Risk Factors For Autism Spectrum Disorder Research Articles

Cognitive behavioral phenotyping of DSCAM heterozygosity as a model for autism spectrum disorder.

It is estimated that 1 in 36 children are affected by autism spectrum disorder (ASD) in the United States, which is nearly a twofold increase from a decade ago. Recent genetic studies have identified de novo loss-of-function (dnLoF) mutations in the Down Syndrome Cell Adhesion Molecule (DSCAM) as a strong risk factor for ASD. Previous research has shown that DSCAM ablation confers social interaction deficits and perseverative behaviors in mouse models. However, it remains unknown to what extent DSCAM underexpression captures the full range of behaviors, specifically cognitive phenotypes, presented in ASD. Here, we conducted a comprehensive cognitive behavioral phenotyping which revealed that loss of one copy of DSCAM, as in the DSCAM2J+/-, that is, DSCAM heterozygous mice, displayed hyperactivity, increased anxiety-like behavior, and motor coordination deficits. Additionally, hippocampal-dependent learning and memory was affected, including impairments in working memory, long-term memory, and contextual fear learning. Interestingly, implicit learning processes remained intact. Therefore, DSCAM LoF produces autistic-like behaviors that are similar to those observed in human cases of ASD. These findings further support a role for DSCAM dnLoF mutations in ASD and suggest DSCAM2J+/- as a suitable model for ASD research.

Neonatal risk factors associated with autism spectrum disorders: an umbrella review.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by severe social communication deficits and stereotypical repetitive behaviors. This umbrella review assessed neonatal risk factors associated with ASD using meta-analyses and systematic reviews. We conducted a systematic search of interna- tional databases including PubMed, Scopus, and Web of Science for studies published through April 2022 utilizing pertinent keywords. A random-effects model was used to calculate the odds ratio (OR) and 95% confidence interval (CI). Substantial heterogeneity was considered at values of I2≥50%. A quality assessment of the included studies was performed using the A MeaSurement Tool to Assess Systematic Reviews (AMSTAR2) checklist. A total of 207,221 children with ASD and 22,993,128 neurotypical children were included. Six meta- analyses were included in this umbrella review. The factors of congenital heart disease (OR, 1.35; 95% CI, 1.17-1.52), macrosomia (OR, 1.11; 95% CI, 1.05-1.18), low birth weight (OR, 1.63; 95% CI, 1.48-1.81), very low birth weight (OR, 2.25; 95% CI, 1.79-2.83), small for gestational age (OR, 1.17; 95% CI, 1.09-1.24), jaundice (OR, 1.74; 95% CI, 1.42- 2.12), male sex (OR, 1.47; 95% CI, 1.39-1.55) and 1-minute Apgar score <7 (OR, 1.40; 95% CI, 1.26-1.55) were graded as suggestive evidence (class III). Only 3 studies reported heterogeneity (I2<50%). Based on the AMSTAR2 analysis, the methodological quality was critically low in 3 meta- analyses, low in 2, and moderate in 1. Based on these results, clinicians should consider the risk factors for ASD and screen children in clinics.

HLA-A, -B, -C and -DRB1 Association with Autism Spectrum Disorder Risk: A Sex-Related Analysis in Italian ASD Children and Their Siblings.

Autism Spectrum disorders (ASD) are diagnosed more often in males than in females, by a ratio of about 3:1; this is likely to be due to a difference in risk burden between the sexes and/or to "compensatory skills" in females, that may delay the diagnosis of ASD. Identifying specific risk factors for ASD in females may be important in facilitating early diagnosis. We investigated whether HLA- class I: -A, -B, -C and class II -DRB1 alleles, which have been suggested to play a role in the development of ASD, can be considered as sex-related risk/protective markers towards the ASD. We performed HLA allele genotyping in 178 Italian children with ASD, 94 healthy siblings, and their parents. HLA allele distribution was compared between children with ASD, sex-matched healthy siblings, and a cohort of healthy controls (HC) enrolled in the Italian bone marrow donor registry. Allele transmission from parents to children with ASD and their siblings was also assessed. Our findings suggest that HLA-A*02, B*38, and C*12 alleles are more frequently carried by females with ASD compared to both HC and healthy female siblings, indicating these alleles as potential risk factors for ASD in females. Conversely, the HLA-A*03 allele was more commonly transmitted to healthy female siblings, suggesting it might have a protective effect. Additionally, the HLA-B*44 allele was found to be more prevalent in boys with ASD, indicating it is a potential risk factor for male patients. This is the first Italian study of sex-related HLA association with ASD. If confirmed, these results could facilitate early ASD diagnosis in female patients, allowing earlier interventions, which are crucial in the management of neurodevelopmental disorders.

HCBiLSTM-WOA: hybrid convolutional bidirectional long short-term memory with water optimization algorithm for autism spectrum disorder

Autism Spectrum Disorder (ASD) is a type of brain developmental disability that cannot be completely treated, but its impact can be reduced through early interventions. Early identification of neurological disorders will better assist in preserving the subjects’ physical and mental health. Although numerous research works exist for detecting autism spectrum disorder, they are cumbersome and insufficient for dealing with real-time datasets. Therefore, to address these issues, this paper proposes an ASD detection mechanism using a novel Hybrid Convolutional Bidirectional Long Short-Term Memory based Water Optimization Algorithm (HCBiLSTM-WOA). The prediction efficiency of the proposed HCBiLSTM-WOA method is investigated using real-time ASD datasets containing both ASD and non-ASD data from toddlers, children, adolescents, and adults. The inconsistent and incomplete representations of the raw ASD dataset are modified using preprocessing procedures such as handling missing values, predicting outliers, data discretization, and data reduction. The preprocessed data obtained is then fed into the proposed HCBiLSTM-WOA classification model to effectively predict the non-ASD and ASD classes. The initially randomly initialized hyperparameters of the HCBiLSTM model are adjusted and tuned using the water optimization algorithm (WOA) to increase the prediction accuracy of ASD. After detecting non-ASD and ASD classes, the HCBiLSTM-WOA method further classifies the ASD cases into respective stages based on the autistic traits observed in toddlers, children, adolescents, and adults. Also, the ethical considerations that should be taken into account when campaign ASD risk communication are complex due to the data privacy and unpredictability surrounding ASD risk factors. The fusion of sophisticated deep learning techniques with an optimization algorithm presents a promising framework for ASD diagnosis. This innovative approach shows potential in effectively managing intricate ASD data, enhancing diagnostic precision, and improving result interpretation. Consequently, it offers clinicians a tool for early and precise detection, allowing for timely intervention in ASD cases. Moreover, the performance of the proposed HCBiLSTM-WOA method is evaluated using various performance indicators such as accuracy, kappa statistics, sensitivity, specificity, log loss, and Area Under the Receiver Operating Characteristics (AUROC). The simulation results reveal the superiority of the proposed HCBiLSTM-WOA method in detecting ASD compared to other existing methods. The proposed method achieves a higher ASD prediction accuracy of about 98.53% than the other methods being compared.

Indian ASD probands with 25(OH)D and vitamin D binding protein deficiency exhibited higher severity

The severity of autism spectrum disorder (ASD) shows wide variations, though the reason remains unclear. Vitamin D (VitD) deficiency is considered a risk factor for ASD and its supplementation was reported to reduce symptom severity. Since VitD, either synthesized in the skin or absorbed from the food, is transported to the liver by the vitamin D binding protein (DBP), we have analyzed DBP genetic polymorphisms [rs7041 (A/C), rs4588 (G/T), and rs3755967 (C/T)] affecting DBP function [Case = 411; Control = 397], levels of plasma 25(OH)D and DBP [Case = 25; Control = 26], and DBP mRNA expression [Case = 74; Control = 44] in a group of Indo-Caucasoid ASD probands and neurotypical subjects. ASD probands with rs7041’CC’, rs4588 ‘TT’, and rs3755967 ‘TT’ genotypes exhibited higher scores for a few traits. Scores for Imitation and Listening response were also higher in the presence of the “A-T” haplotype (rs7041–rs4588). Plasma 25(OH)D and DBP levels as well as DBP mRNA expressions were significantly lower in the ASD probands as compared to the neurotypical subjects. We infer that DBP deficiency, in the presence of risk genetic variants, could be one of the reasons for the reported 25(OH)D deficiency of the ASD probands.

Autism spectrum disorder in young patients with congenital central hypoventilation syndrome: role of the autonomic nervous system dysfunction

BackgroundCongenital central hypoventilation syndrome (CCHS) is a rare condition characterized by alveolar hypoventilation and autonomic nervous system (ANS) dysfunction requiring long-term ventilation. CCHS could constitute a risk factor of autism spectrum disorder (ASD) due to birth injury related to respiratory failure, which remains to be determined. ANS dysfunction has also been described in ASD and there are indications for altered contribution of ANS-central nervous system interaction in processing of social information; thus, CCHS could be a risk factor for ASD based on pathophysiological background also. Our study aimed to determine the prevalence of ASD among CCHS patients, identify risk factors, and explore the relationship between the ANS, evaluated by heart rate variability indices, and adaptative functioning.ResultsOur retrospective study, based on the analysis of records of a French national center of patients with CCHS under 20 years of age, determined that the prevalence of ASD (diagnosed by a psychiatrist, following the criteria of DSM-4 or DSM-5) was 6/69 patients, 8.7% (95% confidence interval: 3.3–18.0%). In a case (CCHS with ASD, n = 6) – control (CCHS without ASD, n = 12) study with matching on sex, longer neonatal hospitalization stay and glycemic dysfunction were associated with ASD. Adaptative functioning was assessed using Vineland Adaptative behavioral scales (VABS) and heart rate variability indices (including daytime RMSSD as an index of parasympathetic modulation) were obtained from ECG Holter performed the same day. In 19 young subjects with CCHS who had both ECG Holter and VABS, significant positive correlations were observed between RMSSD and three of four sub-domains of the VABS (communication: R = 0.50, p = 0.028; daily living skills: R = 0.60, p = 0.006; socialization: R = 0.52, p = 0.021).ConclusionOur study suggests a high prevalence of ASD in patients with CCHS. Glycemic dysfunction and longer initial hospitalization stays were associated with ASD development. A defect in parasympathetic modulation was associated with worse adaptative functioning.

Prenatal &amp; Perinatal Risk Factors of Autism Spectrum Disorder

Background: Autism spectrum disorder (ASD) is lifelong neurodevelopmental disorder characterized by impairments in social function, communication, and certain behaviors. The etiology of ASD is unclear &amp; it is believed to be multi-factorial, among those several prenatal &amp; perinatal factors are found to be significant. So, the necessity of this study is to detect the presence of known risk factors of ASD which in turn may help in the early diagnosis and intervention for better long-term outcomes. Objective: To find out prenatal and perinatal risk factors of ASD. Method: A case control study was conducted with 112 cases of ASD and 201 controls of 2-6 years of age. The study was carried out in Center for Neurodevelopment and Autism in Children (CNAC), in the department of Paediatrics, Bangabandhu Sheikh Mujib Medical University and Autism Welfare Foundation (AWF). ASD was diagnosed by DSM-IV TR criteria. Mothers were interviewed and data were collected by semistructured questionnaires. Results: Total 5 risk factors were identified as the risk factors of ASD. They were: advanced paternal age (OR=2.84) and maternal age (OR=1.87); male baby (OR=2.01); environmental stress during pregnancy (OR=1.61) and preterm delivery (OR=1.80). Conclusions: It is concluded that advanced paternal age, maternal age, male baby, environmental stress during pregnancy and preterm delivery are associated with increased risk of ASD. BANGLADESH J CHILD HEALTH 2022; VOL 46 (3) : 115-121

Investigation of Liver X Receptor Gene Variants and Oxysterol Dysregulation in Autism Spectrum Disorder.

The NR1H2 gene produces the Liver X Receptor Beta (LXRB) protein, which is crucial for brain cholesterol metabolism and neuronal development. However, its involvement in autism spectrum disorder (ASD) remains largely unexplored, aside from animal studies. This study is the first to explore the potential link between autism and rs2695121/rs17373080 single nucleotide polymorphisms (SNPs) in the regulatory regions of NR1H2, known for their association with neuropsychiatric functions. Additionally, we assessed levels of oxysterols (24-Hydroxycholesterol, 25-Hydroxycholesterol, 27-Hydroxycholesterol), crucial ligands of LXR, and lipid profiles. Our cohort comprised 107 children with ASD and 103 healthy children aged 2-18 years. Clinical assessment tools included the Childhood Autism Rating Scale, Autistic Behavior Checklist, and Repetitive Behavior Scale-Revised. Genotyping for SNPs was conducted using PCR-RFLP. Lipid profiles were analyzed with Beckman Coulter kits, while oxysterol levels were determined through liquid chromatography-tandem mass spectrometry. Significantly higher total cholesterol (p = 0.003), LDL (p = 0.008), and triglyceride (p < 0.001) levels were observed in the ASD group. 27-Hydroxycholesterol levels were markedly lower in the ASD group (p ≤ 0.001). ROC analysis indicated the potential of 27-Hydroxycholesterol to discriminate ASD diagnosis. The SNP genotype and allele frequencies were similar in both groups (p > 0.05). Our findings suggest that disturbances in oxysterol metabolism, previously linked to neurodegeneration, may constitute a risk factor for ASD and contribute to its heterogeneous phenotype.

Environmental Risk Factors in Autism Spectrum Disorder: A Narrative Review.

Existing evidence indicates that environmental factors might contribute up to 50% of the variance in autism spectrum disorder (ASD) risk. This structured narrative review offers a comprehensive synthesis of current knowledge on environmental risk factors in ASD, including evaluation of conflicting evidence, exploration of underlying mechanisms, and suggestions for future research directions. Analysis of diverse epidemiological investigations indicates that certain environmental factors, including advanced parental age, preterm birth, delivery complications, and exposure to toxic metals, drugs, air pollutants, and endocrine-disrupting chemicals, are linked to an increased ASD risk through various mechanisms such as oxidative stress, inflammation, hypoxia, and its consequences, changes in neurotransmitters, disruption of signaling pathways and some others. On the other hand, pregnancy-related factors such as maternal diabetes, maternal obesity, and caesarian section show a weaker association with ASD risk. At the same time, other environmental factors, such as vaccination, maternal smoking, or alcohol consumption, are not linked to the risk of ASD. Regarding nutritional elements data are inconclusive. These findings highlight the significance of environmental factors in ASD etiology and emphasize that more focused research is needed to target the risk factors of ASD. Environmental interventions targeting modifiable risk factors might offer promising avenues for ASD prevention and treatment.

The role of the CNTNAP2 gene in the development of autism spectrum disorder

Autism spectrum disorder (ASD) is a neurodevelopmental disorder in which genetic and environmental factors interact in its development. Research suggests that the contactin associated protein 2 (CNTNAP2) gene may play a role in ASD pathophysiology, yet more studies involving human participants and animal models of autism are needed. One such model may be the use of prenatal valproic acid (VPA) model to induce autism-like behaviors in offspring rats. The aim of this study was twofold: (1) to examine the association of the CNTNAP2 gene rs2710102 variant with ASD in children; and (2) to examine the effect of prenatal exposure to VPA on Cntnap2 gene expression in the rat brain. The study included 167 children of European ancestry—81 diagnosed with ASD (20 girls, 61 boys; age 4.9 ± 1.4 years) and 86 controls (44 girls, 42 boys; 5.1 ± 1.2 years). In vivo experiments were conducted in 80 rats (40 with the VPA model of autism), with Cntnap2 gene expression analysis in the amygdala, hippocampus, prefrontal cortex, and cerebellum. Results demonstrated that the frequency of the CNTNAP2 gene rs2710102 GG genotype was significantly higher in children with ASD when compared with controls (33.3 vs 19.8%; OR=2.03, 95%CI [1.004, 4.102], p = 0.035), although, potentially due to bias in cohort selection, in the ASD children this polymorphism did not meet Hardy-Weinberg expectations (χ2 =5.40, p = 0.02). In addition, Cntnap2 gene expression was significantly lower (p < 0.01) in the amygdala and hippocampus of VPA rats when compared with controls, regardless of sex. These results support previous research and provide evidence for the CNTNAP2 gene as a risk factor for ASD.

The Association Between Children's Autism Spectrum Disorders and Central Nervous System Infections: Using a Nationwide Claims Database.

Several studies have reported an association of autism spectrum disorder (ASD) with central nervous system (CNS) infections and intrauterine infections; however, the results remain unclear. This study aimed to examine this issue using an extensive national database. Utilizing JMDC medical claims database, we conducted a retrospective cohort study of children with at least three years of follow-up from birth, ensuring the mother's information was available. The focus was on the relationship between ASD incidence and exposures like viral meningitis/encephalitis, bacterial meningitis, and intrauterine infections. Cox proportional hazards was used to calculate hazard ratios (HRs) with covariates such as presence of maternal history of mental illness, preterm, low birth weight, respiratory and cardiac disorder, epilepsy, and cranial malformations. Sensitivity analysis was performed on sibling and multiple birth cohorts to adjust for genetic factors. Out of 276,195 mother-child pairs, bacterial meningitis was observed in 1326 (0.5%), viral meningitis/encephalitis in 6066 (2.2%), intrauterine infection in 3722 (1.3%), and ASD in 14,229 (5.2%) children. The adjusted HRs (95% confidence interval, p value) for ASD were 1.40 (1.25-1.57, p < 0.001), 1.14 (1.02-1.26, p = 0.013), and 1.06 (0.87-1.30, p = 0.539) for viral meningitis/encephalitis, intrauterine infection, and bacterial meningitis, respectively. After sensitivity analysis, the HRs for viral meningitis/encephalitis and ASD remained significantly high. Viral meningitis/encephalitis may be an independent risk factor for ASD. Awareness of this risk among healthcare professionals can lead to early intervention and potentially improved outcomes for affected children.

Neonatal Risk Factors for ASD and ADHD and Therapeutic Regimens for their Management in Children and Adolescent

Background: Attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are both neurodevelopmental disorders that affect children early in life. Both conditions have a complicated origin. Objectives: This study aims to evaluate the neonatal complications linked with ASD and ADHD and to outline the utilization of psychotropic medications in the management of children and adolescents with ASD. Methods: This study was conducted from January to April 2022 at the National Center for Autism/Medical City Complex in Baghdad. It involved 120 children with neurodevelopmental disorders and 120 control participants. A questionnaire was used to collect the data, which was then analyzed using SPSS 25. Results: Five perinatal factors have significant associations with child behavioral disorders, as indicated by a P-value of less than 0.05. These factors are Low birth weight (LBW), newborn complications, preterm birth, being the last child, and children delivered via a cesarean section. Additionally, the types of behavioral disorders have significant associations with the use of psychotropic medications. Around 50% of children with both ASD and ADHD, as well as children with ADHD alone, have used psychotropic medications. By comparison, only about 27% of children with ASD have used these medications. Conclusions: Neonatal risk factors may be linked to neurodevelopmental disorders. Medications are used to manage ASD and ADHD in children and youth.

Association Between Maternal Diabetes and ChildhoodNeurodevelopmental Disorders

IntroductionThe prevalence of metabolic disorders is rising, diabetes prevalence doubled during 1990-2017. In 2020, 7.8% of US pregnancies were complicated by Gestational Diabetes Mellitus (GDM). Our aim is to assess the impact this increase has on childhood developmental disorders and understand the link between maternal metabolic disorders and neurodevelopmental disorders in children with focus on Autism Spectrum Disorder (ASD) and ADHD.ObjectivesOur aim is to assess the impact this increase has on childhood developmental disorders and understand the link between maternal metabolic disorders and neurodevelopmental disorders in children with focus on Autism Spectrum Disorder (ASD) and ADHD.MethodsA literature search was conducted using medical subject heading (MeSH) terms in PubMed, database from Jan 1 2014 to Feb 15, 2023. Only large-scale (n&gt;20,000) were reviewed. A total of 3 articles were included in our final qualitative synthesis review.ResultsAn increased rate of ASD and ADHD are observed in children of mothers with insulin resistance, demonstrated by Type 2 Diabetes (T2DM) and GDM (Kuan-Ru Chen, et al.). T2DM had the strongest association with ASA and ADHD when looking at other neurodevelopmental disorders (Chen, et al.). GDM severity correlates to increased risk of ADHD (Xiang, et al.). Maternal obesity as a risk factor for ASA and ADHD has confidence intervals in the same ranges as immune dysregulatory disorders including Asthma and Autoimmune disorders (Woolfenden, et al.).ConclusionsPathomechanism of neurodevelopmental disorders involves maternal oxidative stress and inflammation. Maternal T2DM and obesity are pro-inflammatory states that can be targeted as modifiable risk factors of ASD and ADHD in children. Preconception metabolic optimization and tight glycemic control in pregnancy are two ways clinicians can start to address the rates of rising ASD and ADHD.Disclosure of InterestNone Declared

Dietary nutrients that potentially mitigate autism spectrum disorder and dietary recommendations for children and pregnant women

AbstractThe increasing incidence of autism spectrum disorder (ASD) worldwide poses serious social and family problems. Various risk factors for ASD are gradually being recognized, and there are also various options for the treatment of ASD. It is worth noting that dietary interventions have been shown to have a positive effect in terms of mitigating and preventing some psychiatric disorders, such as epilepsy, Parkinson's disease, and ASD, and they are gradually receiving attention as a safe adjuvant treatment. In this review, based on the current understanding of the pathogenic factors and intervention strategies for ASD, different dietary patterns that can be selected for children with ASD are discussed in depth. Moreover, a review was conducted on the use of dietary factors, such as natural products from food sources, prebiotics, and probiotics, as effective supplements to existing dietary patterns. As increasing evidence shows that maternal risk factors, such as obesity, diabetes, and hypertension, are associated with an increased risk of ASD in offspring, dietary suggestions are also made for pregnant woman with ASD‐related risk factors to counteract the impact of these risk factors. With compensation from food‐derived natural products, prebiotics, and probiotics, suitable dietary patterns can further enhance the effectiveness of dietary interventions for ASD. In addition, dietary recommendations for pregnant woman may reduce the potential impact of obesity, diabetes, and hypertension and may help to prevent the occurrence of ASD to the maximum extent possible.

عوامل الخطر قبل الولادة وأثناء الولادة و بعد الولادة المرتبطة باضطراب طيف التوحد في فلسطين: دراسة الحالات و الشواهد

Background: Autism spectrum disorder (ASD) is a multifactorial neurodevelopment disorder. Several prenatal, perinatal, and postnatal factors are suggested as risk factors for ASD. This study aimed to correlate prenatal, perinatal, and postnatal factors in a limited number of cases in Palestine. Methods: A case-control study involved 120 children (60 typically diagnosed with ASD and 60 healthy matched with the ASD group). The parents of the children in both groups were asked to fill out the questionnaire. Results: The study showed a higher male-to-female ratio in the ASD group. A family history of ASD was reported in 38.3% of the ASD group and 11.7% in the healthy group. Three prenatal risk factors, including maternal passive smoking, preserving follow-up prenatal visits, and experiencing psychological stress by mothers, were significantly associated with ASD. Most of the postnatal factors were significantly associated with increased ASD risk. The studied perinatal factors were not significantly associated with ASD. The parental factors, such as paternal age greater than 30 years and lower levels of education, displayed significant risk factors associated with ASD. Conclusion: This study found significant associations between several prenatal, postnatal, and parental factors and ASD in a sample of Palestinian children. المقدمة: اضطراب طيف التوحد هو اضطراب نمائي عصبي متعدد العوامل. تم تحديد العديد من العوامل قبل الولادة و أثناء الولادة و بعد الولادة كعوامل قد تكون مرتبطة بالاصابة باضطراب طيف التوحد. هدفت هذه الدراسة لفحص ارتباط عدة عوامل قبل الولادة و أثناء الولادة و بعد الولادة في عدد محدود من حالات التوحد في فلسطين. المنهجية: تمت الدراسة من خلال جمع معلومات من عينة ضمت 120 طفل (60 تم تشخيصهم بطيف التوحد و 60 طفل سليم و متطابقين مع مجموعة التوحد). تمت الاجابة على الاستبيان من قبل أولياء الأمور في المجموعتين. النتائج: أظهرت الدراسة أن نسبة الذكور الى الاناث في مجموعة طيف التوحد كانت أعلى. تم تحديد نسبة وجود تاريخ عائلي في 38.3% من مجموعة طيف التوحد و 11.7% من مجموعة الاطفال السليمين. تم تحديد ثلاثة عوامل خطورة قبل الولادة مرتبطة بشكل وثيق مع اضطراب طيف التوحد و تشمل التدخين السلبي للأم، متابعة زيارات الرعاية قبل الولادة، و التعرص للاجهاد النفسي من قبل الأمهات. معظم عوامل الخطر بعد الولادة كانت مرتبطة بشكل وثيق بزيادة خطر الاصابة بطيف التوحد. عوامل الخطر أثناء الولادة التي تمت دراستها لم ترتبط بشكل وثيق باضطراب طيف التوحد. العوامل المتعلقة بالوالدين مثل عمر الأب أكثر من 30 عام و مستويات التعليم المتدنية أظهرت ارتباطا وثيقا بالإصابة بطيف التوحد. الاستنتاج: وجدت الدراسة ارتباطات وثيقة بين عدة عوامل قبل الولادة و أثناء الولادة و بعد الولادة مع طيف التوحد في عينة من الأطفال الفلسطينيين.

Causal effects of gut microbiota on autism spectrum disorder: A two-sample mendelian randomization study.

There is increasing evidence that alterations in gut microbiota (GM) composition are associated with autism spectrum disorder (ASD), but no reliable causal relationship has been established. Therefore, a 2-sample Mendelian randomization (MR) study was conducted to reveal a potential causal relationship between GM and ASD. Instrumental variables for 211 GM taxa were obtained from genome-wide association studies (GWAS) and Mendelian randomization studies to estimate their impact on ASD risk in the iPSYCH-PGC GWAS dataset (18,382 ASD cases and 27,969 controls). Inverse variance weighted (IVW) is the primary method for causality analysis, and several sensitivity analyses validate MR results. Among 211 GM taxa, IVW results confirmed that Tenericutes (P value = .0369), Mollicutes (P value = .0369), Negativicutes (P value = .0374), Bifidobacteriales (P value = .0389), Selenomonadales (P value = .0374), Bifidobacteriaceae (P value = .0389), Family XIII (P value = .0149), Prevotella7 (P value = .0215), Ruminococcaceae NK4A214 group (P value = .0205) were potential protective factors for ASD. Eisenbergiella (P value = .0159) was a possible risk factor for ASD. No evidence of heterogeneous, pleiotropic, or outlier single-nucleotide polymorphism was detected. Additionally, further sensitivity analysis verified the robustness of the above results. We confirm a potential causal relationship between certain gut microbes and ASD, providing new insights into how gut microbes mediate ASD. The association between them needs to be further explored and will provide new ideas for the prevention and treatment of ASD.

Particulate matter 2.5 causally increased genetic risk of autism spectrum disorder

BackgroundGrowing evidence suggested that particulate matter (PM) exhibit an increased risk of autism spectrum disorder (ASD). However, the causal association between PM and ASD risk remains unclear.MethodsWe performed two-sample Mendelian randomization (MR) analyses, using instrumental variables (IVs) sourced from the largest genome-wide association studies (GWAS) databases. We employed three MR methods: inverse-variance weighted (IVW), weighted median (WM), and MR-Egger, with IVW method serving as our primary MR method. Sensitivity analyses were performed to ensure the stability of these findings.ResultsThe MR results suggested that PM2.5 increased the genetic risk of ASD (β = 2.41, OR = 11.13, 95% CI: 2.54–48.76, P < 0.01), and similar result was found for PM2.5 absorbance (β = 1.54, OR = 4.67, 95% CI: 1.21–18.01, P = 0.03). However, no such association was found in PM10 (β = 0.27, OR = 1.30, 95% CI: 0.72–2.36, P = 0.38). After adjusting for the false discovery rate (FDR) correction, our MR results remain consistent. Sensitivity analyses did not find significant heterogeneity or horizontal pleiotropy.ConclusionsOur findings indicate that PM2.5 is a potential risk factor for ASD. Effective strategies to mitigate air pollutants might lead to a reduced incidence of ASD.

Exploring the influences of education, intelligence and income on mental disorders

BackgroundPrevious studies have shown that educational attainment (EA), intelligence and income are key factors associated with mental disorders. However, the direct effects of each factor on major mental disorders are...

Korean Clinical Guideline for Autism Spectrum Disorder - Clinical Features, Course, Epidemiology, and Cause.

Autism spectrum disorder (ASD) is a heterogeneous developmental disorder characterized by impairments in two core areas: 1) social communication and interaction and 2) restricted and repetitive patterns of behaviors and interests. In general, ASD is known to be a lifelong disorder. Follow-up studies from childhood to adulthood have reported that the severity of the key symptoms ASD decreases over time. However, chronic health problems including mental health occur in many patients with ASD. The prevalence of ASD has increased from around 0.04% in the 1970s to 2.8% at present. The average age of diagnosis in developed countries is 38-120 months of age. Recent evidence suggests that biological factors which include genetic, congenital, immunological, neuroanatomical, biochemical, and environmental ones are important in causing autism. Until now, early signs and various risk factors of ASD have been suggested.

Clinical and demographic characteristics of autistic children in Al-Hilla city

Abstract Background: An increase in the number of cases of autism spectrum disorder (ASD) has been reported around the world in the recent years, identifying the major risk factors and main associations helps increase our knowledge and planning for future studies. Objective: To identify the major risk factors for ASD and associated medical and psychiatric comorbidities in Al-Hilla city. Materials and Methods: This is a record review study done in five centers for behavioral therapy of autistic children in Al-Hilla city from January 15, 2023, to May 15, 2023, on 204 children with ASD, their ages ranged from 2 to 12 years old, full history and clinical examination was done for all children. Results: Out of 204 children studied, 70.58% were males and 29.4% were females with a male-to-female ratio of 2.4:1. Their ages ranged from 2 to 12 years old, and 62.7% presented between 4 and 6 years of age. About 62.7% presented with speech delay, 17.6% had a family history of similar problems, 19.6% had sleep disturbance, 41.2% had gastrointestinal problems, 13.7% had epilepsy, and 50.9% had hyperactivity. Conclusion: We found a higher male-to-female ratio, delayed presentation to medical attention, most children present with speech delay and most patients had associated medical and psychiatric problems.