The network structure of the Special Interests Survey.

Despite the prevalence of special interests (SIs) in autistic youth, research on SIs and how they are characterized is limited. Indeed, a significant challenge in identifying and classifying SIs lies in capturing the vast and diverse scope of potential interests in this population. The recently developed Special Interest Survey (SIS) is a caregiver-report measure to improve SI characterization by capturing a broad range of past and current SIs. In the present study, we performed a network analysis of the SIS to examine relations between SIs and identify distinct interest clusters. We analyzed data from 1992 caregivers of autistic youths who completed the SIS. The network of SIs was densely interconnected, characterized by six communities of interests: Fact-seeking, Engineering, Order-seeking, Object Attachment, Entertainment, and Scholarly Pursuits. Findings suggest that the structure of the observed network is likely to generalize to similar samples. Of all the SIs and their respective communities, behaviors related to Fact-seeking were identified as the most central, meaning that endorsement of these interests was most strongly related to co-endorsement of other SIs. These findings lay the groundwork for future work on SIs, such as improved assessment techniques and linkage of SIs to a broad range of demographic variables, youth characteristics, and autism symptoms.

An Evaluation of Parent and Teacher Discrepancies on an Adaptive Behavior Measure for Youth with Autism Spectrum Disorder, Intellectual Disability, and Global Developmental Delay.

Comprehensive evaluations include data from multiple informants, but discrepancies occur on adaptive skill measures of youth with autism spectrum disorder (ASD) and intellectual disabilities (ID). This study investigated discrepancies between parent-teacher ratings on a measure of adaptive behavior [Adaptive Behavior Assessment System, Third Edition (ABAS-3)] in a clinical sample of 115 youth. Agreement between informants was determined and then discrepancies were identified using paired-sample t-tests for the whole sample and subsamples. Factors associated with parent-teacher discrepancies were investigated including age, diagnoses, IQ, autism symptomology, and parent education. Parent-teacher scores were moderately correlated for the ABAS-3 composite and domains. Teachers rated youth with ASD and ID as having higher adaptive skills. Autism symptomology significantly predicted discrepancies between informants on the ABAS-3.

Corrigendum: Bias in measurement of autism symptoms by spoken language level and non-verbal mental age in minimally verbal children with neurodevelopmental disorders.

[This corrects the article DOI: 10.3389/fpsyg.2022.927847.].

Bias in measurement of autism symptoms by spoken language level and non-verbal mental age in minimally verbal children with neurodevelopmental disorders.

Increasing numbers of children with known genetic conditions and/or intellectual disability are referred for evaluation of autism spectrum disorder (ASD), highlighting the need to refine autism symptom measures to facilitate differential diagnoses in children with cognitive and language impairments. Previous studies have reported decreased specificity of ASD screening and diagnostic measures in children with intellectual disability. However, little is known about how cognitive and language abilities impact the measurement of specific ASD symptoms in this group. We aggregated a large sample of young children (N = 1196; aged 31-119 months) to examine measurement invariance of ASD symptoms among minimally verbal children within the context of the Autism Diagnostic Observation Schedule (ADOS) Module 1. Using confirmatory factor analysis (CFA) and moderated non-linear factor analysis (MNLFA), we examined how discrete behaviors were differentially associated with the latent symptom domains of social communication impairments (SCI) and restricted and repetitive behaviors (RRB) across spoken language levels and non-verbal mental age groupings. While the two-factor structure of SCI and RRB held consistently across language and cognitive levels, only partial invariance was observed for both ASD symptom domains of SCI and RRB. Specifically, four out of the 15 SCI items and one out of the three RRB items examined showed differential item functioning between children with "Few to No Words" and those with "Some Words"; and one SCI item and one RRB item showed differential item functioning across non-verbal mental age groups. Moreover, even after adjusting for the differential item functioning to reduce measurement bias across groups, there were still differences in ASD symptom domain scores across spoken language levels. These findings further underscore the influence of spoken language level on measurement of ASD symptoms and the importance of measuring ASD symptoms within refined spoken language levels, even among those with minimal verbal abilities.

Brief report: The impact of the broad autism phenotype on parent perception of autism symptoms in their children with and without autism spectrum disorder compared to teachers.

BACKGROUND: Evaluation of children with autism spectrum disorder (ASD) includes caregiver-reported rating scales of symptom presentation. The extent to which a broad autism phenotype (BAP) in parents of children with ASD might impact their endorsement of autism symptoms in their children with and without ASD has not been well evaluated. AIMS: This study analyzed whether varying degrees of parental BAP were associated with reported autism symptoms in offspring with and without ASD. METHODS AND PROCEDURES: We used the Broad Autism Phenotype Questionnaire as a measure of BAP in parents and parent- and teacher-report on the Social Responsiveness Scale (SRS) to assess autism symptoms in children with ASD and their typically developing (TD) siblings (N = 5714). We assessed the relationship between parental BAP and parent-teacher discordance. We compared teacher reports of autism symptoms in children with varying degrees of BAP exposure. OUTCOMES AND RESULTS: Mothers with higher levels of BAP over-reported autism symptoms in their children (compared to teachers) than mothers with lower BAP. TD children from parents with greater BAP displayed more autism symptoms than children from households with less BAP. CONCLUSIONS AND IMPLICATIONS: BAP is associated with parent report of autism symptoms when compared to teacher report. For children with ASD, it is possible that differences in ratings reflect parent perception and not autism symptomatology; whereas, TD children from households with higher levels of BAP exposure showed more phenotypic autism symptom presentation on teacher-completed measures. Researchers and clinicians should consider BAP when interpreting caregiver and teacher reports.

Characterization of Special Interests in Autism Spectrum Disorder: A Brief Review and Pilot Study Using the Special Interests Survey.

Special interests (SIs) are part of the diagnostic criteria for autism spectrum disorder (ASD). Though they can have both positive and negative effects on functioning and long-term outcomes, research on SIs is limited. This pilot study used a newly developed parent-report measure, the Special Interest Survey, to characterize SIs in 1992 children with ASD. The mean number of current special interests reported was 9, with television, objects, and music being most commonly endorsed interests. The mean age of onset reported across all categories was 5.24 years, with duration of past interests most often exceeding 2 years. Age of onset, interference, and relative unusualness of the SI was varied across categories. Interference was significantly correlated with the unusualness of the SIs.

Catatonia in Down syndrome: systematic approach to diagnosis, treatment and outcome assessment based on a case series of seven patients.

OBJECTIVE: The goal is to expand our knowledge of catatonia occurring in adolescents and young adults with Down syndrome (DS) by describing the first prospective, consecutive, well-characterized cohort of seven young people with DS diagnosed with catatonia and treated between 2013 and 2018, and to assess each patient's treatment responses. Longitudinal assessment of each patient's response to treatment is intended to provide clinicians and psychiatrists a firm foundation from which assess treatment efficacy. STUDY DESIGN: Young adults with Down syndrome were consecutively enrolled in the study as they were diagnosed with catatonia. A comprehensive data set included medical, laboratory, developmental, demographic, family, social and genetic data, including query into disorders for which individuals with DS are at risk. Catatonia was diagnosed based on an unequivocal history of regression, positive Bush-Francis Catatonia Rating Scale and positive response to intravenous lorazepam. Patients' longitudinal progress was monitored using the Catatonia Impact Scale (CIS) developed for this purpose. RESULTS: Seven consecutive DS patients, who presented with unequivocal regression were diagnosed with catatonia and treated for 2.7-6 years using standard-of-care therapies; primarily GABA agonist, lorazepam, electroconvulsive therapy (ECT) and glutamate antagonists (dextromethorphan/quinidine, memantine, minocycline). Responses to each treatment modality were assessed at clinic visits and through weekly electronic CIS reports. CONCLUSION: Seven young adults with DS were diagnosed with catatonia; all responded to Lorazepam and/or ECT therapy with good to very good results. Though ECT most dramatically returned patients to baseline, symptoms often returned requiring additional ECT. Dextromethorphan/quinidine, not used until mid-2017, appeared to reduce the reoccurrence of symptoms following ECT. Though all seven patients improved significantly, each continues to require some form of treatment to maintain a good level of functioning. Findings of a significant number of autoimmune disorders and laboratory markers of immune activation in this population may guide new diagnostic and treatment opportunities.

Cognitive Profiles in Youth with Autism Spectrum Disorder: An Investigation of Base Rate Discrepancies using the Differential Ability Scales--Second Edition.

Extant data suggest that the cognitive profiles of individuals with ASD may be characterized by variability, particularly in terms of verbal intellectual functioning (VIQ) and non-verbal intellectual functioning (NVIQ) discrepancies. The Differential Ability Scales, Second Edition (DAS-II) has limited data available on its use with youth with ASD. The current study examined data from 2,110 youth with ASD in order to characterize performance on the DAS-II and to investigate potential discrepancies between VIQ and NVIQ. A larger proportion of individuals in the ASD sample had significant discrepancies between VIQ and NVIQ when compared to the normative sample [early years sample χ2 (2) = 38.36; p < .001; school age sample χ2 (2) = 13.48; p < .01]. Clinical and research implications are discussed.

Psychotropic medication use among children with autism spectrum disorders within the Simons Simplex Collection: are core features of autism spectrum disorder related?

Psychotropic medication use and its relationship to autism spectrum core features were examined in a well-characterized but nonstratified North American sample (N = 1605) of children/adolescents diagnosed with autism spectrum disorders utilizing the Autism Diagnostic Observation Schedule and the Autism Diagnostic Interview-Revised, from the multisite Simons Simplex Collection. Analyses included (a) prevalence of psychotropic use (overall, and by classes), (b) correlations between prevalence of use and autism spectrum core features, age, and cognitive functioning, and (c) logistic regression to identify whether these factors were predictive of psychotropic use. Results indicated 41.7% ever used one or more classes of psychotropic medications, with attention deficit hyperactivity disorder medications used most. Small but significant correlations between psychotropic medication use and (a) social impairment (p < .001) and (b) repetitive behaviors (p < .001) were found. Overall, however, autism spectrum disorder core features are weakly related to medication use. Older children used more psychotropics (p < .001), and higher cognitive functioning was associated with less overall psychotropic use (p < .001). Logistic regression indicated that use of psychotropics was predicted by repetitive behaviors (both clinician-observed and parent-reported), age, and cognitive ability level. Limitations inherent to the Simons Simplex Collection sample, methodology, and the correlational analyses are discussed. Directions for future research include investigation of factors more influential than core symptoms on psychotropic treatment (e.g. parent perceptions, comorbid symptoms).

Utility of the social communication questionnaire-current and social responsiveness scale as teacher-report screening tools for autism spectrum disorders.

Limited research exists regarding the role of teachers in screening for Autism Spectrum Disorders (ASD). The current study examined the use of the Social Communication Questionnaire (SCQ) and Social Responsiveness Scale (SRS) as completed by parents and teachers about school-age children from the Simons Simplex Collection. Using the recommended cutoff scores in the manuals and extant literature, the teacher-completed SCQ and SRS yielded lower sensitivity and specificity values than would be desirable; however, lowering the cutoff scores on both instruments improved sensitivity and specificity to more adequate levels for screening purposes. Using the adjusted cutoff scores, the SRS teacher form appears to be a slightly better screener than the SCQ. Implications and limitations are discussed, as well as areas for future research.

Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia.

16p11.2 rearrangements are associated with developmental delay, cognitive impairment, autism spectrum disorder, behavioral problems (especially attention-deficit hyperactivity disorder), seizures, obesity, dysmorphic features, and abnormal head size. In addition, congenital anomalies and abnormal brain findings were frequently observed in patients with these rearrangements. We identified and performed a detailed microarray, phenotypic, and radiological characterization of three new patients with 16p11.2 rearrangements: two deletion patients and one patient with the reciprocal duplication. All patients have a heterozygous loss (deletion) or gain (duplication) corresponding to chromosomal coordinates (chr16: 29 528 190-30 107 184) with a minimal size of 579 kb. The deletion patients had language delay and learning disabilities and one met criteria for pervasive developmental disorder not otherwise specified. The duplication patient received a diagnosis of autism and had academic deficits and behavioral problems. The patients with deletion had long cervicothoracic syringomyelia and the duplication patient had long thoracolumbar syringomyelia. The syringomyelia in one patient with deletion was associated with Chiari malformation. Our findings highlight the broad spectrum of clinical and neurological manifestations in patients with 16p11.2 rearrangements. Our observation suggests that genes (or a single gene) within the implicated interval have significant roles in the pathogenesis of syringomyelia. A more comprehensive and systematic research is warranted to study the frequency and spectrum of malformations in the central nervous system in these patients.