Cortical Vision Impairment (CVI)-informed assessment and treatment of challenging behavior in a child with SCN2A-related disorder.

This report presents results of parent-implemented behavioral treatments for a child with cortical visual impairment (CVI), intellectual disability (ID), epilepsy, and autism spectrum disorder (ASD) associated with a pathogenic variant in the SCN2A gene (i.e., SCN2A-Related Disorder).

Novel approaches to measuring cognition in individuals with severe to profound functional impairment: A pilot study in SCN2A-related disorder.

Valid clinical outcome assessments with the ability to capture meaningful aspects of neurodevelopment for individuals with neurogenetic conditions associated with profound functional impairments are lacking, yet critical for clinical care and clinical trial readiness. The purpose of this pilot study was to examine and compare the initial psychometric properties of a series of commonly used standardized and norm-referenced measures of cognition and adaptive functioning as well as alternative measures of neurobehavioral functioning designed to capture responsivity (i.e.

Patient-advocate-led global coalition adapting fit-for-purpose outcomes measures to assure meaningful inclusion of DEEs in clinical trials.

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.

Diagnostic certainty during in-person and telehealth autism evaluations.

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 ( = 6.

Caregiver and family functioning after pediatric disorder of consciousness: telephone-based outcome assessment.

Objective: Examine initial feasibility/utility of a telephone-administered measure in describing impact of child health on caregiver/family functioning in patients with a history of a disorder of consciousness (DoC) due to severe-acquired brain injury (ABI).

Method: Caregivers of patients admitted at least 1 year prior for inpatient rehabilitation with DoC completed a battery of measures administered via telephone examining the impact of child health on caregiver/family functioning (Pediatric Quality of Life Family Impact Module; PedsQL-FIM) and child functioning.

Results: Forty-one caregivers of unique patients (age = 5-22 years;  = 14.

FDA Patient-Focused Drug Development Guidances: Considerations for Trial Readiness in Rare Developmental and Epileptic Encephalopathies.

Developmental and epileptic encephalopathies (DEE) are rare, often monogenic neurodevelopmental conditions. Most affected individuals have refractory seizures. All have multiple severe impairments which can be as life-limiting as or more limiting than the seizures themselves.

Severe behavior problems in SYNGAP1-related disorder: A summary of 11 consecutive patients in a tertiary care specialty clinic.

SYNGAP1-related disorder (SYNGAP1-RD) is a neurodevelopmental disorder that is commonly associated with epilepsy, autism spectrum disorder (ASD), and disruptive behaviors. In this study, behavior problems in 11 consecutive patients with SYNGAP1-RD are described and quantified based on a behavioral screening conducted within the context of a multi-disciplinary tertiary care specialty clinic visit. The behavioral phenotype was then compared to published samples of behavior problems in ASD and other genetic cause of epilepsy occurring in the context of neurodevelopmental disorders using results from the Aberrant Behavior Checklist-Community (ABC-C), an empirically derived outcome measure.

Prevalence of gastrointestinal symptoms among autistic individuals, with and without co-occurring intellectual disability.

Gastrointestinal symptoms (GI) are very common among individuals on the autism spectrum. Prior research reports mixed findings regarding whether individuals with autism and co-occurring intellectual disability (ID) have elevated risk of gastrointestinal symptoms relative to individuals with autism alone. GI symptoms can be challenging to assess in individuals with autism spectrum disorder (ASD) and/or ID given challenges with language, communication, and interoception.

To confirm your appointment, please press one: Examining demographic and health system interface factors that predict missed appointments in a pediatric outpatient neuropsychology clinic.

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. Pediatric patients ( = 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.

The Interaction of Age at Diagnosis and Neurological Risk Predicts Adaptive Functioning Changes in Pediatric Brain Tumor Survivors.

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).

Sex differences in early autism screening using the Modified Checklist for Autism in Toddlers, Revised, with Follow-Up (M-CHAT-R/F).

This study examined a widely used autism screening tool, the Modified Checklist for Autism in Toddlers, Revised, with Follow-Up to identify differences in screening for autism between toddler males and females. Examining sex differences in screening for autism in toddlerhood is important as it determines who will be referred for evaluations and receive diagnoses, which is critical for access to autism-specific early intervention. This study found that females were less likely to screen positive and be invited for evaluations compared with males.

Clinical utility of teleneuropsychology among pediatric patients with broadly average and low intellectual functioning.

The reliability of teleneuropsychology (teleNP) within pediatric populations, particularly those with low intellectual functioning (LIF; i.e., Intellectual Quotient <80), is largely unknown.

Outcome Measurement in Children With a History of Disorders of Consciousness After Severe Brain Injury: Telephone Administration of the Vineland Adaptive Behavior Scales, Third Edition, and Glasgow Outcome Scale-Extended Pediatric Revision.

Objectives: Examine initial feasibility and utility of a battery of measures administered via telephone interview with a caregiver for describing long-term outcomes in individuals with a history of disorders of consciousness (DoC) after pediatric acquired brain injury (ABI).

Design: Cross-sectional.

Setting: Caregiver interview administered via telephone.

Tumor region associated with specific processing speed outcomes.

Objective: Processing speed (PS) is a vulnerable cognitive skill in pediatric cancer survivors as a consequence of treatments and, less consistently, tumor region. Studies conventionally examine graphomotor PS; emerging research suggests other aspects of PS may be impacted. This study examined types of PS in pediatric brain tumor survivors to determine which aspects are impaired.

Working Memory and Processing Speed Predict Math Skills in Pediatric Brain Tumor Survivors.

Objective: Childhood brain tumor (BT) survivors are at risk for working memory (WM) and processing speed (PS) deficits, which impact other cognitive domains. This study aimed to characterize WM, PS, and untimed mathematics calculation performance in pediatric BT survivors at least 2 years post-diagnosis, identify medical factors associated with deficits in mathematics, and examine whether WM and/or PS predict mathematics performance in this clinical sample.

Methods: Retrospective data were gathered from 72 BT survivors between 7 and 21 years of age ( M =13.

Profiles and correlates of language and social communication differences among young autistic children.

Delays in early language development are characteristic of young autistic children, and one of the most recognizable first concerns that motivate parents to seek a diagnostic evaluation for their child. Although early language abilities are one of the strongest predictors of long-term outcomes, there is still much to be understood about the role of language impairment in the heterogeneous phenotypic presentation of autism. Using a person-centered, Latent Profile Analysis, we first aimed to identify distinct patterns of language and social communication ability in a clinic-based sample of 498 autistic children, ranging in age from 18 to 60 months ( = 33 mo, = 12 mo).

Replication study for ADOS-2 cut-offs to assist evaluation of autism spectrum disorder.

The Autism Diagnostic Observation Schedule, Second Edition (ADOS-2) has been widely used for ASD assessment. While prior studies investigated sensitivity and specificity of ADOS-2 Modules 1-3, there has been limited research addressing algorithm cut-off scores to optimize ADOS-2 classification. The goal of this study was to assess algorithm cut-off scores for diagnosing ASD with Modules 1-3, and to evaluate alignment of the ADOS-2 classification with the best estimate clinical diagnosis.

Characterizing and comparing adaptive and academic functioning in children with low average and below average intellectual abilities.

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.

Analysis of Race and Sex Bias in the Autism Diagnostic Observation Schedule (ADOS-2).

Importance: There are long-standing disparities in the prevalence of autism spectrum disorder (ASD) across race and sex. Surprisingly, few studies have examined whether these disparities arise partially out of systematic biases in the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), the reference standard measure of ASD.

Objective: To examine differential item functioning (DIF) of ADOS-2 items across sex and race.

Considerations for the identification of autism spectrum disorder in children with vision or hearing impairment: A critical review of the literature and recommendations for practice.

Objective: 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.

Telehealth diagnosis of autism spectrum disorder through clinical cases.

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.

A case series illustrating the implementation of a novel tele-neuropsychology service model during COVID-19 for children with complex medical and neurodevelopmental conditions: A companion to Pritchard et al., 2020.

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.

A novel social attribution paradigm: The Dynamic Interacting Shape Clips (DISC).

The Dynamic Interacting Shape Clips (DISC) is a novel stimulus set designed to examine mentalizing, specifically social attribution, suitable for use with diverse methodologies including fMRI. The DISC offer some advantages compared to other social attribution stimuli including a large number of stimuli, subsets of stimuli depicting different kinds of social interactions (i.e.