Presence Of Autism Spectrum Disorder Research Articles

Serum BAFF, APRIL, TWEAK, TNFSF18, TNFR2, and TNFRS12A levels in preschool children with autism spectrum disorder

Objectives A gradually increasing number of studies have reported that dysregulation in the immune system may be a contributing factor in the etiopathogenesis of autism spectrum disorder (ASD). However, only limited data has existed about the role of tumor necrosis factor (TNF) superfamily members in ASD. This study aimed to investigate whether serum levels of BAFF, APRIL, TWEAK, TNFSF18 TNFR2, and TNFRS12A are associated with ASD in preschool children. Methods A total of 65 (52 boys/13 girls) preschool children with ASD and 40 (28 boys/12 girls) healthy controls were included in the study. The severity of the ASD symptoms was assessed by the Autism Behavior Checklist and the Childhood Autism Rating Scale. Serum levels of immunologic parameters were measured by enzyme-linked immunosorbent assay. Results Analysis indicated that serum BAFF, TNFSF18, TNFR2, and TNFRS12A levels were significantly lower and serum APRIL and TWEAK levels were significantly higher in the ASD group than in the control group. However, with logistic regression only low BAFF levels and high APRIL levels had relationships with the presence of ASD. Conclusions These findings suggest that TNF superfamily members, especially the BAFF/APRIL system may play a role in the pathophysiology of ASD.

Relationship between serum cortisol levels, stereotypies, and the presence of autism spectrum disorder in patients with severe intellectual disability

Stereotypies are one of the diagnostic criteria for autism spectrum disorder (ASD) and are common to both ASD and intellectual disability (ID). Previous studies have been inconclusive, with some showing a positive correlation between stereotypies and cortisol, while others have shown a negative correlation. We hypothesised and investigated the presence of ASD as one of the variables involved in this discrepancy. We tested the following hypotheses on serum cortisol in a total of 84 hospitalised patients with severe ID and ASD with severe ID. Hypothesis (1) Higher levels of stereotypies are associated with higher levels of serum cortisol. Hypothesis (2) The presence of ASD will moderate the association between stereotypies and high serum cortisol levels. The results of the analysis supported hypotheses (1) and (2). We also found that in the population with ID, serum cortisol levels were significantly lower in the ASD group compared to the non-ASD group. The present findings that the association between stereotypies and serum cortisol levels in people with severe ID is moderated by the presence of ASD suggest that the stress response system may function differently in people with ID and ASD than in the general population.

Personal Risk Factors Regarding the Presence of Autism Spectrum Disorders

<p style="text-align:justify">The current understanding of autism spectrum disorder (ASD) as an alteration of neurodevelopment requires deepening in the causes that originate it. This study aims to investigate the relationship between the presence of ASD in subjects aged 2-22 years and some related biological factors (sex/gender, age, and body mass index). A quasi-experimental study, with a cross-sectional retrospective design, was conducted on 209 subjects (n = 111 with ASD and n = 98 neurotypical) who were applied to the GARS-2 test in three areas: communication, social interaction, and stereotyped behaviours between 2016-2021. The risk factors identified are related to early age (OR = 2.27, 95% CI = 1.30-3.96), being male (OR = 2.67, 95% CI = 1.41-4.68) and having underweight (OR = 2.03, 95% CI = 1.09-3.80). Differences in stereotyped behaviours (OR = 1.10, 95% CI = 1.05-1.14), functional communication (OR = 1.13, 95% CI = 1.08-1.17) and social interaction (OR = 1.11, 95% CI = 1.08-1.15), were found, being at risk as soon as scores related to ASD diagnosis. In sum, rigorous and multidimensional understanding analysis among specialists regarding people with ASD allows to evaluate the development of the set of alterations and key variables to provide support and assistance to their quality of life.</p>

Machine Learning Algorithms Applied to Predict Autism Spectrum Disorder Based on Gut Microbiome Composition.

The application of machine learning (ML) techniques stands as a reliable method for aiding in the diagnosis of complex diseases. Recent studies have related the composition of the gut microbiota to the presence of autism spectrum disorder (ASD), but until now, the results have been mostly contradictory. This work proposes using machine learning to study the gut microbiome composition and its role in the early diagnosis of ASD. We applied support vector machines (SVMs), artificial neural networks (ANNs), and random forest (RF) algorithms to classify subjects as neurotypical (NT) or having ASD, using published data on gut microbiome composition. Naive Bayes, k-nearest neighbors, ensemble learning, logistic regression, linear regression, and decision trees were also trained and validated; however, the ones presented showed the best performance and interpretability. All the ML methods were developed using the SAS Viya software platform. The microbiome's composition was determined using 16S rRNA sequencing technology. The application of ML yielded a classification accuracy as high as 90%, with a sensitivity of 96.97% and specificity reaching 85.29%. In the case of the ANN model, no errors occurred when classifying NT subjects from the first dataset, indicating a significant classification outcome compared to traditional tests and data-based approaches. This approach was repeated with two datasets, one from the USA and the other from China, resulting in similar findings. The main predictors in the obtained models differ between the analyzed datasets. The most important predictors identified from the analyzed datasets are Bacteroides, Lachnospira, Anaerobutyricum, and Ruminococcus torques. Notably, among the predictors in each model, there is the presence of bacteria that are usually considered insignificant in the microbiome's composition due to their low relative abundance. This outcome reinforces the conventional understanding of the microbiome's influence on ASD development, where an imbalance in the composition of the microbiota can lead to disrupted host-microbiota homeostasis. Considering that several previous studies focused on the most abundant genera and neglected smaller (and frequently not statistically significant) microbial communities, the impact of such communities has been poorly analyzed. The ML-based models suggest that more research should focus on these less abundant microbes. A novel hypothesis explains the contradictory results in this field and advocates for more in-depth research to be conducted on variables that may not exhibit statistical significance. The obtained results seem to contribute to an explanation of the contradictory findings regarding ASD and its relation with gut microbiota composition. While some research correlates higher ratios of Bacillota/Bacteroidota, others find the opposite. These discrepancies are closely linked to the minority organisms in the microbiome's composition, which may differ between populations but share similar metabolic functions. Therefore, the ratios of Bacillota/Bacteroidota regarding ASD may not be determinants in the manifestation of ASD.

Scale of Emotional Development - Short: reliability and validity in adults with intellectual disability.

Intellectual disability (ID) is often associated with delays in emotional development (ED). The Scale of Emotional Development - Short (SED-S) was developed to assess the level of ED and to adapt treatment and care accordingly. In a sample of 724 adults from five study sites in three countries, a confirmatory factor analysis with a one-factor model was conducted on the entire dataset as well as in different subgroups. Furthermore, internal consistency was investigated using Cronbach's alpha. The confirmatory factor analysis indicated that a single-factor model fits the SED-S data well. The subgroup analyses revealed good model fit, regardless of the severity of ID and irrespective of sex or the presence of autism spectrum disorder or psychiatric disorders. Internal consistency was excellent for the entire sample (Cronbach's alpha=0.93) and various subgroups (0.869-0.938). The results of this study suggest that the SED-S is psychometrically sound and can be used to assess the level of ED in adults with ID.

PUSAT TERAPI ANAK AUTIS DI MARTAPURA KALIMANTAN SELATAN

During the period of cognitive development, some children not a few who experience some problems at the stage of their cognitive development, one of which is the presence of Autism Spectrum Disorder (ASD). It was recorded in January 2018 that there were 500 cases of children with autism in South Kalimantan. In South Kalimantan itself, therapy centers for autistic children are still very few and the facilities they provide are still very limited. And there are still many parents who think therapy for autistic children doesn't make any changes to their children. Meanwhile, in therapy it takes a long time and consistently in therapy and the active cooperation of parents must be active at home. So it is felt that there is a need for an Autistic Children Therapy Center in South Kalimantan at this time. This is realized by the method of Psychological Architecture and the concept of applying the principles of Healing Environment to create an Autistic Child Therapy Center that can improve the behavior of autistic children for the better and provide education to parents.

Profile of psychotropic agents used in autism spectrum disorder according to comorbidities in Turkey: A 4-year evaluation.

It is known that the use of psychotropic pharmaceuticals is common in comorbidities seen in autism spectrum disorder (ASD). We have very limited knowledge about which psychotropic drugs are prescribed when comorbidities are diagnosed in patients with ASD. It is aimed to determine the profile of psychotropic agents in patients diagnosed with ASD associated with comorbidities between the ages of 0-24 in Turkey over 4 years. Data belonging to ASD in Prescription Information System (PIS) was obtained from the 'Turkish Medicines and Medical Devices Agency'. A total of 34 066 prescriptions including 45 624 psychotropic drugs were analyzed. A total of psychotropic drugs prescribed for patients with ASD was 75.4%. The following psychotropic drugs were prescribed for the patients with ASD and its comorbidities; risperidone (28.6%), aripiprazole (13.7%), and valproic acid (11.3%) are the most preferred psychotropics. The percentage of pharmaceuticals containing psychotropic active substances in prescriptions with ASD and its comorbidities is 7.5%. This study is the first research in which psychotropics used in ASD were evaluated over a wide period and nationwide. Antipsychotics were most commonly prescribed with the diagnosis of ASD. In the presence of ASD and its comorbidities, risperidone was most frequently prescribed.

A Meta-Analysis on Adjustment Difficulties in Siblings of Children with and without Autism Spectrum Disorder

This meta-analytic study aimed to examine how the presence of Autism Spectrum Disorder (ASD) in a child affects their sibling(s)’s social, emotional, and behavioral adjustment. Many studies have investigated how the presence of ASD in a child affects their sibling(s) in social, emotional, and behavioral adjustment, but their results are mixed. Moreover, the previous reviews did not address the personal characteristics that account for the differences in siblings’ adjustment. This review focused on examining the three primary domains of adjustment and the moderating factors of their adjustment by applying a new meta-analytic approach of structural equation modeling (SEM) to provide a reliable statistical synthesis of effect sizes observed in existing individual studies. A total of 120 effect sizes – standardized differences between siblings of children with ASD and siblings of typically developing (TD) children—were calculated from 24 studies. The results revealed that siblings of children with ASD experienced more adjustment difficulties than siblings of TD children in all three domains. Furthermore, this study found that adjustment difficulties were more likely to be alleviated when siblings were older, female, and/or older than their sibling(s) with ASD. The findings provide important implications for support systems that can help siblings of children with ASD learn practical coping skills, develop a strong bond with family, and share their experiences with others in the community. Future research is needed to clarify other potential covariates that affect adjustment in siblings of children with ASD.

Factors that predict the safe recovery of missing and abducted children

Abstract Over 2,000 children were reported as ‘critically missing’ to a federal law enforcement agency’s crisis watch unit between the years of 2014 and 2020. The present study examines characteristics from these cases to determine what factors may exist to help predict their safe recovery. Most children in the sample (89%) were recovered alive. Several factors that serve as predictors for a safe recovery were revealed, including being a multiple-victim incident; being reported last seen at school; the victim/offender relationship; and initial incident classification of abduction, as opposed to missing. A significant interaction between age and presence of Autism Spectrum Disorder (ASD) suggests that young victims with ASD are less likely to be recovered alive. Operational considerations for law enforcement are provided.

Fragile X-Associated Neuropsychiatric Disorders (FXAND) in Young Fragile X Premutation Carriers.

Background: The fragile X premutation carrier state (PM) (55-200 CGG repeats in the fragile X messenger ribonucleoprotein 1, FMR1 gene) is associated with several conditions, including fragile X-associated primary ovarian insufficiency (FXPOI) and fragile X-associated tremor ataxia (FXTAS), with current literature largely primarily investigating older PM individuals. The aim of this study was to identify the prevalence of fragile X-associated neurodevelopmental disorders (FXAND) in a sample of young PM individuals. Methods: This was a retrospective study conducted through a medical record review of PM individuals who were seen either for clinical concerns (probands, 45.9%) or identified through the cascade testing (non-probands, 54.1%) of an affected sibling with fragile X syndrome. Information on the presence of autism spectrum disorder, attention deficit hyperactivity disorder, anxiety, depression, long-term psychiatric medication intake, and cognitive function, based on standardized assessments, was obtained. Molecular data, including CGG repeat number and FMR1 mRNA levels, were also available for a subset of participants. Analysis included descriptive statistics and a test of comparison to describe the clinical profile of PM individuals pertinent to FXAND. Results: Participants included 61 individuals (52 males and 9 females) aged 7.8 to 20.0 years (mean 12.6 ± 3.4) with a mean full-scale IQ of 90.9 ± 22.7. The majority (N = 52; 85.2%) had at least one mental health disorder, with anxiety being the most common (82.0% of subjects), followed by ADHD (66.5%), and ASD (32.8%). Twenty-seven (87.1%) of non-probands also had at least one mental health condition, with probands having lower cognitive and adaptive skills than non-probands. ASD was present in 20 participants (17/52 males and 3/9 females; 15 probands) with significantly lower FSIQ in those with ASD (mean 73.5 vs. 98.0, p < 0.001). Participants with ASD had a higher number of long-term medications compared to those without (2.32 vs. 1.3, p = 0.002). Conclusions: Our findings indicate a high rate of FXAND diagnoses within a cohort of young PM individuals, including those identified via cascade testing, although this was not a population sample. An awareness of the entity of FXAND and the early recognition of the symptoms of associated conditions may facilitate timely and appropriate care for PM individuals.

Prevalence of Autism Spectrum Disorder (ASD) in all Individuals Diagnosed with Down Syndrome (DS): A Systematic Review and Meta-analysis Protocol

Background: Traditionally, autism spectrum disorder in people with Down syndrome was believed to be uncommon. This misconception is rooted in the challenges that a dual diagnosis poses. In fact, evidence indicates that children with Down syndrome are at risk for autism spectrum disorder with a potentially higher prevalence than the typically developing population. The purpose of this review is to determine the reported prevalence rate of autism spectrum disorder in all individuals with Down syndrome in comparison to the prevalence rate of autism spectrum disorder in the typical population when specific diagnostic tools are used. Methods: A systematic review will be conducted of the prevalence and incidence data and perform a meta-analysis of these results. This study will consider all studies that reported on children and adults with an existing diagnosis of Down syndrome and diagnosed by the standardized assessments for autism spectrum disorder. The diagnoses made by team assessment (psychologist, psychiatrist &amp; developmental pediatrician) will also be considered according to DSM-III, DSM-IV or DSM-V criteria for diagnosing autism spectrum disorder or if they use autism spectrum disorder screeners. Studies will be considered from all countries that have data reporting prevalence on this topic. The language restrictions will not be applied attempting to translate studies that are not in English. The five databases (MEDLINE, Embase, PsychINFO, Scopus, and CINAHL) will be searched. Two reviewers will conduct all screening and data extraction independently. The articles will be categorized according to key findings and a critical appraisal performed. Discussion: The results of this review will bring increased awareness of the presence of autism spectrum disorder in individuals with Down syndrome. In doing so, this may facilitate a recommendation for screening and diagnosis of autism spectrum disorder in all individuals with Down syndrome. Based on the research demonstrating the benefits of early identification and intervention on the outcomes of children with autism, we anticipate similar benefits in this population. This will guide the allocation of resources and direct future research.

Assessment of Challenging Behavior Exhibited by People with Intellectual and Developmental Disabilities: A Systematic Review.

The assessment of challenging behavior exhibited by people with intellectual and developmental disabilities is essential for the planning of prevention and intervention programs. This review aimed to identify and analyze the standardized instruments that exclusively focus on the assessment of challenging behavior. We identified and organized 141 articles into four categories: original instrument studies, validation studies, relational studies, and intervention studies. The results identified 24 instruments that generally show high-quality psychometric properties and other utilities beyond the observation of the presence of challenging behavior and diagnostic categorization. Age, level of adaptive behavior, disability, presence of autism spectrum disorder, and medication are some of the variables that were found to be possibly related to the occurrence of challenging behavior. Additionally, the results suggest that interventions focused on supporting positive behavior or providing training on behavior to professionals and caregivers significantly reduced the occurrence of these behaviors. Instruments that help us to understand and measure the challenging behavior exhibited by people with intellectual and developmental disabilities are essential for the design of effective evaluation and intervention protocols.

Understanding Vulnerability in Girls and Young Women with High-Functioning Autism Spectrum Disorder

There is a population of young women with autism spectrum disorder (ASD) who function relatively well so that their disorder is not easily recognized. If their difficulties with emotion regulation in childhood continue into adolescence they are vulnerable to the development of a number of mental disorders, treatment of which can be difficult if the presence of ASD is not understood. In this commentary, I use the example of gender dysphoria to illustrate the issues.

Parental age and autism severity in the Rhode Island Consortium for Autism Research and Treatment (RI-CART) study.

Advanced parental age at offspring birth has been associated with autism spectrum disorder (ASD). The objective of the current study was to investigate associations between parental age at birth and autism severity. The Rhode Island Consortium for Autism Research and Treatment (RI-CART) study represents a community-based sample with a range of autism severity, including participants with and without ASD. This study involved participants (n=1178) enrolled in RI-CART with available mother and father ages at birth. Primary data points included the age of mother and father at the participant's birth and results from the Autism Diagnostic Observation Schedule - Second Edition (ADOS-2). Mothers were 1.7 years older at the time of birth of the child with ASD, as compared to mothers of offspring without ASD. Fathers of children with ASD were 1.6 years older at the time of birth than fathers of children without ASD. The age of both parents at offspring birth displayed a positive, statistically significant association with overall ASD severity and the severity of restricted/repetitive behaviors. This finding was driven by the association between parental age and the severity of compulsions or rituals. Intelligence and adaptive functioning did not moderate the relationship between parental age and ASD severity. This study extends prior research to show that advanced parental age at birth is associated with the severity as well as the presence of ASD in offspring.

Juror decision-making in cases of rape involving high functioning Autistic persons

Despite a plethora of research examining juror decision-making within cases of rape, very few studies have attempted to examine how the presence of a developmental disorder within a case can impact jurors' decisions. Research shows that individuals diagnosed with Autism Spectrum Disorder (ASD) are sometimes perceived more negatively (i.e. unempathetic) due to stigmatising beliefs associated with ASD. Thus, the present study sought to examine whether individuals with ASD would be treated differently by jurors in court. Using mock-juror paradigms (N = 204) the present study aimed to explore whether the presence of high-functioning Autism Spectrum Disorder (ASD) amongst either the defendant or claimant influenced juror decisions (guilt verdict, confidence in verdict, and believability towards the defendant and claimant) in cases of rape. The presence of ASD amongst either party failed to have an impact on juror decision-making and final guilt verdicts. However, female participants were more likely to believe the complainant than their male counterparts. Implications of the study and directions for future research are discussed.

Employability in autism spectrum disorder (ASD): Job candidate's diagnostic disclosure and asd characteristics and employer's ASD knowledge and social desirability.

Participants assessed the employability of vignette characters whose presentation varied across two dimensions during a job interview: presence of autism spectrum disorder (ASD) characteristics (present, absent) and disclosure of diagnosis (ASD, ADHD, diabetes, or no disclosure). Participants more knowledgeable about ASD had more positive perceptions of vignette characters, particularly when they disclosed an ASD diagnosis and did not show ASD characteristics. Participants high in social desirability perceived vignette characters more positively. Participants expressed the most concern about job candidates showing inflexible adherence to a routine and sensory sensitivity, although such concerns may have been context-dependent due to job expectations. Overall, these results emphasize that employer factors, particularly employer knowledge of ASD and social desirability, significantly affect the perceived employability of job candidates with ASD. (PsycInfo Database Record (c) 2021 APA, all rights reserved).

Cross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism

BackgroundPTEN is a well-established risk gene for autism spectrum disorder (ASD). Yet, little is known about how PTEN mutations and associated molecular processes influence neurobehavioral function in mutation carriers with (PTEN-ASD) and without ASD (PTEN no-ASD). The primary aim of the present study was to examine group differences in peripheral blood-derived PTEN pathway protein levels between PTEN-ASD, PTEN no-ASD, and idiopathic macrocephalic ASD patients (macro-ASD). Secondarily, associations between protein levels and neurobehavioral functions were examined in the full cohort.MethodsPatients were recruited at four tertiary medical centers. Peripheral blood-derived protein levels from canonical PTEN pathways (PI3K/AKT and MAPK/ERK) were analyzed using Western blot analyses blinded to genotype and ASD status. Neurobehavioral measures included standardized assessments of global cognitive ability and multiple neurobehavioral domains. Analysis of variance models examined group differences in demographic, neurobehavioral, and protein measures. Bivariate correlations, structural models, and statistical learning procedures estimated associations between molecular and neurobehavioral variables. To complement patient data, Western blots for downstream proteins were generated to evaluate canonical PTEN pathways in the PTEN-m3m4 mouse model.ResultsParticipants included 61 patients (25 PTEN-ASD, 16 PTEN no-ASD, and 20 macro-ASD). Decreased PTEN and S6 were observed in both PTEN mutation groups. Reductions in MnSOD and increases in P-S6 were observed in ASD groups. Elevated neural P-AKT/AKT and P-S6/S6 from PTEN murine models parallel our patient observations. Patient PTEN and AKT levels were independently associated with global cognitive ability, and p27 expression was associated with frontal sub-cortical functions. As a group, molecular measures added significant predictive value to several neurobehavioral domains over and above PTEN mutation status.LimitationsSample sizes were small, precluding within-group analyses. Protein and neurobehavioral data were limited to a single evaluation. A small number of patients were excluded with invalid protein data, and cognitively impaired patients had missing data on some assessments.ConclusionsSeveral canonical PTEN pathway molecules appear to influence the presence of ASD and modify neurobehavioral function in PTEN mutation patients. Protein assays of the PTEN pathway may be useful for predicting neurobehavioral outcomes in PTEN patients. Future longitudinal analyses are needed to replicate these findings and evaluate within-group relationships between protein and neurobehavioral measures.Trial registrationClinicalTrials.gov Identifier NCT02461446

Are there anthropometric and body composition differences between children with autism spectrum disorder and children with typical development? Analysis by age and spectrum severity in a school population.

This study makes a comparison between the growth status of pre-school and school-age children with autism spectrum disorder and typical development children. Pre-schoolers with autism spectrum disorder were taller than children with typical development. School-age children with autism spectrum disorder were more overweight/obese, had more body fat and a greater waist circumference and waist/height ratio than children with typical development. The presence of autism spectrum disorder and internalizing problems was associated with cardiovascular risk in school-age children.

Patterns of comorbidity and psychopharmacology in adults with intellectual disability and attention deficit hyperactivity disorder: an UK national cross-sectional audit

ABSTRACT Background: Attention-deficit hyperactivity disorder (ADHD) is higher in people with intellectual disability (ID) compared to the general population. Available limited evidence suggests this population has increased psychological problems, diagnostic overshadowing and psychotropic prescribing. This audit Identifies and analyzes real-world characteristics, diagnostic practices, treatment, and management of ADHD in adults with ID. Research Design and Methods: Pooled retrospective case note data for people with ID and ADHD, collected from 30 organizations across the UK, were analyzed. Patients were classified into mild and moderate-profound ID groups. Associated mental health and neurodevelopmental co-morbidity, Demographics, concomitant psychotropics, and mental and behavioral concerns were collected. Group differences were reported using logistic regression models. Results: Of 445 participants, 73% had co-occurring autism spectrum disorder (ASD) and 65% were prescribed ADHD medications. Those on ADHD medication were less likely to be prescribed antipsychotics (p < 0.001) and antidepressants (p < 0.001). Multiple significant differences were found in ADHD medication response between ID groups and those with/without co-morbid ASD but not associated with challenging behavior reduction. Conclusions: High levels of neurodevelopmental and psychiatric comorbidity were found. ID severity and the presence of ASD appear to influence the use of certain psychotropic medications. Appropriate use of ADHD medication appears to reduce psychotropic polypharmacy.

Treating obsessive‐compulsive disorder in the presence of autism spectrum disorders

Obsessive‐compulsive disorder (OCD) is a frequent comorbidity (about 17%) for children and adolescents with autism spectrum disorder (ASD). Despite this, clear modifications and utilization of evidence‐based techniques for the treatment of comorbid OCD have not been widely disseminated; to date, there have been no randomized controlled trials (RCTs) of modifications in OCD treatment for children and adolescents with comorbid ASD and only one RCT for modifications of a targeted OCD treatment in adults with ASD. Adapted approaches to CBT for anxiety in ASD are not always appropriate; indeed, some modified therapies for comorbid anxiety and ASD specifically advise against using those treatments for comorbid OCD. This article seeks to elucidate methods or modifications, founded in evidence‐based principles, for treating OCD in children and adolescents with ASD.