scholarly journals An ontology for Autism Spectrum Disorder (ASD) to infer ASD phenotypes from Autism Diagnostic Interview-Revised data

2015 ◽  
Vol 56 ◽  
pp. 333-347 ◽  
Author(s):  
Omri Mugzach ◽  
Mor Peleg ◽  
Steven C. Bagley ◽  
Stephen J. Guter ◽  
Edwin H. Cook ◽  
...  
Autism ◽  
2017 ◽  
Vol 23 (1) ◽  
pp. 154-166 ◽  
Author(s):  
Miia Kaartinen ◽  
Kaija Puura ◽  
Päivi Pispa ◽  
Mika Helminen ◽  
Raili Salmelin ◽  
...  

Cooperation is a fundamental human ability that seems to be inversely related to aggressive behaviour in typical development. However, there is no knowledge whether similar association holds for children with autism spectrum disorder. A total of 27 boys with autism spectrum disorder and their gender, age and total score intelligence matched controls were studied in order to determine associations between cooperation, reactive aggression and autism spectrum disorder–related social impairments. The participants performed a modified version of the Prisoner’s Dilemma task and the Pulkkinen Aggression Machine which measure dimensions of trust, trustworthiness and self-sacrifice in predisposition to cooperate, and inhibition of reactive aggression in the absence and presence of situational cues, respectively. Autism spectrum disorder severity–related Autism Diagnostic Interview-algorithm scores were ascertained by interviewing the parents of the participants with a semi-structured parental interview (Developmental, Dimensional and Diagnostic Interview). The results showed that albeit the boys with autism spectrum disorder were able to engage in reciprocation and cooperation regardless of their social impairments, their cooperativeness was positively associated with lower levels of reactive aggression and older age. Thus, strengthening inhibition mechanisms that regulate reactive aggression might make boys with autism spectrum disorder more likely to prefer mutual gain over self-interest in cooperation.


Autism ◽  
2021 ◽  
pp. 136236132110291
Author(s):  
Barry Wright ◽  
Helen Phillips ◽  
Victoria Allgar ◽  
Jennifer Sweetman ◽  
Rachel Hodkinson ◽  
...  

A Delphi consensus methodology was used to adapt the Autism Diagnostic Interview–Revised for the assessment of deaf children with suspected autism spectrum disorder. Each Autism Diagnostic Interview–Revised item was considered by a panel of nine international experts in terms of relevance and acceptability. Modifications were proposed and agreed by the expert panel for 45% of items. The pre-specified criterion for agreement between experts was set at 80% for each item. A first validation of the revised version, adapted for deaf children (Autism Diagnostic Interview–Revised Deaf Adaptation), was undertaken with a UK sample of 78 parents/carers of deaf children with autism spectrum disorder and 126 parents/carers with deaf children without autism spectrum disorder. When compared to National Institute for Health and Care Excellence guideline standard clinical assessments, the Autism Diagnostic Interview–Revised Deaf Adaptation diagnostic algorithm cut-off/threshold scores achieved a sensitivity of 89% (79%–96%) and specificity of 81% (70%–89%) for autism spectrum disorder. The alpha coefficients for each algorithm symptom domain ranged from 0.80 to 0.91, suggesting that the items had high internal consistency. Our findings indicate that the Autism Diagnostic Interview–Revised Deaf Adaptation is likely to be a useful measure for the assessment of deaf children with suspected autism spectrum disorder, although further research is needed. Lay abstract Autism assessment processes need to improve for deaf children as they are currently being diagnosed later than their hearing counterparts and misdiagnosis can occur. We took one of the most commonly used parent developmental interviews for autism spectrum disorder the Autism Diagnostic Interview–Revised and adapted it using international expert advice. Modifications were proposed and agreed by the expert panel for 45% of items; the remaining 55% of items were unchanged. We then tested the revised version, adapted for deaf children (Autism Diagnostic Interview–Revised Deaf Adaptation), in a UK sample of 78 parents/carers of deaf children with autism spectrum disorder and 126 parents/carers with deaf children without autism spectrum disorder. When compared to National Institute for Health and Care Excellence guideline standard clinical assessments, the Autism Diagnostic Interview–Revised Deaf Adaptation diagnostic algorithm threshold scores could identify those deaf children with a definite diagnosis (true autism spectrum disorder positives) well (sensitivity of 89% (79%–96%)) and those deaf children who did not have autism spectrum disorder (true autism spectrum disorder negatives) well (specificity of 81% (70%–89%)). Our findings indicate that the Autism Diagnostic Interview–Revised Deaf Adaptation is likely to prove a useful measure for the assessment of deaf children with suspected autism spectrum disorder and that further research would be helpful.


Autism ◽  
2021 ◽  
pp. 136236132110396
Author(s):  
Sarah Wittkopf ◽  
Sanna Stroth ◽  
Anika Langmann ◽  
Nicole Wolff ◽  
Veit Roessner ◽  
...  

Autism spectrum disorder shares many symptoms with other mental health disorders, and comorbid disorders such as mood and anxiety disorders are common, making the diagnostic process challenging. We aimed to explore the diagnostic accuracy of two standard autism spectrum disorder diagnostic instruments and to identify those behavioral items that best differentiate between autism spectrum disorder and mood and anxiety disorder in a naturalistic sample of patients utilizing autism spectrum disorder specialist services. The study included data of 847 participants (5–65 years of age, n = 586 with autism spectrum disorder, n = 261 with mood and anxiety disorder) all evaluated with the Autism Diagnostic Observation Schedule in the context of the diagnostic process. Data of the Autism Diagnostic Interview–Revised were available for 428 participants (5–51 years of age, n = 367 with autism spectrum disorder, n = 61 with mood and anxiety disorder). By means of binominal logistic regressions and an ensemble feature selection, we identified a subset of items that best differentiated between autism spectrum disorder and mood and anxiety disorder. Overall, the results indicate that a combination of communicational deficits and unusual and/or inappropriate social overtures differentiates autism spectrum disorder and mood and anxiety disorder. Aspects of social cognition are also relevant. Limitations of the current study and implications for research and practice are discussed. Lay abstract Symptoms of mood and anxiety disorders overlap with symptoms of autism spectrum disorder, making the diagnostic process challenging. This study found that a combination of communicational deficits and unusual and/or inappropriate social overtures facilitates differentiation between autism spectrum disorder and mood and anxiety disorders. Furthermore, the results confirm the essential need of a behavioral observation with the Autism Diagnostic Observation Schedule in combination with a full Autism Diagnostic Interview–Revised to support diagnostic decisions.


Autism ◽  
2020 ◽  
pp. 136236132097455
Author(s):  
Sayyed Ali Samadi ◽  
Roy McConkey ◽  
Ameneh Mahmoodizadeh

The assessment instruments for diagnosing children with autism spectrum disorder have been developed mostly in affluent, English-speaking countries. Among the most popular has been the Autism Diagnostic Interview–Revised. This article reports its use in Iran with the dual aims of confirming the factor structure of the revised Autism Diagnostic Interview when used to assess Iranian children for autism spectrum disorder and to identify the algorithms that best distinguish children with autism spectrum disorder from those who are developing typically and from those with intellectual disability. Study 1 contrasted the Autism Diagnostic Interview–Revised ratings given to 420 children with autism spectrum disorder from those of 110 typically developing children. In Study 2, the Autism Diagnostic Interview–Revised ratings of 720 children with autism spectrum disorder were compared with those of 172 children with intellectual disability, and from those with intellectual disability. Exploratory factor analyses identified one main factor that merged the social interaction and communication items of Autism Diagnostic Interview–Revised, but replicated the repetitive behaviour and verbal factors. Receiver operating characteristic analyses identified suitable cut-off points on the revised factor scores. Also, the age at which symptoms became apparent increased the sensitivity of the algorithm in distinguishing children with autism spectrum disorder from those with intellectual disability. These findings are in line with the Diagnostic and Statistical Manual of Mental Disorders (5th ed.), recommendations and suggest a commonality in autism spectrum disorder presentations across different nations. The methodology used in this research could guide similar adaptations of assessment instruments for use in other cultures. Lay abstract The diagnosis of autism spectrum disorder is a challenging task. Most of the current assessment scales have been developed in the West. The present study examines the applicability of one of the most used scales (the Autism Diagnostic Interview–Revised) in a Middle-Eastern culture. Two studies were undertaken. In the first, the Autism Diagnostic Interview–Revised ratings given to 420 children with autism spectrum disorder, aged 4–11 years, and 110 typically developing children were contrasted. In Study 2, the Autism Diagnostic Interview–Revised ratings of 720 children with autism spectrum disorder were compared with those of 172 children with intellectual disabilities to find out whether the Autism Diagnostic Interview–Revised scale would discriminate between these two types of developmental disabilities. The studies confirmed the acceptability of the scale to Iranian parents and assessors. However, the summary scores used to determine whether a child was likely to have autism spectrum disorder were recalculated on the two domains of social communication and repetitive behaviours, which were identified in the statistical analyses that are recommended for the evaluation of assessment scales. Thus the translated scale with the modified domain scoring proved very suitable for identifying Iranian children with autism spectrum disorder. Having a common tool such as Autism Diagnostic Interview–Revised will strengthen the opportunities to undertake cross-cultural research into the impact of autism spectrum disorder on the child and families.


2020 ◽  
Vol 218 (1) ◽  
pp. 20-27
Author(s):  
Danielle A. Baribeau ◽  
Simone Vigod ◽  
Eleanor Pullenayegum ◽  
Connor M. Kerns ◽  
Pat Mirenda ◽  
...  

BackgroundChildren with autism spectrum disorder (ASD) have increased susceptibility to anxiety disorders. Variation in a common ASD symptom, insistence on sameness behaviour, may predict future anxiety symptoms.AimsTo describe the joint heterogeneous longitudinal trajectories of insistence on sameness and anxiety in children with ASD and to characterise subgroups at higher risk for anxiety.MethodIn a longitudinal ASD cohort (n = 421), insistence on sameness behaviour was measured using the Autism Diagnostic Interview-Revised at approximately ages 3, 6 and 11 years. Anxiety was quantified at 8 time points between ages 3 and 11 years using the Child Behavior Checklist (CBCL) (parent report). Clusters of participants following similar trajectories were identified using group-based and joint trajectory modelling.ResultsThree insistence on sameness trajectories were identified: (a) ‘low-stable’ (41.7% of participants), (b) ‘moderate-increasing’ (52.0%) and (c) ‘high-peaking’ (i.e. increasing then stabilising/decreasing behaviour) (6.3%). Four anxiety trajectories were identified: (a) ‘low-increasing’ (51.0%), (b) ‘moderate-decreasing’ (16.2%), (c) ‘moderate-increasing’ (19.6%) and (d) ‘high-stable’ (13.1%). Of those assigned to the ‘high-peaking’ insistence on sameness trajectory, 95% jointly followed an anxiety trajectory that surpassed the threshold for clinical concern (T-score >65) by middle childhood (anxiety trajectories 3 or 4). Insistence on sameness and anxiety trajectories were similar in severity and direction for 64% of the sample; for 36%, incongruous patterns were seen (e.g. decreasing anxiety and increasing insistence on sameness).ConclusionsThe concurrent assessment of insistence on sameness behaviour and anxiety in ASD may help in understanding current symptom profiles and anticipating future trajectories. High preschool insistence on sameness in particular may be associated with elevated current or future anxiety symptoms.


2019 ◽  
pp. S307-S313
Author(s):  
T. JASENOVEC ◽  
D. RADOSINSKA ◽  
H. CELUSAKOVA ◽  
D. FILCIKOVA ◽  
K. BABINSKA ◽  
...  

Biomechanical properties of erythrocytes play an important role in health and disease. Deformability represents intrinsic property of erythrocytes to undergo deformation that is crucial for their passage through the narrow capillaries. The erythrocyte damage can lead to compromised tissue perfusion and consequently play a role in the pathogenesis of various diseases including neurological ones. Data available in databases indicate that erythrocytes in autism spectrum disorder (ASD) are altered. This may affect the clinical symptoms of ASD. The aim of our study was to determine erythrocyte deformability in 54 children with ASD and correlate it with clinical symptoms. We found significant negative correlation between erythrocyte deformability and score in C domain of the Autism Diagnostic Interview-Revised (ADI-R) diagnostic tool describing the measure of restrictive, repetitive, and stereotyped behaviors and interests, mainly observable in C1 and C2, but not in C3 and C4 subdomains. This supports the findings of other authors and suggest that behavioral domain C comprises of more subcategories with different underlying etiology. Our results also indicate that abnormalities in erythrocyte deformability may be involved in ASD pathomecha-nisms and contribute to its clinical manifestation. Further research is necessary to bring more data and identify erythrocyte deformability as prognostic biomarker in ASD.


2021 ◽  
Vol ahead-of-print (ahead-of-print) ◽  
Author(s):  
Saeid Bashirian ◽  
Ali Reza Soltanian ◽  
Mahdieh Seyedi ◽  
Salman Khazaei ◽  
Ensiyeh Jenabi ◽  
...  

Purpose The purpose of this paper is to assess the validity of the Autism Diagnostic Interview-Revised (ADI-R) in an Iranian population to determine its efficacy in identifying children with autism spectrum disorder (ASD) who parents have Persian-speaking parents. Design/methodology/approach A case–control study was performed in March until July 2020 in Hamadan city, Iran. The case group was children were examined by the clinicians used a coding scheme based on the DSM-IV criteria for ASD. The control group was all children in the family, including healthy siblings, were asked to participate in the study. The reliability, content and face validity were performed to assess the psychometric properties of the tool. Confirmatory factor analysis (CFA) was performed to evaluate the four-dimensional structure of the tool (Scores A, B, C and D). Statistical analysis was performed using AMOS for SPSS 21, and the statistical significant level was less than 0.05. Findings The quantitative content validity analysis revealed that the mean of content validity ratio (CVR) and content validity index (CVI) for all domains was 0.94 and 0.91, respectively. For CFA, four domains A, B, C and D were used and demonstrated a good fit (CFI = 0.92 and RMSEA = 0.06). The sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) in domains A, B (verbal), C and D were 100%. For domain B (non-verbal), the sensitivity, specificity, PPV and NPV were 86.7%, 100%, 100% and 88.2%, respectively. Research limitations/implications This study showed that ADI-R has sufficient ability to discriminate between children with ASD and those with no psychiatric diagnosis, and it is a reliable tool in Iran. The sensitivity and specificity for correctly diagnosing ASD was high, regardless of the age and cognitive level of the examiner. Originality/value To the best of the authors’ knowledge, this is the first paper on psychometric properties of ADI-R in children with ASD.


Autism ◽  
2017 ◽  
Vol 22 (5) ◽  
pp. 625-635 ◽  
Author(s):  
Gnakub Norbert Soke ◽  
Steven A Rosenberg ◽  
Cordelia Robinson Rosenberg ◽  
Roma A Vasa ◽  
Li-Ching Lee ◽  
...  

We assessed potential factors associated with “current” or “ever” self-injurious behaviors, reported in the Autism Diagnostic Interview–Revised, among children with autism spectrum disorder (n = 692) from the Study to Explore Early Development. Data on factors examined were obtained from questionnaires, standardized clinical instruments, and birth certificates. We employed a log-binomial regression to assess these associations. Although most associations were quite similar for currently and ever exhibiting self-injurious behaviors, a few differences were noted. We documented previously unreported associations of current self-injurious behaviors with maternal age and cesarean delivery, and ever self-injurious behaviors with maternal age, child sex, gestational age, and maternal race. We also confirmed previously reported associations with adaptive skills, somatic conditions (sleep, gastrointestinal, and sensory abnormalities), and other behavioral problems. These findings are informative for clinical practice and future research.


Sign in / Sign up

Export Citation Format

Share Document