Autism Diagnostic Observation Research Articles

Clinicians’ Experience of Remote Assessment of Autism Spectrum Disorder Within the Barnet CAMHS Service

Aims1. To evaluate clinicians’ experiences of the newly implemented remote ASD assessment process (due to COVID-19), including the long-term sustainability and potential standardisation of this approach; 2. To establish areas for improvement in this process and make further recommendations.MethodsMembers of the Neurodevelopmental MDT completed an online survey, whereby feedback was collected regarding the use of the Child Observation of Social Communication (COSC), which had been adapted for online use from the standardised Autism Diagnostic Observation (ADOS) Schedule by a senior Psychologist[.Participants also responded to questions on other assessment domains, including the Developmental, Dimensional and Diagnostic interview, feedback and formulation meetings. Questions included their comfort with performing the assessment, theirs views on the quality of care provided and any difficulties they faced. Survey data were collected on two occasions: between November and December 2020 and between July and August 2021.ResultsPositive Experiences63% of respondents in November-December 2020 reported that COSC was a good alternative whilst standardised ADOS was unavailable. This increased to 100% in July-August 2021. Quality of care delivered by COSC was rated to be the same as ADOS in 70% of participants November-December 2020; 25% felt quality of care delivered by COSC was better than ADOS in July-August 2021. 73% of participants reported they would continue to use the remote assessment in the November-December 2020 survey. This increased to 88% in July-August 2021. 33% of the clinicians were very comfortable with administering the COSC in July-August 2021, 56% were somewhat comfortable.Negative Experiences27% of the clinicians reported being somewhat uncomfortable with administering the COSC assessment in November-December 2020; 11% remained somewhat uncomfortable in July-August 2021. 30% of the participants rated the quality of care delivered by COSC worse than ADOS in November-December 2020. 37.5% rated this to be worse in July-August 2021. 77% of the respondents had technical or organisational difficulties, which could result in missing non-verbal cues during the assessment.ConclusionClinicians’ experiences improved over time and with practice (34% had delivered over 10 COSC assessments in July-Aug 2021). A hybrid model may increase the quality of care of the approach, as well as careful selection of cases which would be suitable for an online assessment. There is scope for the continued use of the remote ASD pathway, taking into account patient and clinician preferences, however patient feedback will be necessary as a next step in this evaluation.

A Comparison of Children Born Preterm and Full-Term on the Autism Spectrum in a Prospective Community Sample.

Introduction: Previous research suggests children diagnosed with autism spectrum disorder (ASD or “autism”) born extremely and very preterm face substantially delayed development than their peers born full-term. Further, children born preterm are proposed to show a unique behavioral phenotype, which may overlap with characteristics of autism, making it difficult to disentangle their clinical presentation. To clarify the presentation of autism in children born preterm, this study examined differences in key indicators of child development (expressive language, receptive language, fine motor, and visual reception) and characteristics of autism (social affect and repetitive, restricted behaviors).Materials and Methods: One fifty-eight children (136 full-term, twenty-two preterm) diagnosed with autism, aged 22–34 months, were identified prospectively using the Social Attention and Communication Surveillance tools during community-based, developmental surveillance checks in the second year of life. Those identified at “high likelihood” of an autism diagnosis were administered the Mullen Scales of Early Learning and the Autism Diagnostic Observation Schedule.Results: The children born preterm and full-term did not differ significantly in their fine motor, visual reception, expressive language, or receptive language skills. No significant differences in social affect and repetitive and restrictive behavior traits were found.Discussion: The findings of this study differs from previous research where children diagnosed with autism born very or extremely preterm were developmentally delayed and had greater autistic traits than their term-born peers. These null findings may relate to the large proportion of children born moderate to late preterm in this sample. This study was unique in its use of a community-based, prospectively identified sample of children diagnosed with autism at an early age. It may be that children in these groups differ from clinic- and hospital-based samples, that potential differences emerge later in development, or that within the autism spectrum, children born preterm and full-term develop similarly. It was concluded that within the current sample, at 2 years of age, children diagnosed with autism born preterm are similar to their peers born full-term. Thus, when clinicians identify characteristics of autism in children born preterm, it is important to refer the child for a diagnostic assessment for autism.

An initial examination of the psychometric properties of the Diagnostic Instrument for Social and Communication Disorders (DISCO-11) in a clinical sample of children with a diagnosis of Autism spectrum disorder.

The diagnostic interview for social and communication disorders (DISCO - 11; Wing 2006), is a semi-structured, interview-based instrument used in the diagnosis of children with autism spectrum disorder (ASD). This paper explores the psychometric properties of the DISCO-11 used in a specialist Paediatric clinical setting. Two key research questions were examined; (1) Does the factor structure of the DISCO-11 reflect the diagnostic and statistical manual 5th edition (DSM-5, American Psychiatric Association [APA], 2013) dyad of impairment in ASD? (2) Is there evidence of diagnostic stability over time using the DISCO? Review assessments of 65 children with ASD were carried out using standardised measures including the DISCO-11 and the autism diagnostic observation schedule. The results revealed two factors resembling the DSM-5 algorithms, as used in DISCO-11, which were named as social-communication, and restricted and repetitive behaviours. The reliability, for the overall DISCO score was good (Cronbach's alpha = 0.78). The social communication and social interaction subscale showed good reliability (Cronbach's Alpha = 0.77) as did the restricted and repetitive patterns of behaviour, interests or activities subscale (Cronbach's Alpha = 0.74). Acceptable internal reliability was found for the overall DISCO score and the subscales of social communication and social interaction and the restricted and repetitive patterns of behaviour, interests or activities. Test-retest showed good stability of diagnosis over time. This study supports that the DISCO-11 shows potential as a valid and reliable instrument that can be used both for clinical and research purposes.

Interaction of Treatment Intensity and Autism Severity on Frequency and Maturity of Spontaneous Communication in Toddlers with Autism Spectrum Disorder.

This study tested whether the effect of treatment intensity or treatment style on children's frequency and maturity of spontaneous communication varied by initial severity of disability. Eighty-seven toddlers with autism spectrum disorders were randomly assigned to either (a) 15 hrs per week of discrete trial teaching (DTT), (b) 25 hrs per week of DTT, (c) 15 hrs per week of a naturalistic developmental behavioral intervention (NDBI), or (d) 25 hrs per week of NDBI. Trained research staff implemented the 1:1 treatments in homes or educational centers over 12 months. We quantified the frequency and maturity of spontaneous communication during monthly 6-min communication samples. We quantified disability severity at Time 1 using the developmental quotient from the Mullen Scales of Early Learning and the total calibrated severity score from the Autism Diagnostic Observation Schedule-second edition. Higher levels of treatment intensity (i.e., more hours per week) benefited frequency and maturity of spontaneous communication growth rate only in children with relatively mild autism symptoms. Other results were nonsignificant. Autism Res 2020, 13: 1902-1912. © 2020 International Society for Autism Research and Wiley Periodicals LLC LAY SUMMARY: Eighty-seven toddlers with autism spectrum disorders were randomly assigned to 15 hrs per week of discrete trial teaching (DTT), 25 hrs per week of DTT, 15 hrs per week of a naturalistic developmental behavioral intervention (NDBI), or 25 hrs per week of NDBI. Trained research staff implemented the treatments in homes or educational centers over 12 months. More hours of treatment per week benefited frequency and maturity of spontaneous communication growth rate only in children with relatively mild autism symptoms. Other results were nonsignificant.

In Search of Biomarkers for Autism Spectrum Disorder.

Autism Spectrum Disorder (ASD) lacks validated measures of core social functions across development stages suitable for clinical trials. We assessed the concurrent validity between ASD clinical measures and putative biomarkers of core deficits, and their feasibility of implementation in human studies. Datasets from two adult ASD studies were combined (observational study [n = 19] and interventional study baseline data [n = 19]). Potential biomarkers included eye‐tracking, olfaction, and auditory and visual emotion recognition assessed via the Affective Speech Recognition test (ASR) and Reading‐the‐Mind‐in‐the‐Eyes Test (RMET). Current functioning was assessed with intelligence quotient (IQ), adaptive skill testing, and behavioral ratings. Autism severity was determined by the Autism Diagnostic Observation Scale‐2 and Social Communication Interaction Test (SCIT). Exploratory measures showed varying significant associations across ASD severity, adaptive skills, and behavior. Eye tracking endpoints showed little relationship to adaptive ability but correlated with severity and behavior. ASR scores significantly correlated with most adaptive behavior domains, as well as severity. Olfaction predicted visual and auditory emotion recognition. SCIT scores related moderately to multiple severity domains, and was the only measure not related with IQ. RMET accuracy was less related to ASD features. Eye tracking, SCIT, and ASR showed high test–retest reliability. We documented associations of proximal biomarkers of social functioning with multiple ASD dimensions. With the exception of SCIT, most correlations were modest, limiting utility as proxy measures of social communication. Feasibility and reliability were high for eye‐tracking, ASR, and SCIT. Overall, several novel experimental paradigms showed potential as social biomarkers or surrogate markers in ASD. Autism Research 2018, 11: 1567–1579. © 2018 The Authors. Autism Research published by International Society for Autism Research and Wiley Periodicals, Inc.Lay SummaryMore accurate measurements of treatment effects are needed to help the development of new drug treatments for autism spectrum disorders (ASD). This study evaluates the relationship between assessments designed to measure behaviors associated with social communication and cognition in ASD with clinical and diagnostic assessments of symptom severity as well as their implementation. The assessments including eye‐tracking, auditory and visual social stimuli recognition, and olfaction identification showed potential for use in the evaluation of treatments for social difficulties in ASD.

Development of fine motor skills is associated with expressive language outcomes in infants at high and low risk for autism spectrum disorder

BackgroundA growing body of research suggests that fine motor abilities are associated with skills in a variety of domains in both typical and atypical development. In this study, we investigated developmental trajectories of fine motor skills between 6 and 24 months in relation to expressive language outcomes at 36 months in infants at high and low familial risk for autism spectrum disorder (ASD).MethodsParticipants included 71 high-risk infants without ASD diagnoses, 30 high-risk infants later diagnosed with ASD, and 69 low-risk infants without ASD diagnoses. As part of a prospective, longitudinal study, fine motor skills were assessed at 6, 12, 18, and 24 months of age and expressive language outcomes at 36 months using the Mullen Scales of Early Learning. Diagnosis of ASD was determined at the infant’s last visit to the lab (18, 24, or 36 months) using the Autism Diagnostic Observation Schedule.ResultsHierarchical linear modeling revealed that high-risk infants who later developed ASD showed significantly slower growth in fine motor skills between 6 and 24 months, compared to their typically developing peers. In contrast to group differences in growth from age 6 months, cross-sectional group differences emerged only in the second year of life. Also, fine motor skills at 6 months predicted expressive language outcomes at 3 years of age.ConclusionsThese results highlight the importance of utilizing longitudinal approaches in measuring early fine motor skills to reveal subtle group differences in infancy between ASD high-risk and low-risk infant populations and to predict their subsequent language outcomes.

22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening.

BackgroundWidespread use of microarray technology has led to increasing identification of 22q11.2 duplication syndrome (22q11.2DupS), the reciprocal syndrome of the well-characterized 22q11.2 deletion syndrome (22q11.2DS). Individuals with 22q11.2DS have elevated rates of community diagnoses of autism spectrum disorder (ASD), schizophrenia, and a range of medical problems and birth defects that necessitate extensive medical screening. Case reports of 22q11.2DupS include patients with ASD, fewer medical problems, and no schizophrenia; however, no prospective cohort study has been reported. The goals of the study were to (1) characterize the neuropsychiatric functioning of a cohort of individuals with 22q11.2DupS in comparison to large samples of typically developing controls (TDCs), ASD and 22q11.2DS; (2) estimate the prevalence of ASD in 22q11.2DupS; (3) determine whether the indications that prompted the genetic testing in 22q11.2DupS differ from 22q11.2DS and (4) determine whether comprehensive medical screening should be recommended for those diagnosed with 22q11.2DupS.MethodsMedical characterization was done by parental questionnaire and medical chart review of individuals with 22q11.2DupS (n = 37) and 22q11.2DS (n = 101). Neuropsychiatric characterization of children with 22.11.2DupS, 22q11.2DS, TDCs, and ASD was done by parent-report questionnaires; in addition, the ASD and 22q11.2DupS groups received the Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule.ResultsIndividuals with 22q11.2DupS, 22q11.2DS, and ASD had significantly impaired social interaction and adaptive behavior skills compared to TDCs. Overall, 38 % of children aged 2–18 with 22q11.2DupS had community diagnoses of ASD, but fewer (14–25 %) met on the basis of best clinical judgment that included ADI-R and ADOS data. Indications for genetic testing were significantly different for 22q11.2DupS and 22q11.2DS, with the deletions more commonly tested because of birth defects or medical problems, and the duplications because of developmental delay. However, when the screening protocol for 22q11.2DS was applied to the 22q11.2DupS sample, several medical problems were identified that would pose significant risk if left undetected.Conclusions22q11.2DupS has a high rate of ASD at 14–25 %, among the highest of any genetic disorder. Prospective medical screening should be done for all patients with 22q11.2DupS, including those diagnosed due to developmental delays and ASD alone.Electronic supplementary materialThe online version of this article (doi:10.1186/s13229-016-0090-z) contains supplementary material, which is available to authorized users.

The Autism Speaks Autism Treatment Network Registry Data: Opportunities for Investigators.

Patient registries can effectively collect data over a long period of time to provide a better understanding of the typical presentation of specific conditions. The autism spectrum disorders (ASDs) have experienced a marked increase in reported prevalence over the past 20 years for reasons that are not completely clear. The Autism Treatment Network (ATN) Registry was established to facilitate investigations into a variety of questions critical to expanding our understanding of ASDs. Here we describe the establishment of the registry, its components, some of its findings to date, and opportunities for further use of this data. Participants are eligible for enrollment into the ATN registry if they are between the ages of 2.0 and 17.6 years at the time of enrollment and meet criteria for ASD as determined by clinical consensus on the basis of specific diagnostic measures (Autism Diagnostic Observation Schedule/Autism Diagnostic Observation Schedule, Second Edition; Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition/Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition). Baseline measures include demographics, autism assessment, cognitive assessment data, behavioral data, sleep habits, quality of life, sensory data, and treatments. Several of the measures are collected at annual follow-up visits. More than 6800 children with ASD have been enrolled in the Autism Speaks ATN registry. Data from the registry have been reported at numerous scientific meetings and in several publications and have led to new recommendations for best practices in the management of ASD. A patient registry for children and adolescents with ASD has had and will continue to have a significant impact on care for this population. Investigators are encouraged to query this database to further its impact by testing novel hypotheses and conducting preliminary proof-of-concept analyses.

Early developmental trajectories associated with ASD in infants with tuberous sclerosis complex.

We performed a longitudinal cohort study of infants with tuberous sclerosis complex (TSC), with the overarching goal of defining early clinical, behavioral, and biological markers of autism spectrum disorder (ASD) in this high-risk population. Infants with TSC and typically developing controls were recruited as early as 3 months of age and followed longitudinally until 36 months of age. Data gathered at each time point included detailed seizure history, developmental testing using the Mullen Scales of Early Learning, and social-communication assessments using the Autism Observation Scale for Infants. At 18 to 36 months, a diagnostic evaluation for ASD was performed using the Autism Diagnostic Observation Schedule. Infants with TSC demonstrated delays confined to nonverbal abilities, particularly in the visual domain, which then generalized to more global delays by age 9 months. Twenty-two of 40 infants with TSC were diagnosed with ASD. Both 12-month cognitive ability and developmental trajectories over the second and third years of life differentiated the groups. By 12 months of age, the ASD group demonstrated significantly greater cognitive delays and a significant decline in nonverbal IQ from 12 to 36 months. This prospective study characterizes early developmental markers of ASD in infants with TSC. The early delay in visual reception and fine motor ability in the TSC group as a whole, coupled with the decline in nonverbal ability in infants diagnosed with ASD, suggests a domain-specific pathway to ASD that can inform more targeted interventions for these high-risk infants.

Absence of Preferential Looking to the Eyes of Approaching Adults Predicts Level of Social Disability in 2-Year-Old Toddlers With Autism Spectrum Disorder

Within the first week of life, typical human newborns give preferential attention to the eyes of others. Similar findings in other species suggest that attention to the eyes is a highly conserved phylogenetic mechanism of social development. For children with autism, however, diminished and aberrant eye contact is a lifelong hallmark of disability. To quantify preferential attention to the eyes of others at what is presently the earliest point of diagnosis in autism. We presented the children with 10 videos. Each video showed an actress looking directly into the camera, playing the role of caregiver, and engaging the viewer (playing pat-a-cake, peek-a-boo, etc). Children's visual fixation patterns were measured by eye tracking. Fifteen 2-year-old children with autism were compared with 36 typically developing children and with 15 developmentally delayed but nonautistic children. Preferential attention was measured as percentage of visual fixation time to 4 regions of interest: eyes, mouth, body, and object. Level of social disability was assessed by the Autism Diagnostic Observation Schedule. Looking at the eyes of others was significantly decreased in 2-year-old children with autism (P < .001), while looking at mouths was increased (P < .01) in comparison with both control groups. The 2 control groups were not distinguishable on the basis of fixation patterns. In addition, fixation on eyes by the children with autism correlated with their level of social disability; less fixation on eyes predicted greater social disability (r = -0.669, P < .01). Looking at the eyes of others is important in early social development and in social adaptation throughout one's life span. Our results indicate that in 2-year-old children with autism, this behavior is already derailed, suggesting critical consequences for development but also offering a potential biomarker for quantifying syndrome manifestation at this early age.