Recognition Of Autism Spectrum Disorder Research Articles

Autism spectrum disorders and the gastrointestinal tract: insights into mechanisms and clinical relevance.

Autism spectrum disorders (ASDs) are recognized as central neurodevelopmental disorders diagnosed by impairments in social interactions, communication and repetitive behaviours. The recognition of ASD as a central nervous system (CNS)-mediated neurobehavioural disorder has led most of the research in ASD to be focused on the CNS. However, gastrointestinal function is also likely to be affected owing to the neural mechanistic nature of ASD and the nervous system in the gastrointestinal tract (enteric nervous system). Thus, it is unsurprising that gastrointestinal disorders, particularly constipation, diarrhoea and abdominal pain, are highly comorbid in individuals with ASD. Gastrointestinal problems have also been repeatedly associated with increased severity of the core symptoms diagnostic of ASD and other centrally mediated comorbid conditions, including psychiatric issues, irritability, rigid-compulsive behaviours and aggression. Despite the high prevalence of gastrointestinal dysfunction in ASD and its associated behavioural comorbidities, the specific links between these two conditions have not been clearly delineated, and current data linking ASD to gastrointestinal dysfunction have not been extensively reviewed. This Review outlines the established and emerging clinical and preclinical evidence that emphasizes the gut as a novel mechanistic and potential therapeutic target for individuals with ASD.

Loose ends in the differential diagnosis of IBS-like symptoms.

Two thirds of the patients we believed to have IBS in the 1970's have since been possible to diagnose with treatable conditions like bile acid diarrhea, inflammatory bowel disease, microscopic colitis, celiac disease, disaccharide malabsorption, exocrine pancreatic insufficiency, or rare genetic variants. Despite advances in diagnostic techniques a substantial proportion of patients continue suffering from IBS-like symptoms that cannot be explained by current knowledge. Although it is likely that further research will reveal small but important subgroups of patients with treatable mechanisms for IBS-like symptoms, we propose that only two large groups remain for being addressed in the clinic: those with connective tissue disorders such as Ehlers-Danlos syndrome or hypermobility spectrum disorders and those with autism spectrum disorders. Patients with connective tissue disorders exhibit identifiable disturbances of gut motor function and possibly increased gut permeability as underlying mechanisms for IBS-like symptoms. Autism spectrum disorders pose a much more difficult problem in the clinic. Disturbances of perception combined with anxiety and excessive worry about signals from the gut can lead to an endless but futile search for something being wrong. The search can involve large numbers of care givers, no one understanding the patient's suffering. Others may try to change their diet to lessen symptoms, only to find that almost all foods may cause worrying perceptions from the gut. Early recognition of autism spectrum disorders is essential for finding better ways to help patients with gastrointestinal and, as is often the case, extraintestinal symptoms.

Recognition of autism spectrum disorder in children based on electroencephalogram network topology.

Although our knowledge of autism spectrum disorder (ASD) has been deepened, the accurate diagnosis of ASD from normal individuals is still left behind. In this study, we proposed to apply the spatial pattern of the network topology (SPN) to identify children with ASD from normal ones. Based on two independent batches of electroencephalogram datasets collected separately, the accurate recognition of ASD from normal children was achieved by applying the proposed SPN features. Since decreased long-range connectivity was identified for children with ASD, the SPN features extracted from the distinctive topological architecture between two groups in the first dataset were used to validate the capacity of SPN in classifying ASD, and the SPN features achieved the highest accuracy of 92.31%, which outperformed the other features e.g., power spectrum density (84.62%), network properties (76.92%), and sample entropy (73.08%). Moreover, within the second dataset, by using the model trained in the first dataset, the SPN also acquired the highest sensitivity in recognizing ASD, when compared to the other features. These results consistently illustrated that the functional brain network, especially the intrinsic spatial network topology, might be the potential biomarker for the diagnosis of ASD.

Delayed recognition of autism spectrum disorder and attention-deficit/hyperactivity disorder in a girl with ornithine transcarbamylase deficiency: A case report

Ornithine transcarbamylase (OTC) deficiency, a urea cycle disorder, is a rare congenital metabolic error that leads to hyperammonemia. Psychiatric symptoms of hyperammonemia are nonspecific and can cause autism spectrum disorder (ASD)-like symptoms and attention-deficit/hyperactivity disorder (ADHD)-like symptoms. Some studies report that OTC deficiency is often initially diagnosed as ASD or ADHD. However, there are no reports of OTC deficiency comorbid with ASD and ADHD. The patient is 17-year-old girl diagnosed with OTC deficiency at 3 years of age. She had behavioral problems since childhood, including depressed mood, irritability, and impulsive behavior; however, they were considered OTC-mediated nonspecific psychiatric symptoms. Therefore, the patient had not been appropriately assessed for ASD and ADHD. She presented with depressed mood and self-harm at 17 years of age. We diagnosed her with ASD and ADHD based on her medical history and semistructured interviews. We focused her ASD and ADHD traits and discussed strategies with her for better adaptive living. Our interventions resulted in her better social adjustment. Physicians should consider the possibility of comorbid ASD and ADHD in individuals with OTC, facilitating appropriate and intervention for better outcomes.

Autism Spectrum Disorder in the Dominican Republic: A Mini Review of the Current Situation.

As the recognition of autism spectrum disorder (ASD) increases, and the prevalence estimates of ASD continue to rise throughout the world, it has become apparent that access to diagnostic and treatment services is highly dependent on geography. Even within countries such as the United States, which has received significant interest and investment in understanding, diagnosing, treating, and providing programs for those with ASD over the last 20+ years, access to information and services is uneven. In poorer countries such as the Dominican Republic (DR), where >40% of citizens live below the poverty level and access to quality healthcare overall continues to be a challenge, issues associated with ASD are not yet being adequately addressed. The objective of this review is to provide a realistic synopsis of the resources currently available to Dominicans who have a family member or loved one with ASD. We examine the challenges these families face in finding care, the stigma associated with ASD, and programs available for people with ASD. We conclude that while the DR is making progress in its efforts to address ASD, there is still much work to be done.

Ondersteuning van oudere partners van mensen met ASS

Th e Dutch Guideline Autism states that besides support for clients with autism spectrum disorder (ASD) their next of kin also need support in their need for knowledge, ways to cope with the client and to take good emotional care of themselves. Besides support for clients, we offer a group module for partners. This module was developed by the Dutch Organization for Autism and the department autism of the mental health institution in Eindhoven, the Netherlands, and has been adjusted for elderly patients. We explored the effects of the partner module in a pre-post-follow-up design. After participating the partners reported more knowledge on ASD, better recognition of ASD in their partner, recognition in other partners, less psychiatric distress and improvement in self-esteem. An adjustment of the module is proposed in the discussion.

Resting-State Functional MRI Adaptation with Attention Graph Convolution Network for Brain Disorder Identification.

Multi-site resting-state functional magnetic resonance imaging (rs-fMRI) data can facilitate learning-based approaches to train reliable models on more data. However, significant data heterogeneity between imaging sites, caused by different scanners or protocols, can negatively impact the generalization ability of learned models. In addition, previous studies have shown that graph convolution neural networks (GCNs) are effective in mining fMRI biomarkers. However, they generally ignore the potentially different contributions of brain regions- of-interest (ROIs) to automated disease diagnosis/prognosis. In this work, we propose a multi-site rs-fMRI adaptation framework with attention GCN (A2GCN) for brain disorder identification. Specifically, the proposed A2GCN consists of three major components: (1) a node representation learning module based on GCN to extract rs-fMRI features from functional connectivity networks, (2) a node attention mechanism module to capture the contributions of ROIs, and (3) a domain adaptation module to alleviate the differences in data distribution between sites through the constraint of mean absolute error and covariance. The A2GCN not only reduces data heterogeneity across sites, but also improves the interpretability of the learning algorithm by exploring important ROIs. Experimental results on the public ABIDE database demonstrate that our method achieves remarkable performance in fMRI-based recognition of autism spectrum disorders.

Still too much delay in recognition of autism spectrum disorder.

Still too much delay in recognition of autism spectrum disorder.

Eye gaze as a biomarker in the recognition of autism spectrum disorder using virtual reality and machine learning: A proof of concept for diagnosis.

The core symptoms of autism spectrum disorder (ASD) mainly relate to social communication and interactions. ASD assessment involves expert observations in neutral settings, which introduces limitations and biases related to lack of objectivity and does not capture performance in real-world settings. To overcome these limitations, advances in technologies (e.g., virtual reality) and sensors (e.g., eye-tracking tools) have been used to create realistic simulated environments and track eye movements, enriching assessments with more objective data than can be obtained via traditional measures. This study aimed to distinguish between autistic and typically developing children using visual attention behaviors through an eye-tracking paradigm in a virtual environment as a measure of attunement to and extraction of socially relevant information. The 55 children participated. Autistic children presented a higher number of frames, both overall and per scenario, and showed higher visual preferences for adults over children, as well as specific preferences for adults' rather than children's faces on which looked more at bodies. A set of multivariate supervised machine learning models were developed using recursive feature selection to recognize ASD based on extracted eye gaze features. The models achieved up to 86% accuracy (sensitivity=91%) in recognizing autistic children. Our results should be taken as preliminary due to the relatively small sample size and the lack of an external replication dataset. However, to our knowledge, this constitutes a first proof of concept in the combined use of virtual reality, eye-tracking tools, and machine learning for ASD recognition. LAY SUMMARY: Core symptoms in children with ASD involve social communication and interaction. ASD assessment includes expert observations in neutral settings, which show limitations and biases related to lack of objectivity and do not capture performance in real settings. To overcome these limitations, this work aimed to distinguish between autistic and typically developing children in visual attention behaviors through an eye-tracking paradigm in a virtual environment as a measure of attunement to, and extraction of, socially relevant information.

Educational classifications of autism spectrum disorder and intellectual disability among school-aged children in North Carolina: Associations with race, rurality, and resource availability.

Disparities exist in the recognition of autism spectrum disorder (ASD) and intellectual disability (ID) in racial/ethnic minorities in the United States. This study examined whether rurality, race/ethnicity, and low resource availability are associated with disparities in primary educational classifications of ASD and ID in North Carolina (NC). Descriptive maps were created. Multilevel logistic regression models examined two separate outcomes (mild ID vs. ASD; moderate/severe ID vs. ASD). For the interaction term included in the model (race/ethnicity and residence), predicted probabilities were estimated and plotted. The effects of other covariates were also estimated. Rural counties had fewer students with ASD and a greater number of students with ID compared to urban counties. The majority of students with ASD were non-Hispanic Whites, while the majority of students with ID were non-Hispanic Blacks. Compared to non-Hispanic White students, non-Hispanic Black students were overrepresented in the ID classification and underrepresented in the ASD classification across urban and rural areas. Indicators of low resource availability were also associated with higher probabilities of ID vs. ASD classification. Differences in primary educational classification based on urban-rural divide, race/ethnicity, and resource availability are important to understand as they may point to disparities that could have significant policy and service implications. Because disparities manifest through complex interactions between environmental, socioeconomic and system-level factors, reduction in these disparities will require broader approaches that address structural determinants. Future research should utilize disparity frameworks to understand differences in primary educational classifications of ASD and ID in the context of race/ethnicity and rurality. LAY SUMMARY: Rural counties in North Carolina had fewer students with ASD and a greater number of students with ID compared to urban counties. Compared to non-Hispanic White students, non-Hispanic Black students were over-represented in the ID educational classification and underrepresented in the ASD classification. Differences in classification of ASD and ID based on urban-rural divide, race/ethnicity, and resource availability may point to disparities that could have significant policy and service implications. Autism Res 2021, 14: 1046-1060. © 2021 International Society for Autism Research, Wiley Periodicals LLC.

The diagnostic value of congenital and nevoid cutaneous lesions associated with autism spectrum disorders in indian children-A case-control study

Background and Aims:Cutaneous lesions are the defining features of several neurocutaneous syndromes like neurofibromatosis1(NF1), tuberous sclerosis complex (TSC), and Sturge Weber syndrome to name a few. With this background, we explored the possibility of identifying congenital and nevoid cutaneous markers that may help in the early recognition of autism spectrum disorders (ASD) in Indian children. The objective of this study was to measure the strength of association between congenital and nevoid cutaneous lesions and ASD among Indian children.Methods:A case-control study was conducted from January 2018 to June 2018. 132 children (18 months-16 years of age) with ASD and equal number of age and sex-matched children without autism were studied. Diagnosis of ASD was based on DSM-5 criteria. All the children were examined for cutaneous lesions with special attention to nevoid and congenital conditions. The strength of association was measured using the diagnostic odds ratio (OR).Results:The prevalence of congenital and nevoid lesions were higher in ASD group (OR = 3.12, P = 0.0001). Among them, pigmentary mosaicism of hyperpigmented type (OR = 2.76, P = 0.02) and café-au-lait macules (CALMs) (OR = 2.40, P = 0.001) were the most prevalent with hyperpigmented pigmentary mosaicism showing a higher association with autism. Atypical CALMs (OR = 2, P = 0.09) were also more prevalent in the ASD group though not statistically significant.Conclusion:The presence of hyperpigmented pigmentary mosaicism and CALMs warrant closer surveillance by the caregivers and physicians for evolving features of autism. Larger multicentric studies are required to validate these findings.

Recognition of autism spectrum disorder based on face processing abnormality

Autism spectrum disorder (ASD), a highly complex neurodevelopmental disorder with complicated causes and processes, has core symptoms including impairment of social interaction, narrow interests, and repetitive stereotypical behaviors. Many methods have been applied to the early diagnosis of ASD, one of which is eye-tracking technology. Faces are important social stimuli, and face processing is very important for social interaction. Eye movements during face processing are a source of information which can reveal characteristics of neural development. We here study eye movements during the processing of different types of faces in autistic children. We use machine learning on eye movement information to automatically identify ASD. We recruited a total of 81 children aged 3 to 6 years (40 ASD, 41 age- and gender-matched typically-developing controls) to look at faces of strangers from foreign races, faces of strangers from the children’s own race, and faces of familiar people from the children’s own race. We quantized eye-fixation coordinates using K-means, partitioning face images into K =64 different cell-like regions (areas of interest). We then used the fixation coordinate frequency distribution as features, along with the minimal redundancy and maximal relevance (mRMR) method for feature selection and support vector machines (SVM) for classification of ASD versus control. Results showed that maximum classification accuracies based on foreign face, own-race stranger face, and familiar face respectively reached 78.89% (sensitivity 81.67%, specificity 74.00%), 73.89% (sensitivity 70.88%, specificity 76.38%), and 79.44% (sensitivity 82.67%, specificity 79.71%). The areas under the receiver operating characteristic curves (AUC) were 0.8065, 0.8217, and 0.8387, respectively. Then, we combined features from the three types of faces to obtain a total of 192 features and used the mRMR method, selecting 27 features. With these features, the maximum classification accuracy reached 90.28% (sensitivity 91.33%, specificity 86.83%), and the AUC was 0.9317. Independent sample t -tests showed that, compared with controls, ASD children had atypical facial scanning. In particular, ASD children paid less attention to some areas around the eyes of foreign faces, while gazes on unfamiliar faces focused more on the body and background. In summary, our results show that face scanning characteristics are feasible for classifying ASD versus typically developing children, implying that eye-tracking technology combined with machine learning can provide auxiliary evaluation indices for clinical diagnosis of ASD.

Diagnosis of Autism Spectrum Disorder in Adolescents with Complex Clinical Presentations: A Montreal Case Series

Background: Despite increased attention and recognition of autism spectrum disorders, many patients suffering from these disorders remain undiagnosed or are diagnosed late due to their subtle clinical presentation. The challenge for clinicians working in the field of mental health is not in screening and diagnosing young children showing typical signs of autism spectrum disorders, but rather in identifying patients at the high-functioning end of the spectrum whose intellectual abilities mask their social deficits. Objective: Because therapeutic interventions differ radically once the diagnosis of ASD has been made, it is important to understand the trajectory of those adolescents and identify clues that could help raise the diagnosis of ASD earlier. Methods: Records of eight adolescents with a late diagnosis of ASD were retrospectively reviewed to identify relevant clinical features that were overlooked in childhood and early adolescence. Results: The patients were previously misdiagnosed with multiple mental health disorders. These cases showed striking similarities in terms of developmental history, reasons for misdiagnosis, and the clinical picture at the time of ASD recognition. The cases were characterized by complex and fluctuating symptomatology, including depression, anxiety, behavioural problems, self-injurious behaviour and suicidal thoughts. Their Autism Spectrum Disorder (ASD) went previously undiagnosed due to the individual’s intelligence and learning abilities, which masked their social deficits and developmental irregularities. Signs of ASD were continuously present since childhood in all the eight cases. Once the developmental histories and the psychiatric evaluation of these adolescents were done by psychiatrists with appropriate knowledge of autism, the diagnosis of ASD was made. Conclusion: The ASD hypothesis should be raised in the presence of confusing symptoms that do not respond to usual treatment and are accompanied by an irregular developmental background. It is indeed a difficult diagnosis to make; however, the focused clinician can note subtle signs of ASD despite the intellectual learning of social codes. Family history, developmental irregularities, rigidity, difficulty in spontaneously understanding emotions, discomfort in groups and the need to be alone are significant indicators to recognize. Once the diagnosis has been considered, it must be confirmed or rejected by an experienced multidisciplinary team. The challenge for clinicians working in the field of mental health is not in screening and diagnosing young children showing typical signs of ASD, but rather in identifying patients who are at high-functioning end of the spectrum whose intellectual abilities mask their social deficits.

Mental Health Literacy of Autism Spectrum Disorder in Korea: Recognition, Etiology, Treatment.

ObjectiveThe objective of this study was to investigate the Korean public’s recognition of autism spectrum disorder (ASD), revealing underlying factors regarding perception relative to etiology and treatment of ASD, and examining variables related to those factors. MethodsAn online survey was held to investigate mental health literacy (MHL) on ASD of the general public in Korea. A total of 673 adults participated and completed questionnaires on socio-demographic characteristics and if they know someone with ASD. Next, participants were provided with a vignette describing a child with ASD. Only those that recognized there was a problem with the child moved to the next part which asked their perception regarding etiology and treatment of ASD. ResultsAccording to our study, approximately 25% of participants correctly recognized the child in the vignette as having ASD. Perception regarding etiology and treatment of ASD varied among socio-demographic characteristics. Participants acquainted with someone with ASD and correctly recognized ASD held mixed perception regarding cause and treatment. ConclusionThis study investigated MHL of ASD in Korea. The result reveals there is much room for improvement relative to raising awareness on MHL of ASD. Intervention considering socio-demographic characteristics and acquaintance with ASD are needed.

Isolated Congenital Alacrima in a Child with Autism Spectrum Disorder

Isolated congenital absence of lacrimal glands is a very rare condition in children, only few cases were reported so far. Its symptoms can be quite variable depending on the other associated factors like absence of accessary lacrimal glands and/or salivary glands. Children with isolated absence of lacrimal gland can have normal tear film but lack tear production upon emotional stimuli. Although, alacrima can be a part of other rare syndromes, isolated absence has never been reported in the literature in association with autism spectrum disorder. In this article we present a case of alacrima with autism spectrum disorder, never reported in the literature to our knowledge. With increasing recognition of autism spectrum disorder, it is important to report common and rare association of other clinical co-morbidities as this may influence the initial presentation posing diagnostic challenges to the diagnosticians. In this case the lack of tears with the emotional stimuli was considered exclusively caused by the lack of social-emotional reciprocity, which is one of the core symptoms of autism spectrum disorder.

보육교사의 영유아 자폐스펙트럼장애 인식에 관한 연구: 포커스 그룹 인터뷰(FGI)를 중심으로

보육교사의 영유아 자폐스펙트럼장애 인식에 관한 연구: 포커스 그룹 인터뷰(FGI)를 중심으로

Dépistage précoce des troubles du spectre autistique : symptômes émergents et bio-marqueurs

Early recognition of Autism Spectrum Disorders (ASD) in patients before the age of 24 months significantly enhances the prognosis of affected children. That's why researchers try to identify behavioral and/or neurophysiological precursors in the first months of life of children. Prospective studies are specifically performed in infant siblings at risk of ASD. The longitudinal high-risk sibling studies of ASD follow a cohort of children with an older sibling already diagnosed with ASD. Of these, 10-20% will be diagnosed with ASD during their third year. This review aims to summarize the clinical and neurophysiological studies investigating early markers associated with the emergence of autistic symptoms in children.

Gender ratio in a clinical population sample, age of diagnosis and duration of assessment in children and adults with autism spectrum disorder.

This article reports on gender ratio, age of diagnosis and the duration of assessment procedures in autism spectrum disorder diagnosis in a national study which included all types of clinical services for children and adults. Findings are reported from a retrospective case note analysis undertaken with a representative sample of 150 Scottish children and adults recently diagnosed with autism spectrum disorder. The study reports key findings that the gender ratio in this consecutively referred cohort is lower than anticipated in some age groups and reduces with increasing age. The gender ratio in children, together with the significant difference in the mean age of referral and diagnosis for girls compared to boys, adds evidence of delayed recognition of autism spectrum disorder in younger girls. There was no significant difference in duration of assessment for males and females suggesting that delays in diagnosis of females occur prior to referral for assessment. Implications for practice and research are considered.

Recognition of Autism Spectrum Disorder (ASD) symptoms and knowledge about some other aspects of ASD among final year medical students in Nigeria, Sub-Saharan Africa.

Background Earlier studies suggest that knowledge about Autism Spectrum Disorder (ASD) among healthcare workers in Nigeria is low. This present study assessed the knowledge of Nigerian final year medical students about symptoms of ASD and some other aspects of ASD. This is a cross sectional descriptive study that drew a total of seven hundred and fifty-seven (757) final year medical students from ten (10) randomly selected fully accredited medical schools out of a total of twenty-seven (27) fully accredited medical schools in Nigeria. Sociodemographic and Knowledge about Childhood Autism among Health Workers (KCAHW) questionnaires were used to assess knowledge of final year medical students about ASD and obtain demographic information.ResultsOnly few, 218 (28.8 %) of the 757 final year medical students had seen and participated in evaluation and management of at least a child with ASD during their clinical postings in pediatrics and psychiatry. Knowledge and recognition of symptoms of ASD is observed to be better among this group of final year medical students as shown by higher mean scores in the four domains of KCAHW questionnaire. Knowledge about ASD varies across gender and regions. Misconceptions about ASD were also observed among the final year medical students.ConclusionsMore focus needs to be given to ASD in the curriculum of Nigerian undergraduate medical students, especially during their psychiatry and pediatric clinical postings.Electronic supplementary materialThe online version of this article (doi:10.1186/s13104-015-1433-0) contains supplementary material, which is available to authorized users.

Autism awareness and attitudes towards treatment in caregivers of children aged 3–6 years in Harbin, China

To (1) estimate the proportion of people in the community who could correctly recognize autism spectrum disorders (ASD); (2) describe the attitudes towards various treatments for ASD; and (3) identify factors associated with ASD recognition. A population-based cross-sectional survey was conducted in Harbin, China (n=4,947). We estimated the proportions of participants who were at different levels of knowledge about ASD and of their attitudes towards mental health service use. Multivariate logistic regression modeling was used to identify factors associated with the recognition of ASD. Overall, 2,786 (57.8%) of the respondents could recognize the ASD. Recognition of autism depended on gender, residing areas, age and educational levels. With respect to the attitudes towards mental health service use for ASD, 4,007 respondents (84.6%) chose to visit a health organization for treatment; 2,470 (68.2%) made the choice of consulting a psychotherapist. There is a large room for improvement in awareness about ASD and treatment in the Chinese communities. Insufficient knowledge about ASD and inappropriate attitudes towards mental health service use may impede the efforts of early identification and intervention. Health education and promotion are needed to improve people's knowledge about ASD and available mental health services.