Autism Diagnostic Observation Schedule-Generic Research Articles

Psychometric properties of the Mandarin version of the autism diagnostic observation Schedule-Generic

The diagnosis of autism spectrum disorder (ASD), involving multiple components of clinical assessments, is challenging. The Autism Diagnostic Observation Schedule-Generic (ADOS-G), one of the standardized and validated instruments for ASD diagnostic evaluation, has been widely used in many countries. With the preparation of the Mandarin version of the ADOS-G (Mandarin-ADOS-G), this study aims to examine its psychometric properties, including reliability and validity. The sample included 554 individuals clinically diagnosed with ASD (477 males, 86.1%) and 50 typically developing (TD) individuals (29 males, 58.0%) who were assessed with different modules of the Mandarin-ADOS-G between 4.1 and 34.0 years old with a mean age of 13.0 years (Module 1, n=40; Module 2, n=46; Module 3, n=275; Module 4, n=243). We evaluated the inter-rater reliability, test-retest reliability, internal consistency, and concurrent validity with the Chinese Autism Diagnostic Interview-Revised (ADI-R) and Social Responsiveness Scale (SRS) caregiver-report and self-report forms. The discriminative validity of Mandarin-ADOS-G was also examined. The Mandarin-ADOS-G demonstrated good inter-rater reliability (agreement of ADOS classification 0.91), good test-retest reliability (intraclass correlations 0.55-0.73), and low to high good internal consistency (Cronbach's alpha 0.27-0.86). The concurrent validity showed significant correlations with ADI-R (Pearson correlations 0.22-0.37) and the SRS caregiver-report form (Pearson correlations 0.15-0.23). Moreover, all Mandarin-ADOS-G domains successfully differentiated autistic individuals from TD individuals (all p-values <0.001). The Mandarin-ADOS-G is a reliable and valid instrument for assisting the diagnosis of ASD in the Mandarin-speaking population.

The Positive and Negative Syndrome Scale for Schizophrenia Autism Severity Scale (PAUSS) in young people with autism and schizophrenia

Schizophrenia spectrum disorders (SSD) share symptoms with autism spectrum disorders (ASD). Autistic phenotypic profiles in SSD may be associated with a poor prognosis. We aimed to assess the evidences for reliability and convergent validity of the Positive and Negative Syndrome Scale for Schizophrenia (PANSS) Autism Severity Scale (PAUSS) in a sample of young people with ASD and SSD, and to use the PAUSS to explore correlates of "autistic profiles" in the SSD sample. ASD (n=33, age=13-27 years) and SSD subjects (n=26, age=16-35 years) underwent PANSS, Autism Diagnostic Observation Schedule-Generic (ADOS-G), Autism Diagnostic Interview-Revised (ADI-R), and Social Responsiveness Scale (SRS) assessments. We derived PAUSS total/domain scores from the PANSS and applied these back-to-back with ADOS calibrated severity scores (CSS), ADI-R current behavior algorithm (CBA) scores, and SRS scores. Our results show evidence for an acceptable PAUSS score reliability and convergent validity both in the ASD and SSD samples. PAUSS total and socio-communication scores significantly correlated with ADOS Overall/Social Affect CSS, both in ASD and in SSD. SSD with higher PAUSS scores ("autistic-SSD") showed Overall/Social Affect CSS scores positioned in between ASD and "non-autistic SSD". The PAUSS total score was significantly associated with global functioning in SSD (adjusted R2=0.311). There seems to be evidence for the reliability and validity of PAUSS scores for quantifying autism symptom severity transdiagnostically and to identify "autistic phenotypes" in adolescents/young adults with SSD.

The Positive and Negative Syndrome Scale for Schizophrenia Autism Severity Scale (PAUSS) in young people with autism and schizophrenia

IntroductionSchizophrenia spectrum disorders (SSD) share symptoms with autism spectrum disorders (ASD). Autistic phenotypic profiles in SSD may be associated with a poor prognosis. We aimed to assess the evidences for reliability and convergent validity of the Positive and Negative Syndrome Scale for Schizophrenia (PANSS) Autism Severity Scale (PAUSS) in a sample of young people with ASD and SSD, and to use the PAUSS to explore correlates of “autistic profiles” in the SSD sample. Materials and methodsASD (n=33, age=13–27 years) and SSD subjects (n=26, age=16–35 years) underwent PANSS, Autism Diagnostic Observation Schedule-Generic (ADOS-G), Autism Diagnostic Interview-Revised (ADI-R), and Social Responsiveness Scale (SRS) assessments. We derived PAUSS total/domain scores from the PANSS and applied these back-to-back with ADOS calibrated severity scores (CSS), ADI-R current behavior algorithm (CBA) scores, and SRS scores. ResultsOur results show evidence for an acceptable PAUSS score reliability and convergent validity both in the ASD and SSD samples. PAUSS total and socio-communication scores significantly correlated with ADOS Overall/Social Affect CSS, both in ASD and in SSD. SSD with higher PAUSS scores (“autistic-SSD”) showed Overall/Social Affect CSS scores positioned in between ASD and “non-autistic SSD”. The PAUSS total score was significantly associated with global functioning in SSD (adjusted R2=0.311). ConclusionsThere seems to be evidence for the reliability and validity of PAUSS scores for quantifying autism symptom severity transdiagnostically and to identify “autistic phenotypes” in adolescents/young adults with SSD.

Predicting the diagnosis of autism in adults using the Autism-Spectrum Quotient (AQ) questionnaire.

Many adults with autism spectrum disorder (ASD) remain undiagnosed. Specialist assessment clinics enable the detection of these cases, but such services are often overstretched. It has been proposed that unnecessary referrals to these services could be reduced by prioritizing individuals who score highly on the Autism-Spectrum Quotient (AQ), a self-report questionnaire measure of autistic traits. However, the ability of the AQ to predict who will go on to receive a diagnosis of ASD in adults is unclear. We studied 476 adults, seen consecutively at a national ASD diagnostic referral service for suspected ASD. We tested AQ scores as predictors of ASD diagnosis made by expert clinicians according to International Classification of Diseases (ICD)-10 criteria, informed by the Autism Diagnostic Observation Schedule-Generic (ADOS-G) and Autism Diagnostic Interview-Revised (ADI-R) assessments. Of the participants, 73% received a clinical diagnosis of ASD. Self-report AQ scores did not significantly predict receipt of a diagnosis. While AQ scores provided high sensitivity of 0.77 [95% confidence interval (CI) 0.72-0.82] and positive predictive value of 0.76 (95% CI 0.70-0.80), the specificity of 0.29 (95% CI 0.20-0.38) and negative predictive value of 0.36 (95% CI 0.22-0.40) were low. Thus, 64% of those who scored below the AQ cut-off were 'false negatives' who did in fact have ASD. Co-morbidity data revealed that generalized anxiety disorder may 'mimic' ASD and inflate AQ scores, leading to false positives. The AQ's utility for screening referrals was limited in this sample. Recommendations supporting the AQ's role in the assessment of adult ASD, e.g. UK NICE guidelines, may need to be reconsidered.

Autism in Toddlers Born Very Preterm.

This study aimed to determine the prevalence of autism spectrum disorder (ASD) by using the Autism Diagnostic Observation Schedule-Generic (ADOS-G) classifications in children born very preterm during their toddler years. Two birth cohorts of toddlers (2 and 4 years old) each recruited over 12 months and born at <29 weeks' gestation were administered the Modified Checklist of Autism in Toddlers-Follow-up Interview (M-CHAT-FI) screen, the ADOS-G, and developmental assessments. The ADOS-G was conducted on toddlers with M-CHAT-FI-positive screens. Data were available on 88% (169/192) of children. In total, 22 (13%) toddlers screened positive and 3 (1.8%) were confirmed diagnostically with ASD. These 3 cases reached the highest ADOS-G threshold classification of autism. All but 1 child who scored below the ADOS-G thresholds (11/12) demonstrated some difficulty with social communication. Risk was significantly increased for co-occurring neurodevelopmental problems in 21 of the 22 positive-screen ASD cases. Adaptive behavior (P < .001) was the only co-occurring factor independently predictive of ASD in toddlers. Children born very preterm are at increased risk of ASD. By using the ADOS-G, we found a lower incidence of ASD in children born at <29 weeks' gestation compared with previous studies. Children who screened positive for ASD on the M-CHAT-FI had developmental delays consistent with subthreshold communication impairment.

Brain Diffusion Tensor Imaging and Volumetric Analysis: Grey and White Matter Changes in Preschool Children with Autism Spectrum Disorder

We aimed to investigate whether DTI metrics and volumetric analysis could detect regional abnormalities in young Autism Spectrum Disorder (ASD) children. A sample of 22 pre-school children affected by ASD and a group of 10 age-matched controls underwent a conventional and advanced MRI protocol, including DTI and 3D T1- weighted imaging. Volumetric analysis revealed no significant differences between the ASD children and the controls, while the DTI results suggested an early involvement of both the cerebellum and the supratentorial grey matter (GM) in young ASD children, with fractional anisotropy (FA) emerging the most sensitive parameter.GM-FA changes correlated with Autism Diagnostic Observation Schedule-Generic (ADOS-G) and the Autism Diagnostic Interview-Revised (ADI-R). Further investigation in a larger sample is warranted in order to confirm a potential primary role of GM versus WM changes in the complex aetiopathogenesis of ASD.

Lateralization of Brain Networks and Clinical Severity in Toddlers with Autism Spectrum Disorder: A HARDI Diffusion MRI Study.

Recent diffusion tensor imaging studies in adolescents and children with Autism Spectrum Disorder (ASD) have reported a loss or an inversion of the typical left-right lateralization in fronto-temporal regions crucial for sociocommunicative skills. No studies explored atypical lateralization in toddlers and its correlation with clinical severity of ASD. We recruited a cohort of 20 subjects aged 36 months or younger receiving a first clinical diagnosis of ASD (15 males; age range 20-36 months). Patients underwent diffusion MRI (High-Angular-Resolution Diffusion Imaging protocol). Data from cortical parcellation were combined with tractography to obtain a connection matrix and diffusion indexes (DI ) including mean fractional anisotropy (DFA ), number of tracts (DNUM ), and total tract length (DTTL ). A laterality index was generated for each measure, and then correlated with the Autism Diagnostic Observation Schedule-Generic (ADOS-G) total score. Laterality indexes of DFA were significantly correlated with ADOS-G total scores only in two intrafrontal connected areas (correlation was positive in one case and negative in the other). Laterality indexes of DTTL and DNUM showed significant negative correlations (P < 0.05) in six connected areas, mainly fronto-temporal. This study provides first evidence of a significant correlation between brain lateralization of diffusion indexes and clinical severity in toddlers with a first diagnosis of ASD. Significant correlations mainly involved regions within the fronto-temporal circuits, known to be crucial for sociocommunicative skills. It is of interest that all correlations but one were negative, suggesting an inversion of the typical left-right asymmetry in subjects with most severe clinical impairment.

Does treatment have an impact on incidence and risk factors for autism spectrum disorders in children with infantile spasms?

Infantile spasms (IS) are a severe form of childhood epilepsy associated with autism spectrum disorders (ASD) in up to 35% of cases. The objective of this post hoc analysis of our randomized control trial was to determine whether rapid diagnosis and treatment of IS could limit the incidence of ASD while identifying risk factors related to ASD outcome. Patients with IS were randomized in a standardized diagnostic and treatment protocol. Clinical and electroencephalogram (EEG) evaluations were completed at all eight visits over 5 years, while cognitive evaluations were administered at 0, 6, 24 and 60 months, respectively. Autism was initially screened by means of the Checklist for Autism in Toddlers (CHAT) at 24 months, and formally assessed at the 30-and 60-month follow-ups using the Autism Diagnostic Observation Schedule-Generic (ADOS-G). Of the 69 patients included in the study, 25 could not be assessed due to severe delay or death. Eleven of the 42 patients screened with CHAT, were found to be at risk of an ASD outcome. ADOS was performed in 44 and 10 were diagnosed with ASD. The CHAT proved to correlate highly with the ADOS (80% ppv). Only patients with symptomatic IS developed ASD (p = 0.003). Earlier diagnosis or successful treatment did not correlate with a reduced rate of ASD. Other risk factors were identified such as having chronic epileptic discharges in the frontotemporal areas after disappearance of hypsarrhythmia (p = 0.005 and p = 0.007) and being of nonwhite origin (p = 0.009). ASD was only observed in children with sympyomatic IS. Other clinical risk factors include chronic frontotemporal epileptic activity and being of non-white origin. Early diagnosis and treatment did not prevent ASD as an outcome of IS. However, patients at risk for ASD could be identified early on and should in the future benefit from early intervention to potentially improve their long-term outcome.

Testing the accuracy of an observation-based classifier for rapid detection of autism risk.

Current approaches for diagnosing autism have high diagnostic validity but are time consuming and can contribute to delays in arriving at an official diagnosis. In a pilot study, we used machine learning to derive a classifier that represented a 72% reduction in length from the gold-standard Autism Diagnostic Observation Schedule-Generic (ADOS-G), while retaining >97% statistical accuracy. The pilot study focused on a relatively small sample of children with and without autism. The present study sought to further test the accuracy of the classifier (termed the observation-based classifier (OBC)) on an independent sample of 2616 children scored using ADOS from five data repositories and including both spectrum (n=2333) and non-spectrum (n=283) individuals. We tested OBC outcomes against the outcomes provided by the original and current ADOS algorithms, the best estimate clinical diagnosis, and the comparison score severity metric associated with ADOS-2. The OBC was significantly correlated with the ADOS-G (r=−0.814) and ADOS-2 (r=−0.779) and exhibited >97% sensitivity and >77% specificity in comparison to both ADOS algorithm scores. The correspondence to the best estimate clinical diagnosis was also high (accuracy=96.8%), with sensitivity of 97.1% and specificity of 83.3%. The correlation between the OBC score and the comparison score was significant (r=−0.628), suggesting that the OBC provides both a classification as well as a measure of severity of the phenotype. These results further demonstrate the accuracy of the OBC and suggest that reductions in the process of detecting and monitoring autism are possible.

Treatment mechanism in the MRC preschool autism communication trial: implications for study design and parent-focussed therapy for children.

The PACT randomised-controlled trial evaluated a parent-mediated communication-focused treatment for children with autism, intended to reduce symptom severity as measured by a modified Autism Diagnostic Observation Schedule-Generic (ADOS-G) algorithm score. The therapy targeted parental behaviour, with no direct interaction between therapist and child. While nonsignificant group differences were found on ADOS-G score, significant group differences were found for both parent and child intermediate outcomes. This study aimed to better understand the mechanism by which the PACT treatment influenced changes in child behaviour though the targeted parent behaviour. Mediation analysis was used to assess the direct and indirect effects of treatment via parent behaviour on child behaviour and via child behaviour on ADOS-G score. Alternative mediation was explored to study whether the treatment effect acted as hypothesised or via another plausible pathway. Mediation models typically assume no unobserved confounding between mediator and outcome and no measurement error in the mediator. We show how to better exploit the information often available within a trial to begin to address these issues, examining scope for instrumental variable and measurement error models. Estimates of mediation changed substantially when account was taken of the confounder effects of the baseline value of the mediator and of measurement error. Our best estimates that accounted for both suggested that the treatment effect on the ADOS-G score was very substantially mediated by parent synchrony and child initiations. The results highlighted the value of repeated measurement of mediators during trials. The theoretical model underlying the PACT treatment was supported. However, the substantial fall-off in treatment effect highlighted both the need for additional data and for additional target behaviours for therapy.

The Potential of Accelerating Early Detection of Autism through Content Analysis of YouTube Videos

Autism is on the rise, with 1 in 88 children receiving a diagnosis in the United States, yet the process for diagnosis remains cumbersome and time consuming. Research has shown that home videos of children can help increase the accuracy of diagnosis. However the use of videos in the diagnostic process is uncommon. In the present study, we assessed the feasibility of applying a gold-standard diagnostic instrument to brief and unstructured home videos and tested whether video analysis can enable more rapid detection of the core features of autism outside of clinical environments. We collected 100 public videos from YouTube of children ages 1–15 with either a self-reported diagnosis of an ASD (N = 45) or not (N = 55). Four non-clinical raters independently scored all videos using one of the most widely adopted tools for behavioral diagnosis of autism, the Autism Diagnostic Observation Schedule-Generic (ADOS). The classification accuracy was 96.8%, with 94.1% sensitivity and 100% specificity, the inter-rater correlation for the behavioral domains on the ADOS was 0.88, and the diagnoses matched a trained clinician in all but 3 of 22 randomly selected video cases. Despite the diversity of videos and non-clinical raters, our results indicate that it is possible to achieve high classification accuracy, sensitivity, and specificity as well as clinically acceptable inter-rater reliability with nonclinical personnel. Our results also demonstrate the potential for video-based detection of autism in short, unstructured home videos and further suggests that at least a percentage of the effort associated with detection and monitoring of autism may be mobilized and moved outside of traditional clinical environments.

Exploratory study describing 6 month outcomes for young children with autism who receive treatment as usual in Italy.

BackgroundIn the last few years, the results of different studies have confirmed, in different ways, the importance of early intervention for autism. This study aims to evaluate the role of early “as usual” interventions in the outcome of toddlers diagnosed with autism spectrum disorder (ASD).MethodSeventy children with ASD aged between 24 and 48 months were recruited at different centers in Italy. They were evaluated by blind researchers at baseline and after 6 months of using Autism Diagnostic Observation Schedule-Generic (ADOS-G), Griffiths Mental Developmental Scales, and Vineland Adaptive Behavior scales. Parents filled out the MacArthur Inventory, Social Communication Questionnaire, and Child Behavior Check List. All children were referred to community providers for available interventions.ResultsAt the endpoint, most of the children were still classified as having an ADOS-G classification of ASD. However, 21 (34.2%) passed from autism to autism spectrum, and 3 (4.2%) passed from autism spectrum to no spectrum. Treatment effects were obtained for cognitive functioning, language, adaptive behavior, and child behavior without differences between development-oriented and behavior-oriented interventions. Parent involvement was a mediator for the best clinical outcome. Baseline low impairments of communication, language comprehension, and gesture were predictors of positive outcome.ConclusionTreatment as usual, composed of individual therapy plus school-supported inclusion, may be an effective intervention in ASD. Better initial levels of communication in child and parent involvement during treatment have an important role for a positive outcome.

Self-Perceived Health of Parents of Children with Autism Spectrum Disorders: Relation with the Severity Level

Children with autism spectrum disorders (ASD) are characterized by deficits in reciprocal social interaction and communication which have a major effect on the quality of life of the parents. Self-perceived health of 124 ASD parents was investigated using the short-form health survey (SF-36) questionnaire. In a first step, comparative analysis was performed between a control group of parents and three groups of ASD parents classified according to the severity levels for autism spectrum disorder. In a second step, correlation analysis was performed between the self-perceived health of ASD parents and a continuous rating scale of the severity level of ASD children, determined with the Childhood Autistic Rating Scale (CARS) and the Autism Diagnostic Observation Schedule-Generic (ADOS-G). Results show that as the severity level of ASD symptoms increase, mother’s perception of their own health decreases. Statistical analysis revealed a very strong relationship between the Mental Health of the mothers and the ASD children, especially with the deficit in social interaction. Restrictive and repetitive behavior and difficulty in play have less direct impact on the quality of life of ASD mothers. The highest impairment in quality of life was observed for the mothers of severe autism children, in the time spent at work and the difficulty to perform activities, due to mental and physical problems. Relationship between fathers and ASD children is significantly lower than that observed for mothers, except for problems with work or other daily activities as a result of physical health. These finding must be taken into account to provide better and more focused support to ASD mothers, in order to improve the mental health and to reduce the difficulty in performing activities.

The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses.

BackgroundThere is an urgent need for expanding and enhancing autism spectrum disorder (ASD) samples, in order to better understand causes of ASD.MethodsIn a unique public-private partnership, 13 sites with extensive experience in both the assessment and diagnosis of ASD embarked on an ambitious, 2-year program to collect samples for genetic and phenotypic research and begin analyses on these samples. The program was called The Autism Simplex Collection (TASC). TASC sample collection began in 2008 and was completed in 2010, and included nine sites from North America and four sites from Western Europe, as well as a centralized Data Coordinating Center.ResultsOver 1,700 trios are part of this collection, with DNA from transformed cells now available through the National Institute of Mental Health (NIMH). Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule-Generic (ADOS-G) measures are available for all probands, as are standardized IQ measures, Vineland Adaptive Behavioral Scales (VABS), the Social Responsiveness Scale (SRS), Peabody Picture Vocabulary Test (PPVT), and physical measures (height, weight, and head circumference). At almost every site, additional phenotypic measures were collected, including the Broad Autism Phenotype Questionnaire (BAPQ) and Repetitive Behavior Scale-Revised (RBS-R), as well as the non-word repetition scale, Communication Checklist (Children’s or Adult), and Aberrant Behavior Checklist (ABC). Moreover, for nearly 1,000 trios, the Autism Genome Project Consortium (AGP) has carried out Illumina 1 M SNP genotyping and called copy number variation (CNV) in the samples, with data being made available through the National Institutes of Health (NIH). Whole exome sequencing (WES) has been carried out in over 500 probands, together with ancestry matched controls, and this data is also available through the NIH. Additional WES is being carried out by the Autism Sequencing Consortium (ASC), where the focus is on sequencing complete trios. ASC sequencing for the first 1,000 samples (all from whole-blood DNA) is complete and data will be released in 2014. Data is being made available through NIH databases (database of Genotypes and Phenotypes (dbGaP) and National Database for Autism Research (NDAR)) with DNA released in Dist 11.0. Primary funding for the collection, genotyping, sequencing and distribution of TASC samples was provided by Autism Speaks and the NIH, including the National Institute of Mental Health (NIMH) and the National Human Genetics Research Institute (NHGRI).ConclusionsTASC represents an important sample set that leverages expert sites. Similar approaches, leveraging expert sites and ongoing studies, represent an important path towards further enhancing available ASD samples.

Confiabilidad interevaluador del K-SADS-PL-2009/trastornos del espectro autista (TEA)

El incremento en la prevalencia de los trastornos del espectro autista (TEA) provocó que dejaran de considerarse como poco frecuentes. La Entrevista Diagnóstica de Autismo Revisada (ADI-R; Autism Diagnostic Interview-Revised) y la Cédula de Observación General para el Diagnóstico del Autismo (ADOS-G, Autism Diagnostic Observation Schedule-Generic) se consideran estándares de oro para diagnósticar TEA. Sin embargo, ninguno de estos instrumentos evalúa la comorbilidad asociada. La nueva versión de la Entrevista de Diagnóstico Psiquiátrico para Niños y Adolescentes, K-SADS-PL-2009, agregó un apartado para el diagnóstico de los TEA. Objetivo. El propósito de este estudio fue traducir, adaptar y analizar la confiabilidad interevaluadora del K-SADS-PL-2009/TEA. Método. La muestra se conformó por 40 niños y adolescentes, de ambos sexos, con un rango de edad de cuatro a 17 años, con un diagnóstico presuntivo de trastorno del espectro autista. La versión original del K-SADS-PL-2009/TEA fue traducida al español por dos de los autores y retraducida al inglés por un traductor certificado ciego al estudio. Resultados. Confiabilidad interevaluador. Los coeficientes de correlación intraclase fueron de buenos a excelentes para los siguientes diagnósticos en el presente y pasado: autismo 0.79 y 0.74; trastorno de Asperger 0.85 y 1.0; trastorno generalizado del desarrollo no especificado (TGDNE) 0.72 y 0.41. Los coeficientes kappa para las evaluaciones realizadas por los expertos fueron de buenos a excelentes para los siguientes diagnósticos en el presente y en el pasado: autismo 0.89 y 0.87; Asperger 0.77 y 1.00; TGDNE 0.69 y 0.64. La concordancia entre el diagnóstico realizado en el servicio de urgencias y el corroborado posteriormente por medio del instrumento diagnóstico fue de 37.5%, con un índice de error diagnóstico de 67.5%. Conclusiones. El K-SADS-PL-2009/TEA mostró una buena confiabilidad interevaluador y puede usarse en niños y adolescentes mexicanos para propósitos clínicos y de investigación.

Des parents co-thérapeutes, une solution gagnante pour le traitement des enfants autistes

ObjectivesThis article aims to report on the effects of an intervention program carried out in a clinical context and destined to parents of autistic children. The program was part of a diagnostic evaluation process and sought to provide parents with essential support as soon as their child was diagnosed. It was also designed to increase their knowledge of autism's particular characteristics. MethodEach of the fourteen families participating in this research had a child aged between two and six years old who had been diagnosed with autism. They were assessed with the Autism Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation Schedule Generic (ADOS-G) by a team from Rivière-des-Prairies Hospital, in the Montreal area, specialized in Pervasive Developmental Disorder. The specification identified for this study was a quasi-experimental protocol with a pre- and post-test and a non-equivalent control group. The first eight families registered with the clinic were part of the experimental group; the other six formed the control group. The experimental group was composed of six boys and two girls whose average age was 48 months (span: 34–72). The implemented program contained two intervention targets: communication and the child's learning. Five individual sessions of approximately 90 minutes each were provided to each family. A psycho-educator directed activities chosen according to the developmental level of each child. Because one of the objectives of the program was to help parents intervene with their child, they were involved in the intervention each in turn, either by observing or by practising those intervention techniques identified for their child. In order to measure the change in parental practices, the Maternal Behavior Rating Scale was used. This observation table is composed of 12 items assessed with a Likert-type five-point scale, one meaning very low, and five meaning very elevated, evaluating four scales of parental educational practices designed to improve children's development: the parent's response (three items), the parent's animation (five items), the parent's support with the task (two items) and his or her authority (two items). The program's impact with the child was assessed with the Child Behavior Rating Scale, an observation table comprised of two scales recognized as preconditions to children's development: attention (four items) and initiation (two items). These items were assessed by two observers with a Likert-type five-point scale, one meaning very low and five meaning very elevated. Inter-rater coefficients varied between 0.88 and 0.93. ResultsVariance analyses undertaken from the results obtained with the Maternal Behavior Rating Scales and the Child Behavior Rating Scales before and after the intervention showed that both groups improved but that this improvement did not vary significantly from one group to the other. ConclusionsFour elements may help explain the absence of significant results. Firstly, all children except one were recipients of other services during the intervention. Secondly, with regards to the objective of helping parents better understand their child's diagnostic, five 90-minute individual sessions appeared to be sufficient, but obviously that was not the case. Thirdly, there were difficulties with the recruitment and the sample's non-homogeneity. Fourthly, over and above their good psychometric qualities, the two instruments used were not sufficiently attuned to more subtle changes. Finally, we must insist on the importance, especially in human and social sciences, of publishing results considered as negative in as much as those results form an integral part of the scientific process.

Long-Term Administration of Intranasal Oxytocin Is a Safe and Promising Therapy for Early Adolescent Boys with Autism Spectrum Disorders

Oxytocin (OT) has been a candidate for the treatment of autism spectrum disorders (ASD), and the impact of intranasally delivered OT on ASD has been investigated. However, most previous studies were conducted by single-dose administration to adults; and, therefore, the long-term effect of nasal OT on ASD patients and its effect on children remain to be clarified. We conducted a singled-armed, open-label study in which OT was administered intranasally over the long term to eight male youth with ASD (10-14 years of age; intelligence quotient [IQ] 20-101). The OT administration was performed in a stepwise increased dosage manner every 2 months (8, 16, 24 IU/dose). A placebo period (1-2 weeks) was inserted before each step. The outcome measures were autism diagnostic observation schedule--generic (ADOS-G), child behavior checklist (CBCL), and the aberrant behavior checklist (ABC). In addition, side effects were monitored by measuring blood pressure and examining urine and blood samples. Six of the eight participants showed improved scores on the communication and social interaction domains of the ADOS-G. However, regarding the T-scores of the CBCL and the scores of the ABC, we could not find any statistically significant improvement, although several subcategories showed a mild tendency for improvement. Caregivers of five of the eight participants reported certain positive effects of the OT therapy, especially on the quality of reciprocal communication. All participants showed excellent compliance and no side effects. Although our results on the efficacy of long-term nasal OT therapy still remain controversial, to the best of our knowledge, this is the first report documenting the safety of long-term nasal OT therapy for children with ASD. Even though our data are too preliminary to draw any definite conclusions about efficacy, they do suggest this therapy to be safe, promising, and worthy of a large-scale, double-blind placebo-controlled study.

Use of machine learning to shorten observation-based screening and diagnosis of autism

The Autism Diagnostic Observation Schedule-Generic (ADOS) is one of the most widely used instruments for behavioral evaluation of autism spectrum disorders. It is composed of four modules, each tailored for a specific group of individuals based on their language and developmental level. On average, a module takes between 30 and 60 min to deliver. We used a series of machine-learning algorithms to study the complete set of scores from Module 1 of the ADOS available at the Autism Genetic Resource Exchange (AGRE) for 612 individuals with a classification of autism and 15 non-spectrum individuals from both AGRE and the Boston Autism Consortium (AC). Our analysis indicated that 8 of the 29 items contained in Module 1 of the ADOS were sufficient to classify autism with 100% accuracy. We further validated the accuracy of this eight-item classifier against complete sets of scores from two independent sources, a collection of 110 individuals with autism from AC and a collection of 336 individuals with autism from the Simons Foundation. In both cases, our classifier performed with nearly 100% sensitivity, correctly classifying all but two of the individuals from these two resources with a diagnosis of autism, and with 94% specificity on a collection of observed and simulated non-spectrum controls. The classifier contained several elements found in the ADOS algorithm, demonstrating high test validity, and also resulted in a quantitative score that measures classification confidence and extremeness of the phenotype. With incidence rates rising, the ability to classify autism effectively and quickly requires careful design of assessment and diagnostic tools. Given the brevity, accuracy and quantitative nature of the classifier, results from this study may prove valuable in the development of mobile tools for preliminary evaluation and clinical prioritization—in particular those focused on assessment of short home videos of children—that speed the pace of initial evaluation and broaden the reach to a significantly larger percentage of the population at risk.

A comparison of a specialist autism spectrum disorder assessment team with local assessment teams

Early diagnosis of autism spectrum disorders (ASD) is of crucial importance, but lengthy delays are common. We examined whether this issue could be reliably addressed by local teams trained by a specialist ASD assessment team. Four local teams were trained in diagnostic assessment. Their assessments of 38 children and young people using the Autism Diagnostic Observation Schedule-Generic (ADOS-G) were video recorded and independently assessed by the specialist team. There was a high level of correspondence between the diagnoses of the local teams and of the specialist team. The number of assessments carried out increased and there was a considerable reduction in waiting times. This study has demonstrated the potential feasibility of creating local, multi-agency ASD assessment teams, which will serve to reduce waiting times, improve clinical skills at a lower level of specialism and thereby improve the overall quality of ASD services.

Twins with KBG Syndrome and Autism

Twins with KBG Syndrome and Autism