Assessment Of Autism Spectrum Disorder Research Articles

The Impact of Face Mask Use on Research Evaluations of 5-7 Year-Old Children With Autism Spectrum Disorder.

The COVID-19 pandemic changed the nature of clinical research assessments. Little is known about the impact of face mask use on research assessments for autism spectrum disorder (ASD). This study reports on tolerability of face mask use, child characteristics associated with tolerability, and the impact of face mask use on researcher ASD diagnostic certainty ratings. This paper describes results from a larger study of children who were clinically diagnosed with ASD in early childhood and were re-evaluated at age 5-7years. Research diagnostic evaluations were conducted from 2018 to 2022 and included cognitive, language, and social-communication assessment. A research psychologist completed a rating scale on the potential impact of face mask use on research assessment diagnostic certainty for a subset of participants (n = 60) who were evaluated during the COVID-19 pandemic. The mean age of study participants was 6.2years. Face masks were tolerated throughout the assessment for 40 children (66.7%); part-time for 13 (21.6%); and not tolerated for 7 (11.6%). Analysis of Variance (ANOVA) suggested that children who did not tolerate a face mask had significantly lower cognitive [F(2, 59) = 13.241, p < 0.001] and communication [F(2, 59) = 13.639, p < 0.001] scores compared to children who wore their mask for all or part of the visit. For 88% of research assessments, research staff indicated that face mask use had "no impact" on overall assessment results. Face mask use during clinical research assessment was not reported by research staff to significantly impact their ability to complete ASD evaluations.

Exploring the links between sensory sensitivity, autistic traits and autism-related eating behaviours in a sample of adult women with eating disorders

This study examined the presence of autistic traits in a sample of adult women diagnosed with different Eating Disorders (ED), and explored the concurrent role of autistic traits and sensory sensitivity in influencing both their eating disorder symptomatology and their autism-related eating behaviours. Seventy-five women with different ED (Anorexia Nervosa, Bulimia Nervosa, Binge-Eating Disorder, Other Specified Feeding or Eating Disorder) completed the Eating Attitude Test (EAT-26), the Autism Quotient (AQ), the Ritvo Autism Asperger Diagnostic Scale-Revised (RAADS-R), the Sensory Perception Quotient - Short Form 35 item (SPQ-SF35) and the Swedish Eating Assessment for Autism Spectrum Disorders (SWEAA). Twelve percent of participants scored above the cut-off on both the AQ and the RAADS-R, while 68% scored above the cut-off on the RAADS-R only. A mediation analysis revealed that the association between sensory sensitivity (SPQ-SFR35) and scores on both the EAT-26 and the SWEAA was significantly mediated by the presence of autistic traits (RAADS-R). These findings, first, confirm the presence of autistic traits in individuals with ED; second, they show that a lower sensory threshold (i.e., a higher sensory sensitivity) is associated with a higher presence of autistic traits which were, in turn, positively associated with dysfunctional eating behaviours typical of ED and ASD. This study ultimately highlights the importance of further research on autistic traits across all diagnostic categories of ED.

Autism, intelligence, language, and adaptive behavior, disentangling a complex relationship.

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterized by a range of intellectual and language abilities. Its heterogeneity is acknowledged in modern diagnostics, complicating research and necessitating precision medicine and a multidimensional approach for individualized treatment and accurate assessment. Intellectual and language functioning influence adaptive skills and symptomatology. Thus, assessing adaptive functioning in a multidimensional and multi-informant manner is crucial, highlighting the importance of comprehensive evaluations. This study explores the interplay between autistic traits, demographic variables, IQ, adaptive functioning, and the applicability of ICD-11 classifications. We analyzed data from the initial global evaluation of 60 diverse autistic children (aged 35 to 120 months; IQ range 16 to 118). Parent-reports using the Vineland Adaptive Behavior Scale (VABS-II) were compared with standardized assessments from the PsychoEducational Profile (PEP-3). Children's intellectual levels were assessed using Griffiths Scales of Child Development (Griffiths III) and the Autism Diagnostic Observation Schedule (ADOS-2) was used for autistic traits. They were further classified according to the ICD-11 diagnostic system, functional language, and intellectual functioning levels. Correlations among variables, group comparisons, and multivariate analyses were performed. The analysis indicates a linear effect of IQ on all adaptive scales and the impact of autistic traits on directly measured adaptive functioning. A factorial effect was observed due to changes concerning specific age, intellectual, and linguistic levels, which do not completely align with ICD-11 categorization. Additionally, a negative correlation between intelligence and measured autistic traits was found. Parental age, education level, and age at childbirth were also found to affect various adaptive scales. The study questions the ICD-11's proposed distinctions in IQ and language functioning for ASD, advocating for more refined categorization and developmental considerations. It underscores the intricate relationship between autistic traits, IQ, and communication skills, casting doubt on the precision of diagnostic tools across the spectrum. Parental reports and direct assessments are essential for comprehensive evaluation, with parental education and age influencing children's behaviors and skills. The study calls for a nuanced approach to ASD assessment, integrating various metrics and sources of information for a detailed phenotyping necessary for personalized interventions and biological research.

Assessing the utility of a telehealth autism spectrum disorder assessment battery including the TELE-ASD-PEDS and the BASC-3

Objectives The goal of this research was to examine aspects of utility of an autism diagnostic tool created for telehealth use: the TELE-ASD-PEDS. This research also assessed associated clinical characteristics related to other behavior scales commonly used to assess children. Three hypotheses were examined: (1) Children with different diagnoses will have different scores on the TELE-ASD-PEDS; (2) There will be a positive correlation between the TELE-ASD-PEDS total score and the clinical subscales of the Behavior Assessment System for Children, 3rd edition (BASC-3); and (3) There will be a negative correlation between the TELE-ASD-PEDS and other selected subscales of the BASC-3. Methods Participants included children referred to a rural, Appalachian, state-funded, autism diagnostic clinic. A one-way ANOVA was conducted to compare TELE-ASD-PEDS scores with diagnoses received. TELE-ASD-PEDS scores and BASC-3 subscale scores were compared through bivariate correlation. Results When compared to the Autism group, both the Rule Out and the No Autism groups had lower scores on the TELE-ASD-PEDS. The BASC-3 subscale Withdrawal had a positive correlation with the TELE-ASD-PEDS. Finally, the adaptive subscales in the BASC-3 Social Skills, Functional Communication, and Activities of Daily Living had negative correlations with the TELE-ASD-PEDS. Conclusions Current data provided partial support for all hypotheses.

Predicting language, cognition, and social skills in individuals with Autism spectrum disorder using the Arabic validation of Gilliam Autism Rating scale-Third Edition

The Gilliam Autism Rating Scale-Third Edition (GARS-3) has emerged as a pivotal instrument in the diagnostic assessment of Autism Spectrum Disorder (ASD), with its utility extending across linguistic and cultural boundaries. This study endeavors to adapt and validate the GARS-3 for the Arabic-speaking population, addressing the paucity of culturally congruent diagnostic tools in the Arab world. The primary objective is to validate the Arabic version of GARS-3 (A-GARS-3) to assess children with and without ASD, ensuring the scale’s reliability and validity within the target population. A methodical cross-sectional study design was employed, encompassing a sample of 178 participants from both educational and clinical settings in Saudi Arabia. The process involved direct translation, expert panel review, back-translation, and pilot testing to ensure semantic equivalence and cultural relevance. Data were collected using the A-GARS-3, and analyses included Exploratory and Confirmatory Factor Analysis (EFA and CFA), internal consistency reliability measures, and a One-Way Analysis of Variance (ANOVA) to establish concurrent validity. The A-GARS-3 demonstrated high internal consistency (Cronbach’s alpha = 0.971; McDonald’s omega = 0.972) and strong construct validity, with factor loadings and model fit indices substantiating the factor structure. Predictive validity was confirmed through significant correlations between the Autism Index and the subscales, particularly in the domains of social interaction and communication. The A-GARS-3 is a psychometrically sound instrument that offers reliable assessment for ASD within the Arab cultural context. The positive validation outcomes indicate that the scale is an effective, culturally adapted tool for the localized diagnosis of ASD. The validated scale has significant implications for enhancing ASD screening and diagnostic practices in Arabic-speaking regions, potentially improving early diagnosis and intervention strategies.

Evaluating ASD in children through automatic analysis of paintings

Autism spectrum disorder (ASD) is a hereditary neurodevelopmental disorder affecting individuals, families, and societies worldwide. Screening for ASD relies on specialized medical resources, and current machine learning-based screening methods depend on expensive professional devices and algorithms. Therefore, there is a critical need to develop accessible and easily implementable methods for ASD assessment. In this study, we are committed to finding such an ASD screening and rehabilitation assessment solution based on children’s paintings. From an ASD painting database, 375 paintings from children with ASD and 160 paintings from typically developing children were selected, and a series of image signal processing algorithms based on typical characteristics of children with ASD were designed to extract features from images. The effectiveness of extracted features was evaluated through statistical methods, and they were then classified using a support vector machine (SVM) and XGBoost (eXtreme Gradient Boosting). In 5-fold cross-validation, the SVM achieved a recall of 94.93%, a precision of 86.40%, an accuracy of 85.98%, and an AUC of 90.90%, while the XGBoost achieved a recall of 96.27%, a precision of 93.78%, an accuracy of 92.90%, and an AUC of 98.00%. This efficacy persists at a high level even during additional validation on a set of newly collected paintings. Not only did the performance surpass that of participated human experts, but the high recall rate, as well as its affordability, manageability, and ease of implementation, indicates potentiality in wide screening and rehabilitation assessment. All analysis code is public at GitHub: dishangti/ASD-Painting-Pub.

Parent concerns prior to an assessment of autism spectrum disorder: A systematic review.

When a parent has concerns about their child's development, there is a lag between seeking and receiving health information. When waiting, parents may speculate about a possible diagnosis of autism spectrum disorder, but it is unclear what types of concerns might drive this speculation. To determine the types of concerns parents may have before their child is assessed, we conducted a systematic review that explored parent concerns before an autism spectrum disorder assessment. Our aim was to determine the types of concerns that might drive parents to seek medical help for their child's development. Four online databases were searched and 10 articles reporting on 9 studies matched our inclusion criteria. In these cohorts, parents reported autism spectrum disorder-specific concerns (i.e. communication, social or stereotyped behaviour concerns) or non-autism spectrum disorder-specific concerns (i.e. behaviour/temperament, developmental, medical, sensory or motor concerns). Some parents also reported on their positive and negative thoughts of a potential autism spectrum disorder diagnosis and what the diagnosis would mean to them. The most reported parental concerns before an assessment were speech and language, social and behavioural. To understand the types of concerns parents have once they seek medical help, further research into how families speculated a possible autism spectrum disorder is recommended.

Gestational exposure to organophosphate esters and autism spectrum disorder and other non-typical development in a cohort with elevated familial likelihood

BackgroundGestational exposure to organophosphate esters (OPEs) is known to affect offspring neurodevelopment in animal studies. However, epidemiological evidence is inconsistent. MethodsParticipants were 277 mother-child pairs from MARBLES (Markers of Autism Risk in Babies – Learning Early Signs), a cohort with elevated familial likelihood of autism spectrum disorder (ASD). Nine OPE biomarker concentrations were quantified in maternal urine collected during the 2nd or 3rd trimesters of pregnancy. At age 3 years, children underwent clinical assessment for ASD and were classified into ASD, other non-typical development (non-TD), or typical development (TD). Multinomial logistic regression was used to estimate associations between each OPE biomarker and relative risk ratios for ASD and non-TD compared to TD. We examined effect modification by child sex and socioeconomic status. We also conducted a secondary analysis by using a continuous measure of ASD symptom severity as an outcome. Quantile-based g-computation was performed to examine the associations for an OPE mixture. ResultsOverall, no significant association was observed between the concentrations of each OPE biomarker or their mixture and relative risk for either ASD or non-TD. Effect modifications by child sex and maternal education were not observed. When the analysis was stratified by homeownership, among non-homeowners, ASD likelihood was increased with increased levels of bis(1-chloro-2-propyl) phosphate, bis(butoxyethyl) phosphate, and sum of di-n-butyl phosphate and di-iso-butyl phosphate (DBUP/DIBP) (pint < 0.10). Higher DBUP/DIBP were associated with increased ASD symptom severity scores. ConclusionThere was no clear evidence of gestational OPE exposure in association with relative risk for ASD; however, potential effect modification by homeownership was observed. Although our cohort includes children with elevated familial likelihood of ASD, this is the first study investigating the association between gestational OPE exposure and clinically-diagnosed ASD. Further research is needed to confirm our findings in the general population.

Use of Telehealth in Autism Spectrum Disorder Assessment in Children: Evaluation of anOnline Diagnostic Protocol Includingthe Brief Observation of Symptoms of Autism.

The COVID-19 pandemic revealed the need to develop the field of remote assessment for autism spectrum disorders (ASD). The purpose of the study was to evaluate an online assessment protocol that includes the Brief Observation of Symptoms of Autism (BOSA). The online protocol consisting of BOSA and the Autism Diagnostic Interview-Revised (ADI-R) was administered by experienced examiners to 29 children with suspected ASD. The participants were then evaluated by clinical psychologists in a standard clinical setting using the Autism Diagnostic Observation Schedule-2 (ADOS-2) and other methods, and the ASD diagnosis was confirmed or ruled out. The results show substantial to moderate inter-rater agreement between the online and face-to-face raters with the value of Cohen's Kappa = 0.66 (P < 0.001); this corresponds with 79.8% agreement. The sensitivity of the protocol was approx. 94.7%, the specificity was 70%, the positive predictive value was 85.7%, and the negative predictive value was 87.5%. Further, direct false positive or false negative diagnostic conclusions based on the online protocol were absent when the possible conclusion of "I cannot decide" was included. The items B9 Showing, B10 Spontaneous Initiation of Joint Attention, B1 Unusual Eye Contact, B3 Facial Expressions Directed to Others, and C2 Imagination/Creativity were shown to be well observable in BOSA when related to ADOS-2 scoring. The results indicate that the protocol consisting of BOSA and ADI-R administered by an experienced examiner is a promising combination of tools for remote autism assessment.

A - 64 Neuropsychological Assessment of Autism Spectrum Disorder

Abstract Objective Now more than ever, the neuropsychologist is frequently called upon to assess and diagnosis Autism Spectrum Disorder (ASD). Neuropsychological assessment provides a comprehensive and objective analysis of a child suspected of having ASD. To ensure accurate and early diagnosis of young children, this review will inform on the essential domains to include in the evaluation of ASD, highlight the cognitive profile of individuals with ASD, and address gender differences to consider as part of the diagnosis. Data Selection The following selection criteria were utilized: -articles published in peer-reviewed journals during the previous 10 years focusing on neuropsychological evaluations of ASD -employed a variety of assessment tools and methodologies - reporting on validity and reliability of specific measures to include in the evaluation of ASD in children. Data Synthesis It is essential to evaluate intelligence, attention, executive functioning, social communication, and fine motor skills as part of a comprehensive neuropsychological evaluation. Intelligence tests can sometimes underestimate the IQ of individuals with ASD. The uneven cognitive development in children with ASD makes accurate diagnosis even more challenging. Sex related cognitive profiles should be considered to assist in the accurate diagnosis of girls with ASD. Conclusions Early and accurate identification of ASD in children is essential for improved outcomes. Schools, physicians, insurance agencies, and other stakeholders rely on the results of the neuropsychological evaluation to authorize essential interventions. Therefore, it is imperative to employ the most recent research related to the assessment of ASD, with an emphasis on increasing the identification of girls.

Structure of Restricted Repetitive Behaviors of Individuals Referred for Autism Spectrum Disorder Assessment.

Restricted and/or repetitive displays of behavior, interests, or activities (RRBs) are one of the core symptom domains of autism spectrum disorder (ASD). Current and past research indicates two 'clusters' of RRBs in children with ASD: repetitive sensorimotor (e.g., hand/finger and more complex motor mannerisms) and insistence on sameness (e.g., resistance to changes in the environment) behaviors. The current study aims to fill a gap by examining how RRBs may diverge in individuals with ASD and with other neurodevelopmental disorders (ONDD) in a clinical sample. A total of 558 individuals were seen at a tertiary care clinic for a comprehensive clinical assessment of ASD. The sample was split into ASD (n = 292 individuals) and ONDD (n = 266) groups based on clinical diagnosis. Exploratory factor analyses were conducted using Autism Diagnostic Interview-Revised (ADI-R) RRB item scores for the overall sample, the ASD group, and the ONDD group. Exploratory factor analysis of ADI-R RRB items indicated a 2-factor solution for the full sample and ASD group. Items loaded onto two factors comprised of "Repetitive Sensorimotor" and "Insistence on Sameness" behaviors, consistent with previous literature. Results demonstrated a unique loading pattern for the non-ASD group, with items clustering into "Higher Order" (e.g., circumscribed interests) and "Lower Order" (e.g., hand and finger mannerisms) behaviors. The results of the current study may point towards using RRBs to guide screening of children who are referred for an ASD evaluation to better identify children who are at higher risk of having ASD.

Socioeconomic Factors and Clinical Characteristics Associated with Age at Autism Spectrum Disorder Diagnosis

Objective: Investigate factors influencing autism spectrum disorder (ASD) diagnosis in children under and over 36 months, and determine the average age for ASD diagnosis at Charoenkrung Pracharak Hospital, Bangkok, Thailand, after implementing ASD screening. Materials and Methods: A retrospective cross-sectional study of 252 children with ASD aged 1-15 years from 2014 to 2023, classified into ≤36 months (n=104) and &gt;36 months (n=148) at diagnosis. Demographic, clinical data and child/family factors were analyzed using multivariate regression analysis. Results: Mean age at ASD diagnosis was 44.77 ± 19.91 months. Attending well-baby clinics (aOR 2.64, p=0.038), higher family income ≥ 814 US dollars per month (aOR 2.33, p=0.020), and higher parental education (aOR 3.43, p=0.011) were significantly associated with diagnosis before 36 months. Hyperactivity as the main complaint (aOR 0.07, p=0.001) and global developmental delay/intellectual disability (aOR 0.45, p=0.023) predicted later diagnosis. Child’s gender, being an only child, sibling order, and parental age had no significant impact. Conclusion: Over half of all ASD diagnoses occurred after age 3, with an average age around 44 months. Regular attendance in well-child clinics allowing ASD screening, and higher socioeconomic status and parental education facilitated earlier diagnosis. In contrast, concerns about hyperactivity and global developmental delay often lead to delayed ASD assessment. Enhancing awareness of ASD among families with limited resources can promote timely diagnosis and access to intervention.

Linguistic summarization of visual attention and developmental functioning of young children with autism spectrum disorder

Diagnosing autism spectrum disorder (ASD) in children poses significant challenges due to its complex nature and impact on social communication development. While numerous data analytics techniques have been proposed for ASD evaluation, the process remains time-consuming and lacks clarity. Eye tracking (ET) data has emerged as a valuable resource for ASD risk assessment, yet existing literature predominantly focuses on predictive methods rather than descriptive techniques that offer human-friendly insights. Interpretation of ET data and Bayley scales, a widely used assessment tool, is challenging for ASD assessment of children. It should be understood clearly to perform better analytic tasks on ASD screening. Therefore, this study addresses this gap by employing linguistic summarization techniques to generate easily understandable summaries from raw ET data and Bayley scales. By integrating ET data and Bayley scores, the study aims to improve the identification of children with ASD from typically developing children (TD). Notably, this research represents one of the pioneering efforts to linguistically summarize ET data alongside Bayley scales, presenting comparative results between children with ASD and TD. Through linguistic summarization, this study facilitates the creation of simple, natural language statements, offering a first and unique approach to enhance ASD screening and contribute to our understanding of neurodevelopmental disorders.

Effect of probiotics on children with autism spectrum disorders: a meta-analysis

BackgroundResearches have found that alteration of intestinal flora may be closely related to the development of autism spectrum disorder (ASD). However, whether probiotics supplementation has a protective effect on ASD remains controversial. This meta-analysis aimed to analyze the outcome of probiotics in the treatment of ASD children.MethodsThe Pubmed, Cochrane Library, Web of Science and Embase were searched until Sep 2022. Randomized controlled trials (RCTs) relevant to the probiotics and placebo treatment on ASD children were screened. Quality assessment of the included RCTs was evaluated by the Cochrane collaboration’s tool. The primary outcomes were ASD assessment scales, including ABC (aberrant behavior checklist) and CBCL (child behavior checklist) for evaluating the behavior improvement, SRS (social responsiveness scale) for social assessment, DQ (developmental quotient) for physical and mental development and CGI-I (clinical global impression improvement) for overall improvement. The secondary outcome was total 6-GSI (gastrointestinal severity index).ResultsIn total, 6 RCTs from 6 studies with 302 children were included in the systemic review. Total 6-GSI (MD=-0.59, 95%CI [-1.02,-0.17], P < 0.05) decreased significantly after oral administration of probiotics. Whereas, there was no statistical difference in ABC, CBCL, SRS, DQ and CGI-I between probiotics and placebo groups in ASD children.ConclusionProbiotics treatment could improve gastrointestinal symptoms, but there was no significant improvement in ASD.

Assessment of Autism Spectrum Disorder (ASD) Symptoms from the Perspective of Special Education Trainers in Kurdistan Region

Assessment of Autism Spectrum Disorder (ASD) Symptoms from the Perspective of Special Education Trainers in Kurdistan Region

Social challenges, autism spectrum disorder, and attention deficit/hyperactivity disorder in youth with neurofibromatosis type I

Objective Youth with neurofibromatosis type I (NF1) demonstrate high rates of Autism Spectrum Disorder (ASD) and Attention Deficit/Hyperactivity Disorder (ADHD), which often have overlapping behaviors. Diagnostic clarity is important to guide services. This study evaluated ASD classification in NF1 using various methods and whether those with ADHD suspicion have more social challenges associated with ASD. Method 34 youth with NF1 (M age = 10.5 ± 1.6 years), completed ASD assessments that combined direct observation and informant ratings to yield a Clinician Best Estimate (CBE) classification. Caregivers rated ASD-related social challenges using the Social Responsiveness Scale- 2nd Edition (SRS-2). Results ASD classification varied depending on the method, ranging from 32% using low-threshold SRS-2 cut-scores (T ≥ 60) to under 6% when combining cut scores for diagnostic observational tools and stringent SRS-2 cut-scores (T ≥ 70). 14.7% had a CBE ASD classification. 44% were judged to have autism traits associated with a non-ASD diagnosis. The 52.9% with a suspicion of ADHD had higher SRS-2 scores than those without ADHD, F (7, 26) = 3.45, p < .05, Wilk’s lambda = 0.518, partial eta squared = 0.482. Conclusions Findings highlight the importance of rigorous diagnostic methodology when evaluating ASD in NF1 to inform the selection of targeted interventions for socialization challenges in NF1.

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.

The Brain Gene Registry: a data snapshot

Monogenic disorders account for a large proportion of population-attributable risk for neurodevelopmental disabilities. However, the data necessary to infer a causal relationship between a given genetic variant and a particular neurodevelopmental disorder is often lacking. Recognizing this scientific roadblock, 13 Intellectual and Developmental Disabilities Research Centers (IDDRCs) formed a consortium to create the Brain Gene Registry (BGR), a repository pairing clinical genetic data with phenotypic data from participants with variants in putative brain genes. Phenotypic profiles are assembled from the electronic health record (EHR) and a battery of remotely administered standardized assessments collectively referred to as the Rapid Neurobehavioral Assessment Protocol (RNAP), which include cognitive, neurologic, and neuropsychiatric assessments, as well as assessments for attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). Co-enrollment of BGR participants in the Clinical Genome Resource’s (ClinGen’s) GenomeConnect enables display of variant information in ClinVar. The BGR currently contains data on 479 participants who are 55% male, 6% Asian, 6% Black or African American, 76% white, and 12% Hispanic/Latine. Over 200 genes are represented in the BGR, with 12 or more participants harboring variants in each of these genes: CACNA1A, DNMT3A, SLC6A1, SETD5, and MYT1L. More than 30% of variants are de novo and 43% are classified as variants of uncertain significance (VUSs). Mean standard scores on cognitive or developmental screens are below average for the BGR cohort. EHR data reveal developmental delay as the earliest and most common diagnosis in this sample, followed by speech and language disorders, ASD, and ADHD. BGR data has already been used to accelerate gene-disease validity curation of 36 genes evaluated by ClinGen’s BGR Intellectual Disability (ID)-Autism (ASD) Gene Curation Expert Panel. In summary, the BGR is a resource for use by stakeholders interested in advancing translational research for brain genes and continues to recruit participants with clinically reported variants to establish a rich and well-characterized national resource to promote research on neurodevelopmental disorders.

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.

Clinician Opinions Regarding the Usefulness of the BOSA for ASD Assessment in a Service for Children Aged Under 12 Years.

The COVID-19 pandemic and the subsequent social distancing policies forced healthcare teams to drastically alter the way they deliver services. This was particularly challenging for clinicians involved in diagnosing autism spectrum disorder (ASD), as assessment tools and methods required face-to-face social interactions between clinicians and children. To address this, the Brief Observation of Symptoms of Autism (BOSA) was developed to ensure that people suspected of ASD can receive diagnostic assessments during the pandemic. This project aimed to explore clinicians' opinions on the BOSA, particularly regarding the usefulness of the assessment for clinicians to clarify diagnostic outcomes of ASD assessments. Both quantitative and qualitative data was gathered within an NHS community paediatric team. This included a questionnaire for clinicians to complete, and data from the BOSA assessments done in the service. Thematic analysis and descriptive statistics revealed that many clinicians felt that the BOSA can be beneficial in certain cases, such as selective mutism, and found the BOSA particularly helpful for observing parent-child interactions. These findings highlighted important information that the Autism Diagnostic Observation Schedule Second Edition (ADOS-2) does not give opportunities to observe. Clinicians reported that at times, the BOSA materials, brevity and parental administration created barriers to gathering information for diagnostic decisions. As may be expected, clinicians showed a clear preference for the more familiar and validated ADOS-2. However, the study highlights perceived limitations of the ADOS-2 and strengths of the BOSA, with recommendations made for future practice and research.