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Males are more likely to be diagnosed with autism than females, and at earlier ages, yet few studies examine sex differences in screening. This study explored sex differences in psychometric properties, recommended cutoff scores, and overall scores of the Modified Checklist for Autism in Toddlers, Revised, with Follow-Up. Participants were 28,088 toddlers enrolled in four early detection of autism studies. Children (N = 731) at high likelihood for autism attended evaluations after screening and/or primary care clinician concern. Females were less likely to screen at high likelihood for autism at each stage of screening and therefore less likely to be invited for evaluations. Positive predictive value was significantly lower among females than males, but sensitivity was similar. False positive females were likely to have another developmental delay. Cutoff scores for males and females matched recommended guidelines. Final scores on the Modified Checklist for Autism in Toddlers, Revised, with Follow-Up did not differ between males and females diagnosed with autism, but did for the overall sample identified at high likelihood for autism. Our findings suggest that females are less likely to be referred for evaluations, but the Modified Checklist for Autism in Toddlers, Revised, with Follow-Up accurately identifies both males and females with autism at established cutoffs. Future research should examine methods to reduce false positive in females.

Research on sex differences in autism spectrum disorder (ASD) suggests both higher prevalence and a more easily observable presentation of core ASD symptomology in males, which may lead to sex differences in parental concerns. The current study examined whether sex and diagnosis relate to the timing, number, and types of pre-diagnosis concerns for 669 (N[subscript male] = 468) toddlers who screened at risk for ASD. No sex differences in parents' concerns emerged for toddlers diagnosed with ASD; however, in the overall at-risk sample, parents of boys endorsed ASD symptoms, including restricted and repetitive behaviors, more than parents of girls. Future research should examine why sex differences in pre-diagnosis concerns emerge and how they might impact early diagnosis for at-risk boys versus girls.

Background: Many diagnostic evaluations abruptly shifted to telehealth during the COVID‐19 pandemic; however, little is known about the impact on diagnosis patterns for children evaluated for autism spectrum disorder (ASD). The purpose of this clinical research study was to examine (1) the frequency of diagnoses evaluated beyond ASD; (2) the frequency of diagnoses made, including ASD; and (3) clinician diagnostic certainty for all diagnoses evaluated for children who received an evaluation due to primary concerns about ASD via telehealth during the pandemic compared to those evaluated in person before the pandemic at an ASD specialty clinic. Methods: The sample included 2192 children, 1–17 years (M = 6.5 years; SD = 3.9), evaluated by a physician/psychologist at an ASD specialty center. A total of 649 children were evaluated in‐person September 1, 2019–March 13, 2020 (pre‐pandemic) and 1543 were evaluated via telehealth March 14, 2020–July 26, 2021 (during pandemic). Upon completion of each evaluation, clinicians provided a final diagnostic determination (i.e., "Yes," "No," "Possible," or "Not Assessed") for the following DSM‐5 conditions: ASD, attention‐deficit/hyperactivity disorder (ADHD), intellectual developmental disorder (IDD), anxiety (ANX), depression (DEP), and behavioral disorder (BD). "Possible" indicated lower certainty and the diagnosis was not provided. "Not Assessed" indicated the disorder was not evaluated. Results: Diagnostic certainty for ASD and ADHD was lower and clinicians evaluated for and made diagnoses of IDD less often during evaluations that occurred via telehealth during the pandemic versus in person before the pandemic. DEP and BD were diagnosed more frequently, diagnostic certainty of DEP was lower, and no differences in the frequency of ANX diagnoses emerged during evaluations conducted via telehealth during the pandemic compared to those conducted in person before the pandemic. Conclusions: Differences emerged in the frequency of diagnoses evaluated and made and diagnostic certainty for evaluations conducted via telehealth during the pandemic compared to in person before the pandemic, which likely impacted patients and reflect real‐word challenges. Future work should examine whether these patterns are generalizable and the mechanisms that contribute to these differences. [ABSTRACT FROM AUTHOR]

Objective: Missed patient appointments have a substantial negative impact on patient care, child health and well-being, and clinic functioning. This study aims to identify health system interface and child/family demographic characteristics as potential predictors of appointment attendance in a pediatric outpatient neuropsychology clinic. Method: Pediatric patients (N = 6,976 across 13,362 scheduled appointments) who attended versus missed scheduled appointments at a large, urban assessment clinic were compared on a broad array of factors extracted from the medical record, and the cumulative impact of significant risk factors was examined. Results: In the final multivariate logistic regression model, health system interface factors that significantly predicted more missed appointments included a higher percentage of previous missed appointments within the broader medical center, missing pre-visit intake paperwork, assessment/testing appointment type, and visit timing relative to the COVID-19 pandemic (i.e. more missed appointments prior to the pandemic). Demographic characteristics that significantly predicted more missed appointments in the final model included Medicaid (medical assistance) insurance and greater neighborhood disadvantage per the Area Deprivation Index (ADI). Waitlist length, referral source, season, format (telehealth vs. in-person), need for interpreter, language, and age were not predictive of appointment attendance. Taken together, 7.75% of patients with zero risk factors missed their appointment, while 22.30% of patients with five risk factors missed their appointment. Conclusions: Pediatric neuropsychology clinics have a unique array of factors that impact successful attendance, and identification of these factors can help inform policies, clinic procedures, and strategies to decrease barriers, and thus increase appointment attendance, in similar settings. [ABSTRACT FROM AUTHOR]

The reliability of teleneuropsychology (teleNP) within pediatric populations, particularly those with low intellectual functioning (LIF; i.e., Intellectual Quotient <80), is largely unknown. This repeated-measures study compared performance on WISC-V and WAIS-IV subtests administered in-person before the COVID-19 pandemic and via teleNP during the pandemic in individuals with LIF versus broadly average (BA) intellectual functioning in a clinically referred pediatric cohort. Data were collected from a retrospective chart review of 35 pediatric patients who underwent in-person neuropsychological evaluation at an academic medical center before the pandemic (Mage = 10.10 years, SD = 2.93) and videoconference teleNP assessment during the pandemic (Mage = 13.47 years, SD = 2.88). Participants completed the Similarities, Matrix Reasoning, and Digit Span subtests from the WISC-V or WAIS-IV at both time points. After controlling for test–retest time interval, partial correlations showed relatively strong associations in test–retest performance across subtests in the whole sample and among the subset of LIF patients. Distribution of significant reliable change indices (RCI) between the LIF and BA groups were similar. Strong correlations were observed between performances on select Wechsler subtests administered in-person and via teleNP. Results lend initial support toward the utility of teleNP administration of these measures in children with a broad range of intellectual functioning. [ABSTRACT FROM AUTHOR]

T-tests from 42 brain tumor patients showed adaptive functioning below normative means at both time points (test interval M=2.60y, SD=1.32). Neurological risk, time since diagnosis,age at diagnosis, age at evaluation, and time since evaluation were correlated with specific adaptive skills. There was a main effect of age at diagnosis, age at assessment, time since diagnosis, and neurological risk as well as an interaction of age at diagnosis × neurological risk for specific adaptive skills. Results highlight the importance of considering the relationship between developmental and medical variables on changes in adaptive functioning in survivors of pediatric brain tumors. [ABSTRACT FROM AUTHOR]

Objective The recent American Academy of Clinical Neuropsychology (AACN) consensus statement on uniform labeling of performance test scores places children who were previously characterized as having "borderline intellectual functioning" within the low average (LA; full scale intellectual quotient (FSIQ) between 80-89) or below average (BA; FSIQ between 70-79) categories. Given limited research examining functional differences across FSIQ groups using AACN's uniform labeling, this study examined adaptive and academic functioning by FSIQ group in youth referred for (neuro)psychological evaluation. Primary comparisons of interest were between LA and BA groups. MethodParticipants were 2,516 children between 6 to 13 years with standardized measures of intellectual, adaptive, and academic functioning. Participants were included if their FSIQ ranged from average to exceptionally low. Group differences in adaptive functioning and academic achievement were examined. ResultsThe LA group did not differ from the BA group in overall adaptive functioning and several domains of adaptive functioning (i.e. social, practical), but demonstrated slightly stronger adaptive skills in the conceptual domain. While the LA group evidenced slightly better word reading and math computation scores than the BA group, these statistically significant differences were not clinically -meaningful. ConclusionsIn this clinically referred sample, children with LA and BA intellectual abilities demonstrated similar adaptive skills, but slightly different academic achievement. Both groups demonstrated lower adaptive and academic functioning than children with average range FSIQs. These results suggest that adaptive functioning should be assessed during (neuro)psychological evaluations even when children do not have extremely low FSIQs. [ABSTRACT FROM AUTHOR]

A diagnosis of autism spectrum disorder (ASD) provides access to interventions that are important for fostering development and improving quality of life. Thus, the timeliness of a diagnosis should not be limited by social-distancing limitations whenever possible. Despite this, clear guidance for transitioning autism diagnostic services to a telehealth model of care in the era of the COVID-19 pandemic is lacking. At our Institute, we have adapted our approach to ASD evaluation to promote continued access to evaluation services during this unprecedented time. The purpose of this case series is to provide examples of three different approaches to ASD differential diagnostic services via telehealth that we have taken at our Institute. We illustrate our methods and clinical decision-making, based on patient characteristics and referral aims, in providing telehealth diagnostic services and discuss the advantages and limitations of telehealth utilization in the differential diagnosis of ASD. At our Institute, telehealth services have provided an invaluable opportunity to continue to confirm (or rule out) an ASD diagnosis when appropriate to facilitate access to services during this time. Future research examining the utility of telehealth in the differential diagnosis of ASD is imperative given the potential advantages of telehealth services beyond the COVID-19 pandemic for some patients. [ABSTRACT FROM AUTHOR]

There is higher risk for autism spectrum disorder (ASD) across many pediatric neurological conditions characterized by vision impairment or hearing loss. Early and accurate identification of ASD is imperative in promoting access to appropriate and early evidenced-based intervention; however, differential diagnosis can be particularly challenging in children with sensory impairment given the heterogeneity of ASD combined with the impact of vision impairment or hearing loss/deafness on development and behavior. A neuropsychologist's unique expertise and appreciation of the interplay between sensory and behavioral manifestations can be valuable for making an early and accurate ASD diagnosis in children who are blind/visually impaired or deaf/hard-of-hearing. This article highlights clinical considerations when identifying ASD within the context of vision impairment or hearing loss/deafness. We discuss clinical considerations for the early identification of ASD in children who are blind/visually impaired and deaf/hard-of-hearing. Information presented in the article is based on a critical review of the literature and the expertise of the author group. Ongoing development of clinical expertise and evidence-based assessment methods are important when informing the early differential diagnosis of ASD in individuals with sensory impairment. Accurate identification is also vital for the development of targeted interventions across the lifespan. [ABSTRACT FROM AUTHOR]

Objective: Despite a movement toward tele-based clinical services in other healthcare domains, implementation of these services within neuropsychology, particularly with pediatric populations, is limited. With the onset of social distancing due to COVID-19, the field of pediatric neuropsychology is encouraged to consider the utility of non-traditional, tele-neuropsychological assessments. In order to accommodate ongoing service needs for medically and neurodevelopmentally complex children, a novel three-tiered telehealth service model of care was developed and implemented in a large pediatric outpatient neuro/psychological clinic within an academic medical center. Method: In this article, we provide case examples that illustrate the clinical implementation of this three-tiered telehealth service model of care for serving children during this uncertain time. Conclusion: The primary aim of this article is to provide examples outlining how clinical service decisions were made in the application of this three-tiered model for children with complex medical and neurodevelopmental histories. This article is intended to serve as a guide for other pediatric neuropsychology providers considering tele-neuropsychological services for complex pediatric patients during social distancing. [ABSTRACT FROM AUTHOR]

Existing clinical tools that measure non-seizure outcomes lack the range and granularity needed to capture skills in developmental and epileptic encephalopathy (DEE)-affected individuals who also fall in the severe to profound range of intellectual disability. This effectively excludes those with severe impairments from clinical trials, impeding the ability of sponsors to evaluate disease-modifying therapies (DMTs). The Inchstone Project, an international, patient advocate-led collaboration, brings together leading researchers, clinicians, pharmaceutical companies, and advocates to develop an adapted, validated assessment battery within 5 years. The goal is to support trials of DMTs for the DEEs by providing sufficiently sensitive measurement tools to demonstrate therapeutic efficacy. An initial pilot study administered 7 established assessments to 10 individuals affected by SCN2A-DEE, identifying specific limitations of existing measures and areas for improvement. It was clear that most tools do not account for challenges throughout the DEE population, including vision impairments, significant motor impairments and profound intellectual disability, which need to be accounted for in creating a 'fit-for-purpose' battery for the DEE population. Several novel assessments, including two measures of responsivity developed for use in monitoring recovery after acquired brain injury as well as individualized Goal Attainment Scaling, showed promise in this group. The team also completed a DEE-wide survey with over 270 caregivers documenting their children's abilities and priorities for their improvement from new treatments. The Inchstone team is using this information to evaluate how existing tools might be updated to better capture what is most important to families and measure their child's small but important improvements over time. These efforts are building a coherent picture across multiple DEEs of what domains, or concepts of interest, have the greatest impact on most patients and families. The Inchstone team is on course to adapt non-seizure outcome measures that are (1) sufficiently sensitive to measure small increments of meaningful change ('Inchstones') and (2) applicable to multiple DEE conditions., Competing Interests: The authors declare that there is no conflict of interest., (© The Author(s), 2024.)