Autism Spectrum Disorder Children Research Articles

Autism spectrum disorder common variants associated with regional lobe volume variations at birth: cross-sectional study in 273 European term neonates in developing human connectome project

Abstract Increasing lines of evidence suggest cerebral overgrowth in autism spectrum disorder (ASD) children in early life, but few studies have examined the effect of ASD common genetic variants on brain volumes in a general paediatric population. This study examined the association between ASD polygenic risk score (PRS) and volumes of the frontal, temporal, parietal, occipital, fronto-temporal and parieto-occipital lobes in 273 term-born infants of European ancestry in the developing Human Connectome Project. ASD PRS was positively associated with frontal (β = 0.027, p FDR = 0.04) and fronto-temporal (β = 0.024, p FDR = 0.01) volumes, but negatively with parietal (β = −0.037, p FDR = 0.04) and parieto-occipital (β = −0.033, p FDR = 0.01) volumes. This preliminary result suggests the potential involvement of ASD common genetic variants in early structural variations linked to ASD.

A Technology-Based Intervention for Enhancing Cognitive Flexibility in Children with Autism Spectrum Disorder

<span id="docs-internal-guid-ef8b71bf-7fff-43c3-ae2f-e025b176c9ee"><span>Cognitive flexibility is the most impaired executive function among children with autism spectrum disorder (ASD). Technology-mediated executive function training has several benefits for children with neurodevelopmental disorders. The aim of our study was to test the effectiveness of a digital intervention program to reduce errors in cognitive flexibility tasks in children ASD. To achieve our goal, we conducted a single-case experiment involving 3 participants with ASD aged between 9 and 14 years old. We used single-case experiment with alternative treatments to see if there are differences in cognitive flexibility when training was with or without technological tools. Based on the results, there was a decrease in the number of errors in both the technology-free and technology-based interventions, with no significant evidence of one intervention being more effective than the other. Future studies should include larger samples and increased number of intervention sessions. </span></span>

The value of hippocampal sub-region imaging features for the diagnosis and severity grading of ASD in children

BackgroundHippocampal structural changes in Autism Spectrum Disorder (ASD) are inconsistent. This study investigates hippocampal subregion changes in ASD patients to reveal intrinsic hippocampal anomalies. MethodsA retrospective study from Hainan Children’s Hospital database (2020–2023) included ASD patients and matched controls. We classified ASD participants based on severity, dividing all subjects into four groups: normal, mild, moderate, and severe. High-resolution T1-weighted MRI images were analyzed for hippocampal subregion segmentation and volume calculations using Freesurfer. Texture features were extracted via the Gray-Level Co-occurrence Matrix. The Receiver Operating Characteristic curve was used to evaluate seven random forest predictive models constructed from volume, subregion, and texture features, as well as their combinations following feature selection. ResultsThe study included 114 ASD patients (98 boys, 2–8 years; 16 girls, 2–6 years; 17 mild, 57 moderate, 40 severe) and 111 healthy controls (HCs). No significant differences in volumes were found between ASD patients and HCs (adjusted P-value >0.05). The seven random forest models showed that single volume and texture features performed poorly for ASD classification; however, integrating various feature types improved AUC values. Further selection of texture, subregion, and volume features enhanced AUC performance across normal and varying severity categories, demonstrating the potential value of specific subregions and integrated features in ASD diagnosis. ConclusionRandom forest models revealed that hippocampal volume, texture features, and subregion characteristics are crucial for diagnosing and assessing the severity of ASD. Integrating selected texture and subregion features optimized diagnostic efficacy, while combining texture, subregion, and volume features further improved severity grading effectiveness.

Altered Monocyte Populations and Activation Marker Expression in Children with Autism and Co-Occurring Gastrointestinal Symptoms

Autism spectrum disorder (ASD) is an early-onset neurodevelopmental condition that now impacts 1 in 36 children in the United States and is characterized by deficits in social communication, repetitive behaviors, and restricted interests. Children with ASD also frequently experience co-morbidities including anxiety and ADHD, and up to 80% experience gastrointestinal (GI) symptoms such as constipation, diarrhea, and/or abdominal pain. Systemic immune activation and dysregulation, including increased pro-inflammatory cytokines, are frequently observed in ASD. Evidence has shown that the innate immune system may be impacted in ASD, as altered monocyte gene expression profiles and cytokine responses to pattern recognition ligands have been observed compared to typically developing (TD) children. In humans, circulating monocytes are often categorized into three subpopulations—classical, transitional (or “intermediate”), and nonclassical monocytes, which can vary in functions, including archetypal inflammatory and/or reparative functions, as well as their effector locations. The potential for monocytes to contribute to immune dysregulation in ASD and its comorbidities has so far not been extensively studied. This study aims to determine whether these monocyte subsets differ in frequency in children with ASD and if the presence of GI symptoms alters subset distribution, as has been seen for T cell subsets. Whole blood from ASD children with (ASD+GI+) and without gastrointestinal symptoms (ASD+GI−) and their TD counterparts was collected from children enrolled in the Childhood Autism Risk from Genetics and Environment (CHARGE) study. Peripheral blood mononuclear cells were isolated and stained for commonly used subset identifiers CD14 and CD16 as well as activation state markers CCR2, HLA-DR, PD-1, and PD-L1 for flow cytometry analysis. We identified changes in monocyte subpopulations and their expression of surface markers in children with ASD compared to TD children. These differences in ASD appear to be dependent on the presence or absence of GI symptoms. We found that the ASD+GI+ group have a different monocyte composition, evident in their classical, transitional, and nonclassical populations, compared to the ASD+GI− and TD groups. Both the ASD+GI+ and ASD+GI− groups exhibited greater frequencies of classical monocytes compared to the TD group. However, the ASD+GI+ group demonstrated lower frequencies of transitional and nonclassical monocytes than their ASD+GI− and TD counterparts. CCR2+ classical monocyte frequencies were highest in the ASD+GI− group. HLA-DR+ classical, transitional, and nonclassical monocytes were statistically comparable between groups, however, HLA-DR− nonclassical monocyte frequencies were lower in both ASD groups compared to TD. The frequency of classical monocytes displaying exhaustion markers PD-1 and PD-L1 were increased in the ASD+GI+ group compared to ASD+GI− and TD, suggesting potentially impaired ability for clearance of foreign pathogens or debris, typically associated with worsened inflammation. Taken together, the findings of differential proportions of the monocyte subpopulations and altered surface markers may explain some of the characteristics of immune dysregulation, such as in the gastrointestinal tract, observed in ASD.

Acetaminophen in Pregnancy and Attention-Deficit and Hyperactivity Disorder and Autism Spectrum Disorder.

Acetaminophen is a common over-the-counter medication that recently gained substantial media attention regarding its use by pregnant individuals. In this clinical perspective, we discuss the strengths and limitations of the published literature on the effect of maternal acetaminophen use in pregnancy on the child's risk of developing attention-deficit and hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). Studies included were specifically selected on the basis of the quality and validity of ADHD or ASD outcome definitions. From a total of 56 identified studies, commentaries, and editorials of relevance, we critically reviewed nine studies with original data that satisfied our inclusion criteria and three meta-analyses. Most studies that have reported positive findings are difficult to interpret because they have important biases, notably a high degree of selection bias, variability in selection and adjustment for various potential confounders, and unmeasured familial confounding. When unobserved familial confounding through sibling analysis was controlled for, associations weakened substantially. This suggests that residual confounding from shared genetic and environmental factors may have caused an upward bias in the original observations. According to the current scientific evidence, in utero exposure to acetaminophen is unlikely to confer a clinically important increased risk of childhood ADHD or ASD. The current level of evidence does not warrant changes to clinical guidelines on the treatment of fever or pain in pregnancy. Prospective research designed to account for familial and psychosocial environmental factors related to both maternal use of acetaminophen and children's neurodevelopment should be undertaken.

Five-year-old children with autism spectrum disorders struggle with disengaging attention.

It is known that individuals with autism spectrum disorders (ASD) exhibit impairments in shifting attention. However, previous studies have primarily focused on school-aged children and adults with ASD. It remains unclear whether attentional shifting impairments emerge at an early age. Additionally, it is uncertain which specific process-engagement or disengagement-is affected in individuals with ASD. This study investigated the time course of attentional shifting in preschool-aged children with ASD using a Posner cue-target paradigm. The cue-target onset asynchrony was systematically manipulated to reveal both the early facilitation effect of attentional capture (i.e., engagement) and the later inhibitory aftereffect, commonly referred to as inhibition of return (IOR). Results showed an early facilitation effect in both ASD and typically developing (TD) children, indicating that ASD children engaged attention to salient spatial locations. In contrast to TD children, no reliable IOR effect was observed in ASD children, suggesting difficulties in disengaging attention. These findings indicate a selective impairment in attentional disengagement among preschool-aged children with ASD and support the need for early intervention programs focusing on attentional shifting.

Associations Between Mental Disorders, Personality Disorders, and Filicide-Suicide and Parental Suicide: A Nationwide Cohort Study.

Filicide-suicide represents a critical intersection of psychiatric and familial crises, yet the literature remains scant on differentiated risk profiles among family members. This study addresses a gap in understanding the specific mental health correlates of filicide-suicide, especially within a comprehensive family context, distinct from traditional parental or child-focused perspectives. This study used the Taiwan National Health Insurance Research Database to identify a nationally representative sample of families from 2004 to 2020, with continuous monitoring extending into 2021. Families were classified into those affected by filicide-suicide, parental suicide, and those without such incidents. Multinomial logistic regression was conducted to explore the association between family status and mental health. Analyses of effect modification were conducted to evaluate whether low-income status modified these relationships. The study encompassed 1,898,299 families, revealing that filicide-suicide is notably rare, with an incidence of 1.64 deaths per 100,000 newborn children from 2004 to 2020, with an increasing trend observed after 2014. Fathers and children in filicide-suicide families had the highest prevalence of mental disorders, followed by those in parental-suicide families and then other families (those where no child has been recorded as a homicide victim and no parent has committed suicide). There was a tendency for stronger associations between filicide-suicide families and paternal schizophrenia as well as autistic spectrum disorder in children among low-income families. The findings underscore the profound impact of severe mental disorders within the familial framework, emphasizing the need for an integrated approach to mental health care that considers the familial context in order to better predict and prevent such devastating events.

Clinical Spectrum and Associated Features of Autism Spectrum Disorders: Experience in A Tertiary Level Hospital

Background: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder with a heterogeneous and complex presentation of clinical symptoms related to social communicative and interactive behavior. Thus, the aim was to evaluate the clinical features and associated condition of autism spectrum disorder in Bangladeshi children. Method: A cross-sectional study was done in Out-patient department of Paediatric Neurology, Bangabandhu Sheikh Mujib Medical University, Dhaka from January 2023 to June 2023 Children age 3 to 10 years who satisfied the inclusion and exclusion criteria and met the diagnostic criteria (DSM-V) of ASD were enrolled in this study. In all confirmed cases, clinical features and co-occurring condition were evaluated. Data was collected by a structured questionnaire supplied by department of Pediatric Neurology. Informed written consent was taken from all legal guardians. Results: A total of 75 children of 3-10 years were included. Mean age was 4.27±1.99 with male predominance. Among the associated features; pointing, social interaction, response to call and eye contact were absent in 94.67 %, 97.33%, 92% and 86.67% cases respectively. In this study more than three fourth of studied children were presented with speech delay (80%) and more than half of the children presented with speech regression. ADHD (46.67%), bruxism (25.33%) constipation (22.67%), epilepsy (5.33%), febrile seizure (9.33%) and gratification syndrome (12%) were mostly observed in ASD children. Conclusion: In our study, more than one-third of studied children had ADHD and sleep disturbance followed by bruxism, epilepsy, febrile seizure, gratification syndrome and constipation as other associated features. J Bangladesh Coll Phys Surg 2025; 43: 53-58

Telomere Length and Oxidative Damage in Children and Adolescents with Autism Spectrum Disorder: A Systematic Review and Meta-Analysis.

Autism spectrum disorder (ASD) has been reported to confer an increased risk of natural premature death. Telomere erosion caused by oxidative stress is a common consequence in age-related diseases. However, whether telomere length (TL) and oxidative indicators are significantly changed in ASD patients compared with controls remains controversial. The aim of this study was to determine the associations of ASD with TL and oxidative indicators by performing a meta-analysis of all published evidence. The PubMed and Embase databases were searched for articles published up to April, 2024. The effect size was expressed as standardized mean difference (SMD) and 95% confidence interval (CI) via Stata 15.0 software. Thirty-nine studies were included. Pooled results showed that compared with controls, children and adolescents with ASD were associated with significantly shorter TL (SMD = -0.48; 95% CI = -0.66- -0.29; p < 0.001; particularly in males), lower total antioxidant capacity (TAC: SMD = -1.15; 95% CI = -2.01- -0.30; p = 0.008), and higher oxidative DNA (8-hydroxy-2'-deoxyguanosine, 8-OHdG: SMD = 0.63; 95% CI = 0.03-1.23; p = 0.039), lipid (hexanolyl-lysine, HEL: SMD = 0.37; 95% CI = 0.13-0.62; p = 0.003), and protein (3-nitrotyrosine, 3-NT: SMD = 0.86; 95% CI = 0.21-1.51; p = 0.01; dityrosine, DT: SMD = 0.66; 95% CI = 0.521-0.80; p < 0.01) damage. There were no significant differences between ASD and controls in 8-isoprostane and oxidative stress index after publication bias correction, and in N-formylkynurenine during overall meta-analysis. TL, 8-OHdG, TAC, HEL, 3-NT, and DT represent potential biomarkers for prediction of ASD in children and adolescents.

Diagnostic Value of Serum miR-499a-5p in Chinese Children with Autism Spectrum Disorders.

The purpose of this study was to investigate the expression of miR-499a-5p in children with autism spectrum disorders (ASD) and its value in early diagnosis of ASD. This is a retrospective case-control study that included 40 children with ASD as a case group and 43 healthy children as a control group. Magnetic resonance imaging (MRI) was performed on all subjects, and the children were scored with childhood autism rating scale (CARS) and autism behavior checklist (ABC). The expression of miR-499a-5p in serum was detected by RT-qPCR, and the diagnostic value of miR-499a-5p in ASD was evaluated by ROC curve. Pearson correlation coefficient was used to evaluate the correlation between miR-499a-5p levels and scores. Compared with healthy children, the expression level of serum miR-499a-5p was significantly reduced in children with ASD. ROC curve showed that miR-499a-5p is of high diagnostic value for ASD. The results of MRI suggested that the volume of the amygdala in ASD children was significantly larger than that in healthy children, while the volume of the caudate nucleus was significantly reduced. Correlation results showed that the scores of CARS and ABC in the ASD group were significantly negatively correlated with the levels of miR-499a-5p. In the ASD group, the volume of the amygdala was negatively correlated with the level of miR-499a-5p, while the volume of the caudate nucleus was positively correlated with the level of miR-499a-5p. The decreased expression of miR-499a-5p in the serum of children with ASD was significantly related to the changes in brain volume of children with ASD, and the miRNA showed good diagnostic accuracy in children with ASD.

Alterations of triple network dynamic connectivity and repetitive behaviors after mini-basketball training program in children with autism spectrum disorder

Physical exercise has been demonstrated to effectively mitigate repetitive behaviors in children with autism spectrum disorder (ASD), but the underlying dynamic brain network mechanisms are poorly understood. The triple network model consists of three brain networks that jointly regulate cognitive and emotional processes and is considered to be the core network underlying the aberrant manifestations of ASD. This study investigated whether a mini-basketball training program (MBTP) could alter repetitive behaviors and the dynamic connectivity of the triple network. 28 male children with ASD were scanned twice with resting-state functional MRI and assessed for repetitive behaviors using the repetitive behavior scale (RBS-R). 15 children in the exercise group participated in a 12-week MBTP, while 13 in the control group maintained their regular routines. The feature of Dynamic independent component analysis (dyn-ICA) is its ability to capture the rate of change in connectivity between brain regions. In this study, it was specifically employed to examine the triple network dynamic connectivity in both groups. Compared to the control group, the exercise group exhibited distinct dynamic connectivity patterns in two networks: Network 1 involved cross-network dynamic connectivity changes within the triple network, and Network 2 pertained to dynamic connectivity alterations within the default mode network. Furthermore, a reduction in the RBS-R Total score was observed in the exercise group, reflecting improvements in self-injurious behavior and restricted behavior. Correlation analysis revealed that the amelioration of repetitive behaviors was associated with enhanced dynamic connectivity in parts of the triple network. These findings suggest that MBTP can improve repetitive behaviors in ASD children and is linked to changes in triple network dynamic connectivity.

Characterization of gut microbiota on gender and age groups bias in Thai patients with autism spectrum disorder

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social communication and interaction problems. The prevalence of ASD is increasing globally, with a higher ratio of males to females. Gastrointestinal symptoms are common in individuals with ASD, and gut microbiota has been implicated in the disorder’s development. This study aimed to investigate the gut microbiota alteration in Thai individuals with ASD compared to healthy controls using 16S rRNA gene sequencing. The influence of gender and age on gut microbiota composition and function was also examined. A total of 65 ASD individuals and 30 neurotypical (NT) individuals were included in the analysis. The results revealed notable differences in gut microbiota composition between the ASD and NT groups, with variations observed in microbial richness and the presence of enriched microbial taxa. These differences were influenced by both gender and age. Fusobacteriota, Fusobacteriaceae, and Fusobacterium were found to be enriched in individuals with ASD. Furthermore, the study identified gender-related taxa, such as Bacteroides plebeius, enriched in ASD females. Age-related taxa, including Veillonella, known to be associated with poor oral hygiene, were also observed in ASD children. The analysis of differentially abundant pathways highlighted the enrichment of various metabolic pathways in individuals with ASD, including those related to endocrine-disrupting chemicals. These findings underscore the importance of considering gender and age when studying gut microbiota in ASD. They provide valuable insights into the potential role of gut microbiota dysbiosis in ASD pathogenesis and highlight the influence of environmental factors.

A case study on the narrative skills of a high-functioning autism spectrum disorders child

A case study on the narrative skills of a high-functioning autism spectrum disorders child

The association between preterm delivery and autism spectrum disorder in childhood: A retrospective cohort study.

Prematurity complications are a leading cause of mortality and morbidity in offspring, including adverse neurodevelopmental outcomes. The association between preterm birth (PTB) and autism spectrum disorder (ASD) remains debated. To investigate the association between PTB and ASD diagnosis during childhood. This cohort study analyzed data from community clinics and a tertiary hospital, encompassing deliveries from 2005 to 2017. ASD incidence was compared across gestational age categories: extremely preterm (<28 weeks), very preterm (28-32 weeks), moderate to late preterm (32-37 weeks), and term (≥37 weeks). Additional comparisons were made between all preterm (<37 weeks) and term deliveries (≥37 weeks). Cumulative ASD incidence was assessed using Kaplan-Meier survival curves and a Cox proportional hazards model adjusted for potential confounders. Among 114 975 pregnancies, 0.3% delivered at <28 weeks, 0.6% at 28-32 weeks, and 6% at 32-37 weeks, with 6.9% preterm deliveries overall. Univariable analysis revealed a significant association between PTB and ASD (1.6% for <28 weeks vs 0.3% for 28-32 weeks vs 0.8% for 32-37 weeks vs 0.7% for term, P = 0.036). Crude ASD incidence was 0.8% (odds ratio [OR] 1.21, 95% confidence interval [CI] 0.93-1.56, P = 0.15). However, adjusted results showed no significant association: adjusted hazard ratio = 0.74 (95% CI 0.24-2.34, P = 0.61) for <28 weeks, 0.99 (95% CI 0.24-3.99, P = 0.98) for 28-32 weeks, and 1.07 (95% CI 0.81-1.43, P = 0.63) for 32-37 weeks. Kaplan-Meier analysis showed similar cumulative ASD incidence across groups (P = 0.855). This retrospective cohort study found no significant association between PTB and childhood ASD diagnosis.

Reliably quantifying the severity of social symptoms in children with autism using ASDSpeech

Several studies have demonstrated that the severity of social communication problems, a core symptom of Autism Spectrum Disorder (ASD), is correlated with specific speech characteristics of ASD individuals. This suggests that it may be possible to develop speech analysis algorithms that can quantify ASD symptom severity from speech recordings in a direct and objective manner. Here we demonstrate the utility of a new open-source AI algorithm, ASDSpeech, which can analyze speech recordings of ASD children and reliably quantify their social communication difficulties across multiple developmental timepoints. The algorithm was trained and tested on the largest ASD speech dataset available to date, which contained 99,193 vocalizations from 197 ASD children recorded in 258 Autism Diagnostic Observation Schedule, Second edition (ADOS-2) assessments. ASDSpeech was trained with acoustic and conversational features extracted from the speech recordings of 136 children, who participated in a single ADOS-2 assessment, and tested with independent recordings of 61 additional children who completed two ADOS-2 assessments, separated by 1–2 years. Estimated total ADOS-2 scores in the test set were significantly correlated with actual scores when examining either the first (r(59) = 0.544, P < 0.0001) or second (r(59) = 0.605, P < 0.0001) assessment. Separate estimation of social communication and restricted and repetitive behavior symptoms revealed that ASDSpeech was particularly accurate at estimating social communication symptoms (i.e., ADOS-2 social affect scores). These results demonstrate the potential utility of ASDSpeech for enhancing basic and clinical ASD research as well as clinical management. We openly share both algorithm and speech feature dataset for use and further development by the community.

Rightward brain structural asymmetry in young children with autism.

To understand the neural mechanism of autism spectrum disorder (ASD) and developmental delay/intellectual disability (DD/ID) that can be associated with ASD, it is important to investigate individuals at an early stage with brain, behavioural and also genetic measures, but such research is still lacking. Here, using the cross-sectional sMRI data of 1030 children under 8 years old, we employed developmental normative models to investigate the atypical development of gray matter volume (GMV) asymmetry in individuals with ASD without DD/ID, ASD with DD/ID and individuals with only DD/ID, and their associations with behavioral and clinical measures and transcription profiles. By extracting the individual deviations of patients from the typical controls with normative models, we found a commonly abnormal pattern of GMV asymmetry across all ASD children: more rightward laterality in the inferior parietal lobe and precentral gyrus, and higher individual variability in the temporal pole. Specifically, ASD with DD/ID children showed a severer and more extensive abnormal pattern in GMV asymmetry deviation values, which was linked with both ASD symptoms and verbal IQ. The abnormal pattern of ASD without DD/ID children showed higher and more extensive individual variability, which was linked with ASD symptoms only. DD/ID children showed no significant differences from healthy population in asymmetry. Lastly, the GMV laterality patterns of all patient groups were significantly associated with both shared and unique gene expression profiles. Our findings provide evidence for rightward GMV asymmetry of some cortical regions in young ASD children (1-7 years) in a large sample (1030 cases), show that these asymmetries are related to ASD symptoms, and identify genes that are significantly associated with these differences.

Amino Acid Patterns in Children with Autistic Spectrum Disorder: A Preliminary Biochemical Evaluation.

The metabolism of plasma amino acid (AA) in children with autism spectrum disorder (ASD) has been extensively investigated, yielding inconclusive results. This study aims to characterize the metabolic alterations in AA profiles among early-diagnosed children with ASD and compare the findings with those from non-ASD children. We analyzed plasma AA profiles, measured by ion exchange chromatography, from 1242 ASD children (median age = 4 years; 81% male). Additionally, we studied AA profiles from 488 children, matched for age and free of ASD (control group). Principal component and cluster analysis were employed to explore potential associations within the ASD group and to identify subgroups. We observed lower plasma levels of glutamine in children with ASD compared to non-ASD children (p < 0.001). Six essential, two conditionally essential, and four non-essential AA were found to be increased in children with ASD. The clustering analysis revealed two groups, labeled Neurological (NEU) and Nutritional (NUT), which included a majority of ASD children (94% and 78%, respectively). The NEU group exhibited high levels of taurine, aspartate, glutamic acid, and ornithine, while the NUT group showed elevated levels of branched-chain AA. In children with ASD, we identified some heterogeneous AA patterns that may serve as biochemical signatures of neurological impairment in some individuals, while in others they may indicate nutritional dysregulation.

Unveiling the impact of neurodevelopmental disabilities on intra family dynamics: A phenomenological exploration.

Objective: To explore perceived intrafamily challenges and experiences of having a child with neurodevelopmental disabilities and provide a multifacet impact of having NDD on three familial subsystems: Parental, Spousal and Sibling subsystem. Study Design: Descriptive Exploratory Phenomenological Design was utilized. Setting: The Children’s Hospital &amp; Institute of Child Health, Lahore. Period: September 2022 to January 2023. Methods: Qualitative research method was used in current study. Sample X three families having a child diagnosed with NDD were included. Purposive sampling was used, with the inclusion of all members of the families. Families having only one child with NDD were included in the study. Results: Thematic analysis found two superordinate themes i.e. family role and societal factors, with five major themes i.e. father, mother and sister factors, coping strategies and family support. Conclusion: Families having autism spectrum disorder children had relatively more stress than families of having children with other developmental disabilities. Mothers were reported to face more emotional reactions than fathers. Spirituality and spouse support was considered the most effective coping by mothers. Siblings faced mixed feelings in the presence of a child having NDD. Society needs awareness, acceptance, and sensitivity towards these families. More rehabilitation and treatment services need to be developed in Pakistan.

Exploring Social Support and Quality of Life Among Mothers of Children with Autism Spectrum Disorders: A Cross-Sectional Study.

Background: Mothers of children with autism spectrum disorder (ASD) often experience significant stress, which can adversely affect their quality of life (QoL) and increase their reliance on social support. This study aimed to explore the relationship between social support and QoL among mothers of ASD children and identify associated factors. Methods: A cross-sectional study was conducted from December 2022 to March 2023, involving 218 mothers of ASD children in Saudi Arabia. An online questionnaire was distributed via autism associations. Inclusion criteria were mothers of children under 18 diagnosed with ASD, excluding those with diagnosed mental illnesses. Social support and QoL were measured using the Multidimensional Scale of Perceived Social Support (MSPSS) and the Quality of Life in Autism Questionnaire (QoLA). Statistical analysis was performed using Jamovi software. Results: The mean MSPSS and QoLA scores were 4.87 and 100.88, respectively, with a significant positive correlation (Spearman's rho = 0.509, p < 0.001). Social support was positively associated with higher education and negatively with having more than one autistic child. QoLA scores were significantly predicted by family income (>SAR 10,000 or US 2667) and MSPSS score (p < 0.001). Conclusions: Social support enhances maternal QoL and is influenced by educational level and income, highlighting the need for targeted interventions to support mothers with multiple ASD children. While individual support is important, prioritizing societal accessibility may offer more effective long-term solutions by proactively addressing systemic challenges faced by autistic individuals and their families.

Early detection of autism spectrum disorder: gait deviations and machine learning.

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder diagnosed by clinicians and experts through questionnaires, observations, and interviews. Current diagnostic practices focus on social and communication impairments, which often emerge later in life. This delay in detection results in missed opportunities for early intervention. Gait, a motor behavior, has been previously shown to be aberrant in children with ASD and may be a biomarker for early detection and diagnosis of ASD. The current study assessed gait in children with ASD using a single RGB camera-based pose estimation method by MediaPipe (MP). Data from 32 children with ASD and 29 typically developing (TD) children were collected. The ASD group exhibited significantly reduced step length and right elbow° and increased right shoulder° relative to TD children. Four machine learning (ML) algorithms were employed to classify the ASD and TD children based on the statistically significant gait parameters. The binomial logistic regression (Logit) performed the best, with an accuracy of 0.82, in classifying the ASD and TD children. The present study demonstrates the use of gait analysis and ML techniques for the early detection of ASD.