Using the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule with Young Children with Developmental Delay: Evaluating Diagnostic Validity

Few studies have focused on the validity of the ADI-R and ADOS in the assessment of preschool children with developmental delay. This study aimed to evaluate the diagnostic validity of the ADI-R and the ADOS in young children. Two-hundred and nine children aged 20–55 months participated in the study, 120 of whom received a diagnosis of autism. ADI-R and ADOS diagnostic classifications were compared to consensus clinical diagnoses. Children with a clinical diagnosis of autism scored significantly higher on all algorithm domains of the ADI-R and ADOS. The ADOS performed better than the ADI-R in comparison to consensus clinical diagnosis. Characteristics of the ADI-R and ADOS false positive and false negative cases are explored. Further research is recommended in terms of examining which items of the ADI-R best predict a diagnosis of autism for very young children with developmental problems.     

Validity of the autism diagnostic interview-revised

The factor structure, internal consistency, and convergent validity of the Autism Diagnostic Interview-Revised (ADI-R) algorithm items were examined in a sample of 226 youngsters with pervasive developmental disabilities. Exploratory factor analyses indicated a three-factor solution closely resembling the original algorithm and explaining 38% of the variance, with one significant discrepancy: Unlike the algorithm, all nonverbal communication items were associated with the Social factor. Internal consistencies of domain scores ranged from .54 to .84. Correlations between ADI-R domain and total scores and instruments assessing adaptive behavior, psychopathology, and autism were examined. They indicated some similarities between constructs, but also that the ADI-R measures autism in a unique fashion.     

孤独症诊断访谈量表(修订本)的诊断效度及信度研究

目的：检验孤独症诊断访谈量表（修订本）的诊断效度及信度。方法：收集门诊孤独症（50例，孤独症组）及非孤独症（32例，非孤独症组）初诊病例，采用孤独症诊断访谈量表（修订本）对两组进行临床评定，评定者对诊断采用单盲控。结果：（1）诊断效度：在社会交互作用的16项中有15项（94％）、语言及交流的13项中有11项（85％）、刻板、局限、重复的兴趣与行为方式的8项中有4项（4／8）均具有诊断意义，均P＜0．01。（2）诊断信度：在社会交互作用的16项中有15项（94％）、语言及交流的13项中有10项（77％）、在刻板、局限、重复的兴趣与行为方式的8项中有3项（3／8），其Kappa值均＞0．677。结论：孤独症诊断访谈量表（修订本）各项目的诊断效度较好，评定者之间的一致性较高，临床适用性很强。     

Brief Report: Autism in Individuals with Down Syndrome

As an off-shoot of a study examining the reliability and validity of an adapted version of the Pre-Linguistic Autism Diagnostic Observation Schedule (A-PL-ADOS), 13 individuals with Down syndrome with IQs ranging between 24 and 48 were administered the Autism Diagnostic Interview-Revised (ADI-R) and the A-PL-ADOS, which are well-validated interview and observational diagnostic measures. Three out of 13 met lifetime criteria on the ADI-R, but none of these three showed behavior that met the criterion for autism on the A-PL-ADOS (although two nearly did so). However, two individuals did meet the A-PL-ADOS criterion and showed behavior that fell only just short of meeting lifetime criteria on the ADI-R. Altogether, 5 individuals with Down syndrome may be considered to show an autism spectrum disorder. Of the remaining 8, some showed a few autistic features, and some showed none. The findings raise both methodological and conceptual issues.     

Using the autism diagnostic interview--revised to increase phenotypic homogeneity in genetic studies of autism.

BACKGROUND: Many chromosomal regions for susceptibility to autism spectrum disorders (ASDs) have been identified, but few have reached genomewide significance. In response, researchers have attempted to increase the power of their analyses by stratifying samples to increase phenotypic homogeneity. Although homogeneity has typically been defined by a single variable, resultant groups often differ in other dimensions that may be directly pertinent. Group differences in age, gender, IQ, and measures of autism severity are examined as related to Autism Diagnostic Interview-Revised (ADI-R) domains previously used for subsetting or Quantitative Trait Analysis (QTL). METHODS: Participants were research participants and clinic referrals for assessment of possible autism. Assessments included the ADI-R, Autism Diagnostic Observation Schedule, Vineland Adaptive Behavior Scales, and a developmental or cognitive test. Data were collected for 983 individuals, ages 4 to 52 years, with diagnoses of autism and ASDs. RESULTS: Findings suggest that, of several potential grouping variables, only restricted and repetitive behaviors associated with Insistence on Sameness were independent of age, IQ, and autism severity. CONCLUSIONS: Results emphasize the potential unintended effects of stratification and the importance of understanding such interrelationships between phenotypic characteristics when defining subgroups or performing QTL.     

Use of the ADOS and ADI-R in children with psychosis: importance of clinical judgment

The Autism Diagnostic Observation Schedule (ADOS) and the Autism Diagnostic Interview - Revised (ADI-R) are considered to be the 'gold standard' in diagnostic evaluations for autism. Developed as research tools and now gaining wide clinical use, the ADOS/ADI-R assessment package has been demonstrated to differentiate children with autism from those with other developmental disabilities; however, little work concerning the reliability and validity of the tools in children with a known history of psychosis has been undertaken. We report on the administration of the ADOS, ADI-R and clinical judgment in three cases of Childhood-Onset Schizophrenia. All 3 children met both ADOS and ADI-R criteria for an autism spectrum diagnosis, even though none of them received a clinical diagnosis of autism from either a research child psychiatrist or an experienced clinically trained, research psychologist with expertise in autism. Issues concerning overlap of symptom presentation and implications for research and clinical use of these assessment tools are discussed.     

Brief Report: Excluding the ADI-R Behavioral Domain Improves Diagnostic Agreement in Toddlers

Past research shows poor agreement between the Autism Diagnostic Interview-Revised (ADI-R) and other diagnostic measures in toddlers. Our goal was to examine whether exclusion of the ADI-R behavioral domain results in improved diagnostic agreement. Toddlers aged 16–37 months (M = 26 months) received an evaluation because they failed the Modified Checklist for Autism in Toddlers (n = 142). Evaluations included the ADI-R, Autism Diagnostic Observation Schedule, Childhood Autism Rating Scale, and clinical judgment. Results found poor to fair agreement between the ADI-R and other measures; agreement improved when the ADI-R behavioral domain was excluded. These findings suggest that stereotyped interests and behaviors are not as relevant to the ADI-R as other diagnostic criteria when evaluating toddlers for autism spectrum disorders.     

Performance of the Social Communication Questionnaire in children receiving preschool special education services

To assess the performance of the Social Communication Questionnaire (SCQ) in identifying children with autism spectrum disorders (ASD), this study screened 268 children identified as receiving preschool special education services. Parent-reported ASD diagnosis, education department recorded autism special education classification, ADI-R autism, and ADOS autism and ASD were considered as alternative criterion measures of ASD diagnosis. The validity of the SCQ in this population was examined, with a special focus on examining alternative cut-points for indicating ASD. The predictive ability of the SCQ in this population was comparable to that reported for other samples. In addition, findings suggested that a cut-point below the recommended threshold would likely be useful for research studies seeking to identify ASD cases from the population of children receiving special education services. The cut-point selected for use in clinical settings may, however, differ.     

Diagnostic procedures in autism spectrum disorders: a systematic literature review

At present, ‘gold standard’ diagnosis of autism spectrum disorders (ASD) is a lengthy and time consuming process that requires suitably qualified multi-disciplinary team (MDT) personnel to assess behavioural, historical, and parent-report information to determine a diagnosis. A number of different tools have been developed to assist in determination. To optimise the diagnostic procedures, the best diagnostic instruments need to be identified. This study is a systematic review addressing the accuracy, reliability, validity and utility of reported diagnostic tools and assessments. To be included in this review, studies must have (1) identified an ASD diagnostic tool; (2) investigated either diagnostic procedure or the tools or personnel required; (3) be presented in English; (4) be conducted in the Western world; (5) be one of three types of studies [adapted from Samtani et al. in Cochrane Database Syst Rev 3:1–13, 2011], viz. (a) cohort studies or cross-sectional studies, (b) randomised studies of test accuracy, (c) case–control studies. MEDLINE, PsychINFO, Scopus, EMBASE, and Cochrane Library databases were scrutinised for relevant literature published from 2000 inclusive on 20th January 2012. In total, 68 articles were included. 17 tools were assessed. However, many lacked an evidence base of high quality-independent studies. The Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule (ADOS) stood out with the largest evidence base and highest sensitivity and specificity. When the ADI-R and ADOS were used in combination they revealed levels of accuracy very similar to the correct classification rates for the current ‘gold standard’ diagnostic procedure viz. 80.8 % for ASD. There is scope for future studies on the use of the ADI-R and ADOS in combination.     

Sensitivity and specificity of the autism diagnostic inventory-telephone screening in Spanish

We report on the development in Argentina of a screening questionnaire for autism administered over the telephone. The Autism Diagnostic Inventory-Telephone Screening in Spanish (ADI-TSS) is based on the Autism Diagnostic Interview-Revised (ADI-R), keeping its structure but including fewer questions, which were rephrased to assess them over the telephone. The ADI-TSS went through different versions, with each modification gaining in reliability. The final version of the ADI-TSS could be assessed in 20 to 40 minutes and demonstrated a high validity (using the ADI-R as the diagnostic gold-standard), high intrarater and interrater reliability (as measured with intraclass correlations), and high internal consistency (as measured with Cronbach's alpha). The validity of the ADI-TSS remained high when used by a health-related professional without formal training in the assessment of autistic patients. We believe the ADI-TSS is useful in field research studies as a screening instrument for patients with a potential diagnosis of autism, although future validation studies should include larger samples.     

Validating the Repetitive Behavior Scale-Revised in Young Children with Autism Spectrum Disorder

This study examined the factor structure of the Repetitive Behavior Scale-Revised (RBS-R) in a sample of 287 preschool-aged children with autism spectrum disorder (ASD). A confirmatory factor analysis was used to examine six competing structural models. Spearman’s rank order correlations were calculated to examine the associations between factor scores and variables of interest. The 3- and 5-factor models were selected as preferable on the basis of fit statistics and parsimony. For both models, the strongest correlations were with problem behavior scores on the Child Behavior Checklist and repetitive behavior scores on the ADI-R. Developmental index standard scores were not correlated with factors in either model. The results confirm the utility of the RBS-R as a measure of repetitive behaviors in young children with ASD.     

Performance on Cambridge Neuropsychological Test Automated Battery Subtests Sensitive to Frontal Lobe Function in People with Autistic Disorder: Evidence from the Collaborative Programs of Excellence in Autism Network

Recent structural and functional imaging work, as well as neuropathology and neuropsychology studies, provide strong empirical support for the involvement of frontal cortex in autism. The Cambridge Neuropsychological Test Automated Battery (CANTAB) is a computer-administered set of neuropsychological tests developed to examine specific components of cognition. Previous studies document the role of frontal cortex in performance of two CANTAB subtests: the Stockings of Cambridge, a planning task, and the Intradimensional/Extradimensional Shift task, a measure of cognitive set shifting. To examine the integrity of frontal functions, these subtests were administered to 79 participants with autism and 70 typical controls recruited from seven universities who are part of the Collaborative Programs of Excellence in Autism network. The two groups were matched on age, sex, and full-scale IQ. Significant group differences were found in performance on both subtests, with the autism group showing deficits in planning efficiency and extradimensional shifting relative to controls. Deficits were found in both lower- and higher-IQ individuals with autism across the age range of 6 to 47 years. Impairment on the CANTAB executive function subtests did not predict autism severity or specific autism symptoms (as measured by the ADI-R and ADOS), but it was correlated with adaptive behavior. If these CANTAB subtests do indeed measure prefrontal function, as suggested by previous research with animals and lesion patients, this adds to the accumulating evidence of frontal involvement in autism and indicates that this brain region should remain an active area of investigation.     

Agreement Among Four Diagnostic Instruments for Autism Spectrum Disorders in Toddlers

Autistic spectrum disorders (ASD) can be difficult to diagnose in toddlers. This study compared diagnostic measures (ADOS-G, ADI-R, CARS, and clinical judgment using DSM-IV criteria) applied to toddlers. Results indicated that the ADOS-G, CARS, and clinical judgment agreed with each other but not with the ADI-R. Many of the children classified with ASD by the other measures were not classified with autism by the ADI-R because they did not display enough repetitive behaviors and stereotyped interests. These results indicate that young children with ASD may not display repetitive behaviors and stereotyped interests, and for toddlers, the ADI-R would have a higher sensitivity if revised to include a diagnosis of PDD-NOS, for which the requirement of repetitive behaviors is less stringent.     

Obstetric and Parental Psychiatric Variables as Potential Predictors of Autism Severity

Associations between obstetric and parental psychiatric variables and subjects' Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule (ADOS) domain scores were examined using linear mixed effects models. Data for the 228 families studied were provided by the Autism Genetic Resource Exchange. Hypertension (P = 0.002), preeclampsia (P = 0.021) and generalized edema (P = 0.011) were associated with higher ADI-R communication scores. Hypertension (P = 0.011), albuminuria (P = 0.039) and generalized edema (P = 0.009) were associated with higher ADI-R repetitive behaviors scores. Parent depression was associated with higher ADI-R repetitive behaviors scores (P = 0.005), and parent anxiety with lower ADOS social/communication composite scores (P = 0.025). The associations between hypertension-related obstetric conditions and autistic severity warrant further investigation and raise intriguing questions regarding potential causal and modifying factors in autism.     

The Relationship Between Restrictive and Repetitive Behaviors in Individuals with Autism and Obsessive Compulsive Symptoms in Parents

This study investigated the relationship between repetitive behaviors in individuals with autism and obsessive-compulsive behaviors in parents. We hypothesized that repetitive behaviors in probands with autism would be associated with increased obsessive-compulsive behaviors in parents in sporadic families (1 known case of autism per family and no known history of autism). Parents with clinically significant Y-BOCS scores were more likely to have a family history of obsessive-compulsive disorder. The empirically derived Autism Diagnostic Interview-R (ADI-R) factor, Insistence on Sameness, was positively correlated with obsessive-compulsive behaviors in parents. Further, when probands were grouped on the basis of parental Y-BOCS scores (clinically significant versus non-clinically significant), probands whose parents had clinically significant Y-BOCS scores had higher ADI-R Insistence on Sameness factor scores. The findings of the current study of sporadic families extend previous work that has shown an association between restrictive/repetitive behaviors in probands with autism and obsessive-compulsive features in parents.     

The Autism Diagnostic Interview-Revised and the Childhood Autism Rating Scale: Differences Between Diagnostic Systems and Comparison Between Genders

Diagnoses for autism based on the Autism Diagnostic Interview-Revised (ADI-R) and the Childhood Autism Rating Scale (CARS) were examined for 83 individuals with suspected autism. Agreement between systems reached 85.7%. Participants receiving diagnosis of autism based on only one system were significantly younger in age than individuals receiving diagnoses according to both systems. Individuals who did not receive diagnosis of autism on the ADI-R had lower chronological and mental ages and lower CARS scores compared to individuals who received diagnosis of autism based on the ADI-R. Eighteen females and 18 males were matched to examine possible gender differences. No significant findings were revealed, suggesting that the symptoms of autism according to the ADI-R and CARS do not differ between males and females when matched for chronological and mental ages.     

Exploratory subsetting of autism families based on savant skills improves evidence of genetic linkage to 15q11-q13

OBJECTIVE: Autism displays a remarkably high heritability but a complex genetic etiology. One approach to identifying susceptibility loci under these conditions is to define more homogeneous subsets of families on the basis of genetically relevant phenotypic or biological characteristics that vary from case to case. METHOD: The authors performed a principal components analysis, using items from the Autism Diagnostic Interview, which resulted in six clusters of variables, five of which showed significant sib-sib correlation. The utility of these phenotypic subsets was tested in an exploratory genetic analysis of the autism candidate region on chromosome 15q11-q13. RESULTS: When the Collaborative Linkage Study of Autism sample was divided, on the basis of mean proband score for the "savant skills" cluster, the heterogeneity logarithm of the odds under a recessive model at D15S511, within the GABRB3 gene, increased from 0.6 to 2.6 in the subset of families in which probands had greater savant skills. CONCLUSIONS: These data are consistent with the genetic contribution of a 15q locus to autism susceptibility in a subset of affected individuals exhibiting savant skills. Similar types of skills have been noted in individuals with Prader-Willi syndrome, which results from deletions of this chromosomal region.     

Stability of the Autism Diagnostic Interview—Revised from Pre-School to Elementary School Age in Children with Autism Spectrum Disorders

This study examined the stability of scores on the ADI-R from pre-school to elementary school age in children with autism spectrum disorders (ASD). Participants were 35 children who, at T1, all had a clinical diagnosis of ASD. On initial assessment (mean age 3.5 years; SD 0.6 years), all met ADI-R algorithm criteria for autism. ADI-R assessments were repeated at follow up (FU; mean age 10.5 years; SD 0.8 years). Changes in ADI-R total, domain and ADI-R algorithm item scores were assessed. Twenty-eight children continued to score above the ADI-R cut-off for autism at FU, although significant decreases in ADI-R domain and item scores were also found. In conclusion while classification of children according to ADI-R criteria generally remained stable between pre-school and elementary school age, many children demonstrated significant improvements in symptom severity.     

Autism Spectrum Disorders and Symptoms in Children with Molecularly Confirmed 22q11.2 Deletion Syndrome

In this study, we assessed the presence of autism spectrum disorders (ASD) among children with a confirmed 22q11.2 deletion (n = 98). The children’s caregivers completed screening measures of ASD behaviors, and for those whose scores indicated significant levels of these behaviors, a standardized diagnostic interview (Autism Diagnostic Interview-Revised; ADI-R) was administered. Results demonstrated that over 20% of children (n = 22) were exhibiting significant levels of autism spectrum symptoms based on the screening measures. Based upon the ADI-R, 14 children qualified for a diagnosis of an ASD, and for 11 of those children a diagnosis of autism was most appropriate. These findings increase our knowledge of developmental disorders associated with the 22q11.2 deletion and point to avenues for future investigation.     

Association between the arginine vasopressin 1a receptor (AVPR1a) gene and autism in a family-based study: mediation by socialization skills

We examined three microsatellites in the arginine vasopressin 1a receptor gene (AVPR1a), two in the promoter region (RS1 and RS3) and an intronic microsatellite (AVR), for association with autism as well as scores on the Vineland Adaptive Behavior Scale (VABS), the Autism Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation Scale-Generic (ADOS-G), measures that are widely used to diagnose autism spectrum disorders. We tested for association between the AVPR1a microsatellites and autism in 116 families (128 probands diagnosed with the ADI-R and ADOS-G using a family-based association test (UNPHASED)). Testing each individual microsatellite showed significant transmission disequilibrium in these families with the AVR intronic microsatellite (UNPHASED: LRS=11.46, global P-value=0.009, df=3). Haplotype analysis of three microsatellites also showed significant association (LRS=144.94, df=103, global P=0.004). Additionally, significant association is observed between these three microsatellite haplotypes and the VABS scores (P=0.009), with the ADI-R (P=0.009) and the ADOS-G (P=0.0000765) diagnoses of autistic disorder versus pervasive developmental disorder-not otherwise specified (PDD-NOS) that were available for 47 of these probands. This is the third consecutive report of an association between the AVPR1a gene and autism spectrum disorders and in the current study a third microsatellite is shown to be associated with autism spectrum disorders as well as haplotypes consisting of all three markers. Importantly, the association appears to be mainly mediated by the role of the AVPR1a gene in shaping socialization skills, similar to its role in lower vertebrates.Molecular Psychiatry (2006) 11, 488-494. doi:10.1038/sj.mp.4001812; published online 7 March 2006.