Autism Spectrum Disorder Severity Research Articles

EEG findings and clinical severity and quality of life in non-epileptic patients with autism spectrum disorders

ABSTRACT Electroencephalogram (EEG) abnormalities could be seen in up to 60% of non-epileptic children with autism spectrum disorder (ASD). They have been used as biomarkers of ASD severity. The objective of our study is to identify EEG abnormalities in children with different degrees of ASD severity based on the Autism Treatment Evaluation Checklist (ATEC). We also want to assess the quality of life for children with ASD. All of the children underwent at least one hour of sleep-deprived EEG. Forty-five children were enrolled, of whom 42 were male. EEG abnormalities were found in 10 (22.2%) children, predominantly in the bilateral frontal areas. There were no differences in EEG findings among the mild, moderate, and severe ASD groups. The severity of ASD was associated with female sex (p-value = 0.013), ASD with attention deficit hyperactivity disorder (ADHD) (p-value = 0.032), ASD children taking medications (p-value = 0.048), and a lower Pediatric Quality of Life Inventory (PedsQL) (p-value <0.001). Social and emotional domains were the most problematic for health-related quality of life in ASD children, according to parent reports of PedsQL. Further studies with a larger sample size will help to clarify the potential associations between EEG abnormalities and the severity of ASD, as well as the impact on quality of life.

Clinical and Family Implications of Cannabidiol (CBD)-Dominant Full-Spectrum Phytocannabinoid Extract in Children and Adolescents with Moderate to Severe Non-Syndromic Autism Spectrum Disorder (ASD): An Observational Study on Neurobehavioral Management

Clinical and Family Implications of Cannabidiol (CBD)-Dominant Full-Spectrum Phytocannabinoid Extract in Children and Adolescents with Moderate to Severe Non-Syndromic Autism Spectrum Disorder (ASD): An Observational Study on Neurobehavioral Management

Short tandem repeat expansions in cortical layer-specific genes implicate in phenotypic severity and adaptability of autism spectrum disorder.

Short tandem repeats (STRs) are repetitive DNA sequences and highly mutable in various human disorders. While the involvement of STRs in various genetic disorders has been extensively studied, their role in autism spectrum disorder (ASD) remains largely unexplored. In this study, we aimed to investigate genetic association of STR expansions with ASD using whole genome sequencing (WGS) and identify risk loci associated with ASD phenotypes. We analyzed WGS data of 634 ASD families and performed genome-wide evaluation for 12,929 STR loci. We found rare STR expansions that exceeded normal repeat lengths in autism cases compared to unaffected controls. By integrating single cell RNA and ATAC sequencing datasets of human postmortem brains, we prioritized STR loci in genes specifically expressed in cortical development stages. A deep learning method was used to predict functionality of ASD-associated STR loci. In ASD cases, rare STR expansions predominantly occurred in early cortical layer-specific genes involved in neurodevelopment, highlighting the cellular specificity of STR-associated genes in ASD risk. Leveraging deep learning prediction models, we demonstrated that these STR expansions disrupted the regulatory activity of enhancers and promoters, suggesting a potential mechanism through which they contribute to ASD pathogenesis. We found that individuals with ASD-associated STR expansions exhibited more severe ASD phenotypes and diminished adaptability compared to non-carriers. Short tandem repeat expansions in cortical layer-specific genes are associated with ASD and could potentially be a risk genetic factor for ASD. Our study is the first to show evidence of STR expansion associated with ASD in an under-investigated population.

Sex-Based Asymmetry in the Association between Challenging Behaviours and Five Anxiety Disorders in Autistic Youth

The presence of sex-based asymmetry in the behaviours of youths with Autism Spectrum Disorder (ASD) is currently under research scrutiny. ASD is characterised by challenging behaviour (CB) and is often accompanied by anxiety, both of which often exacerbate social interaction difficulties. The present study examined the presence of sex-based asymmetry in the prevalence of CB and anxiety and in the association between CB and anxiety in a sample including 32 male autistic youths (M age = 10.09, SD = 3.83, range = 6–18 yr) and 32 female autistic youths (M age = 10.31, SD = 2.57, range = 6–15 yr) matched for age, IQ, and ASD severity (p &gt; .101). While the prevalence and severity of behavioural characteristics across males and females with ASD were similar (p = .767), representing symmetry, there was asymmetry in the ways that CBs and anxiety were associated with each other across the two sexes. Specifically, there were 3 instances of symmetry (r &gt; .3, p &lt; .05)), but there were also 10 occurrences of sex-based asymmetry (r &lt; .3, p &gt; .05) in the association between five aspects of CB and five anxiety disorders. These findings emphasise the underlying sex-based symmetry in the prevalence of ASD-related behaviours, also highlighting unique sex-based asymmetry in the association between CBs and anxiety in autistic youths.

A comparison of visual attention to pictures in the Autism Diagnostic Observation Schedule in children and adolescents with ADHD and/or autism.

Attention-Deficit/Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD) are neurodevelopmental conditions which frequently co-occur. The Autism Diagnostic Observation Schedule (ADOS) is commonly used to aid with diagnostic assessment of ASD but was not originally designed for use in those with comorbid ADHD. Visual attention to social stimuli has been often studied in ASD using eye-tracking, to obtain quantitative indices of how attention is deployed to different parts of a social image/scene. As the ADOS includes tasks that rely on attending to and processing images of social scenes, these measures of visual attention could provide useful additional objective measurement alongside ADOS scores to enhance the characterisation of autistic symptoms in those with ADHD. Children with ASD, comorbid ASD and ADHD, ADHD and Neurotypical (NT) controls were recruited (n=84). Visual attention was measured using eye-tracking during free viewing of social scenes selected from the ADOS. The full ADOS was then administered. Stimulant medication was temporarily withdrawn during this assessment. Research diagnoses were based on the Development and Wellbeing Assessment (DAWBA), ADOS, Social Communication Questionnaire (SCQ, a measure of ASD severity) and Conners' Rating Scales (CRS-3, a measure of ADHD severity) following clinical consensus. Using factorial ANOVAs to model ADHD, Autism and their interaction, we found that fixation duration to faces was reduced in those with ASD (ASD and ASD+ADHD) compared to those without ASD (ADHD and NT). Reduced visual attention to faces in the whole sample was associated with Autism symptom severity (SCQ subscale scores) but not ADHD symptom severity (CRS-3 scores). Our findings provide preliminary evidence in support of implementing visual attention measurement during assessment of ASD in the context of comorbidity with ADHD. For example, if a child with ADHD was found to reduce attention to faces in ADOS pictures this may suggest additive difficulties on the autism spectrum. Replication across a larger sample would be informative. This work has future potential in the clinic to help with complex cases, including those with co-occurring ADHD and ASD.

Using a visual support package to facilitate independent leisure engagement and choice-making for individuals with moderate to severe autism in Taiwan.

Self-determination encompasses various components, including decision-making and independence, making it a complex process. While the importance of self-determination for individuals with autism spectrum disorder has been explored in previous studies, there is limited research focusing on individuals with moderate to severe autism spectrum disorder. Evidence-based practices such as visual activity schedules and video modeling have shown effectiveness in promoting independence among individuals with autism spectrum disorder. To address the need for independence and choice-making among individuals with moderate to severe autism spectrum disorder, this study developed a visual support package incorporating visual activity schedules, video modeling, preference assessments, and prompt procedures. By investigating the intervention's effectiveness in three participants, this study contributes to the existing literature on the use of a visual activity schedule and video modeling in enhancing choice-making and independent leisure engagement. Following the intervention, all participants were able to select three leisure activities, develop their own visual schedules, and complete them. Notably, this study conducted preference assessments to determine participants' preferred leisure activities and did not provide additional reinforcement. Practical implications of this research include incorporating video prompting as needed and adjusting activity engagement time. Future research should explore the long-term effectiveness of the visual support package and its application in developing novel skills or vocational activities for individuals with moderate to severe autism spectrum disorder. This study fills a critical gap in the literature, providing important insights for practices and research in the field of autism spectrum disorder interventions.

Family-Centric Applied Behavior Analysis Facilitates Improved Treatment Utilization and Outcomes.

Background/Objective: Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by lifelong impacts on functional social and daily living skills, and restricted, repetitive behaviors (RRBs). Applied behavior analysis (ABA), the gold-standard treatment for ASD, has been extensively validated. ABA access is hindered by limited availability of qualified professionals and logistical and financial barriers. Scientifically validated, parent-led ABA can fill the accessibility gap by overcoming treatment barriers. This retrospective cohort study examines how our ABA treatment model, utilizing parent behavior technicians (pBTs) to deliver ABA, impacts adaptive behaviors and interfering behaviors (IBs) in a cohort of children on the autism spectrum with varying ASD severity levels, and with or without clinically significant IBs. Methods: Clinical outcomes of 36 patients ages 3-15 years were assessed using longitudinal changes in Vineland-3 after 3+ months of pBT-delivered ABA treatment. Results: Within the pBT model, our patients demonstrated clinically significant improvements in Vineland-3 Composite, domain, and subdomain scores, and utilization was higher in severe ASD. pBTs utilized more prescribed ABA when children initiated treatment with clinically significant IBs, and these children also showed greater gains in their Composite scores. Study limitations include sample size, inter-rater reliability, potential assessment metric bias and schedule variability, and confounding intrinsic or extrinsic factors. Conclusion: Overall, our pBT model facilitated high treatment utilization and showed robust effectiveness, achieving improved adaptive behaviors and reduced IBs when compared to conventional ABA delivery. The pBT model is a strong contender to fill the widening treatment accessibility gap and represents a powerful tool for addressing systemic problems in ABA treatment delivery.

Examining Language, Speech and Behaviour Characteristics: A Cross-Sectional Study in Saudi Arabia Using the Arabic Version of Gilliam Autism Rating Scale-Third Edition.

Autism spectrum disorder (ASD) exhibits diverse manifestations influenced by demographic factors. This study evaluates these variations within Saudi Arabia, aiming to investigate language, speech and behaviour characteristics across different demographics in Saudi Arabia using the Arabic Version of the Gilliam Autism Rating Scale-Third Edition (A-GARS-3). Employing a cross-sectional design, 178 participants were stratified by developmental status (n = 124 school settings, n = 54 clinical setting), sex (Females = 77, Males =101), age (range = 3-22), and geographical region (different provinces in Saudi Arabia). The A-GARS-3 measured ASD manifestations across six subscales. The study identified significant differences in ASD manifestations by developmental status, with higher ASD likelihood and severity in clinical settings. Younger children showed more pronounced ASD characteristics, and males were slightly more likely to be diagnosed with ASD. Geographical analysis revealed regional differences in severity. The findings underline the importance of demographic considerations in ASD assessment and diagnosis, suggesting the need for age-specific and culturally sensitive approaches. The A-GARS-3 is a reliable tool for the Saudi context. Regional disparities in ASD prevalence and severity indicate a need for tailored health policies and resources across Saudi provinces.

Clinical and neuropsychological correlates of theta-band functional excitation-inhibition ratio in autism: An EEG study

ObjectiveHow abnormal brain signaling impacts cognition in autism spectrum disorder (ASD) remained elusive. This study aimed to investigate the local and global brain signaling in ASD indicated by theta-band functional excitation-inhibition (fE/I) ratio and explored psychophysiological relationships between fE/I, cognitive deficits, and ASD symptomatology. MethodsA total of 83 ASD and typically developing (TD) individuals participated in this study. Participants’ interference control and set-shifting abilities were assessed. Resting-state electroencephalography (EEG) was used for estimating theta-band fE/I ratio. ResultsASD individuals (n = 31 without visual EEG abnormality; n = 22 with visual EEG abnormality) generally performed slower in a cognitive task tapping interference control and set-maintenance abilities, but only ASD individuals with visually abnormal EEG performed significantly slower than their TD counterparts (Bonferroni-corrected ps < .001). Heightened theta-band fE/I ratios at the whole-head level, left and right hemispheres were observed in the ASD subgroup without visual EEG abnormality only (Bonferroni-corrected ps < .001), which remained highly significant when only data from medication-naïve participants were analyzed. In addition, higher left hemispheric fE/I ratios in ASD individuals without visual EEG abnormality were significantly correlated with faster interference control task performance, in turn faster reaction time was significantly associated with less severe restricted, repetitive behavior (Bonferroni-corrected ps ≤ .0017). ConclusionsDifferential theta-band fE/I within the ASD population. Heightened theta-band fE/I in ASD without visual EEG abnormality may be associated with more efficient filtering of distractors and a less severe ASD symptom manifestation. SignificanceBrain signaling, indicated by theta-band fE/I, was different in ASD subgroups. Only ASD with visually-normal EEG showed heightened theta-band fE/I, which was associated with faster processing of visual distractors during a cognitive task. More efficient distractor filtering was associated with less restricted, repetitive behaviors.

The Metabolic Insight into Autism Spectrum Disorder: Evaluating Adiponectin's Impact on Severity and Therapy

Background: Autism Spectrum Disorder (ASD) is a neurodevelopmental condition with a complex interplay of genetic and environmental factors. Recent research has suggested a significant link between metabolic alterations and ASD pathology, particularly focusing on adiponectin, a hormone related to glucose regulation and fatty acid breakdown. Anomalies in adiponectin levels have been associated with cognitive impairment and the severity of ASD. Objective: This study aims to evaluate the potential of the ADIPOQ gene as a biomarker for dementia in individuals with ASD, exploring its correlation with cognitive decline and metabolic dysregulation. Methods: A total of 108 EDTA blood samples from ASD patients and 32 from healthy controls were collected after obtaining written informed consent. The inclusion criteria included individuals aged over 40 with Type II Diabetes Mellitus and confirmed cases of diabetes and dementia. Exclusion criteria comprised the absence of clinical history, refusal of consent, and secondary autism. Adiponectin levels were quantified using ELISA, and cognitive function was assessed via MMSE scores over a six-month follow-up period. Data analysis was conducted using GraphPad Prism 9.0 with ANOVA for statistical significance. Results: The study found a significant decrease in adiponectin levels among ASD patients (5.17±1.04 µg/mL) compared to healthy controls (11.37±4.14 µg/mL, p=0.014). MMSE scores were notably lower in the ASD group (10.26±2.56) than in controls (23.1±3.12, p=0.006). A marked underexpression of ADIPOQ gene (fold change of 4.9) was observed in patients with dementia. Conclusion: The ADIPOQ gene shows potential as a biomarker for the early detection of dementia in ASD, offering avenues for personalized medical interventions and preventative healthcare measures. Recognizing its role could lead to improved therapeutic strategies and a reduction in the healthcare burden due to neurodegenerative diseases associated with ASD.

Evaluation of the Impact of Screen Time and Parental Play on Children with an Autism Spectrum Disorder in Comparison with Normal Children

Background: There is a decremental trend seen in parental play in recent times, and there is a mounting trend in screen exposure in children. This changing trend in parental play and screen time exposure may affect child social and communication domains.Objective: To assess the impact of screen time and parental play in children with autism spectrum disorder.Methodology: This is a comparative cross sectional study with a sample of 60 children. Thirty children of age group 2-6 years diagnosed with Autism Spectrum Disorder as per DSM-5 (Diagnostic and Statistical Manual of Mental Disorders) attending child guidance Clinic, Government Hospital for Mental care were included in the study.The Parental Play Questionnaire assessed parental play in children. The Digital Screen Exposure Questionnaire(DSEQ) evaluated child screen time exposure. The severity of ASD was assessed by using the CARS scale.Results: Out of thirty samples with Autism spectrum disorder (ASD), 60% of children had moderate ASD, while 20% accounted for mild and severe ASD. Nearly 53.3% of ASD children had a frequency of watching smartphones more than 5 times a week with an average duration of more than 2 hours a day. In contrast, in normal children, only 6.7% have such frequency and an average time of watching smartphones less than 1 hour, significant with a p-value of &lt;0.001. Among the ASD group, 80% of children had active physical parent-child play frequency of less than twice a week. In normal children, about 60% had a frequency of parent-child play several times daily.(p-value &lt;0.001). About 66.7% of ASD children never had to pretend play, and 30% had pretend play once a week.Conclusion: The result showed significantly higher screen time exposure and lack of parental play in childrenwith ASD than in normal children. The need of this digital era is mounting concern about reducing screen time exposure and increasing parental play in childhood.

Gender differences in predictors of quality of life for parents of children with Autism Spectrum disorder in Saudi Arabia

PurposeFew researchers have examined gender differences in the quality of life (QoL) of parents of children with autism spectrum disorder (ASD) in diverse cultural contexts. The purpose of this study was to identify how ASD severity, affiliate stigma, perceived social support, family functioning, and coping strategies differentially predict the QoL of mothers and fathers of children with ASD in Saudi Arabia. Design and methodsBased on a cross-sectional research design, data were gathered between April and July 2023 from a convenience sample of 376 parents (220 mothers and 156 fathers) of children with ASD in Saudi Arabia. Welch's t-test and regression were used to achieve the study purpose. ResultsMothers of children with ASD reported lower QoL, perceived social support, and family functioning than fathers. Mothers relied on emotion-focused coping strategies, whereas fathers used problem-focused coping strategies. Furthermore, affiliate stigma, perceived social support, and family functioning significantly predicted the QoL of mothers and fathers of children with ASD. However, the severity of ASD affected only the QoL of the mothers. Problem-focused coping significantly predicted fathers' QoL but not mothers' QoL. ConclusionsThe results highlight gender differences in the factors that predict the QoL of parents of children with ASD in Saudi Arabia. Practice implicationsHealthcare professionals should consider parents' gender when providing support and interventions to improve parental QoL.

Autistic Spectrum disorder and Anaesthesia

One of the groups of patients which may require the greatest flexibility of approach is those with autistic spectrum disorder (ASD). ASD is a lifelong developmental disability, affecting four times as many males than females, which affects how a person communicates with, and relates to, other people and the world around them. Challenging behaviors may be triggered by the unfamiliar perioperative environment and may make anesthesia related procedures difficult or impossible. Children with more severe ASD may exhibit verbal or physical aggression, antisocial or disruptive behavior, temper tantrums, screaming, panic attacks, and self-injurious behavior, and may have aberrant responses to sensory stimuli. Although anaesthesia and sedation do not present a problem for most children with ASD, unpredictable regression in skills and behaviour is noted in a small number of patients after general anaesthesia. A 10-year-old child, 53 kg, with autism under treatment, came for a dental abscess and related dental work under general anaesthesia. The pediatric neurological assessment indicated hyperactivity and lack of cooperation. Post-operatively, during resuscitation, the child showed agitation and an attempt to withdraw oxygen, with the physical presence of his family environment.

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.

Comparison of MicroRNA Levels of 18-60-month-old Autistic Children with Those of Their Siblings and Controls.

The present study aims to compare the levels of 7 microRNAs (mi-RNAs) (mi-RNA-125b, mi-RNA-23a-3p, mi-RNA-146a-5p, mi-RNA-106a, mi-RNA-151a-3p, mi-RNA-28, mi-RNA-125a) in the blood of the preschool children with autism and those of their siblings with healthy controls, and to investigate the association between these mi-RNAs and the severity of autism, behavioral problems, and siblings' autistic traits. A total of 35 children diagnosed with autism spectrum disorder (ASD) at the ages of 18-60 months (patient group), 35 non-affected siblings of the ASD group (sibling group), and 30 control subjects (control group) were involved in the study. The severity of ASD was measured using the Childhood Autism Rating Scale and the Autism Behavior Checklist (ABC). The behavioral problems of the children with ASD were assessed with the Aberrant Behavior Checklist, and the autistic traits of the siblings were assessed using the Autism spectrum screening scale for children. mi-RNA-106a-5p, mi-RNA-151a-3p, and mi-RNA-28-3p were found to be expressed significantly lower in the patient group compared to the control group. There was a significant positive correlation between mi-RNA-23a and the sensory subscale of the ABC. mi-RNA-151a was significantly associated with sound sensitivity and mi-RNA-28 with echolalia. After controlling for age and sex, the differences between groups were disappeared. The present study examined mi-RNAs that have been reported as biomarkers in the literature. Although several symptom clusters are found to be related to certain mi-RNA expression levels, they were not found to be significant in discriminating the patient and healthy groups.

Serum interleukin-17 A and homocysteine levels in children with autism

BackgroundAutism Spectrum Disorder (ASD) is a neurodevelopmental condition that typically emerges early in childhood. This study aimed to explore the potential link between serum levels of vitamin B12 and homocysteine (Hcy) and the severity of ASD symptoms in children.MethodsIn this study, 50 children diagnosed with ASD comprised the observation group, while 50 healthy children constituted the control group. Serum levels of IL-17 A, Hcy, folate, and vitamin B12 were compared between the study group and control group, as well as among children with different degrees of ASD severity. The correlation between the Childhood Autism Rating Scale (CARS) score and serum levels of IL-17 A, Hcy, folate, and vitamin B12 was examined. Additionally, the relationship between serum IL-17 A and Hcy levels and their association with the severity ASD were explored.ResultsCompared to the control group, the observation group demonstrated elevated serum Hcy and IL-17 A levels alongside decreased folate and vitamin B12 levels. Individuals with severe ASD exhibited higher Hcy and IL-17 A levels but lower folate and vitamin B12 levels compared to those with mild to moderate ASD. The CARS score showed negative correlations with serum folate and vitamin B12 levels and positive correlations with serum IL-17 A and Hcy levels in ASD patients. Additionally, serum Hcy and IL-17 A levels were correlated with ASD severity.ConclusionChildren diagnosed with ASD presented with reduced serum vitamin B12 levels and increased levels of Hcy, potentially contributing to the onset and severity of ASD.

National Survey on bladder and bowel dysfunctions in Autism Spectrum Disorder population.

To evaluate lower urinary tract symptoms (LUTS) and bowel disorders in a population of young subjects with autism spectrum disorder (ADS) by a national survey and to assess the relationship between the occurrence, frequency, and type of LUTS and the severity of behavioral and neuropsychiatric characteristics. A survey on LUTS and bowel disorders in the ASD population was sent by mail and social media through the main Italian Associations of ASD between February and September 2022. The correlation between LUTS and ASD severity was also assessed. The survey was completed by 502 subjects with a mean age of 16.6 years ± 10 years: male participants were 413 (mean age: 16.5 years ± 9.8 years), while female participants 89 (mean age: 17.2 years ± 10.9 years). ADS severity was found low in 29.9%, moderate in 27.1%, and severe in 43%. LUTS were reported by 77.1%, storage symptoms in 51.4%, and voiding symptoms in 60.6%. Urinary incontinence was reported by 12.5%. Enuresis was reported by 14.3% (72/502) of the respondents: primary enuresis in 70.8% (51/72), secondary in the remaining. Pads were used by 40 subjects with a median of 2.9 pads/day (range, 0-8). A toilet training program was performed by 61 of the respondents, with satisfactory results in 40/61 (65.6%). A significant correlation was found between greater ASD severity and higher LUTS rates. The mean VAS score on the impact of LUTS on family relationships was 2 ± 2.9. Regular bowel function was reported by 57.4% (288/502) of the respondents, while increased daily defecations were present in 11.2% (56/502), constipation in 31.5% (158/502), and fecal incontinence in 7.9% (40/502). This survey demonstrated that LUTS are very common in the young ASD population and that the prevalence of urinary symptoms is related to higher severity of the ASD condition. Bowel disorders are often associated with urinary symptoms and dysfunctions. Urologists should be aware of the frequent occurrence of urological disorders and symptoms in individuals with ASD and should be involved in their clinical management in a multidisciplinary team that cares for these people.

Remote Physiotherapy for Children with ASD during the COVID-19 Pandemic: A Thematic Analysis of Physical Therapists' Perspectives.

Background: Physical therapy plays a crucial role in addressing the physical challenges faced by individuals with autism spectrum disorder (ASD). Amidst the COVID-19 pandemic lockdown, physical therapists (PTs) working in special education centers for ASD children were tasked with deploying remote telehealth interventions (RTIs), an uncommon approach in physical therapy until then. The present article aims to describe and discuss the PTs' perspective of using RTI with children with ASD during the national Israeli COVID-19 lockdown. Methods: Reports from 13 experienced PTs who treated and supported 244 children with ASD using RTIs over six weeks were analyzed. The study employed quantitative research methods, including freely written reports and discussions addressing the question "what were your experiences as a PT treating ASD children remotely during the nationwide COVID-19 lockdown?" Results: the reports were categorized into four main themes: (a) the implications of RTIs on the children; (b) the implications of RTIs on the PTs; (c) modifications for applying RTI; and (d) PTs' family rapport as a necessary basis for RTI. Noteworthy findings include the unaffected implementation of RTIs by ASD severity level and the dependence of RTI's success on parental availability and the ability of parents to tailor activities for their child. Conclusions: The findings of the current research suggest that PT services through RTIs are well-suited for individuals with ASD and their families.

Formation of cognitive processes in children with autism. Part I. Epigenetic mechanisms

Autism and autism spectrum disorders are neuropsychiatric diseases that begin to appear in children under 3 years. Over the past decade, the number of children with autism spectrum disorders has increased more than in 10-fold and continues to grow, accounting for 1–2 % of the world’s population. Currently, the diagnosis of autism spectrum disorders is based only on clinical and behavioral tests, and there are no biological and genetic markers that could contribute to the early detection of this disorder. The review, based on the analysis of modern literature data about epigenetic mechanisms which associated with autism, examines the influence of the DNA methylation profile in the formation of cognitive impairment and the possibility of using genes and their methylation status as diagnostic biomarkers in children with autism spectrum disorders. Literature data analysis shows that disorders of attention, speed of information processing, working memory, learning are based on genetic and epigenetic (methylation) changes in the expression of many genes: BDNF, CAPS2, CNTNAP2, GABRB3, FMR1, FOXP1, GTF2I, HSD11B2, MECP2, NF2, NGF, NR3C1, OXTR, PAK2, RELN, SLC6A4, UBE3A, etc. Most of these genes undergo hypermethylation, reducing the expression of its proteins, which impairs the development and formation of the nervous system in autism. In contrast, other genes are associated with methylation and oxidative stress are hypomethylated in autism spectrum disorders. Assessing the expression levels and methylation status of these genes can serve as genetic and epigenetic biomarkers for the differentiation and diagnosis of clinical symptoms, autism spectrum disorders severity, and facilitate the development of new treatments and rehabilitation procedures.

De novo copy number variations in candidate genomic regions in patients of severe autism spectrum disorder in Vietnam.

Autism spectrum disorder (ASD) is a developmental disorder with a prevalence of around 1% children worldwide and characterized by patient behaviour (communication, social interaction, and personal development). Data on the efficacy of diagnostic tests using copy number variations (CNVs) in candidate genes in ASD is currently around 10% but it is overrepresented by patients of Caucasian background. We report here that the diagnostic success of de novo candidate CNVs in Vietnamese ASD patients is around 6%. We recruited one hundred trios (both parents and a child) where the child was clinically diagnosed with ASD while the parents were not affected. We performed genetic screening to exclude RETT syndrome and Fragile X syndrome and performed genome-wide DNA microarray (aCGH) on all probands and their parents to analyse for de novo CNVs. We detected 1708 non-redundant CNVs in 100 patients and 118 (7%) of them were de novo. Using the filter for known CNVs from the Simons Foundation Autism Research Initiative (SFARI) database, we identified six CNVs (one gain and five loss CNVs) in six patients (3 males and 3 females). Notably, 3 of our patients had a deletion involving the SHANK3 gene-which is the highest compared to previous reports. This is the first report of candidate CNVs in ASD patients from Vietnam and provides the framework for building a CNV based test as the first tier screening for clinical management.