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The present study investigated the performance of children with neurofibromatosis type 1 on computerized assessments of attention and executive function. Relations to ADHD symptomatology were also examined. Participants included 37 children (20 male) with NF1 (9–13 years; Mage = 11.02). Participants completed the NIH Toolbox Dimensional Change Card Sort, List Sort Working Memory (LSWM), and Flanker tasks, as well as Cogstate Identification and One Back tests. ADHD symptomatology was assessed using the K-SADS. Average performance was significantly different from the normative mean on every measure, except LSWM. The NIH Toolbox Flanker and Cogstate Identification tasks detected the highest proportion of participants with at least mild difficulty, and the Cogstate Identification task detected the highest proportion of participants with severe difficulty. Analyses revealed significant relations with ADHD symptomatology for two NIH toolbox tasks. The various computerized measures of attention and executive function offer different information when working with school age children with NF1. The NIH Flanker may offer the most room for change and offers face validity, which may be beneficial for clinical trials research. However, the LSWM shows most support for relations with behavioral indicators of attention and executive challenges. [ABSTRACT FROM AUTHOR]

Neurofibromatosis type 1 (NF1) is associated with neurocognitive deficits that can impact everyday functioning of children, adolescents, and adults with this disease. However, there is little agreement regarding measures to use as cognitive endpoints in clinical trials. This article describes the work of the Neurocognitive Committee of the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration. The goal of this committee is to identify standardized and specific cognitive assessment tools for use in NF clinical trials. The committee first identified cognitive domains relevant to NF1 and prioritized attention as the first domain of focus given prior and current trends in NF1 cognitive clinical trials. Performance measures and behavioral rating questionnaires of attention were reviewed by the group using established criteria to assess patient characteristics, psychometric properties, and feasibility. The highest rated tests underwent side-by-side comparison. The Digit Span subtest from the Wechsler scales was given the highest ratings of the performance measures due to its good psychometrics, feasibility, utility across a wide age range, and extensive use in previous research. The Conners scales achieved the highest ratings of the behavioral questionnaires for similar reasons. Future articles will focus on other cognitive domains, with the ultimate goal of achieving agreement for cognitive endpoints that can be used across NF clinical trials.

To characterize autism spectrum-related symptomatology in children with Williams syndrome (WS) with phrase speech or fluent language, the Autism Diagnostic Observation Schedule Module 2 or 3 was administered. The cutoff for autism spectrum was met by 35% (14/40) who completed Module 2 and 30% (18/60) who completed Module 3. Similarities and differences in socio-communicative strengths and weaknesses as a function of language ability were identified. Symptom severity was negatively associated with IQ for participants with phrase speech but not for those with fluent language. The findings suggest an elevated risk of ASD for individuals with WS relative to the general population and contribute to a more nuanced sense of the socio-communicative functioning of children with WS.

Gold-standard diagnostic assessments of autism spectrum disorder (ASD) symptomatology were conducted on 63 children (mean CA: 8.81 years) with 7q11.23 duplication syndrome, one of the copy number variants identified by Sanders et al. ("Neuron" 70:863-885, 2011a) as associated with ASD. ASD classification rate was 39.6% for the Autism Diagnostic Interview-Revised and 25.4% for the Autism Diagnostic Observation Schedule-2 (ADOS-2). Based on these assessments combined with clinical judgment, 19.0% of children were diagnosed with ASD. Reasons for these discrepancies are discussed, as are differences in rate of diagnosis as a function of sex, age, and ADOS-2 module administered and differences in intellectual and adaptive behavior abilities as a function of presence or absence of ASD diagnosis and ADOS-2 module administered. Implications are addressed.

To characterize autism spectrum-related symptomatology in children with Williams syndrome (WS) with phrase speech or fluent language, the Autism Diagnostic Observation Schedule Module 2 or 3 was administered. The cutoff for autism spectrum was met by 35% (14/40) who completed Module 2 and 30% (18/60) who completed Module 3. Similarities and differences in socio-communicative strengths and weaknesses as a function of language ability were identified. Symptom severity was negatively associated with IQ for participants with phrase speech but not for those with fluent language. The findings suggest an elevated risk of ASD for individuals with WS relative to the general population and contribute to a more nuanced sense of the socio-communicative functioning of children with WS., Author(s): Bonita P. Klein-Tasman [sup.1] , Faye van der Fluit [sup.2] , Carolyn B. Mervis [sup.3] Author Affiliations: (Aff1) 0000 0001 0695 7223, grid.267468.9, Department of Psychology, University of Wisconsin-Milwaukee, [...]

Gold-standard diagnostic assessments of autism spectrum disorder (ASD) symptomatology were conducted on 63 children (mean CA: 8.81 years) with 7q11.23 duplication syndrome, one of the copy number variants identified by Sanders et al. (Neuron 70:863-885, 2011a) as associated with ASD. ASD classification rate was 39.6% for the Autism Diagnostic Interview-Revised and 25.4% for the Autism Diagnostic Observation Schedule-2 (ADOS-2). Based on these assessments combined with clinical judgment, 19.0% of children were diagnosed with ASD. Reasons for these discrepancies are discussed, as are differences in rate of diagnosis as a function of sex, age, and ADOS-2 module administered and differences in intellectual and adaptive behavior abilities as a function of presence or absence of ASD diagnosis and ADOS-2 module administered. Implications are addressed., Author(s): Bonita P. Klein-Tasman [sup.1] , Carolyn B. Mervis [sup.2] Author Affiliations: (Aff1) 0000 0001 0695 7223, grid.267468.9, Department of Psychology, University of Wisconsin-Milwaukee, , PO Box 413, 53201, Milwaukee, [...]

Problem behavior of 52 children with Williams syndrome ages 6 to 17 years old was examined based on both parent and teacher report. Generally good inter-rater agreement was found. Common areas of problem behavior based both on parent and teacher report included attention problems, anxiety difficulties, repetitive behaviors (e.g., obsessions, compulsions, picking nose or skin), and social problems, reflecting a robust behavioral phenotype in Williams syndrome present across contexts. Some rater differences were observed; most notably, parents reported more attention and mood difficulties than did teachers, while teachers reported more oppositionality and aggression than did parents. Relations to intellectual functioning, age, and gender were examined. The implications of the findings for understanding the behavioral phenotype associated with Williams syndrome are discussed.

The behavioral phenotype of Williams syndrome (WS) is characterized by difficulties with establishment and maintenance of friendships despite high levels of interest in social interaction. Here, parents and teachers rated 84 children with WS ages 4-16 years using two commonly-used measures assessing aspects of social functioning: the Social Skills Rating System and the Social Responsiveness Scale. Mean prosocial functioning fell in the low average to average range, whereas social reciprocity was perceived to be an area of significant difficulty for many children. Concordance between parent and teacher ratings was high. Patterns of social functioning are discussed. Findings highlight the importance of parsing the construct of social skills to gain a nuanced understanding of the social phenotype in WS.

The Child Behavior Checklist (CBCL/6-18) is a widely used parent-report measure of youth internalizing and externalizing problems. Accumulating evidence, however, suggests that the CBCL may not adequately assess clinical problems in diverse populations. We investigated the measurement equivalence (ME) of the CBCL in an African American adolescent sample (N = 145). Confirmatory factor analysis indicated poor factor model fit; however, modification indices and an alternative two-factor model produced improved fit statistics. Internal consistency coefficients of CBCL scales ranged from [alpha] = 0.65 to 0.88 and were generally lower than those reported for the normative sample. The CBCL exhibited convergent validity with conceptually similar scales on the Parent Report Scale of the Behavior Assessment System for Children; however, the correlations were weaker than those reported for the normative sample. The CBCL Internalizing composite failed to predict clinician-rated Emotional problems, however, the Externalizing composite predicted clinician-rated behavior problems. In summary, the CBCL did not exhibit unequivocal evidence of ME, as it both possesses "and" lacks a number of statistical attributes that would demonstrate its equivalence with African Americans. Future empirical and theoretical work is discussed.

The study examined behavioral reactions to sound, including startle eye blinks, in young children with Williams syndrome (WS) using video-based observational techniques. Participants were 21 children with WS and 20 children with other developmental disabilities of mixed etiology between the ages of 2.5 and 6. Groups were matched for chronological age and developmental level. All children participated in a semi-structured play interaction including exposure to mild intensity sounds as emitted from conventional toys. Overall, 90% of the children in the WS group were observed to exhibit overt behavioral reactivity to mild intensity sounds, compared to only 20% in the mixed etiology group. Examination of the temporal sequence indicated that children with WS generally exhibited these behaviors before exposure to sound stimuli, suggesting a relation to anticipatory anxiety. Children with WS also exhibited significantly greater acoustic startle eye blinks, often viewed as an indication of heightened emotional state. Taken together, the current findings confirm the presence of heightened reactivity to sound in WS, behaviors previously investigated using parent report alone. The observed behaviors and their potential relation to anxiety are also discussed. (Contains 3 figures and 5 tables.)

The ADOS characterizes socio-communicative deficits in autism spectrum disorders (ASD). In this study the effect of module choice on ADOS classification was examined. For 74 participants (52 autism, 22 PDD-NOS), Module 1 and Module 2 were administered in a single session. Fifty-one participants maintained ADOS classification, with 17 more impaired on M2 and 6 more impaired on M1. For 64 participants (25 autism, 39 PDD-NOS), Module 2 and Module 3 were administered. Thirty-nine participants maintained classification, with 24 more impaired on M3 and 1 more impaired on M2. As expected, more impairment was indicated when a module with more language and task demands was administered. Clinical judgment of the most appropriate module for administration was found to be important.