autism identified FRRS1L in two families, including one with impaired social behaviors. One variant in this family was 6 bp away from human-specific trinucleotide fixation. Additionally, CRISPR/Cas9 experiments demonstrated downregulation by a family variant and upregulation by a fixed site. Population genetics further demonstrated that upregulation of this gene has been favored during human evolution. Various mouse behavioral tests showed that Frrs1l knockout specifically impairs social novelty recognition without altering other behavioral phenotypes. Furthermore, we constructed humanized mice by introducing human sequences into a mouse genome. These knockin mice showed improved abilities to retain social memory over time. The results of our population genetic and evolutionary analyses, behavior experiments, and genome editing propose a molecular mechanism that may confer a selective advantage through social memory enhancement and may cause autism-related social impairment when disrupted in humans. These findings highlight the role of FRRS1L, the AMPA receptor subunit, in social behavior and evolution.
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10. Lemes VB, Gaya AR, Mota J, Brand C. Self-perceived physical fitness and occurrences of individual levels of autistic traits in adolescents: a cluster association study. BMC Psychiatry;2025 (Jan 3);25(1):14.
BACKGROUND: The association between physical fitness and autistic traits in adolescents remains under explored, especially in adolescents. Understanding this relationship can provide strategies to improve the quality of life of these people. OBJECTIVE: To identify the association between cluster characteristics derived from levels of self-perceived physical fitness and the occurrences of individual levels of autistic traits in Brazilian adolescents. METHOD: This descriptive study employed an analytical, quantitative approach involving 515 adolescents aged 11 to 18 (245 boys and 270 girls). Autistic traits were assessed using the Autism Quotient (AQ50), while physical fitness was measured with the Self-Reported Physical Fitness Questionnaire (QAPA). Cluster analysis using descriptive statistics with bootstrapping and generalized estimating equations was performed. RESULTS: Boys reported higher physical fitness levels than girls, with significant differences in General Power Strength (QAPA 4) and Physical Fitness in Sports (QAPA 7). Girls scored slightly higher on social skills. AQ50 scores indicated that girls had higher aggregated difficulties in imagination, attention, communication, and social skills compared to boys. Higher self-perceived physical fitness was associated with lower levels of autistic traits in both genders. Girls with higher QAPA scores showed significant decreases in autistic traits related to social skills and overall AQ50 scores. Boys with higher physical fitness demonstrated reduced autistic traits in the domains of imagination and communication. Age-adjusted analyses confirmed these findings. CONCLUSION: There is a significant association between self-perceived physical fitness and autistic traits in adolescents. Higher physical fitness levels are linked to fewer autistic traits, highlighting the importance of promoting physical fitness to mitigate challenges associated with autistic traits and improve adolescents’ well-being.
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11. Li Y, Liu C, Jin Q, Yu H, Long H. H19/miR-484 axis serves as a candidate biomarker correlated with autism spectrum disorder. Int J Dev Neurosci;2025 (Feb);85(1):e10403.
BACKGROUND: Autism spectrum disorder (ASD) appears to be a common neurological developmental deficit disorder in pediatric patients, resulting in a tremendous burden on society. PURPOSE: The article aimed to explore early diagnostic markers for ASD. METHODS: Levels of long non-coding RNA (lncRNA) H19 and microRNA-484 (miR-484) were detected using fluorescence quantitative polymerase chain reaction (PCR). The Spearman method was applied for the correlation analysis with ASD severity. To evaluate the role of H19 and miR-484 role in ASD diagnosis, the receiver operator characteristic (ROC) curve was plotted. Luciferase reporter assay was used to confirm the targeting relationship between H19 and miR-484. The functions and pathways related to miR-484 target genes were annotated by Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis. RESULTS: Elevated H19 levels were detected in ASD patients, which was positively correlated with disease severity. MiR-484 showed a decreasing trend in ASD patients, while it was negatively related to disease severity. Both H19 and miR-484 can distinguish ASD cases from controls with an AUC of 0.878 and 0.868, respectively. Luciferase reporter assay determined the target relationship between H19 and miR-484., and their combination showed the highest diagnostic value for ASD (AUC = 0.906). GO and KEGG analysis demonstrated the targeted genes of miR-484 were related to the development of ASD, and EIF4G2 and SMARCA2 were the main core genes. CONCLUSION: H19 and miR-484 were dysregulated in ASD patients and were both associated with disease severity. The combined H19 and miR-484 represented a high diagnostic value for ASD.
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12. Madsen KB, Antonsen S, Wesselhøft RT, Thomsen PH, Thompson WK, Fan CC, Mortensen PB, Pedersen CB, Horsdal HT. Geographic variation of recorded neurodevelopmental disorders in children and adults. Dan Med J;2024 (Nov 5);71(12)
INTRODUCTION: While diagnosis rates of autism spectrum disorders (ASD) and attention deficit hyperactivity disorder (ADHD) vary within countries at a large-scale municipal level, small neighbourhood geographic variation remains understudied. In this nationwide study, we describe the rates of ASD and ADHD diagnoses in children and adults by geographical data zones of approximately 2,500 residents across Denmark. METHODS: We included a population of children born from 1993 through 2020 and an adult population born from 1977 through 2003. We followed children from their first birthday and adults from their 18th birthday to either diagnosis, death, emigration or 31 December 2021, whichever came first. Data were analysed using multilevel log-linear Poisson regression adjusting for age and sex. Data zones, a data-driven approach to define small geographical neighbourhoods, were used as the unit for spatial analyses. We present incidence rates in data zones and median incidence rate ratios (MRRs) as estimates of the variation in rates of the disorders between data zones. RESULTS: ASD and ADHD diagnoses among children showed considerable variations between data zones (ASD: MRR = 1.44; 95% confidence interval (CI): 1.42-1.47, ADHD: MRR = 1.38; 95% CI: 1.36-1.40), suggesting that the incidence can be 44% and 38% higher in high incidence zones than in others. Similar variations were observed for diagnoses among adults (ASD: MRR = 1.44; 95% CI: 1.40-1.48, ADHD: MRR = 1.44; 95% CI: 1.41-1.46). CONCLUSIONS: The large variations might reflect differential treatment seeking, referral practice and diagnostic procedures across Denmark. FUNDING: This study received funding from BERTHA – the Danish Big Data Centre for Environment and Health, and the Novo Nordisk Foundation Challenge Programme (grant NNF17OC0027864). TRIAL REGISTRATION: Not relevant.
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13. Manor-Binyamini I. Bedouin fathers of children with developmental disabilities-Stress, stigma and collaboration with professionals. Res Dev Disabil;2025 (Jan 3);157:104902.
BACKGROUND: Research has not fully elucidated the challenges experienced by the caregivers of children with developmental disabilities (DDs) in different sociocultural contexts. Studies on parents, especially fathers, of children with DDs in the Middle East are especially rare. Similarly, the subject of collaboration between Bedouin fathers and professionals has seen little research. This study fills these gaps by highlighting the experiences of Bedouin fathers raising children with DDs. AIMS: This study answered the following questions: A) Do stigma and stress affect the collaboration between Bedouin fathers and professionals? B) Do relationships exist between stigma, stress and collaboration? METHODS: Eighty-eight Bedouin fathers of children with DDs completed questionnaires on sociodemographic details, stigma, stress and collaboration between parents and professionals. Data were analysed using Pearson correlations, a correlation matrix and hierarchical linear regression. RESULTS: The findings revealed a significant positive relationship between stigma and stress, a significant negative relationship between stigma and collaboration and a significant negative relationship between stress and collaboration. Three demographic characteristics were associated with greater influence on fathers’ collaboration with professionals: 1) comorbidity in s child’s diagnosis, 2) age of DD diagnosis and 3) father’s age. CONCLUSIONS AND IMPLICATIONS: The findings emphasise the need to develop tailored intervention programmes to assist fathers in reducing their sense of stigma and stress and in increasing their competence in collaborating with professionals.
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14. Marcassa G, Dascenco D, Lorente-Echeverría B, Daaboul D, Vandensteen J, Leysen E, Baltussen L, Howden AJM, de Wit J. Synaptic signatures and disease vulnerabilities of layer 5 pyramidal neurons. Nat Commun;2025 (Jan 2);16(1):228.
Cortical layer 5 (L5) intratelencephalic (IT) and pyramidal tract (PT) neurons are embedded in distinct information processing pathways. Their morphology, connectivity, electrophysiological properties, and role in behavior have been extensively analyzed. However, the molecular composition of their synapses remains largely uncharacterized. Here, we dissect the protein composition of the excitatory postsynaptic compartment of mouse L5 neurons in intact somatosensory circuits, using an optimized proximity biotinylation workflow with high spatial accuracy. We find distinct synaptic signatures of L5 IT and PT neurons that are defined by proteins regulating synaptic organization and transmission, including cell-surface proteins (CSPs), neurotransmitter receptors and ion channels. In addition, we find a differential vulnerability to disease, with a marked enrichment of autism risk genes in the synaptic signature of L5 IT neurons compared to PT neurons. These results align with human studies and suggest that the excitatory postsynaptic compartment of L5 IT neurons is susceptible in autism. Our approach is versatile and can be broadly applied to other neuron types to create a protein-based, synaptic atlas of cortical circuits.
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15. Minnigulova A, Karpychev V, Davydova E, Pereverzeva D, Sorokin A, Tyushkevich S, Mamokhina U, Danilina K, Dragoy O, Arutiunian V. Altered thalamotemporal structural connectivity is associated with autistic traits in children with ASD. Behav Brain Res;2025 (Jan 3);481:115414.
BACKGROUND: Thalamocortical functional and structural connectivity alterations may contribute to clinical phenotype of Autism Spectrum Disorder (ASD). As previous studies focused mainly on thalamofrontal connections in ASD, we comprehensively investigated the thalamic functional networks and white matter pathways projecting also to temporal, parietal, occipital lobes and their associations with core and co-occurring conditions of this population. METHODS: A total of 38 children (19 with ASD) underwent magnetic resonance imaging and behavioral assessment. Functional and structural scans were processed to analyze between-group thalamic connectivity differences and their relationships to measurements of autistic traits and language abilities. RESULTS: No functional differences were found between groups across 20 networks in each hemisphere. However, we showed that the diffusion properties of thalamocortical pathways projecting to the right and left temporal lobes were disrupted in children with ASD. Additionally, there was a significant association between diffusion differences of thalamotemporal tracts and severity of autistic traits. CONCLUSIONS: Our findings on altered thalamotemporal structural but not functional connectivity contribute to the understanding of white matter organization of thalamocortical pathways in children with ASD.
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16. Pan N, Chen L, Wu B, Chen F, Chen J, Huang S, Guo C, Wu J, Wang Y, Chen X, Yang S, Jing J, Weng X, Lin L, Liang J, Wang X. Developing a simplified measure to predict the risk of autism spectrum disorders: Abbreviating the M-CHAT-R using a machine learning approach in China. Psychiatry Res;2025 (Jan 3);344:116353.
BACKGROUND: Early screening for autism spectrum disorder (ASD) is crucial, yet current assessment tools in Chinese primary child care are limited in efficacy. OBJECTIVE: This study aims to employ machine learning algorithms to identify key indicators from the 20-item Modified Checklist for Autism in Toddlers, revised (M-CHAT-R) combining with ASD-related sociodemographic and environmental factors, to distinguish ASD from typically developing children. METHODS: Data from our prior validation study of the Chinese M-CHAT-R (August 2016-March 2017, n = 6,049 toddlers) were reviewed. We extracted the 20-item M-CHAT-R data and integrated 17 sociodemographic and environmental risk factors associated with ASD development to strengthen M-CHAT-R’s machine learning screening. Five feature selection methods were used to extract subsets from the original set. Six machine learning algorithms were applied to identify the optimal subset distinguishing clinically diagnosed ASD toddlers from typically developing toddlers. FINDINGS: Nine features were grouped into three subsets: subset 1 contained unanimously recommended items (A1 [Follows point], A3 [Pretend play], A9 [Brings objects to show], A10 [Response to name] and A16 [Gazing following]). Subset 2 added two items (A17 [Gaining parent’s attention] and A18 [Understands what is said]), and subset 3 included two more items (A8 [Interest in other children] and child’s age). The top-performing algorithm resulted in a seven-item classifier of subset 2 with 92.5 % sensitivity, 90.1 % specificity, and 10.0 % positive predictive value. CONCLUSIONS: Machine learning classifiers effectively differentiate ASD toddlers from typically developing toddlers using a reduced M-CHAT-R item set. CLINICAL IMPLICATIONS: This highlights the clinical significance of machine learning-optimized models for ASD screening in primary health care centers and broader applications.
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17. Qiao FQ, Li SN, Du TT, Cheng WM, Sun YY, Qiang X, Dong YJ, Wang L. Spanning three decades: global research wave and future prospects of broader autism phenotype-a visual researches by CiteSpace and VOS viewer. Front Psychol;2024;15:1453140.
OBJECTIVES: To conduct a comprehensive review of the literature pertaining to the broader autism phenotype, the paper endeavors to delineate the key research directions and topics, document the current research trends, and furnish insightful analyses and novel perspectives to foster future advancements in the field, with the aid of CiteSpace and VOS viewer. METHODS: CiteSpace and VOS viewer are two kinds of software for visualizing citations that is intended to examine academic literature and identify possible sources of knowledge. The Web of Science Core Collection database was used to retrieve articles from 1994 to 2024 that discussed the autism phenotype in general. Following data collection, analyses were conducted using CiteSpace V.6.2.R4 (64-bit) on a number of topics, such as annual publication output, highly cited journals, affiliations with countries and institutions, eminent authors, cited references, and keywords. Knowledge maps, collaborative network analysis, cluster analysis, and strongest citation burst analysis were among the tools used to visualize the data. RESULTS: A total of 1,075 articles about the broader autism phenotype were found. Roughly speaking, the annual number of publications is rising. With 546 articles on the subject, the United States is the nation with the greatest amount of authority and influence (centrality of 0.32), with England (218 articles) and Canada (115 articles) coming in second and third, respectively. The cited journals and institutions are mainly from the United States. The research consistently emphasizes the academic achievement and engagement of broader autism phenotype when analyzing the most cited references and authors. CONCLUSION: This study used CiteSpace to analyze the state of the larger autism phenotype field and then identified research frontiers and hotspots. As new findings are made, global trends in more thorough studies of the autism phenotype suggest that interest in these studies will only grow.
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18. Rad AB, Villavicencio T, Kiarashi Y, Anderson C, Foster J, Kwon H, Hamlin T, Lantz J, Clifford GD. From motion to emotion: exploring challenging behaviors in autism spectrum disorder through analysis of wearable physiology and movement. Physiol Meas;2025 (Jan 2)
OBJECTIVE: This study aims to evaluate the efficacy of wearable physiology and movement sensors in identifying a spectrum of challenging behaviors, including self-injurious behavior (SIB), in children and teenagers with autism spectrum disorder (ASD) in real-world settings. APPROACH: We utilized a long-short-term memory (LSTM) network with features derived using the wavelet scatter transform to analyze physiological biosignals, including electrodermal activity and skin temperature, alongside three-dimensional movement data captured via accelerometers. The study was conducted in naturalistic environments, focusing on participants’ daily activities. MAIN RESULTS: Our findings indicate that the best performance in detecting challenging behaviors was achieved using movement data. The results showed a sensitivity of 0.62, specificity of 0.71, F1-score of 0.36, and an area under the ROC curve of 0.71. These results are particularly significant given the study’s focus on real-world scenarios and the limited existing research in this area. SIGNIFICANCE: This study demonstrates that using wearable technology to record physiological and movement signals can detect challenging behaviors in children with ASD in real-world settings. This methodology has the potential to greatly improve the management of these behaviors, thereby enhancing the quality of life for children with ASD and their caregivers. This approach marks a significant step forward in applying the outcome of ASD research in practical, everyday environments.
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19. Ramadan QM, Sabaghi A, Heirani A. Focusing Attention to Improve Throwing Skills in Children With Autism Spectrum Disorder: Exploring the Influence of Working Memory. Occup Ther Int;2025;2025:8855971.
This study is aimed at investigating the impact of internal and external attention focus on learning a throwing skill in children with autism, as well as the relationship between working memory and learning rate. Twenty-four children aged 6-8 years with autism were assigned to internal and external attention groups. Participants performed a throwing task while their working memory was assessed using Cornoldi’s working memory test. The data was analyzed using ANOVA with repeated measures involving two attention instructions and five blocks during the acquisition stage. An independent t-test was conducted during the retention phase. Furthermore, a Pearson correlation test was utilized to explore any potential relationship between working memory and performance in both the acquisition and retention stages. Data analysis revealed no significant difference between the internal and external attention groups during the acquisition phase (p > 0.05), but a significant difference was found in the retention phase (p < 0.05). There was no correlation between working memory and learning outcomes (p > 0.05). The results suggest that internal attention may enhance motor learning in children with autism, and reducing working memory load does not necessarily favor external attention.
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20. Roberts CL, Avina AH, Symons FJ. A Qualitative Analysis of Family Caregiver Experiences Accessing Treatment for Self-Injurious Behavior in Individuals with Intellectual and Developmental Disabilities. J Ment Health Res Intellect Disabil;2024;17(4):346-368.
INTRODUCTION: There is evidence of a gap between individuals with intellectual and developmental disabilities (IDD) who need treatment for self-injurious behavior (SIB) and those who receive treatment. The purpose of this study (n=15) was to begin to understand the treatment gap from the perspective of family caregivers. METHODS: In semi-structured virtual interviews, family caregivers discussed their experiences of working with providers to treat their child’s or sibling’s self-injury. Through a systematic process of quasi-inductive thematic analysis, researchers transcribed and analyzed the interviews and developed a working model of treatment pathways. RESULTS: Caregivers described many barriers to treatment access. Themes include Caregiver Driven, Importance of the Provider-Caregiver Relationship, Beliefs and Perceptions about SIB, Practical Constraints, Knowledge Gaps, and Wait Until Crisis. CONCLUSION: The findings highlight the power of providers to support families coping with SIB in IDD. Specific ways providers can better facilitate treatment access are suggested. Future research directions should include provider interviews and focus groups and, ultimately, the development of interventions that consider access pathways as a key feature of any effective treatment plan.
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21. Sherwell CS, Varley D, Kinnane C, Turner W, Zimmerman D, Kirby JN. Examining the Impact of a Brief Compassion Focused Intervention on Everyday Experiences of Compassion in Autistic Adults Through Psychophysiology and Experience Sampling. Appl Psychophysiol Biofeedback;2025 (Jan 3)
Autistic adults experience greater rates of anxiety and depression compared to the general population. Compassion-focused therapy interventions, aimed at promoting self-compassion capabilities, have shown efficacy in improving mental health outcomes in autistic and non-autistic samples suffering from self-criticism that contribute to difficulties in emotion regulation. We explored the experiences of autistic adults during a brief one-week online self-compassion exercise to evaluate it’s feasibility and acceptability through self-report, experience sampling, and parasympathetic activity measured via HRV. Pre- to post-intervention comparisons showed significant improvement in trait self-compassion and fears of self-compassion, but this did not extend to acute measures of psychological distress (depression, anxiety, and stress) nor difficulties in emotion regulation. HRV measures displayed significant increases during self-compassionate practice, although there were no significant changes in physiological reactivity pre- to post-intervention. Experience sampling measures found that whether participants acted on opportunities to be self-compassionate was predictive of concurrent evaluations of affective system activation, whereby acting self-compassionately was associated with greater reported activation of the soothing affective system. Together, our findings support the use of multimodal approaches to investigating the accessibility and efficacy of compassion-focused approaches to resolving emotional difficulties experienced by autistic adults.
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22. Tao X, Croom K, Newman-Tancredi A, Varney M, Razak KA. Acute administration of NLX-101, a Serotonin 1A receptor agonist, improves auditory temporal processing during development in a mouse model of Fragile X Syndrome. J Neurodev Disord;2025 (Jan 3);17(1):1.
BACKGROUND: Fragile X syndrome (FXS) is a leading known genetic cause of intellectual disability and autism spectrum disorders (ASD)-associated behaviors. A consistent and debilitating phenotype of FXS is auditory hypersensitivity that may lead to delayed language and high anxiety. Consistent with findings in FXS human studies, the mouse model of FXS, the Fmr1 knock out (KO) mouse, shows auditory hypersensitivity and temporal processing deficits. In electroencephalograph (EEG) recordings from humans and mice, these deficits manifest as increased N1 amplitudes in event-related potentials (ERP), increased gamma band single trial power (STP) and reduced phase locking to rapid temporal modulations of sound. In our previous study, we found that administration of the selective serotonin-1 A (5-HT(1A))receptor biased agonist, NLX-101, protected Fmr1 KO mice from auditory hypersensitivity-associated seizures. Here we tested the hypothesis that NLX-101 will normalize EEG phenotypes in developing Fmr1 KO mice. METHODS: To test this hypothesis, we examined the effect of NLX-101 on EEG phenotypes in male and female wildtype (WT) and Fmr1 KO mice. Using epidural electrodes, we recorded auditory event related potentials (ERP) and auditory temporal processing with a gap-in-noise auditory steady state response (ASSR) paradigm at two ages, postnatal (P) 21 and 30 days, from both auditory and frontal cortices of awake, freely moving mice, following NLX-101 (at 1.8 mg/kg i.p.) or saline administration. RESULTS: Saline-injected Fmr1 KO mice showed increased N1 amplitudes, increased STP and reduced phase locking to auditory gap-in-noise stimuli versus wild-type mice, reproducing previously published EEG phenotypes. An acute injection of NLX-101 did not alter ERP amplitudes at either P21 or P30, but significantly reduces STP at P30. Inter-trial phase clustering was significantly increased in both age groups with NLX-101, indicating improved temporal processing. The differential effects of serotonin modulation on ERP, background power and temporal processing suggest different developmental mechanisms leading to these phenotypes. CONCLUSIONS: These results suggest that NLX-101 could constitute a promising treatment option for targeting post-synaptic 5-HT(1A) receptors to improve auditory temporal processing, which in turn may improve speech and language function in FXS.
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23. Wang Y, Cao A, Wang J, Bai H, Liu T, Sun C, Li Z, Tang Y, Xu F, Liu S. Abnormalities in cerebellar subregions’ volume and cerebellocerebral structural covariance in autism spectrum disorder. Autism Res;2025 (Jan 3)
The cerebellum plays a crucial role in functions, including sensory-motor coordination, cognition, and emotional processing. Compared to the neocortex, the human cerebellum exhibits a protracted developmental trajectory. This delayed developmental timeline may lead to increased sensitivity of the cerebellum to external influences, potentially extending the vulnerability period for neurological disorders. Abnormal cerebellar development in individuals with autism has been confirmed, and these atypical cerebellar changes may affect the development of the neocortex. However, due to the heterogeneity of autism spectrum disorder (ASD), the regional changes in the cerebellum and cerebellocerebral structural relationship remain unknown. To address these issues, we utilized imaging methods optimized for the cerebellum and cerebrum on 817 individuals aged 5-18 years in the ABIDE II dataset. After FDR correction, significant differences between groups were found in the right crus II/VIIB and vermis VI-VII. Structural covariance analysis revealed enhanced structural covariance in individuals with autism between the cerebellum and parahippocampal gyrus, pars opercularis, and transverse temporal gyrus in the right hemisphere after FDR correction. Furthermore, the structural covariance between the cerebellum and some regions of the cerebrum varied across sexes. A significant increase in structural covariance between the cerebellum and specific subcortical structures was also observed in individuals with ASD. Our study found atypical patterns in the structural covariance between the cerebellum and cerebrum in individuals with autism, which suggested that the underlying pathological processes of ASD might concurrently affect these brain regions. This study provided insight into the potential of cerebellocerebral pathways as therapeutic targets for ASD.
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24. Watson AL, Sutton-Clark G, Prescott S. Nurses Caring for ICU Patients With Intellectual Developmental Disabilities in the United States: An Interpretivist Narrative Analysis Using Western Story Arcs. J Adv Nurs;2025 (Jan 3)
BACKGROUND: Understanding ICU nurses’ experiences in caring for patients with intellectual developmental disabilities is crucial. Insights can inform supportive measures and training programs to enhance nurse well-being and patient population-specific outcomes. OBJECTIVE: The primary objective of this study was to explore and understand the lived experiences of nurses caring for patients with intellectual developmental disabilities. DESIGN: This narrative study employed a research design focusing on ICU nurse storytelling. Registered nurses from ICU settings (n = 49) in the United States participated. Data were collected from January 2024 through April 2024 via semi-structured interviews over an online audiovisual recorded platform. Transcripts were analysed using Christopher Booker’s theory of the seven basic plots (Overcoming the Monster, Rags to Riches, The Quest, Voyage and Return, Comedy, Tragedy, and Rebirth) to identify emerging themes in the data. RESULTS: Story arcs revealed each type of narrative arc apart from comedy, suggesting that ICU nurse experiences of caring for patients with IDD are widely varied and encompass a full range of human expression and experience. Themes spanning these arcs included (1) The Journey of Revisioning ICU Care and (2) Finding Strength to Champion Patient Rights. Findings suggest that ICU nurses consistently experienced the key elements in Finding Strength to Champion Patient Rights but that the key elements of The Journey of Revisioning ICU Care were less widely experienced. CONCLUSION: Tailored support and training programs can enhance nurses’ ability to provide effective care to this patient population. Insights hold practical implications for nursing education, clinical practice, and policy development. RELEVANCE TO CLINICAL PRACTICE: Findings suggest additional training for nurses will benefit patient outcomes and nurse satisfaction. Through exploring unique challenges and emotional burdens faced by nurses, healthcare organisations can develop supportive measures that foster a more caring and effective healing environment. Policy changes can lead to improved patient outcomes, greater nurse satisfaction, and a more inclusive healthcare system that recognises and addresses the needs of vulnerable populations. PATIENT OR PUBLIC CONTRIBUTION: No patient or public contribution. This study focused on the lived experiences of ICU nurses rather than direct patient or public involvement. The research design and data collection were centred on professional narratives from nursing staff, which did not necessitate input from patients or the public for the objectives set forth.
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25. Zahid Z, Ali S, Ayaz Y, Hassan SM, Nawaz R. Protocol for optimizing robot-assisted autism therapy sessions through gaze analysis: A pilot study investigating optimal trial count for children with comorbid autism spectrum disorder and intellectual disability. J Intellect Disabil;2025 (Jan 3):17446295241312053.
BACKGROUND: Autism spectrum disorder poses challenges in social communication and behavior, while Intellectual disabilities are characterized by deficits in cognitive, social, and adaptive skills, frequently accompanied by stereotypies and challenging behaviors. Despite the progress made in autism spectrum disorder research, there is often a lack of research focusing on individuals with co-occurring autism spectrum disorder and intellectual disability. Robot-assisted autism therapies are effective in addressing these needs. However, there is a lack of consensus on the optimal number of therapy sessions required for effective outcomes, particularly in children with comorbid autism and intellectual disability. OBJECTIVES: This study aims to investigate the optimal number of therapy sessions required for effective outcomes in robot-assisted autism therapy, specifically focusing on children with comorbid autism and intellectual disability. Gaze analysis metrics, including the average number of eye contact and average inter-eye contact delay, are utilized to assess therapy effectiveness. METHODS: This study integrates gaze analysis focusing on the average number of eye contact and average inter-eye contact delay as performance metrics. A pilot investigation was conducted to explore the critical temporal window for optimal trial count in robot-assisted autism therapy for children with autism. A mathematical model was introduced and validated for eight children with autism spectrum disorder, encompassing 56 experiments conducted over 7 weeks (one trial per week). Robots presented 8 cues in 3 categories (visual, speech, motion) with 16 cues per trial. RESULTS AND CONCLUSIONS: The results, validated using single-sample Wilcoxon signed-rank tests, revealed that the unsaturated state, with a median score of 3.44, exhibited significantly lower average inter-eye contact delay (p-value = 0.014, r = 0.86) and significantly higher average number of eye contact (p-value = 0.014, r = 0.87) compared to the hypothesized medians. These findings suggest that the unsaturated state occurring in the critical temporal window has significantly higher average number of eye contact and lower average inter-eye contact delay compared to the saturated state. This study underscores the importance of tailored and targeted interventions for children with autism spectrum disorder, facilitating the development of cost-effective, time-efficient, evidence-based treatments.