Autistic Patients Research Articles

Increased gene dosage of RFWD2 causes autistic-like behaviors and aberrant synaptic formation and function in mice

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impaired social interactions, communication deficits and repetitive behaviors. A study of autistic human subjects has identified RFWD2 as a susceptibility gene for autism, and autistic patients have 3 copies of the RFWD2 gene. The role of RFWD2 as an E3 ligase in neuronal functions, and its contribution to the pathophysiology of ASD, remain unknown. We generated RFWD2 knockin mice to model the human autistic condition of high gene dosage of RFWD2. We found that heterozygous knockin (Rfwd2+/−) male mice exhibited the core symptoms of autism. Rfwd2+/− male mice showed deficits in social interaction and communication, increased repetitive and anxiety-like behavior, and spatial memory deficits, whereas Rfwd2+/− female mice showed subtle deficits in social communication and spatial memory but were normal in anxiety-like, repetitive, and social behaviors. These autistic-like behaviors in males were accompanied by a reduction in dendritic spine density and abnormal synaptic function on layer II/III pyramidal neurons in the prelimbic area of the medial prefrontal cortex (mPFC), as well as decreased expression of synaptic proteins. Impaired social behaviors in Rfwd2+/− male mice were rescued by the expression of ETV5, one of the major substrates of RFWD2, in the mPFC. These findings indicate an important role of RFWD2 in the pathogenesis of autism.

Assessment of brain-derived neurotrophic factor levels in serum of children with autism spectrum disorders

BackgroundThe autism spectrum disorder (ASD) has no identified biomarker for early detection or for its severity. As for the brain-derived neurotrophic factor (BDNF), it is a crucial neurotropic factor that regulates the plasticity and maturing of neuronal synapses. Accordingly, it might influence how children with autism develop.MethodTo evaluate the BDNF serum levels in autistic children and their relationship with the illness severity as well as with the common drugs received by autistic patients, 60 patients with autism along with another 60 normally developing children were involved in the study. Using the Childhood Autism Rating Scale (CARS), the severity of autism was then evaluated. The ELISA method was used to measure the BDNF level.ResultsIt was seen that the BDNF concentrations were higher in autism patients (P < 0.001). There was also a highly strong positive association between the CARS score and the BDNF (P < 0.001). Using the cut-off value of > 2.8 of BDNF helped to distinguish between well-developing and autistic children, with the aspects of “sensitivity” and “specificity” being 88.3% and 80%, respectively. Moreover, children with autism who received omega-3 had statistically lower levels of BDNF than those who did not take any (P = 0.040).ConclusionThe serum BDNF concentration is higher in autism; this proposes that the BDNF may contribute to the onset or progress of autism. Therefore, it may be used as a noninvasive biomarker for the illness severity because of its greater occurrence in autistic children who have severe social impairment.

Chronic Pain in Autistic Youth: Clinical Prevalence and Reflections on Tailoring Evidence-Based Interventions from an Interdisciplinary Treatment Team.

Though there is growing awareness of the overrepresentation of autistic patients in chronic pain clinics, potential adaptations for the assessment and treatment of chronic pain in this population have not yet been established. To address this gap, a retrospective review of electronic medical records and discussions by an interdisciplinary pain treatment team were summarized to inform potential biopsychosocial factors affecting the presentation, assessment, and treatment of chronic pain in autistic youth. Our sample included a record review of 95 patients receiving treatment in an interdisciplinary outpatient pediatric pain clinic. Results indicated that 9% (n = 9) of the patients presented to the clinic with a prior diagnosis of autism, but an additional 21% (n = 20) were identified as likely meeting criteria for autism based on the clinical assessment of the developmental history, behaviors observed during the clinical encounter(s), and expert clinical judgment, suggesting that the prevalence rate of autism may be closer to 30% in our outpatient pediatric pain clinic. Over half (52%) of the autistic youth presented to the clinic with widespread pain, 60% identified as female, and 6% identified as gender expansive or transgender. Qualitative insights revealed that most of the autistic patients had co-occurring sensory-processing challenges and difficulty in describing their pain, emotions, and somatic experiences and exhibited cognitive inflexibility and social challenges. We summarize our team's clinical reflections on how autism-relevant biopsychosocial vulnerability factors may contribute to the experience of pain in autistic youth and propose treatment targets and adaptations for the assessment and treatment of pain in this population. Finally, we recommend the need for interventions focused on sensorimotor integration, especially for autistic youth, and describe how pain clinics may be particularly helpful for identifying and supporting autistic females, for whom the potential role of autism in pain experiences had not been considered until receiving treatment in our clinic.

The Healing Effect of Music on People with Autism Spectrum Disorder

Now that autism is more common, it is essential to study how to treat autism. Generally speaking, the methods to treat autism include Applied Behavior Aanalysis (ABA), etc., but exploring other ways is essential. The influence of music as a flowing art on people is difficult to estimate. As a new frontier discipline, music therapy is necessary in treating special people. This paper briefly summarizes the effects of sensory processing and music on the emotions and sensory integration of autistic patients, as well as some standard methods of music therapy, and appeals to more people to pay attention to the auxiliary therapeutic effect of music on autistic patients. The paper concluded that collaborations between music therapists, neuroscientists, educators, and caregivers hold the key to harnessing the holistic benefits of music for individuals with autism. By pooling their expertise and insights, we can develop comprehensive programs that harness the therapeutic potential of music and amplify its impact across different dimensions of autism.

Model for autism disorder detection using deep learning

&lt;span lang="EN-US"&gt;Autism spectrum disorder (ASD) is a neurodegenerative illness that impacts individuals' social abilities. The majority of available approaches rely on structural and resting-state functional magnetic resonance imaging (fMRI) to detect ASD with a small dataset, resulting in high accuracy but low generality. To detect ASD with a limited dataset, the bulk of known technologies involve Machine Learning, pattern recognition, and other techniques, leading to high accuracy but moderate generality. To address this constraint and improve the efficacy of the automated autism diagnosis model, an ASD detection model based on deep learning (DL) is provided in this work. The classification challenge is solved using a convolutional neural network classifier. The suggested model beats state-of-the-art methodologies in terms of accuracy, according to simulation findings. The proposed approach investigates how anatomical and functional connectivity indicators can be used to determine whether or not a person is autistic. The proposed method delivers state-of-the-art results, with the classification of Autistic patients achieving 93.41% accuracy and the localization of the classified data regressed to 0.29 mean absolute error (MAE).&lt;/span&gt;

The mast cells - Cytokines axis in Autism Spectrum Disorder

Autism Spectrum Disorder (ASD) is a neurodevelopmental disturbance, diagnosed in early childhood. It is associated with varying degrees of dysfunctional communication and social skills, repetitive and stereotypic behaviors. Regardless of the constant increase in the number of diagnosed patients, there are still no established treatment schemes in global practice. Many children with ASD have allergic symptoms, often in the absence of mast cell (MC) positive tests. Activation of MCs may release molecules related to inflammation and neurotoxicity, which contribute to the pathogenesis of ASD. The aim of the present paper is to enrich the current knowledge regarding the relationship between MCs and ASD by providing PPI network analysis-based data that reveal key molecules and immune pathways associated with MCs in the pathogenesis of autism. Network and enrichment analyzes were performed using receptor information and secreted molecules from activated MCs identified in ASD patients. Our analyses revealed cytokines and key marker molecules for MCs degranulation, molecular pathways of key mediators released during cell degranulation, as well as various receptors. Understanding the relationship between ASD and the activation of MCs, as well as the involved molecules and interactions, is important for elucidating the pathogenesis of ASD and developing effective future treatments for autistic patients by discovering new therapeutic target molecules.

Quantitative Electroencephalography in Children With Autism Spectrum Disorders

The goal of this study is to compare the brain connectivity patterns of autistic patients with those of children who are developing normally and analyzing quantitative electroencephalography in children with autism. The study included 50 children who were developing normally and 60 preschoolers who met the DSM-V criteria for autism spectrum disorder. Routine and quantitative electroencephalography were carried out on each subject, as well as a Childhood Autism Rating Scale. The electroencephalograms of 76.67% of autistic children were normal; 6.67% showed focal changes, and 16.67% showed generalized changes. While the alpha power in the central and temporal areas is significantly lower in autistic children, it is unchanged in the frontal and parieto-occipital regions. Children with autism have significantly higher absolute delta and theta band activity both globally and locally. It was shown that the total and regional absolute delta and theta power activity had a significant positive correlation with the disease severity score. Quantitative electroencephalography is a more effective tool for assessing and diagnosing children with autism spectrum disorder because it shows abnormalities in all autistic children. A correlation exists between the quantitative electroencephalography data and the disease severity score.

Dental problems in children with autism: a 5-year study.

Caries experience of children and complex clinical circumstances are an actual challenge for any healthcare professional. To investigate the early childhood caries (ECC) in autistic and non autistic children (≤4 years of age) evaluating the amount of dental damage and the treatments carried out in both groups. Data regarding the oral health status of 40 patients (≤4 years of age) were assembled. The sample group was constituted of 20 autistic children (12 males with a mean age of 2.5 years and 8 females with a mean age of 3.2 years) whereas 20 patients without the autistic spectrum represented the control group (11 males with a mean age of 3 and 9 females with a mean age of 3.3 years). There were no significant differences between the two groups as regards both the extent of dental damage and the treatments carried out. About the frequency, in the autistic group, the most frequent caries were the white spots and enamel proximal lesions (2.2%), followed by only white spots (1.2%) and brown-black cavities and root stumps (0.6%). In the control group, the brown-black cavities and root stumps represented the most frequent findings (2.2%), followed by white spots and enamel proximal lesions (1.4%) and white spots (0.4%). Regarding the treatments, the most repeated management of dental damage among autistic patients was composite restorations (2.2%) while in nonautistic patients were tooth extractions (2%).

A hybrid CNN-SVM model for enhanced autism diagnosis.

Autism is a representative disorder of pervasive developmental disorder. It exerts influence upon an individual's behavior and performance, potentially co-occurring with other mental illnesses. Consequently, an effective diagnostic approach proves to be invaluable in both therapeutic interventions and the timely provision of medical support. Currently, most scholars' research primarily relies on neuroimaging techniques for auxiliary diagnosis and does not take into account the distinctive features of autism's social impediments. In order to address this deficiency, this paper introduces a novel convolutional neural network-support vector machine model that integrates resting state functional magnetic resonance imaging data with the social responsiveness scale metrics for the diagnostic assessment of autism. We selected 821 subjects containing the social responsiveness scale measure from the publicly available Autism Brain Imaging Data Exchange dataset, including 379 subjects with autism spectrum disorder and 442 typical controls. After preprocessing of fMRI data, we compute the static and dynamic functional connectivity for each subject. Subsequently, convolutional neural networks and attention mechanisms are utilized to extracts their respective features. The extracted features, combined with the social responsiveness scale features, are then employed as novel inputs for the support vector machine to categorize autistic patients and typical controls. The proposed model identifies salient features within the static and dynamic functional connectivity, offering a possible biological foundation for clinical diagnosis. By incorporating the behavioral assessments, the model achieves a remarkable classification accuracy of 94.30%, providing a more reliable support for auxiliary diagnosis.

In a rodent model of autism, probiotics decrease gut leakiness in relation to gene expression of GABA receptors: Emphasize how crucial the gut-brain axis.

Rodent models may help investigations on the possible link between autism spectrum disorder and increased permeability of the gastrointestinal (GI) tract since autistic patients frequently manifested GI troubles as comorbidities. Forty young male western Albino rats, weighing approximately 60-70 g and aged 3-4 weeks, were used. In each of the six experimental groups, eight animals were treated as follows. The mice in the control group (I) received phosphate-buffered saline orally. For 3 days, the animals in the propionic acid (PPA)-treated groups (II and III) were given an oral neurotoxic dose of PPA (250 mg/kg body weight each day). Group II was euthanized after 3 days; however, Group III was left alive to be euthanized alongside the other groups. The animals were kept at 22 ± 1°C and allowed to access water and normal food as needed. Identical dosages of PPA were given to the rats in the three treatment groups (IV, V, and VI), and for 3 weeks, they were given the following treatments: 0.2 g/kg body weight of pure Bifidobacterium infantis, a probiotic mixture of PROTEXIN®, Somerset, UK and pure Lactobacillus bulgaricus, respectively. The six groups underwent measurements of serum zonulin and occludin as variables associated with leaky gut, glutathione, malondialdehyde, and catalase as oxidative stress-related variables, with gamma-aminobutyric acid (GABA) receptor gene expression. This study demonstrated the potential effects of pure or mixed probiotics in lowering zonulin and occludin as markers of increased intestinal permeability, enhancing GABA receptor expression, and reducing oxidative stress as neurotoxic effects of PPA. This study demonstrates that various probiotics protect gut barrier function and could be used to alleviate increased intestinal permeability caused by oxidative stress and impaired GABA signaling as a result of PPA neurotoxicity, addressing the clinical implications of probiotic supplements.

The Assessment of Comprehensive Care for Autistic Children Provided by Polish Primary Healthcare Physicians in Parental View.

Objectives. Important factor in caring for ASD patients is the successful cooperation between the physician and the parent. Methods. The online survey has been conducted. For statistical analysis the t-student test and the U-Mann Whitney test were performed to compare 2 variables, then the Kruskal-Wallis test or ANOVA as well as The Pearson correlation and Sperman's rank correlation were performed. Results. 80.5% of respondent's PHPs did not notice the child's developmental difficulties. 22.02% of respondents can speak to their PHP about a child's difficulties. PHPs take different strategies to make patient contact with the healthcare system easier. We discovered statistically significant differences in the assessment of PHPs' abilities depending on the physicians' specialty, the children's age, the age at ASD diagnosis. Conclusion. The care for autistic patients provided by Polish PHPs is insufficient and the topic needs to be addressed immediately.

Assessing dentistry students' knowledge of clinical dental management for autistic patients: A cross-sectional study at a public university in northeastern Brazil

Assessing dentistry students' knowledge of clinical dental management for autistic patients: A cross-sectional study at a public university in northeastern Brazil

Genetic Instability and Disease Progression of Indian Rett Syndrome Patients.

Rett syndrome (RTT) is the rare neurodevelopmental disorder caused by mutations in methyl CpG binding protein 2 (MECP2) gene with a prevalence of 1:10,000 worldwide. The hallmark clinical features of RTT are developmental delay, microcephaly, repetitive behaviours, gait abnormalities, respiratory abnormalities and seizures. Still, the understanding on the diagnosis of RTT among clinicians are less. The aim of our work was to study various clinical manifestations and a spectrum of MECP2 genetic heterogeneity in RTT patients from South Indian population. We screened 208 autistic patients and diagnosed 20 RTT patients, who were further divided into classical RTT (group I; N = 11) and variant RTT (group II; N = 9). The clinical severity of RTT was measured using RSSS, RSBQ, SSI, SSS and RTT gross motor scale. The biochemical analysis showed that thyroid-stimulating hormone (TSH), plasma dopamine and cholesterol levels were higher in group I when compared to group II, whereas the level of blood pressure, calcium, ferritin and high-density lipoprotein levels were significantly decreased in both RTT groups, when compared to the control group. The genetic mutational spectrum of MECP2 mutations were found in 12/20 of RTT patients, which revealed the occurrence of 60% pathogenic mutation and 20% unknown mutation and it was correlated with the clinical finding of respiratory dysfunction, scoliosis and sleeping problems. The significant results of this study provided clinical and genetic aspects of RTT diagnosis and proposed the clinicians to screen abnormal cholesterol, calcium and TSH levels tailed with MECP2 gene mutations for early prognosis of disease severity.

Using normalization process theory to inform practice: evaluation of a virtual autism training for clinicians.

There is growing demand for developmental and behavioral pediatric services including autism evaluation and care management. Clinician trainings have been found to result in an increase of knowledge and attitudes. This study utilizes Normalization Process theory (NPT) to evaluate a clinician training program and its effects on practice. The year-long virtual training program about autism screening and care management included didactic portions and case presentations. Focus groups and interviews were conducted with primary care clinicians (n = 10) from community health centers (n = 6) across an urban area five months post-training. Transcripts were deductively coded using NPT to uncover barriers to implementation of autism screening and care, benefits of the training program, and areas for future training. Participants were motivated by the benefits of expanding and improving support for autistic patients but noted this effort requires effective collaboration within a complex network of care providers including clinicians, insurance agencies, and therapy providers. Although there were support that participants could provide to families there were still barriers including availability of behavior therapy and insufficient staffing. Overall, participants positively viewed the training and reported implementing new strategies into practice. Despite the small sample size, application of NPT allowed for assessment of both training delivery and implementation of strategies, and identification of recommendations for future training and practice sustainability. Follow-up focus groups explored participants' practice five months post-program. Variations in participants' baseline experience and context at follow-up to enable application of skills should be considered when using NPT to evaluate clinician trainings.

The occurrence and development of autism from the perspective of perceptual ecology

This paper discusses three theoretical models to explain the occurrence and development of autism disorders. The psychological model regards developmental disorders or psychopathological disorders of autistic patients as the manifestation of impaired mental activities, the neurobiological model mainly considers specific brain structure damage and its effect on behavioral dysfunction in autism. The ecological model doesnt directly study the mind or brain, instead it tries to explain the behavior of autistic people by studying their interactions with the environment. This paper will mainly focus on the ecological model of autism, autism is a process in humans life development, people who is suffer from autism, the influences of this disease will along with the entire lifetime, autism is not caused by a moment, but is a life through process. Compared with psychological model and neurobiological model, the ecological model view of autism based on perceptual ecology theory highlights the interaction between individuals and the environment, which indicates that autism can also effect by environment, outside components can consider as triggers of autism as well.

Back to basics: Practical strategies to reduce sensory overstimulation in the emergency department identified by adults and caregivers of children with autism spectrum disorder

IntroductionSensory overstimulation of autistic patients of all ages during an ED visit can ultimately lead to care escalation, but few studies have evaluated patient perspectives on improving the ED sensory experience across the age continuum. The purpose of this study was to explore patient-centered perspectives on reducing adult and pediatric autistic patients’ sensory stimulation during an ED visit. MethodsWe used a qualitative descriptive design to explore how autistic patients experience sensory disruption and recommendations to improve care. Data were analyzed inductively using an overall categorization of 6 senses (visual, auditory, touch, smell, taste, and proprioception). ResultsFourteen adults and 30 caregivers of children provided written responses to open-ended interview questions (n = 44). Participants suggested strategies to minimize the sensory disruption they experienced; however, an overarching recommendation was for clinicians to ask about their or their child’s preferences before delivering care or services. ConclusionBecause people with autism are more likely to visit an ED than their neurotypical counterparts, ED clinicians should be proficient in “sensory-friendly care.” A variety of evidence-based practical strategies and design approaches exist that can be leveraged to reduce the risk of care escalation; however, the most basic may be to prioritize asking patients and their caregivers about their preferences prior to providing care.

Application and Effect of Music Therapy in Autistic Childrens Education

In recent years, as a new therapeutic method, music therapy has attracted more and more attention. It is one of the best therapeutic methods to use music to communicate with autistic children, stabilize their emotions, train their language communication ability, and turn therapy into interest output. Although it has become an intervention method in the treatment of autistic children, it has not been fully utilized and paid attention to in the treatment and education of autistic children in China. By literature review and case studies, this paper mainly studies the application and effect of music therapy in the daily life and education of autistic children, analyzing the condition and life improvement of autistic children after receiving music therapy. At the same time, the author also explains the shortcomings of the current development of music therapy. In conclusion, music therapy is an effective treatment for autism, but its mechanism and treatment modalities need to be further studied for better application in the treatment of autistic patients.

Elucidating the Perspectives of Autistic Youth About Their Health Care Experiences: A Qualitative Study.

Autistic individuals have higher rates of co-occurring medical conditions and service use. However, autistic individuals and their families also reported lower satisfaction with health care service delivery. Previous studies described health care experiences of autistic adults, but less is known about those of autistic adolescents and young adults. This study aimed to qualitatively describe the health care experiences of autistic youth. Four longitudinal/serial focus groups were conducted with 8 autistic adolescents and young adults. Participants were members of an autistic patient advisory board, which is part of a broader initiative at a large, urban, safety-net hospital to improve the health care experiences of autistic patients. Focus groups were conducted virtually and were audio-recorded. Audio recordings were transcribed and verified for accuracy. Transcripts were consensus-coded with an inductive approach using tenets of grounded theory. Findings included 4 recurring themes: accessibility and accommodations, barriers of health service use, patient involvement in health care decisions, and facilitators of patient-clinician relationship. Participants noted that visit preparation, sensory items, and repeated positive interactions with clinician were helpful to build a positive health care experience. Our findings support previous research that suggest the need to individualize care, ensure availability of accommodations, apply flexibility in practice whenever possible, and increase health care professional knowledge about this unique patient population.

The utility of volumetric MRI in assessment of volume changes in ventral diencephalon in autistic children

BackgroundAutism spectrum disorder (ASD) is a neurobehavioural disorder, characterized by abnormal affiliative and socio-emotional responses which are generally regulated by certain neuropeptides in the hypothalamus (an anatomic component of the ventral diencephalon (VD)). The use of volumetric MRI for studying VD volume change could provide a novel approach for identification of structural brain changes in ASD; this could assist in understanding the pathophysiology of ASD and would reflect on treatment strategies. The aim of the current work was to investigate the role of MRI volumetric analysis of the ventral diencephalon in young children diagnosed with autism spectrum disorder.MethodsFifty children diagnosed with ASD underwent volumetric brain analysis, on a fully automated MRI brain volumetry system (volBrain), with voxel-based morphometry of various segmental structures of the brain including the VD, using vol2Brain 1.0 pipeline software analysis suite.ResultsThere were 48 out of 50 children who demonstrated abnormal VD volume which was found below the normal limits compared with reference standard normalized volume. All cases were normocephalic demonstrating normal intra-cranial cavity volumes. Forty out of fifty cases showed increased total volume of grey matter, and eighteen out of fifty cases showed increased total volume of white matter. Regarding the amygdala and hippocampus, there were only two cases (4.0%) which showed slightly increased relative volume of the total amygdala, and two other cases (4.0%) demonstrated increased relative volume of the total hippocampus. Comparison between the autistic patients and normal references revealed a significant difference regarding the VD volume and total volume of grey matter, whereas no significant differences were found regarding the white matter amygdala and hippocampus.ConclusionsBased on the consistent significant volume decrease in the ventral diencephalon in patients with childhood autism, this study concluded that volumetric MRI analysis could be useful for diagnosis of childhood spectrum disorder and could be utilized as a reliable screening method in the clinically vague cases. Further study with a larger sample size including more age groups is recommended for more validation of the results.

Current evidences of therapeutic effects of sulforaphane on oral and intestinal microbiota in Autism Spectrum Disorder – ASD

Growing evidence suggests that the Sulforaphane promising agent against oxidative stress related to Autism Spectrum Disorder (ASD), can reduce signs and symptoms like impaired communication and socialization, stereotyped behaviour and neurodevelopmental abnormalities. The oral and intestinal microbiota is extremely important, when out of balance, is one of the main causes of various desordens in the human organism. Broccoli is one of the functional foods most investigated by science. It contains Sulforaphane, an isothiocyanate with great antioxidant and anti-inflammatory capacity; with studies focusing on neurodegenerative and neurodevelopmental diseases. The bibliographic survey was carried out on the Pubmed platform, between 2013 and 2023, in informations provided for Ministério da Saúde – Brasil and in nutrition books. This is a systematic review on Sulforaphane supplementation for people with ASD and its implications for controlling the symptoms that most affect this population, opens a new avenue for managing autistic patients through non-pharmacological intervention.