Longitudinal Follow-Up Study of Social Intervention Outcomes for Children on the Autism Spectrum.

A prior randomized trial found a school social intervention yielded significantly better outcomes (social and autism features) immediately following intervention compared to typical school programming (services-as-usual [SAU]) for children on the autism spectrum. In that study, children in the SAU condition subsequently completed a summer social intervention. This study tested longer-term maintenance of effects for children who completed both interventions. A total of 103 children (ages 6-12 years) on the autism spectrum enrolled and 102 completed the initial RCT. Following the summer social intervention, 90 children from the original RCT completed the longer-term follow-up study. In addition to baseline and posttest in the initial RCT, children from both groups were tested at three follow-up points (five total testing points). At the time of first longitudinal follow-up testing, the children were 1.25-4.25 years post-intervention (ages 8-15 years). Longitudinal multilevel model analyses (and follow-up contrasts) revealed significant improvements for both groups post-intervention on measures of emotion recognition, autism features, and social skills, indicating maintenance of post-intervention improvements over the three follow-up testing points. No between-group differences were found for autism features or social skills over time; however, the school social intervention may have yielded somewhat better emotion recognition skills. Exploratory tests found that child IQ, language level, and length of time since completing the intervention did not moderate outcomes. Both social interventions yielded positive and durable longer-term improvements for children on the autism spectrum. [ClinicalTrials.gov, NCT03338530; November 8, 2017; original retrospectively registered trial].

Telomere biology disorder presenting acutely with pulmonary fibrosis and hepatopulmonary syndrome in a young adult male.

A 33-year-old man presented with acute dyspnoea and profound hypoxaemia, and had clubbing, greying of hair, orthodeoxia and fine inspiratory crackles. CT chest showed established pulmonary fibrosis in a usual interstitial pneumonia pattern. Additional investigations revealed a small patent foramen ovale, pancytopenia, and oesophageal varices and portal hypertensive gastropathy from liver cirrhosis. Telomere length testing demonstrated short telomeres (<1st percentile), confirming the diagnosis of a telomere biology disorder. An interstitial lung disease gene panel identified a pathogenic variant in TERT (c.1700C>T, p.(Thr567Met)) and a variant of uncertain significance in PARN (c.1159G>A, p.(Gly387Arg)). Combined lung and liver transplantation was deemed not suitable due to frailty and severe hepatopulmonary syndrome, and he died 56 days after presentation. Early recognition of the short telomere syndrome is important, and its multi-organ involvement poses challenges to management. Genetic screening may be important in younger patients with pulmonary fibrosis or in unexplained liver cirrhosis.

ASD Symptoms, Social Skills, and Comorbidity: Predictors of Bullying Perpetration.

Children with ASD are more likely to be involved in bullying compared to typically developing peers; however, studies rarely examine bullying perpetration and the contributing factors among this population. The primary aim of this study was to examine the extent to which parent-reported ASD symptoms, social skills, and comorbid externalizing and internalizing symptoms predicted bullying perpetration in a sample of 390 children with ASD without intellectual disability. Findings from hierarchical regression analyses indicated that social skill deficits, externalizing symptoms (i.e., hyperactivity, aggression, and conduct problems), and depressive symptoms were associated with higher likelihood of bullying perpetration, while severity of ASD symptoms and anxiety were not significant predictors. Further research is needed to better understand bullying perpetration among children with ASD.

Delineating the CCDC22-related Ritscher-Schinzel syndrome phenotype in the original family.

Pathogenic variants in CCDC22 were initially described in 2012 in a large Australian family with intellectual disability and were subsequently noted to cause a phenotype consistent with the previously described Ritscher-Schinzel syndrome (RSS). The phenotypes of the original family were not described in detail and remains limited phenotypic data reported in medical literature. We detail the phenotypes of the original family, including newly diagnosed family members. With these eight phenotypic descriptions, more than triple the number of individuals for whom detailed clinical information is available. In addition to typical facies, common phenotypic features included intellectual disability, congenital heart disease and posterior fossa malformations, postnatal short stature, ectodermal abnormalities, and digital anomalies as previously described. Spinal curvature and genital anomalies were seen in most patients, while gastrointestinal features and disturbed sleep were also recurrently seen. We propose a possible mechanism linking the familial variant to a diagnosis of sarcoidosis in one individual. Given the clinical and genetic heterogeneity of RSS, we suggest a dyadic naming convention.

A Multi-Disciplinary Team Approach to Genomic Testing for Drug-Resistant Epilepsy Patients-The GENIE Study.

BACKGROUND: The genomic era has led to enormous progress in clinical care and a multi-disciplinary team (MDT) approach is imperative for integration of genomics into epilepsy patient care. METHODS: The MDT approach involved patient selection, genomic testing choice, variant discussions and return of results. Genomics analysis included cytogenomic testing and whole exome sequencing (WES). Neurologist surveys were undertaken at baseline and after genomic testing to determine if genomic diagnoses would alter their management, and if there was a change in confidence in genomic testing and neurologist perceptions of the MDT approach. RESULTS: The total diagnostic yield from all genomic testing was 17% (11/66), with four diagnoses from cytogenomic analyses. All chromosomal microarray (CMA) diagnoses were in patients seen by adult neurologists. Diagnostic yield for WES was 11% (7/62). The most common gene with pathogenic variants was DCX, reported in three patients, of which two were mosaic. The genomic diagnosis impacted management in 82% (9/11). There was increased confidence with integrating genomics into clinical care (Pearson chi square = 83, p = 0.004) and qualitative comments were highly supportive of the MDT approach. CONCLUSIONS: We demonstrated diagnostic yield from genomic testing, and the impact on management in a cohort with drug-resistant epilepsy. The MDT approach increased confidence in genomic testing and neurologists valued the input from this approach. The utility of CMA was demonstrated in epilepsy patients seen by adult neurologists as was the importance of considering mosaicism for previously undiagnosed patients.

Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant.

Heterozygous single nucleotide variants (SNVs) or copy-number variant deletions involving FOXF1 or its distant lung-specific enhancer on chromosome 16q24.1 have been identified in 80-90% of patients with Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV), a lethal neonatal lung developmental disorder. We describe a four-generation family with a deceased ACDMPV neonate, her sibling from the electively terminated pregnancy, healthy mother with a history of pulmonary arterial hypertension (PAH), an unaffected aunt, an aunt deceased due to findings consistent with ACDMPV, and a reportedly unaffected grandmother, all with the frameshifting variant c.881_902dup (p.Gly302Profs*46) in FOXF1, and a deceased great-grandmother with a history of PAH. Genome sequencing analyses in the proband's unaffected mother revealed a non-coding putative regulatory SNV rs560517434-A within the lung-specific distant FOXF1 enhancer in trans to the FOXF1 frameshift mutation. Functional testing of this variant using an in vitro luciferase reporter assay showed that it increased FOXF1 promoter activity 10-fold. Our studies further demonstrate that non-coding SNVs in the FOXF1 enhancer region can rescue the lethal ACDMPV phenotype and support the compound inheritance gene dosage model.

Functional interaction between compound heterozygous TERT mutations causes severe telomere biology disorder.

Telomere biology disorders (TBDs) are a spectrum of multisystem inherited disorders characterized by bone marrow failure, resulting from mutations in the genes encoding telomerase or other proteins involved in maintaining telomere length and integrity. Pathogenicity of variants in these genes can be hard to evaluate, because TBD mutations show highly variable penetrance and genetic anticipation related to inheritance of shorter telomeres with each generation. Thus, detailed functional analysis of newly identified variants is often essential. Herein, we describe a patient with compound heterozygous variants in the TERT gene, which encodes the catalytic subunit of telomerase, hTERT. This patient had the extremely severe Hoyeraal-Hreidarsson form of TBD, although his heterozygous parents were clinically unaffected. Molecular dynamic modeling and detailed biochemical analyses demonstrate that one allele (L557P) affects association of hTERT with its cognate RNA component hTR, whereas the other (K1050E) affects the binding of telomerase to its DNA substrate and enzyme processivity. Unexpectedly, the data demonstrate a functional interaction between the proteins encoded by the two alleles, with wild-type hTERT rescuing the effect of K1050E on processivity, whereas L557P hTERT does not. These data contribute to the mechanistic understanding of telomerase, indicating that RNA binding in one hTERT molecule affects the processivity of telomere addition by the other molecule. This work emphasizes the importance of functional characterization of TERT variants to reach a definitive molecular diagnosis for patients with TBD, and, in particular, it illustrates the importance of analyzing the effects of compound heterozygous variants in combination, to reveal interallelic effects.

Effect of COVID-19 Stay-at-Home Restrictions on Parent Reported Symptom Severity and Adaptive Functioning of Youth with ASD.

This study assessed the potential short-term effects of COVID-19 stay-at-home restrictions on ratings of ASD and comorbid symptoms severity and adaptive functioning of 69 youth, ages 8-16 years with ASD without intellectual disability. Parent/caregiver ratings were being collected in fall and spring over approximately two years when the restrictions were imposed four months prior to the final data collection point. Results indicated no significant changes in parent/caregiver ratings of ASD symptom severity, comorbid symptoms severity, social skills, or adaptive behaviors following the stay-at-home restrictions and little variability across the four data collection points. Although findings suggested minimal short-term effects on these symptoms and adaptive skills, ongoing monitoring is needed to assess longer-term impacts.

A novel ARX loss of function variant in female monozygotic twins is associated with chorea.

Pathogenic variants in ARX lead to a variety of phenotypes with intellectual disability being a uniform feature. Other features can include severe epilepsy, spasticity, movement disorders, agenesis of the corpus callosum, lissencephaly, hydranencephaly and ambiguous genitalia in males. We present the first report of monozygotic female twins with a de novo ARX pathogenic variant (c.1406_1415del; p. Ala469Aspfs*20), predicted to result in a truncated ARX protein missing the important regulatory Aristaless domain. The twins presented with profound developmental delay and seizures, consistent with the known genotype-phenotype correlation. Twin 2's features were significantly more severe. She also developed chorea; the first time this movement disorder has been seen in an ARX variant other than an expansion of the first polyalanine tract. Differential X-chromosome inactivation was the most likely explanation for the differing severities but could not be conclusively proven.

Autism Characteristics and Self-Reported Health in Older Adulthood.

OBJECTIVES: The present research used a continuous measurement approach to extend the evidence that autism is associated with significant struggles in physical health as well as mental health and psychological well-being. METHODS: The relationship of autism characteristics to physical health and psychological well-being was examined in 294 individuals (M age = 70.51, SD age = 8.17, age range = 53-96). The sample is 57.4% female (n = 166) and primarily White (n = 270, 96.8%). The majority of the participants did not identify as having an autism diagnosis (n = 284, 96.6%). Participants completed the Autism-Spectrum Quotient Scale alongside self-report measures of physical health, mental health, and psychological well-being. RESULTS: Autism characteristics correlated strongly with challenges in social engagement due to poor health (r = 0.46), depression (r = 0.39) and anxiety (r = 0.47), limitations due to poor mental health (r = 0.41), satisfaction with life (r = -0.47), and psychological well-being (r = -0.62). DISCUSSION: These findings help shed light on the challenges experienced by individuals aging with elevated autism characteristics. The limitations of this study and prior work on this topic help identify important avenues for future research in this area.

The Relationship of Age with the Autism-Spectrum Quotient Scale in a Large Sample of Adults.

Background: The historical focus on autism as a childhood disorder means that evidence regarding autism in adulthood lags significantly behind research in other age groups. Emerging studies on the relationship of age with autism characteristics do not target older adult samples, which presents a barrier to studying the important variability that exists in life span developmental research. This study aims to further our understanding of the relationship between the Autism-Spectrum Quotient Scale and age in a large adult sample. Methods: The present study examines the relationship of Autism-Spectrum Quotient Scale (AQ) scores with age in 1139 adults, ages 18-97 years. Participants came from three distinct samples-a sample of primarily students, a sample of MTurk participants, and a sample of primarily community dwelling older adults. The majority of the participants did not self-report an autism diagnosis (91%), were female (67%), and identified as White (81%). Participants completed the AQ primarily via online surveys. Researchers scored the AQ following six common scoring practices. Results: Results of preregistered analyses indicate that autism characteristics measured by the AQ are not strongly associated with age (r values from -0.01 to -0.11). Further findings indicate that the measurement of autism characteristics is consistent across age into late life using both multiple groups and local structural equation modeling approaches to measurement invariance (comparative fit indices = 0.82-0.83, root mean square error = 0.06) as well as reliability analysis. Finally, demographic and autism-related variables (sex, race, self-identified autism spectrum disorder diagnosis, and degree of autism characteristics) did not moderate the relationship between age and autism characteristics. Conclusion: These results suggest that self-reports of autism characteristics using the AQ do not vary strongly by age in this large age-representative sample. Findings suggest that the AQ can potentially serve as a useful tool for future research on autism across the life span. Important limitations on what we can learn from these findings point toward critical avenues for future research in this area. LAY SUMMARY: Why was this study done?: Self-report questionnaires of autism characteristics are a potentially important resource for studying autism in adulthood. This study sought to provide additional information about one of the most commonly used self-report questionnaires, the Autism-Spectrum Quotient Scale (AQ), across adulthood.What was the purpose of this study?: This study intended to determine if there is a relationship between scores on the AQ and age. Researchers also worked to identify which of the multiple different ways of scoring the AQ worked best across adulthood.What did the researchers do?: Researchers collected data from over a thousand participants aged 18-97 years. Participants from three different age groups completed online surveys to self-report their levels of autism characteristics on the AQ. Researchers tested the relationship between AQ scores and age with six different commonly used ways to calculate AQ scores. Researchers used multiple statistical techniques to evaluate various measurement properties of the AQ.What were the results of the study?: The results indicate that autism characteristics measured by the AQ are not strongly associated with age. Along with that, there is evidence that certain approaches to measuring of autism characteristics are consistent across age into late life and do not vary with demographic and autism-related factors.What do these findings add to what was already known?: These results add to the growing evidence that self-reports of autism characteristics using the AQ in general samples are not strongly associated with age across adulthood. These findings also provide guidance about ways of scoring the AQ that work well through late life.What are potential weaknesses in the study?: While the AQ has a degree of relationship with autism diagnoses, this is far from perfect and has not been evaluated in the context of aging research. Therefore, findings from the present research must be carefully interpreted to be about autism characteristics not diagnoses. The sample was also limited in a number of other ways. As in any studies including a broad age range of individuals, the oldest participants are likely quite healthy, engaged individuals. This may particularly be the case given the higher mortality rates and health challenges seen with autism. Similarly, as with any self-report research, this research is limited to those individuals who could answer questions about their autism characteristics. The sample was also predominantly White and nonautistic. Finally, the research was limited to one point in time and so cannot tell us about how autism characteristics may change across adulthood.How will these findings help autistic adults now or in the future?: These findings support the potential for the AQ to be a useful tool for future research on autism in adulthood. For example, researchers can use measures such as the AQ to study how autism characteristics change over time or are associated with aging-related issues such as changes in physical health and memory. Such research may be able to provide a better understanding of how to support autistic individuals across adulthood.

Psychometric properties of the Cambridge-Mindreading Face-Voice Battery for Children in children with ASD.

This study examined the psychometric characteristics of the Cambridge-Mindreading Face-Voice Battery for Children (CAM-C) for a sample of 333 children, ages 6-12 years with ASD (with no intellectual disability). Internal consistency was very good for the Total score (0.81 for both Faces and Voices) and respectable for the Complex emotions score (0.72 for Faces and 0.74 for Voices); however, internal consistency was lower for Simple emotions (0.65 for Faces and 0.61 for Voices). Test-retest reliability at 18 and 36 weeks was very good for the faces and voices total (0.76-0.81) and good for simple and complex faces and voices (0.53-0.75). Significant correlations were found between CAM-C Faces and scores on another measure of face-emotion recognition (Diagnostic Analysis of Nonverbal Accuracy-Second Edition), and between Faces and Voices scores and child age, IQ (except perceptual IQ and Simple Voice emotions), and language ability. Parent-reported ASD symptom severity and the Emotion Recognition scale on the SRS-2 were not related to CAM-C scores. Suggestions for future studies and further development of the CAM-C are provided. LAY SUMMARY: Facial and vocal emotion recognition are important for social interaction and have been identified as a challenge for individuals with autism spectrum disorder. Emotion recognition is an area frequently targeted by interventions. This study evaluated a measure of emotion recognition (the CAM-C) for its consistency and validity in a large sample of children with autism. The study found the CAM-C showed many strengths needed to accurately measure the change in emotion recognition during intervention.

Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.

PURPOSE: The variant spectrum and the phenotype of X-linked Kabuki syndrome type 2 (KS2) are poorly understood. METHODS: Genetic and clinical details of new and published individuals with pathogenic KDM6A variants were compiled and analyzed. RESULTS: Sixty-one distinct pathogenic KDM6A variants (50 truncating, 11 missense) from 80 patients (34 males, 46 females) were identified. Missense variants clustered in the TRP 2, 3, 7 and Jmj-C domains. Truncating variants were significantly more likely to be de novo. Thirteen individuals had maternally inherited variants and one had a paternally inherited variant. Neonatal feeding difficulties, hypoglycemia, postnatal growth retardation, poor weight gain, motor delay, intellectual disability (ID), microcephaly, congenital heart anomalies, palate defects, renal malformations, strabismus, hearing loss, recurrent infections, hyperinsulinism, seizures, joint hypermobility, and gastroesophageal reflux were frequent clinical findings. Facial features of over a third of patients were not typical for KS. Males were significantly more likely to be born prematurely, have shorter stature, and severe developmental delay/ID. CONCLUSION: We expand the KDM6A variant spectrum and delineate the KS2 phenotype. We demonstrate that the variability of the KS2 phenotypic depends on sex and the variant type. We also highlight the overlaps and differences between the phenotypes of KS2 and KS1.

Feasibility and Associated Physical Performance Outcomes of a High-Intensity Exercise Program for Children With Autism.

Purpose: Children with autism spectrum disorder (ASD) without intellectual disability (ID) exhibit social and motor impairments and circumscribed interests/behaviors that contribute to lower physical activity (PA) levels. Despite the need for exercise interventions for these children, there is a dearth of evidence-based treatments. This study tested the feasibility of a high-intensity exercise program for children with ASD without ID, and associated changes in physical performance. Method: Fifty-eight children, ages 7-12 with ASD without ID participated. The intervention (5 weeks, 19 sessions, 60 mins ea.) was conducted during the summer. Each session was manualized (operationalized instructional procedure and curriculum) and targeted components of fitness and motor performance using skill development exercises, workouts, and game-related activities. Feasibility was assessed via fidelity (implementation accuracy), satisfaction surveys, attrition, and injuries. Physical performance was tested at baseline and posttest using measures of work production (completed rounds of an exercise circuit) and within-session activity levels (time in moderate-to-vigorous PA), and six exercise tests (sit and reach, push-ups, sit-ups, air squats, long jump, and PACER). Results: Results indicated high levels of fidelity (93.7%) and child and staff satisfaction, and no attrition or injuries, supporting the feasibility, tolerability, and safety of the protocol. Significant increases were found in work production and activity levels (ds 0.83 and 1.05, respectively) and on three exercise tests (sit ups, air squats, and long jump; ds 0.29-0.37). Conclusion: The exercise program was feasible and safe, and completion was associated with significant improvements in multiple areas of performance; a randomized controlled trial appears warranted.

RCT of a Comprehensive Outpatient Treatment for Children with Autism Spectrum Disorder.

Objective: This study tested the efficacy of an intensive outpatient psychosocial treatment for children with autism spectrum disorder (ASD) without intellectual disability (ID).Method: Eighty-eight children (ages 7-12 years) were randomly assigned to the treatment or control (waitlist) condition. The 18-week cognitive-behavioral treatment (two 90-min sessions per week) included small-group instruction and therapeutic activities targeting social/social-communication skills, face-emotion recognition, nonliteral language skills, and interest expansion. A behavioral system was used to increase skills development and reduce ASD symptoms. Efficacy was tested immediately following treatment (posttest), with maintenance assessed 4-6 weeks later (follow-up). Measures included parent ratings of the children's social/social-communication skills, ASD symptoms, broad social skills, and behavior symptoms, child tests of social-cognitive skills (emotion recognition and nonliteral language), and behavioral observations.Results:Significant effects favoring the treatment group were found at posttest on the primary measures of ASD symptoms (Social Responsiveness Scale, Second Edition; Constantino & Gruber, 2012) and social/social-communication skills (Adapted Skillstreaming Checklist; Lopata, Thomeer, Volker, Nida & Lee, 2008), and secondary measures of nonliteral language skills, broad social skills, and behavior symptoms (measures of emotion-recognition skills and social behaviors during structured game sessions were non-significant). The significant treatment effects found at posttest were all maintained at follow-up.Conclusions: The outpatient treatment improved several core areas of functioning for children with ASD without ID. Additional elements may be needed to expand the efficacy of the treatment so that the observed skills/symptom improvements generalize to social interactions during gameplay.

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.

Importance: Widespread adoption of rapid genomic testing in pediatric critical care requires robust clinical and laboratory pathways that provide equitable and consistent service across health care systems. Objective: To prospectively evaluate the performance of a multicenter network for ultra-rapid genomic diagnosis in a public health care system. Design, Setting, and Participants: Descriptive feasibility study of critically ill pediatric patients with suspected monogenic conditions treated at 12 Australian hospitals between March 2018 and February 2019, with data collected to May 2019. A formal implementation strategy emphasizing communication and feedback, standardized processes, coordination, distributed leadership, and collective learning was used to facilitate adoption. Exposures: Ultra-rapid exome sequencing. Main Outcomes and Measures: The primary outcome was time from sample receipt to ultra-rapid exome sequencing report. The secondary outcomes were the molecular diagnostic yield, the change in clinical management after the ultra-rapid exome sequencing report, the time from hospital admission to the laboratory report, and the proportion of laboratory reports returned prior to death or hospital discharge. Results: The study population included 108 patients with a median age of 28 days (range, 0 days to 17 years); 34% were female; and 57% were from neonatal intensive care units, 33% were from pediatric intensive care units, and 9% were from other hospital wards. The mean time from sample receipt to ultra-rapid exome sequencing report was 3.3 days (95% CI, 3.2-3.5 days) and the median time was 3 days (range, 2-7 days). The mean time from hospital admission to ultra-rapid exome sequencing report was 17.5 days (95% CI, 14.6-21.1 days) and 93 reports (86%) were issued prior to death or hospital discharge. A molecular diagnosis was established in 55 patients (51%). Eleven diagnoses (20%) resulted from using the following approaches to augment standard exome sequencing analysis: mitochondrial genome sequencing analysis, exome sequencing-based copy number analysis, use of international databases to identify novel gene-disease associations, and additional phenotyping and RNA analysis. In 42 of 55 patients (76%) with a molecular diagnosis and 6 of 53 patients (11%) without a molecular diagnosis, the ultra-rapid exome sequencing result was considered as having influenced clinical management. Targeted treatments were initiated in 12 patients (11%), treatment was redirected toward palliative care in 14 patients (13%), and surveillance for specific complications was initiated in 19 patients (18%). Conclusions and Relevance: This study suggests feasibility of ultra-rapid genomic testing in critically ill pediatric patients with suspected monogenic conditions in the Australian public health care system. However, further research is needed to understand the clinical value of such testing, and the generalizability of the findings to other health care settings.

Moderators of School Intervention Outcomes for Children with Autism Spectrum Disorder.

A prior cluster randomized controlled trial (RCT) compared outcomes for a comprehensive school intervention (schoolMAX) to typical educational programming (services-as-usual [SAU]) for 103 children with autism spectrum disorder (ASD) without intellectual disability. The schoolMAX intervention was superior to SAU in improving social-cognitive understanding (emotion-recognition), social/social-communication skills, and ASD-related impairment (symptoms). In the current study, a range of demographic, clinical, and school variables were tested as potential moderators of treatment outcomes from the prior RCT. Moderation effects were not evident in demographics, child IQ, language, or ASD diagnostic symptoms, or school SES. Baseline externalizing symptoms moderated the outcome of social-cognitive understanding and adaptive skills moderated the outcome of ASD-related symptoms (no other comorbid symptoms or adaptive skills ratings moderated outcomes on the three measures). Overall, findings suggest that the main effects of treatment were, with two exceptions, unaffected by third variables.

Exploratory factor analysis of the Adapted Skillstreaming Checklist for children with autism spectrum disorder.

The Adapted Skillstreaming Checklist measures social/social-communication skills and behavioral flexibility/regulation of children with autism spectrum disorder without intellectual disability. Prior studies provided support for the reliability and criterion-related validity of the Adapted Skillstreaming Checklist total score for these children; however, no studies have examined the Adapted Skillstreaming Checklist factor structure. This exploratory factor analysis examined the factor structure and internal consistency of parent ratings on the Adapted Skillstreaming Checklist for a sample of 331 children, ages 6-12 years, with autism spectrum disorder without intellectual disability. Results yielded a correlated three-factor solution. The individual factors and total score demonstrated very good internal consistency reliability. Findings supported the presence and interpretability of three subscales, as well as derivation of a total composite reflecting overall prosocial and adaptive skills and behaviors. Implications for assessment and research are discussed.

Sex Differences in Externalizing and Internalizing Symptoms of Children with ASD.

This study examined sex differences in externalizing and internalizing symptoms of children with ASD without intellectual disability (ID). The sample (n = 80) included 40 girls and 40 boys, ages 6-12 years, with ASD (without ID) matched on age and IQ. Externalizing and internalizing symptoms were significantly elevated for this sample (girls and boys) relative to normative estimates for all the scales (hyperactivity, aggression, anxiety, and depression) except conduct problems. No significant differences were found between girls and boys for either externalizing symptoms or internalizing symptoms (based on standard score and raw score analyses). Implications for clinical practice and future research are discussed.

Depression, Anxiety, and Hyperactivity in Youth with HFASD: A Replication and Extension of Symptom Level Differences in Self-Report Versus Parent Report.

The present study compared parent ratings to self-report ratings of depression, anxiety, hyperactivity, attention problems, and atypical behaviors in youth with high-functioning autism spectrum disorder (HFASD) and typically developing (TD) controls. Measures included parent and self-report forms from the Behavioral Assessment System for Children-Second Edition (BASC-2), and self-report forms from the Children's Depression Inventory (CDI) and the Multidimensional Anxiety Scale for Children (MASC). Results across all five BASC-2 scales indicated parent ratings for the HFASD condition were significantly higher than HFASD self-ratings, and were significantly higher than parent and self-ratings from the TD condition. In addition, average self-report scores did not differ significantly between HFASD and TD conditions on any of the BASC-2 scales, the CDI, or the MASC.