Factors Associated with Confirmed and Unconfirmed Autism Spectrum Disorder Diagnosis in Children Volunteering for Research.

PURPOSE: Diagnostic accuracy of autism spectrum disorder (ASD) is crucial to track and characterize ASD, as well as to guide appropriate interventions at the individual level. However, under-diagnosis, over-diagnosis, and misdiagnosis of ASD are still prevalent. METHODS: We describe 232 children (MAge = 10.71 years; 19% female) with community-based diagnoses of ASD referred for research participation. Extensive assessment procedures were employed to confirm ASD diagnosis before study inclusion. The sample was subsequently divided into two groups with either confirmed ASD diagnoses (ASD+) or unconfirmed/inaccurate diagnoses (ASD-). Clinical characteristics differentiating the groups were further analyzed. RESULTS: 47% of children with community-based ASD diagnoses did not meet ASD criteria by expert consensus. ASD + and ASD- groups did not differ in age, gender, ethnicity, or racial make-up. The ASD + group was more likely to have a history of early language delays compared to the ASD- group; however, no group differences in current functional language use were reported by caregivers. The ASD + group scored significantly higher on ADI-R scores and on the ADOS-2 algorithm composite scores and calibrated severity scores (CSSs). The ASD- group attained higher estimated IQ scores and higher rates of psychiatric disorders, including anxiety disorder, disruptive behavior, and mood disorder diagnoses. Broadly, caregiver questionnaires (SRS-2, CCC-2) did not differentiate groups. CONCLUSION: Increased reported psychiatric disorders in the ASD- group suggests psychiatric complexity may contribute to community misdiagnosis and possible overdiagnosis of ASD. Clinician-mediated tools (ADI-R, ADOS-2) differentiated ASD + versus ASD- groups, whereas caregiver-reported questionnaires did not.

Females evaluated for autism: characteristics and co-occurring and differential DSM-5 diagnoses.

Objective: While sex differences in autism spectrum disorder (ASD) have been identified in areas such as neurocognitive functioning, behavior patterns, and diagnostic criteria, less work has focused on differences within females referred for ASD evaluation, including those who did not go on to receive a diagnosis. This study examined psychological and behavioral characteristics and co-occurring and differential DSM-5 diagnoses between pediatric female participants who received an ASD diagnosis (ASD+) and those who did not (ASD-). Method: Data on cognitive functioning, adaptive functioning, internalizing symptoms, externalizing symptoms, and ADOS-2 scores were analyzed among 137 3- to 20-year-old patients. The sample was divided into two age groups (ages 3-8 and ages 9-20) for analyses of between-group differences (ASD+ vs. ASD-) and predictors of group membership. Results: Females in the ASD+ group were significantly younger, had lower cognitive scores, lower internalizing and externalizing symptoms, and had higher Autism Diagnostic Observation Schedule-2 (ADOS-2) scores than those in the ASD- group. ADOS-2 scores were also the only significant predictor of ASD group membership across age groups. The ASD+ group had a higher percentage of intellectual disability while the ASD- group had higher percentages of anxiety disorder, attention-deficit/hyperactivity disorder, and disruptive behavior disorders. Conclusions: Psychological and behavioral presentations among females referred for ASD evaluation varied with age and ASD diagnostic groups. These results highlight potential female differences in ASD referrals and identification of ASD and the need to improve care for females in consideration of demographic factors.

Identifying Patient Characteristics to Understand Which Children May Receive Diagnostic Clarity in a Virtual Autism Spectrum Disorder Evaluation.

Given long waitlists for autism spectrum disorder (ASD) evaluation coupled with the COVID-19 pandemic, it is crucial to triage patients to services they are likely to receive diagnostic clarity (i.e., virtual, in-person evaluation). Participants attended a virtual ASD assessment. A subset also attended in-person evaluation. Results suggest younger children with educational services for ASD may benefit from virtual assessment while older patients with a history of psychiatric conditions may benefit from in-person evaluation. An ASD symptom severity tool related to virtual and in-person diagnostic clarity. Family history of ASD related to in-person diagnosis while other variables (e.g., age, educational services) did not. The study suggests patient characteristics may be used to determine for whom virtual ASD assessment may be appropriate.

Co-occurring Down Syndrome and Autism Spectrum Disorder: Cognitive, Adaptive, and Behavioral Characteristics.

The current study explores functioning in individuals with co-occurring Autism Spectrum Disorder and Down Syndrome (ASD+DS; n = 23), individuals with ASD and cognitive impairment (ASD+ID; n = 99) and individuals with idiopathic ID (n = 38). ANCOVA results revealed that individuals with ASD+DS showed strengths in behavioral functioning compared to individuals with ID and more similar behavioral functioning to those with ASD+ID (η2 = 0.12), with the exception of disruptive behaviors. Cognitive functioning (ɸc = 0.41) and ASD symptomatology (η2 = 0.11) were more comparable for children with ASD+DS and ASD + ID than for individuals with ID. Individuals with ASD+DS had the lowest overall adaptive skills (η2 = 0.11). Findings highlight similarities between ASD+DS and ASD+ID groups, emphasizing the importance of ASD identification within the DS population to provide access to specific interventions.

Survey of training experiences and clinical practice in assessment for autism spectrum disorder by neuropsychologists.

OBJECTIVE: The primary purpose of this study is to better understand current practices in the assessment of autism spectrum disorder (ASD) by neuropsychologists. METHODS: A 21-item survey regarding ASD assessment beliefs and practices was sent via email through neuropsychology listservs. The survey was accessed by 445 licensed psychologists who identified as neuropsychologists. A total of 367 surveys were deemed usable for data analysis. Descriptive statistics were used to characterize the full sample. Exploratory analyses were conducted between groups of interest, including primary population served (pediatric, adult, or lifespan), primary practice setting (medical center vs. private practice) and years in practice (< 5 years, 5 to 14 years, or 15+ years). RESULTS: Respondents were well-distributed across age range, years in practice, primary practice setting, and primary practice location. Almost all respondents (most of whom self-identified as pediatric-focused clinicians) believe that neuropsychologists should be able to competently rule in or out ASD and most received training in ASD assessment. Approximately 40% of respondents endorsed wanting more training in ASD assessment to increase their competence and confidence in making this differential diagnosis. Minimal differences in ASD beliefs and assessment practices were seen across years of practice or primary practice setting. Pediatric and lifespan clinicians had similar experience with ASD assessment practices, and both generally differed from adult clinicians. CONCLUSIONS: Our findings suggest many respondents desire further specialty ASD training for neuropsychologists. Additionally, the large majority of respondents indicated that future neuropsychologists should receive training in ASD assessment during graduate school, internship and/or post-doctoral fellowship.

Autism Diagnostic Observation Schedule (ADOS-2) elevations in a clinical sample of children and adolescents who do not have autism: Phenotypic profiles of false positives.

OBJECTIVE: While the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2) shows high sensitivity for detecting autism spectrum disorder (ASD) when present (i.e. true positives), scores on the ADOS-2 may be falsely elevated for individuals with cognitive impairments or psychological concerns other than ASD (i.e. false positives). This study examined whether demographic, psychological, cognitive, and/or adaptive factors predict ADOS-2 false positives and which psychiatric diagnoses most often result in false positives. METHOD: Sensitivity, specificity, false positive, and false negative rates were calculated among 214 5- to 16-year-old patients who completed an ADOS-2 (module 3) as part of an ASD diagnostic evaluation. Additional analyses were conducted with the 101 patients who received clinically elevated ADOS-2 scores (i.e. 56 true positives and 45 false positives). RESULTS: Results revealed a 34% false positive rate and a 1% false negative rate. False positives were slightly more likely to be male, have lower restricted and repetitive behavior (RRB) severity scores on the ADOS-2, and demonstrate elevated anxiety during the ADOS-2. Neither IQ, adaptive functioning, nor caregiver-reported emotional functioning was predictive of false positive status. Trauma-related psychiatric diagnoses were more common among false positives. CONCLUSIONS: The ADOS-2 should not be used in isolation to assess for ASD, and, in psychiatrically-complex cases, RRB symptom severity may be particularly helpful in differentiating ASD from other psychiatric conditions. Additionally, heightened levels of anxiety, more so than overactivity or disruptive behavior, may lead to non-ASD specific elevations in ADOS-2 scores.

No Sex Differences in Cognitive Ability in Young Children with Autism Spectrum Disorder.

Inconsistent findings regarding sex differences in cognition have been found in people with autism spectrum disorder (ASD). This study evaluated sex differences in cognitive-developmental functioning in a large clinical sample of young children diagnosed with ASD. The sample included children 18-68 months of age who received the Mullen Scales of Early Learning (MSEL) through Autism Treatment Network (ATN) sites from 2007 to 2013 (N = 1587, 16.7% female). In this large clinically referred sample of young children with ASD in the United States, no significant differences were found between the sexes for the MSEL Early Learning Composite (ELC) standard score, domain T Scores or age equivalents. These findings persisted when examining different age ranges, cognitive levels and domain profiles.

Early Intervention Referral Outcomes for Children at Increased Risk of Experiencing Developmental Delays.

OBJECTIVES: The primary goal was to examine outcomes of Part C early intervention (EI) referrals from a high-risk infant follow-up program and factors associated with success. A secondary aim was to determine how many referred children not evaluated by EI would have likely qualified by either automatically meeting state eligibility criteria with a condition associated with "high-probability" for developmental delays or having test scores evidencing developmental delays. METHODS: Participants included 77 children referred directly to EI from a high-risk infant follow-up program. Scores on the Bayley Scales of Infant and Toddler Development-III, basic demographics, and medical variables were extracted from electronic medical records. Information regarding referral outcomes was gathered via follow-up phone calls to EI programs several months after referral. RESULTS: Results indicate 62% of EI referrals resulted in evaluation, with 69% of those evaluated being found eligible for services. Overall, 34% of referrals resulted in EI enrollment. Of those who were not evaluated, 71% were likely to have qualified based on state eligibility criteria. Follow-up phone call results indicated the majority of families not evaluated (64%) were never successfully contacted by the EI program. CONCLUSIONS: Findings from the present study illustrate the extent of challenges in connecting families with needed EI services and indicate an opportunity for improvement in EI referral processes to increase enrollment for eligible children. Improved communication between referral sources and service providers could support enrollment with detailed documentation of prior testing and explicit reasons for referral. Follow-up calls to confirm receipt of referral may also be necessary.

Ethical Implications for Providers Regarding Cannabis Use in Children With Autism Spectrum Disorders.

Children with autism spectrum disorder (ASD) are at risk for self-injurious behaviors that can be difficult to treat in the context of co-occurring low IQ and adaptive skills. Increased prevalence and decriminalization of cannabis in some states have led to more frequent questions for pediatricians about the use of cannabis for difficult-to-treat developmental and behavioral conditions. What do we know about the possible benefits and risks of cannabis use in children with ASD? How should the clinician respond to a parent who expresses interest in cannabis to manage behavior in a child with ASD? Ethical analysis that includes harm reduction, health concerns, and information sharing will be discussed. We present commentary on the ethical implications of cannabis use in children with ASD and severe self-harm behaviors.

Part C Early Intervention Enrollment in Low Birth Weight Infants At-Risk for Developmental Delays.

Objectives To investigate enrollment patterns in Part C Early Intervention (EI) for low birth weight (LBW) infants (≤2500 g). A secondary aim is to characterize LBW infants that are not enrolled in EI, but would qualify by meeting criteria for a condition associated with a "high-probability" for developmental delays (i.e., Intraventricular Hemorrhage grade III or higher, Apgar score of ≤5 at 5 min, and/or birth weight of ≤1200 g). Methods Data were gathered from 165 LBW infants participating in a high-risk infant follow-up program. Developmental assessment was completed. Basic demographic information and data regarding enrollment in EI were collected via parent questionnaire. Medical variables were extracted from each infant's electronic medical record. Results 71.5 % of LBW infants were not enrolled in EI. Factors influencing probability of EI enrollment included birth weight, gestational age, developmental test scores, and insurance status. Of the 107 infants living in Oregon who were not enrolled in EI, 42.1 % would qualify for services due to an early medical condition identified in Oregon as a condition associated with a "high-probability" for developmental delays. Conclusions Less than one third of LBW infants were enrolled in EI by their first visit to a high-risk infant follow-up program. Those infants demonstrating developmental delays and public insurance were more likely to be enrolled. The majority of infants who have readily identifiable medical risk factors that qualify them for EI were not enrolled. This study was limited by the constraints implicated by using a clinical sample.

Perinatal medical variables predict executive function within a sample of preschoolers born very low birth weight.

The goal was to identify perinatal predictors of early executive dysfunction in preschoolers born very low birth weight. Fifty-seven preschoolers completed 3 executive function tasks: Dimensional Change Card Sort-Separated (inhibition, working memory, and cognitive flexibility), Bear Dragon (inhibition and working memory), and Gift Delay Open (inhibition). Relationships between executive function and perinatal medical severity factors (gestational age, days on ventilation, size for gestational age, maternal steroids, and number of surgeries) and chronological age were investigated by multiple linear regression and logistic regression. Different perinatal medical severity factors were predictive of executive function tasks, with gestational age predicting Bear Dragon and Gift Open; and number of surgeries and maternal steroids predicting performance on Dimensional Change Card Sort-Separated. By understanding the relationship between perinatal medical severity factors and preschool executive outcomes, we can identify children at highest risk for future executive dysfunction, thereby focusing targeted early intervention services.

Aggressive Behavior Problems in Children with Autism Spectrum Disorders: Prevalence and Correlates in a Large Clinical Sample.

Aggressive behavior problems (ABP) are frequent yet poorly understood in children with Autism Spectrum Disorders (ASD) and are likely to co-vary significantly with comorbid problems. We examined the prevalence and sociodemographic correlates of ABP in a clinical sample of children with ASD (N = 400; 2-16.9 years). We also investigated whether children with ABP experience more intensive medical interventions, greater impairments in behavioral functioning, and more severe comorbid problems than children with ASD who do not have ABP. One in four children with ASD had Child Behavior Checklist scores on the Aggressive Behavior scale in the clinical range (T-scores ≥ 70). Sociodemographic factors (age, gender, parent education, race, ethnicity) were unrelated to ABP status. The presence of ABP was significantly associated with increased use of psychotropic drugs and melatonin, lower cognitive functioning, lower ASD severity, and greater comorbid sleep, internalizing, and attention problems. In multivariate models, sleep, internalizing, and attention problems were most strongly associated with ABP. These comorbid problems may hold promise as targets for treatment to decrease aggressive behavior and proactively identify high-risk profiles for prevention.

Associations between maternal scaffolding and executive functioning in 3 and 4 year olds born very low birth weight and normal birth weight.

BACKGROUND: Deficits in executive function, including measures of working memory, inhibition and cognitive flexibility, have been documented in preschoolers born very low birth weight (VLBW) compared with preschoolers born normal birth weight (NBW). Maternal verbal scaffolding has been associated with positive outcomes for both at-risk and typically developing preschoolers. AIMS: The purpose of this study was to examine associations between maternal verbal scaffolding, Verbal IQ (VIQ) and executive function measures in preschoolers born VLBW. SUBJECTS: A total of 64 VLBW and 40 NBW preschoolers ranging in age from 3 ½ to 4 years participated in the study. OUTCOME MEASURES: VIQ was measured with the Wechsler Preschool and Primary Scale of Intelligence - Third Edition. Executive function tests included the Bear Dragon, Gift Delay Peek, Reverse Categorization and Dimensional Change Card Sort-Separated Dimensions. STUDY DESIGN: Maternal verbal scaffolding was coded during a videotaped play session. Associations between maternal verbal scaffolding and preschoolers' measures of VIQ and executive function were compared. Covariates included test age, maternal education, and gender. RESULTS: Preschoolers born VLBW performed significantly worse on VIQ and all executive function measures compared to those born NBW. Maternal verbal scaffolding was associated with VIQ for VLBW preschoolers and Gift Delay Peek for the NBW group. Girls born VLBW outperformed boys born VLBW on VIQ and Bear Dragon. CONCLUSION: Integrating scaffolding skills training as part of parent-focused intervention may be both feasible and valuable for early verbal reasoning and EF development.

Differential associations between maternal scaffolding and toddler emotion regulation in toddlers born preterm and full term.

BACKGROUND: Parental "scaffolding" behavior has been associated with developmental outcomes in at-risk children. AIMS: Because there are limited empirical data regarding how scaffolding is associated with emotion-based developmental skills, the purpose of this study was to compare associations between maternal verbal scaffolding and toddler emotion regulation, including fewer displays of negative affect and increased contentment and enjoyment during play, in toddlers born preterm and full term. STUDY DESIGN: This study was a cross-sectional cohort design. Maternal and toddler behavior was assessed during 5 min of videotaped free play with standardized toys. SUBJECTS: 131 toddlers (18-22 months) and their mothers were included (77 born preterm; 54 born full term). OUTCOME MEASURES: Toddler emotion regulation, negative affect, and dyadic mutual enjoyment were coded from videotaped play. RESULTS: The association between maternal scaffolding and emotion regulation was different for dyads with a toddler born preterm versus full term, wherein the association was positive for toddlers born preterm and non-significant for toddlers born full term. Similarly, the association between maternal scaffolding and negative affect was different for the two groups: negative for toddlers born preterm and non-significant for toddlers born full term. Finally, the association between maternal scaffolding and mutual enjoyment was positive for toddlers born preterm and non-significant for toddlers born full term. CONCLUSIONS: Our findings highlight early differences in mother-child interactive style correlates of children born preterm compared to those born full term. Maternal scaffolding behavior may be uniquely associated with emotion regulation and a positive dyadic encounter for toddlers born preterm.

Comparison of structural magnetic resonance imaging and development in toddlers born very low birth weight and full-term.

Research suggests that regional structural differences can be associated with the neurodevelopmental impairments faced by children born very low birth weight. However, most studies have used magnetic resonance imaging (MRI) during the neonatal period or during adolescence. The current study used structural MRI to examine relationships between regional volume differences in toddlers (18-22 months adjusted age) born very low birth weight (n = 16) and full-term (n = 10) and neurodevelopmental outcomes, including cognition, language, and early executive functioning. Compared with the full-term group, the very low birth weight group had larger third ventricles and smaller cerebral white matter, thalamus, hippocampus, cerebellum white matter, and anterior cingulate volume. Additionally, a significant interaction was found between language and early executive function scores and cerebral white matter volumes between groups, suggesting that young children born very low birth weight can have different trajectories in the growth and development of overall brain structure.

Early working memory and maternal communication in toddlers born very low birth weight.

AIM: Early working memory is emerging as an important indicator of developmental outcome predicting later cognitive, behavioural and academic competencies. The current study compared early working memory in a sample of toddlers (18-22 months) born very low birth weight (VLBW; n = 40) and full term (n = 51) and the relationship between early working memory, mental developmental index (MDI), and maternal communication in both samples. METHODS: Early working memory, measured by object permanence; Bayley mental developmental index; and maternal communication, coded during mother-toddler play interaction, were examined in 39 toddlers born VLBW and 41 toddlers born full term. RESULTS: Toddlers born VLBW were found to be 6.4 times less likely to demonstrate attainment of object permanence than were toddlers born full term, adjusting for age at testing. MDI and maternal communication were found to be positively associated with attainment of object permanence in the VLBW group only. CONCLUSION: The difference found in the early working memory performance of toddlers born VLBW, compared with those born full term, emphasizes the importance of assessing early working memory in at-risk populations, while the maternal communication finding highlights potential targets of intervention for improving working memory in toddlers born VLBW.