Autism Spectrum Disorder Children Research Articles

Adaptive and Behavioral Profiles in Down Syndrome and Co-Occurring Autism Spectrum Disorder: A Case-Control Study.

Down syndrome (DS) is the most frequent genetic cause of intellectual disability (ID). Individuals with DS exhibit an elevated risk of other neurodevelopmental disorders, including autism spectrum disorder (ASD). The primary objective of this study was to explore the clinical characteristics of co-occurring ASD in children and adolescents with DS using a case-control approach. We compared the adaptive and behavioral profiles of a group of participants with both DS and ASD (ASD group) with a group of participants with DS-only matched by age, sex, and IQ (CON group). Participants in the ASD group exhibited significantly lower adaptive skills than the CON group, despite the IQ-matching in the moderate/severe ID range. No group differences emerged on internalizing or externalizing behavioral symptoms, but participants in the ASD group exhibited significantly higher social withdrawal, stereotyped behavior, and restricted interests. These findings indicate that, although children with DS-with or without ASD-who have similar low cognitive functioning often exhibit common behavioral traits, paying close attention to the elevation of stereotyped behaviors or restricted interests can improve the detection of co-occurring ASD in this population, enabling more personalized interventions. Conversely, the presence of ritualistic behaviors or behaviors related to insistence on sameness may not be a strong indicator of underlying ASD in children with DS. Additionally, acknowledging that the presence of ASD contributes to adaptive behavior deficits beyond the impact of moderate-to-severe ID alone highlights the critical need for early interventions to enhance daily living skills in this population.

Broad Autism Phenotype Questionnaire - Translation and Validation in a South Indian Language.

Broad Autism Phenotype (BAP) refers to specific behaviors or minor deficits in social/communication skills not meeting the diagnostic criteria for autism spectrum disorders (ASDs). The BAP Questionnaire (BAPQ) measures aloof personality (AP), rigid personality (RP), and pragmatic language (PL) deficits of BAP. The study objective is to translate and validate BAPQ into Malayalam, a South Indian language, and to establish new cut-off scores for detecting BAP in the Indian population. BAPQ was translated into Malayalam (BAPQ-M), following which it was tested for reliability and internal consistency and factor analysis was conducted in 40 parents of ASD and neurotypical children. The receiver operating characteristic curve analysis generated new cut-off scores. The content validity index was ≥ 0.8 for each item. For the self and informant versions, Cronbach's α was 0.753 and 0.807, respectively, while Spearman's correlation coefficient was 0.953 (P < 0.001) and 0.918 (P < 0.001). The items demonstrated good communality (0.532-0.870), and on factor rotation, 12 components had eigenvalues > 1, which explained 72.3% of the total variance. The new cut-off scores for total estimate, AP, RP, and PL subscales were 2.60 (sensitivity 0.825; specificity 0.575; odds ratio [OR] 6.38, 95% confidence interval [CI] 2.28-17.84; P < 0.001), 2.60 (sensitivity 0.60; specificity 0.75; OR 4.50, 95% CI 1.73-11.70; P 0.002), 2.90 (sensitivity 0.8; specificity 0.475; OR 3.62, 95% CI 1.342-9.77; P 0.011), and 2.70 (sensitivity 0.5; specificity 0.825; OR 4.71, 95% CI 1.69-13.13; P 0.003), respectively. BAPQ-M has good psychometric properties for determining the presence of BAP among the people of Kerala, a South Indian state.

Porphyrinuria in Autism Spectrum Disorder: A Review.

Numerous studies demonstrated that the number of children with autism spectrum disorder (ASD) has increased remarkably in the past decade. A portion of ASD etiology, however, is attributed to environmental issues and genetic disorders. We highlighted a scoping review to principally evaluate the current information on mercury exposure in ASD children and to reveal knowledge gaps. Elevated porphyrins concentration in the urinary system related to mercury exposure, such as precoproporphyrin (prcP), coproporphyrin (cP), and pentacarboxyporphyrin (5cxP), was shown in comparison with controls. Moreover, high levels of urinary porphyrins have been elevated in response to heavy metal exposure. The related pattern (increased prcP, cP, and 5cxP) with Hg exposure may be used as biomarkers in the characteristics of ASD symptoms. However, this review highlighted the data gaps because the control groups were not genderand age-matched for ASD children.

Early- and Late-Stage Auditory Processing of Speech Versus Non-Speech Sounds in Children With Autism Spectrum Disorder: An ERP and Oscillatory Activity Study.

Individuals with autism spectrum disorder (ASD) often exhibit greater sensitivity to non-speech sounds, reduced sensitivity to speech, and increased variability in cortical activity during auditory speech processing. We assessed differences in cortical responses and variability in early and later processing stages of auditory speech versus non-speech sounds in typically developing (TD) children and children with ASD. Twenty-eight 4- to 9-year-old children (14 ASDs) listened to speech and non-speech sounds during an electroencephalography session. We measured peak amplitudes for early (P2) and later (P3a) stages of auditory processing and inter-trial theta phase coherence as a marker of cortical variability. TD children were more sensitive to speech sounds during early and later processing stages than ASD children, reflected in larger P2 and P3a amplitudes. Individually, twice as many TD children showed reliable differentiation between speech and non-speech sounds compared to children with ASD. Children with ASD showed greater intra-individual variability in theta responses to speech sounds during early and later processing stages. Children with ASD show atypical auditory processing of fundamental speech sounds, perhaps due to reduced and more variable cortical activation. These atypicalities in the consistency of cortical responses to fundamental speech features may impact the development of cortical networks and have downstream effects on more complex forms of language processing.

Professionally and non-professionally applied household insecticides during pregnancy and early life and their associations with autism spectrum disorder and developmental delay in the CHARGE case-control study.

Autism Spectrum Disorder (ASD) is an increasing concern globally, with risks attributed to both genetic and environmental factors, including pesticide exposures. The CHARGE case-control study collected data to examine the relationship between household insecticide use and ASD or developmental delay (DD). Participants (n=1,526) aged 2 to 5 years from the CHARGE study encompassed children with clinically confirmed ASD (n = 810), DD (n = 186), and typically developing controls (n = 530) frequency matched to ASD children by age, sex, and geographic region. Household insecticide use was determined from parent interviews, as were the timing, frequency, and type of applications (professionally or non-professionally applied; indoor, outdoor, and flea applications) from three months pre-conception to the child's second birthday. Logistic regression models were adjusted for confounders to estimate odds ratios (OR) for ASD or DD associated with insecticide exposure. Professionally applied indoor insecticides were associated with greater than two-fold increased odds of ASD for all time periods (OR: pre-pregnancy, 2.62 (1.26, 5.44); pregnancy, 2.52 (1.41, 4.48); year 1, 2.20 (1.33, 3.64); year 2, 2.13 (1.29, 3.49)). Odds were also elevated for any outdoor application during years 1 and 2 (OR: 1.37 (1.05, 1.79) and 1.34 (1.03, 1.74), respectively), however, significance did not hold after false discovery rate correction. Higher exposure frequency was associated with greater odds of ASD for nearly all application types and time periods. Non-professional indoor insecticide use was associated with increased odds of DD in trimester 3 and the pregnancy period (OR: 1.72 (1.03, 2.89) and 1.58 (1.03, 2.40), respectively). Professionally applied indoor insecticides were consistently associated with ASD. The strong trend of increased odds with more frequent exposures, additional evidence for DD, and widespread use of household insecticides support increased regulatory scrutiny and public health interventions to minimize exposure during critical developmental windows.

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.

Analysis of mitochondrial DNA replisome in autism spectrum disorder: Exploring the role of replisome genes.

Autism spectrum disorder (ASD) is a neurodevelopmental condition often associated with mitochondrial dysfunction, including increased mitochondrial DNA (mtDNA) copy number and impaired energy production. This study investigates the role of the mitochondrial replisome-specifically, the genes TFAM, TWNK, POLG, and TOP1MT-in mtDNA replication and its potential contribution to ASD pathophysiology. We analyzed samples from the oral mucosa of children with ASD and typically developing (TD) controls, assessing mtDNA copy number, gene expression, and protein levels. Our findings revealed a significant increase in mtDNA copy number in the oral mucosa of ASD children, along with partially deleted mtDNA molecules. However, there were no significant changes in the expression of TFAM, TWNK, POLG, or MT-TL1 genes between ASD and TD samples. Additionally, TFAM protein levels, including monomeric, dimeric, and trimeric forms, did not differ significantly. We also observed increased oxidative stress and inflammatory markers in the oral mucosa of ASD children, suggesting that mitochondrial alterations may be linked to inflammation and oxidative damage in ASD. To further investigate the functional impact of TFAM, we overexpressed it in human HEK293 cells and cortical neurons (CN1.4). TFAM overexpression led to increased mtDNA copy number, cell proliferation, and ATP production in HEK293 cells, but did not significantly alter mitochondrial gene expression, protein oxidation, or mtDNA integrity. In CN1.4 neurons, TFAM overexpression increased mitochondrial membrane potential and length, indicating potential changes in mitochondrial dynamics. Overall, our study suggests that while mtDNA alterations are present in ASD, they are not directly driven by changes in mitochondrial replisome gene expression. These findings highlight the complexity of mitochondrial dysfunction in ASD and suggest the need for further investigation into the underlying molecular mechanisms.

Alterations of oral microbiota in young children with autism: Unraveling potential biomarkers for early detection

Objectives: This study investigated the oral microbiota in young children with autism spectrum disorder (ASD) to determine possible alterations in microbial composition and identify potential biomarkers for early detection.Methods: Dental plaque samples from 25 children with ASD (aged 3–6 years; M = 4.79, SD = 0.83) and 30 age- and sex-matched typically developing (TD) children were analyzed using 16S rRNA sequencing.Results: The results showed lower bacterial diversity in children with ASD compared to controls, with distinct microbial compositions in the ASD and TD groups. Six discriminatory species (Microbacterium flavescens, Leptotrichia sp. HMT-212, Prevotella jejuni, Capnocytophaga leadbetteri, Leptotrichia sp. HMT-392, and Porphyromonas sp. HMT-278) were identified in the oral microbiota of ASD children, while five discriminatory species (Fusobacterium nucleatum subsp. polymorphum, Schaalia sp. HMT-180, Leptotrichia sp. HMT-498, Actinomyces gerencseriae, and Campylobacter concisus) were identified in TD controls. A model generated by random forest and leave-one-out cross-validation achieved an accuracy of 0.813. Receiver operating characteristic analysis yielded a sensitivity of 0.778, a specificity of 0.857, and an AUC (area under curve) of 0.937 (95 % CI: 0.82 – 1.00) for differentiating children with and without ASD.Conclusion: The present study has unveiled significant disparities in the oral microbial composition between ASD and TD children.Significance: These findings contribute to understanding the microbiome-brain connection in ASD and its implications for early detection and management. Further research is needed to validate these oral bacterial biomarkers and explore their mechanistic association with ASD pathophysiology.

The associations between child behavioral problems, parents' emotional regulation difficulties, and parental burnout among Israeli parents of children with autism during wartime.

Parents of children with Autism Spectrum Disorder (ASD) face heightened challenges during crises like war, leading to parental burnout (PB). Wartime demands may exacerbate the children's behavioral difficulties, which associated with PB. Successful emotional regulation (ER) is considered a protective factor for PB. This study aimed to explore the associations between the child behavioral problems, parent's ER difficulties and PB among parents of children ASD during wartime. 92 parents completed demographic, Parental Burnout, Difficulties in Emotion Regulation, and Child Aberrant Behavior questionnaires. In addition, 18 parents of children with ASD aged 6-21 were semi-interviewed. During wartime, child behavioral problems and parents' ER difficulties were positively correlated with PB, contributing beyond background characteristics and other changes following the war. Parent ER difficulties serve as a mediation variable and did not function as a moderation variable between child behavioral problems and PB. This study emphasizes the increased vulnerability of parents of children with ASD during wartime, highlighting the need for a deeper understanding of how these circumstances affect parental risk and resources. Effective interventions should target emotional regulation and address child behavioral issues, necessitating prioritized support for affected families despite wartime challenges.

The Impact of Face Mask Use on Research Evaluations of 5-7 Year-Old Children With Autism Spectrum Disorder.

The COVID-19 pandemic changed the nature of clinical research assessments. Little is known about the impact of face mask use on research assessments for autism spectrum disorder (ASD). This study reports on tolerability of face mask use, child characteristics associated with tolerability, and the impact of face mask use on researcher ASD diagnostic certainty ratings. This paper describes results from a larger study of children who were clinically diagnosed with ASD in early childhood and were re-evaluated at age 5-7years. Research diagnostic evaluations were conducted from 2018 to 2022 and included cognitive, language, and social-communication assessment. A research psychologist completed a rating scale on the potential impact of face mask use on research assessment diagnostic certainty for a subset of participants (n = 60) who were evaluated during the COVID-19 pandemic. The mean age of study participants was 6.2years. Face masks were tolerated throughout the assessment for 40 children (66.7%); part-time for 13 (21.6%); and not tolerated for 7 (11.6%). Analysis of Variance (ANOVA) suggested that children who did not tolerate a face mask had significantly lower cognitive [F(2, 59) = 13.241, p < 0.001] and communication [F(2, 59) = 13.639, p < 0.001] scores compared to children who wore their mask for all or part of the visit. For 88% of research assessments, research staff indicated that face mask use had "no impact" on overall assessment results. Face mask use during clinical research assessment was not reported by research staff to significantly impact their ability to complete ASD evaluations.

Prematurity and Genetic Liability for Autism Spectrum Disorder.

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by diverse presentations and a strong genetic component. Environmental factors, such as prematurity, have also been linked to increased liability for ASD, though the interaction between genetic predisposition and prematurity remains unclear. This study aims to investigate the impact of genetic liability and preterm birth on ASD conditions. We analyzed phenotype and genetic data from two large ASD cohorts, the Simons Foundation Powering Autism Research for Knowledge (SPARK) and Simons Simplex Collection (SSC), encompassing 78,559 individuals for phenotype analysis, 12,519 individuals with genome sequencing data, and 8,104 individuals with exome sequencing data. Statistical significance of differences in clinical measures were evaluated between individuals with different ASD and preterm status. We assessed the rare variants burden using generalized estimating equations (GEE) models and polygenic load using ASD-associated polygenic risk score (PRS). Furthermore, we developed a machine learning model to predict ASD in preterm children using phenotype and genetic features available at birth. Individuals with both preterm birth and ASD exhibit more severe phenotypic outcomes despite similar levels of genetic liability for ASD across the term and preterm groups. Notable, preterm ASD individuals showed an elevated rate of de novo variants identified in exome sequencing (GEE model with Poisson family, p-value = 0.005) in comparison to the non-ASD preterm group. Additionally, a GEE model showed that a higher ASD PRS, preterm birth, and male sex were positively associated with a higher predicted probability for ASD, reaching a probability close to 90%. Lastly, we developed a machine learning model using phenotype and genetic features available at birth with limited predictive power (AUROC = 0.65). Preterm birth may exacerbate the multimorbidity present in ASD, which was not due to the ASD genetic factors. However, increased genetic factors may elevate the likelihood of a preterm child being diagnosed with ASD. Additionally, a polygenic load of ASD-associated variants had an additive role with preterm birth in the predicted probability for ASD, especially for boys. We propose that incorporating genetic assessment into neonatal care could benefit early ASD identification and intervention for preterm infants.

The Resilience and Lived Experiences of the Parents of Children With Autism in India: A Mixed-method Study

Background and Objectives: Families dealing with autism spectrum disorder (ASD) children try to adapt with different strategies. 1) To assess the resilience of parents dealing with children having ASD and its associated factors. 2) To explore the perspective and strategies of families dealing with children having ASD Methods: This was a mixed-methods study done over a period of 3 months among parents having children diagnosed with ASD; undergoing institutional therapy for more than 6 months in duration. Data collection was done using the PREQ questionnaire and key informant interviews (KII). Informed consent was taken prior to each interview and audio recordings. Relevant tests of significance and deductive analysis followed. Results: There was an equal divide observed between the low (50%) and high resilience (50%) groups. Binary logistic regression showed that the upper socio-economic class showed higher odds of better resilience (OR=4.038, 95% CI, 2.857%, 4.894%) as compared to the lower socio-economic class, and those with higher levels of education showed better resilience (OR=9.903, 95% CI, 2.502%, 3.483% than the lesser educated. KII explored different perspectives on personal experiences, concerns, challenges, attitudes, etc. where both perspectives such as benefits and hardships were addressed on an individual as well as a family basis, respectively Conclusion: Education and socio-economic backgrounds played a role in mending the resilience and other active measures such as peer support mechanisms and self-coping strategies also influenced the attitude and improved determination of parents dealing with children having ASD.

Early developmental levels of children with autism spectrum disorder with different adaptive behaviors: a retrospective analysis.

The Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5) (American Psychiatric Association, 2013) defines autism spectrum disorder (ASD) as a complex neurodevelopmental disorder that begins in early childhood and is accompanied by social communication deficits and repetitive stereotyped behaviors. According to the monitoring data released in 2021 in the United States, the prevalence of ASD in children was as high as 2.27%; that is, one in 44 children had autism (Maenneret al., 2021). China publicly reported this figure to be around 0.7% (Zhou et al., 2020). The current view is that children with ASD are generally impaired in their adaptation ability (McDonaldet al., 2016; Hodgeet al., 2021; Opertoet al., 2021). Adaptive behaviors comprise the conceptual, social, and practical skills that enable individuals to adapt to the environment, which play an important role in daily life (McDonald et al., 2019). "Adaptive behavior" was first described by Doll (1936). Subsequently, abnormalities in adaptive behavior were included in the criteria for intellectual disability for the first time (Heber, 1961). The American Association on Mental Retardation (AAMR) has refined and specified this term several times. Researchers hold different opinions on the structure of social adaptive capability. Greenspan and Granfield (1992) divided social adaptive capability into social understanding and social interaction. However, an increasing number of scholars considered that the concept of adaptive behaviors in children was constructed via multiple dimensions. The most representative one among them was the Vineland Adaptive Behavior Scales (VABS) proposed by Sparrow et al. (1984). This scale illustrates that adaptive behavior includes communication, daily living skills, socialization, and motor skills. Harrison and Oakland (2003) developed an Adaptive Behavior Assessment System (ABAS), by applying the theory of adaptive behavior proposed by AAMR and the American Association on Intellectual and Developmental Disabilities (AAIDD). This system shows that adaptive behavior has three adaptive composites, namely, conceptual composite (including communication, learning function, and self-management), social composite (including leisure and social skills), and practical composite (including community application, home living, health and safety, and self-care). As there are different requirements for the social adaptive capability of children from different cultural backgrounds and various regions, Chinese scholars have translated the Normal Development of Social Skills from Infant to Junior High School Children (S-M) scale compiled by Japanese scholars into Chinese, which is now widely used in China (Zhang et al., 1995). The impairment of adaptive function in children with ASD includes multiple dimensions, such as socialization, communication, and daily living skills (Kanne et al., 2011), and the degree of impairment can predict the prognosis and outcome in real life, including education acquisition and independent living ability (Farley et al., 2009). Therefore, adaptive behavioral capacity is considered to be a key intervention point that directly affects the individual and social outcomes of autistic children (Veenstra-VanderWeele et al., 2017; Bölte et al., 2019).

Factors associated with self-rated mental health in mothers of children and adolescents with autism spectrum disorder.

The rising demand for child care is putting a strain on parents of children with autism spectrum disorder (ASD), particularly the mothers. This study investigated Chinese mothers of children with ASD and examined the factors associated with maternal mental health. An online national survey was completed by the parents of 5077 ASD children and adolescents aged 0‍‒‍17 years. A total of 28.0% of the mothers reported poor mental health status. Mothers with children aged 10‍‒‍13 years had a lower chance of having poor mental health status than mothers with children aged 0‒2 years (odds ratio (OR) 0.63, 95% confidence interval (CI) 0.43‍‒‍0.91). Mothers of children with high-functioning autism were less likely to have poor mental health status than those of children with low-functioning autism (OR 0.76, 95% CI 0.62‍‒‍0.94). Having children with comorbidities was related with a higher risk of poor mental status (OR 1.56, 95% CI 1.35‒1.81), as were having conflicts with other family members (OR 1.44, 95% CI 1.22‍‒‍1.70) and providing full-time care (OR 1.22, CI 1.06‍‒‍1.41). A higher-than-average family income was associated with lower risk of having poor mental health status (OR 0.70, 95% CI 0.58‍‒‍0.82). Factors related to the children and family, and providing full-time care, have a significant effect on mothers' mental health status. Reducing obstacles to work and social interaction, as well as tackling the financial burden of raising an ASD child, may help improve the well-being of mothers.

Pharmacotherapy for the core symptoms of autism spectrum disorder.

Autism spectrum disorder (ASD) is a range of neurodevelopmental diseases characterized by social dysfunction and stereotypic behaviors. The etiology of ASD remains largely unexplored, resulting in a diverse array of described clinical manifestations and varying degrees of severity. Currently, there are no drugs approved by a supervisory organization that can effectively treat the core symptoms of ASD. Childhood and adolescence are crucial stages for making significant achievements in ASD treatment, necessitating the development of drugs specifically for these periods. Based on the drug targets and mechanisms of action, it can be found that atypical psychotropic medications, anti-inflammatory and antioxidant medications, hormonal medications, ion channel medications, and gastrointestinal medications have shown significant improvement in treating the core symptoms of ASD in both children and adolescents. In addition, comparisons of drugs within the same category regarding efficacy and safety have been made to identify better alternatives and promote drug development. While further evaluation of the effectiveness and safety of these medications is needed, they hold great potential for widespread application in the clinical treatment of the principal symptoms of ASD.

Examining Erythrocytes as Potential Blood Biomarkers for Autism Spectrum Disorder: Their Relationship to Symptom Severity and Adaptive Behavior.

Multiple research teams have documented various abnormalities in erythrocyte properties in children with autism spectrum disorder (ASD) compared with neurotypical individuals. Reduced erythrocyte deformability, a crucial factor for microcirculation and oxygen delivery, may affect brain function. Other key factors like nitric oxide (NO) and Na,K-ATPase-regulated cation transport also play roles in both erythrocyte deformability and ASD, suggesting a possible relationship between erythrocyte parameters and autism severity. Thus, this study aims to describe these associations, exploring erythrocyte properties as potential biomarkers in ASD. A total of 179 ASD children were enrolled in this study. Diagnosis was confirmed by the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) and Autism Diagnostic Interview-Revised. The Vineland Adaptive Behavior Scales, Third Edition (VABS-3), was used to assess adaptive behavior. RBC deformability was measured using a filtration technique, while NO production by RBCs was assessed via DAF-2DA fluorescence. Na,K-ATPase kinetics and RBC osmotic resistance were evaluated spectrophotometrically. Children with more severe ASD symptoms had more impaired deformability and osmotic resistance than children with mild symptoms. Higher RBC NO production was linked to better scores in some VABS-3 subdomains, and in the social affect domain of ADOS-2. Higher affinity of Na,K-ATPase for sodium negatively correlated with the occurrence of repetitive and restricted behavior-one of the core ASD symptoms. This study identified potential links between ASD severity and RBC properties. While erythrocyte quality can influence ASD symptomatology, the observed relationships-such as those involving RBC deformability, NO production, Na,K-ATPase kinetics, and osmotic resistance-were not strong or consistent enough to be considered reliable diagnostic or prognostic biomarkers.

Early diagnosis of autism spectrum disorders in children: what pediatricians should know

The issue of autism spectrum disorder (ASD) in children is a significant concern at present. In the Russian Federation, there has been a rapid increase in the incidence of ASD and the number of children diagnosed with this condition, making childhood autism a major medical and social issue. Pediatricians need to be trained in the diagnostic criteria for early identification of this disorder. The main diagnostic methods involve monitoring the child’s development, with the district pediatrician playing a crucial role. The knowledge and expertise of the doctor significantly influences the timeliness of diagnosis and the prescription of appropriate interventions, which can lead to positive outcomes and prevent further symptom progression. It is essential for pediatricians to carefully listen to families’ concerns about any developmental or behavioral issues in their children. According to our research, 32% of families did not receive timely assistance. The most common complaint made by parents was delayed speech development and impaired communication. To identify autism spectrum disorders, doctors should regularly assess a child’s neuropsychiatric development and monitor them in various situations to assess their behavior and interaction with others. If any deviations are detected, a questionnaire such as the M-CHAT (a modified list of questions for detecting autism in children) should be used and the patient referred to a psychiatrist for further consultation. Our study highlighted the need for pediatricians to better understand the signs and symptoms of autism spectrum disorders.

Utilizing Artificial Intelligence for Microbiome Decision-Making: Autism Spectrum Disorder in Children from Bosnia and Herzegovina.

The study of microbiome composition shows positive indications for application in the diagnosis and treatment of many conditions and diseases. One such condition is autism spectrum disorder (ASD). We aimed to analyze gut microbiome samples from children in Bosnia and Herzegovina to identify microbial differences between neurotypical children and those with ASD. Additionally, we developed machine learning classifiers to differentiate between the two groups using microbial abundance and predicted functional pathways. A total of 60 gut microbiome samples (16S rRNA sequences) were analyzed, with 44 from children with ASD and 16 from neurotypical children. Four machine learning algorithms (Random Forest, Support Vector Classification, Gradient Boosting, and Extremely Randomized Tree Classifier) were applied to create eight classification models based on bacterial abundance at the genus level and KEGG pathways. Model accuracy was evaluated, and an external dataset was introduced to test model generalizability. The highest classification accuracy (80%) was achieved with Random Forest and Extremely Randomized Tree Classifier using genus-level taxa. The Random Forest model also performed well (78%) with KEGG pathways. When tested on an independent dataset, the model maintained high accuracy (79%), confirming its generalizability. This study identified significant microbial differences between neurotypical children and children with ASD. Machine learning classifiers, particularly Random Forest and Extremely Randomized Tree Classifier, achieved strong accuracy. Validation with external data demonstrated that the models could generalize across different datasets, highlighting their potential use.

Investigating frank autism: clinician initial impressions and autism characteristics

Background“Frank autism,” recognizable through the first minutes of an interaction, describes a behavioral presentation of a subset of autistic individuals that is closely tied to social communication challenges, and may be linked to so-called “prototypical autism.” To date, there is no research on frank autism presentations of autistic adolescents and young adults, nor individuals diagnosed with autism spectrum disorder (ASD) in childhood who do not meet diagnostic criteria during or after adolescence (loss of autism diagnosis, LAD). In addition, there are currently no data on the factors that drive frank autism impressions in these adolescent groups.MethodsThis study quantifies initial impressions of autistic characteristics in 24 autistic, 24 LAD and 26 neurotypical (NT) individuals ages 12 to 39 years. Graduate student and expert clinicians completed five-minute impressions, rated confidence in their own impressions, and scored the atypicality of behaviors associated with impressions; impressions were compared with current gold-standard diagnostic outcomes.ResultsOverall, clinicians’ impressions within the first five minutes generally matched current gold-standard diagnostic status (clinical best estimate), were highly correlated with ADOS-2 CSS, and were driven primarily by prosodic and facial cues. However, this brief observation did not detect autism in all cases. While clinicians noted some subclinical atypicalities in the LAD group, impressions of the LAD and NT groups were similar.LimitationsThe brief observations in this study were conducted during clinical research, including some semi-structured assessments. While results suggest overall concordance between initial impressions and diagnoses following more thorough evaluation, findings may not generalize to less structured, informal contexts. In addition, our sample was demographically homogeneous and comprised only speaking autistic participants. They were also unmatched for sex, with more females in the non-autistic group. Future studies should recruit samples that are diverse in demographic variables and ability level to replicate these findings and explore their implications.ConclusionsResults provide insights into the behavioral characteristics that contribute to the diagnosis of adolescents and young adults and may help inform diagnostic decision making in the wake of an increase in the demand for autism evaluations later than childhood. They also substantiate claims of an absence of apparent autistic characteristics in individuals who have lost the diagnosis.

The psychometric properties of the Jordanian version of the Modified Checklist for Autism in Toddlers-Revised (M-Chat-R/F)

This study aims to explore the psychometric properties of the Jordanian version of the Modified Checklist for Autism in Toddlers-Revised (M-Chat-R/F). The Jordanian version of M-CHAT-R/F was administered within the Jordanian context among 134 children aged between 6 and 30 months; 37 were diagnosed with autism spectrum disorder (ASD), and 97 were without ASD. The M-CHAT-R/F consists of the modified Autism Spectrum Screening Questionnaire (ASSQ) and a follow-up model. The results revealed that M-Chat-R/F demonstrates acceptable levels of validity and reliability. The content validity was deemed suitable for the Jordanian environment, and the construct validity showed that items relying on a single factor reached saturation. The results also revealed acceptable levels of reliability, with Pearson correlation coefficients ranging between 0.209 and 0.693, all positive, high, and statistically significant. The Cronbach’s alpha coefficient was 0.870, the sensitivity coefficient was 0.786, and the specificity coefficient was 0.957, indicating the checklist's ability to classify cases of ASD in children. In conclusion, the M-CHAT-R/F is a highly valid and reliable instrument that can effectively classify cases of ASD in children aged between 16 and 30 months. A score of 6 or below on the checklist indicates a high probability of ASD, reaffirming the confidence in the potential of the M-CHAT-R/F checklist for healthcare professionals in the field of child development and autism spectrum disorders. Finally, this study emphasizes that the Jordanian version of M-Chat-R/F is a screening rather than a standardized diagnostic tool for ASD, underscoring the need for further validation.