Whitney Guthrie

Parent-implemented social intervention for toddlers with autism: an RCT.

OBJECTIVES: To compare the effects of two 9-month parent-implemented interventions within the Early Social Interaction (ESI) Project. Both individual-ESI, offered 2 or 3 times per week at home or in the community, and group-ESI, offered once per week in a clinic, taught parents how to embed strategies to support social communication throughout everyday activities. METHODS: Participants in the randomized controlled trial included 82 children diagnosed with autism spectrum disorder at 16 to 20 months. Children were matched on pretreatment nonverbal developmental level and pairs were randomly assigned to treatment condition. Child outcomes included measures of social communication, autism symptoms, adaptive behavior, and developmental level. Child outcomes are reported from baseline to the end of the 9-month interventions. RESULTS: Children in individual-ESI showed differential change on a standardized examiner-administered observational measure of social communication, as they improved at a faster rate than children in group-ESI. Individual-ESI also showed differential efficacy on a parent report measure of communication, daily living, and social skills, as they showed improvement or stability, whereas group-ESI led to worsening or no significant change on these skills. Finally, individual-ESI showed differential change on examiner-administered measures of receptive language skills, as children in individual-ESI improved significantly, whereas group-ESI showed no change. CONCLUSIONS: These findings support the efficacy of individual-ESI compared with group-ESI on child outcomes, suggesting the importance of individualized parent coaching in natural environments. The efficacy of a parent-implemented intervention using little professional time has potential for community viability, which is particularly important in light of the lack of main effects on child outcomes of most other parent-implemented interventions.

Convergent validity of the Mullen Scales of Early Learning and the differential ability scales in children with autism spectrum disorders.

Despite widespread use of the Mullen Scales of Early Learning (MSEL; E. M. Mullen, 1995 ) as a cognitive test for children with autism spectrum disorders and other developmental disabilities, the instrument has not been independently validated for use in these populations. Convergent validity of the MSEL and the Differential Ability Scales (DAS; C. D. Elliott, 1990 , 2007 ) was examined in 53 children with autism spectrum disorder and 19 children with nonspectrum diagnoses. Results showed good convergent validity with respect to nonverbal IQ (NVIQ), verbal IQ (VIQ), and NVIQ-VIQ profiles. These findings provide preliminary support for the practice of using MSEL age-equivalents to generate NVIQ and VIQ scores. Establishing convergent validity of cognitive tests is needed before IQs derived from different tests can be conceptualized as a uniform construct.

Patterns of developmental trajectories in toddlers with autism spectrum disorder

OBJECTIVE Our objective was to follow toddlers referred for risk of autism, using standardized observational measures administered frequently from age 18 months to age 36 months. METHOD Sixty-five children who were consecutive referrals and 13 children from other research projects were seen approximately every 2 months, from age 18 months to age 36 months, for standardized assessments and clinical judgments by the same examiner and every 6 months by an examiner blind to previous scores. RESULTS Thirty children never received an autism spectrum disorder (ASD) diagnosis; 48 children (all referrals) received at least 1 diagnosis of ASD. The best trajectory typology, using Autism Diagnostic Observation Schedule (ADOS) scores, revealed 4 trajectory classes with high probabilities for fit to the most likely class: severe persistent (21%), worsening (21%), improving (19%), and nonspectrum (40%). Classes differed by trajectories in verbal and nonverbal mental ages; never-ever ASD groups differed on Autism Diagnostic Interview-Revised (ADI-R) domain scores and clinician judgments, but improving-worsening trajectory groups did not. CONCLUSIONS The results replicated the findings from studies of infants whose siblings have autism and infants whose siblings do not have autism, suggesting variability in early trajectories and supporting the need for early identification, regular monitoring, and standardized assessments of young children suspected of having ASD.

“Communities” in Community Engagement: Lessons Learned From Autism Research in South Korea and South Africa

Little research has been conducted on behavioral characteristics of children with autism spectrum disorder (ASD) from diverse cultures within the US, or from countries outside of the US or Europe, with little reliable information yet reported from developing countries. We describe the process used to engage diverse communities in ASD research in two community‐based research projects—an epidemiologic investigation of 7‐ to 12‐year olds in South Korea and the Early Autism Project, an ASD detection program for 18‐ to 36‐month‐old Zulu‐speaking children in South Africa. Despite the differences in wealth between these communities, ASD is underdiagnosed in both settings, and generally not reported in clinical or educational records. Moreover, in both countries, there is low availability of services. In both cases, local knowledge helped researchers to address both ethnographic as well as practical problems. Researchers identified the ways in which these communities generate and negotiate the cultural meanings of developmental disorders. Researchers incorporated that knowledge, as they engaged communities in a research protocol, adapted and translated screening and diagnostic tools, and developed methods for screening, evaluating, and diagnosing children with ASD. Autism Res 2012, 5: 201–210.

Comparison of DSM-IV and DSM-5 Factor Structure Models for Toddlers With Autism Spectrum Disorder

OBJECTIVE The present study examined the factor structure of autism symptoms in toddlers, to aid understanding of the phenotype during the developmental period that represents the earliest manifestations of autism symptoms. This endeavor is particularly timely, given changes in symptom structure from the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV) to the recently released Fifth Edition (DSM-5). METHOD Factor structure was examined in a sample of toddlers between 12 and 30 months of age (mean = 20.37 months, SD = 3.32 months) diagnosed with autism spectrum disorder (ASD) and recruited from community settings or referred for evaluation (N = 237). Confirmatory factor analyses were conducted comparing the relative fit of 4 distinct, previously proposed and validated models: DSM-5, DSM-IV, 1-factor, and an alternative 3-factor model proposed by van Lang et al. RESULTS Findings revealed that the 1-factor model provided the poorest fit, followed by the DSM-IV model and the van Lang et al. model. The DSM-5 model provided the best fit to the data relative to other models and good absolute fit. Indicators for the confirmatory factor analyses, drawn from the Autism Diagnostic Observation Schedule-Toddler Module (ADOS-T), loaded strongly onto the DSM-5 Social Communication and Social Interaction factor and more variably onto the DSM-5 Restricted/Repetitive Language and Behavior factor. CONCLUSIONS Results indicate that autism symptoms in toddlers, as measured by the ADOS-T, are separable and best deconstructed into the 2-factor DSM-5 structure, supporting the reorganization of symptoms in the DSM-5. Consistency of the present results in toddlers with previous studies in older children and adults suggests that the structure of autism symptoms may be similar throughout development.

Communities in Community Engagement

Little research has been conducted on behavioral characteristics of children with autism spectrum disorder (ASD) from diverse cultures within the US, or from countries outside of the US or Europe, with little reliable information yet reported from developing countries. We describe the process used to engage diverse communities in ASD research in two community‐based research projects—an epidemiologic investigation of 7‐ to 12‐year olds in South Korea and the Early Autism Project, an ASD detection program for 18‐ to 36‐month‐old Zulu‐speaking children in South Africa. Despite the differences in wealth between these communities, ASD is underdiagnosed in both settings, and generally not reported in clinical or educational records. Moreover, in both countries, there is low availability of services. In both cases, local knowledge helped researchers to address both ethnographic as well as practical problems. Researchers identified the ways in which these communities generate and negotiate the cultural meanings of developmental disorders. Researchers incorporated that knowledge, as they engaged communities in a research protocol, adapted and translated screening and diagnostic tools, and developed methods for screening, evaluating, and diagnosing children with ASD. Autism Res 2012, 5: 201–210.

Distress Tolerance and Pathological Worry: Tests of Incremental and Prospective Relationships

Pathological worry and generalized anxiety disorder (GAD) have been linked with low distress tolerance (DT), although questions remain including whether this association exists independent of depression and comorbidity, the directionality of the relationship between worry and DT, and DTs nonredundancy with other worry-relevant variables (i.e., emotional reactivity, stressful life events). Further, it is unclear whether DT is merely a correlate of excessive worry or acts as a risk factor for its development. Two independent studies were completed to evaluate these questions. In Study 1, DT was examined in patients with GAD and healthy controls. In Study 2, a nonclinical sample completed baseline measures of DT, negative affect, and worry, as well as daily assessments of these constructs and stressors for 1month. In Study 1, lower DT was associated with GAD diagnosis and greater worry symptoms independent of extent of comorbidity and depressive symptoms. In Study 2, lower baseline DT predicted unique variance in daily worry and increases in worry over time, whereas baseline worry did not predict daily DT or decreases in DT 1month later. Findings suggest that low DT plays a role in excessive worry independent of relevant covariates (i.e., comorbidity, emotional reactivity, stressful life events) and that this relationship is unidirectional. Further, preliminary evidence indicates that low DT may be an overall risk factor for the development of worry, particularly during periods of romantic stress, although further research and replication is required.

Convergent and divergent validity of the Mullen Scales of Early Learning in young children with and without autism spectrum disorder.

The purpose of this study was to report on the construct, convergent, and divergent validity of the Mullen Scales of Early Learning (MSEL), a widely used test of development for young children. The sample consisted of 399 children with a mean age of 3.38 years (SD = 1.14) divided into a group of children with autism spectrum disorder (ASD) and a group of children not on the autism spectrum, with and without developmental delays. The study used the MSEL and several other measures assessing constructs relevant to the age range--including developmental skills, autism symptoms, and psychopathology symptoms--across multiple methods of assessment. Multiple-group confirmatory factor analyses revealed good overall fit and equal form of the MSEL 1-factor model across the ASD and nonspectrum groups, supporting the construct validity of the MSEL. However, neither full nor partial invariance of factor loadings was established because of the lower loadings in the ASD group compared with the nonspectrum group. Exploratory structural equation modeling revealed that other measures of developmental skills loaded together with the MSEL domain scores on a Developmental Functioning factor, supporting convergent validity of the MSEL. Divergent validity was supported by the lack of loading of MSEL domain scores on Autism Symptoms or Emotion/Behavior Problems factors. Although factor structure and loadings varied across groups, convergent and divergent validity findings were similar in the ASD and nonspectrum samples. Together, these results demonstrate evidence for the construct, convergent, and divergent validity of the MSEL using powerful data-analytic techniques.

Psychometric analysis of the Systematic Observation of Red Flags for autism spectrum disorder in toddlers

The purpose of this study was to examine the utility of the Systematic Observation of Red Flags as an observational level-two screening measure to detect risk for autism spectrum disorder in toddlers when used with a video-recorded administration of the Communication and Symbolic Behavior Scales. Psychometric properties of the Systematic Observation of Red Flags were examined in a sample of 247 toddlers of 16- to 24 months old: 130 with autism spectrum disorder, 61 with developmental delays, and 56 typically developing. Individual items were examined for performance to create an algorithm with improved sensitivity and specificity, yielding a total Composite score and Domain scores for Social Communication and Restricted Repetitive Behaviors. Codes indicating clear symptom presence were collapsed to yield a count of the number of Red Flags for the overall scale and each symptom domain. Results indicated significant group differences with large effects for the Composite, both Domain scores, and Red Flags score, and good discrimination (area under the curve = 0.84–0.87) between autism spectrum disorder and nonspectrum groups for the Composite, Social Communication Domain, and Social Communication Red Flags score. The Systematic Observation of Red Flags provides an observational screening measure for 16- to 24-month-olds with good discrimination, sensitivity, and specificity. A cutoff of 20 on the Composite is recommended to optimally detect autism spectrum disorder risk.

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohesin complex. Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria, both for classic CdLS and non-classic CdLS phenotypes, molecular investigations, long-term management and care planning.Cornelia de Lange syndrome is a genetic disorder affecting multiple organ systems that exhibits great phenotypic heterogeneity. This Consensus Statement summarizes recommendations for the diagnosis and management of patients with Cornelia de Lange syndrome.