Early Indicators of Creatine Transporter Deficiency.

Early identification is a goal for creatine transporter deficiency and will be critical for future treatment. Before their first birthday, one-half of this sample showed both a significant feeding/weight gain issue and delayed sitting or crawling. Combined, these early indicators could have alerted providers to conduct a urine screen.

Categorizing and identifying preferred interests in autistic toddlers.

Preferred interests are characteristic of autism spectrum disorder and are reported by parents starting at an early age. However, limited research has explored the presentation of preferred interests in toddlerhood. Previous literature suggests that both the intensity and type of preferred interests held by autistic individuals differ from those held by peers with developmental delay and no diagnosis and that autistic interests are more unusual in nature. While preferred interests are seen in typical child development, previous research suggests that the presence of preferred interests in children with no diagnosis declines with age. Literature also indicates that the sex and cognitive ability of autistic children influences preferred interests. Identification of early preferred interests commonly held by autistic toddlers could serve as a useful clinical indicator of future diagnosis. This article explored whether diagnostic group, age, sex, and cognitive ability predict the likelihood that parents reported preferred interests in children aged 12-36 months with diagnoses of autism, developmental delay, and those with no diagnosis. Additionally, we explored potential diagnostic group differences in interest type. Results suggest that diagnostic group, but not age, sex, or cognitive ability, predicts the likelihood that parents report preferred interests. No differences in the type of interests among diagnostic groups were identified. These results support the use of preferred interests as an early sign of autism but suggest that interest type may not be a helpful clinical indicator of autism in toddlerhood.

Accuracy of initial diagnostic impressions of autism in toddlers and behaviors that inform these impressions.

Clinicians form initial impressions about a child's diagnosis based on behavioral features, but research has not yet identified specific behaviors to guide initial diagnostic impressions. Participants were toddlers (N = 55, mean age 22.9 months) from a multi-site early detection study, referred for concern for ASD due to screening or parent/provider concern. Within 5 min of meeting a child, clinicians noted ASD or non-ASD impression, confidence in impression, and behaviors that informed their impression. These clinicians also determined final diagnoses for each child. When a child's final diagnosis was ASD (n = 35), senior clinicians formed an initial impression of ASD in 22 cases (63%) but missed 13 cases (37%). When final diagnosis was non-ASD (n = 20), senior clinicians made an initial impression of non-ASD in all cases (100%). Results were similar among junior clinicians. Senior and junior clinicians used the same behaviors to form accurate impressions of ASD and non-ASD: social reciprocity, nonverbal communication, and eye contact. Senior clinicians additionally used focus of attention when forming accurate impressions of ASD and non-ASD; junior clinicians used this behavior only when forming accurate non-ASD impressions. Clinicians' initial impressions of ASD are very likely to be consistent with final diagnoses, but initial impressions of non-ASD need follow-up. Toddlers who show all four atypical behaviors (social reciprocity, nonverbal communication, eye contact, and focus of attention) might receive expedited ASD diagnoses. However, presence of apparently typical behaviors should not rule out ASD; for some children a longer evaluation is necessary to allow for more opportunities to observe subtle social behavior.

Predicting Language in Children with ASD Using Spontaneous Language Samples and Standardized Measures.

This longitudinal study examined the degree to which standardized measures of language and natural language samples predicted later language usage in a heterogeneous sample of children with autism spectrum disorder (ASD), and how this relationship is impacted by ASD severity and interventions. Participants with a diagnosis of ASD (N = 54, 41 males) completed standardized assessments of language and social functioning; natural language samples were transcribed from play-based interactions. Findings indicated that standardized language measures, natural language measures, and ADOS severity were each unique predictors of later lexical use. Intervention types also appeared to impact later language; in particular, participation in mainstream inclusion accounted for significant amounts of variance in children's mean length of utterance at T3.

Initial diagnostic impressions of trainees during autism evaluations: High specificity but low sensitivity.

Reducing the age of first autism diagnosis facilitates access to critical early intervention services. A current "waitlist crisis" for autism diagnostic evaluation thus demands that we consider novel use of available clinical resources. Previous work has found that expert autism clinicians can identify autism in young children with high specificity after only a brief observation; rapid identification by non-experts remains untested. In the current study, 252 children ages 12-53 months presented for a comprehensive autism diagnostic evaluation. We found that junior clinicians in training to become autism specialists (n = 29) accurately determined whether or not a young child would be diagnosed with autism in the first five minutes of the clinic visit in 75% of cases. Specificity of brief observations was high (0.92), suggesting that brief observations may be an effective tool for triaging young children toward autism-specific interventions. In contrast, the lower negative predictive value (0.71) of brief observations, suggest that they should not be used to rule out autism. When trainees expressed more confidence in their initial impression, their impression was more likely to match the final diagnosis. These findings add to a body of literature showing that clinical observations of suspected autism should be taken seriously, but lack of clinician concern should not be used to rule out autism or overrule other indicators of likely autism, such as parent concern or a positive screening result.

An initial trial of OPT-In-Early: An online training program for caregivers of autistic children.

LAY ABSTRACT: Early intervention can help children learn language and improve social communication. However, many barriers, including the expense of services and an insufficient number of providers, prohibit families from accessing services when their children are young. We developed a comprehensive online program for caregivers of autistic children. The program, Online Parent Training in Early Behavioral Intervention (OPT-In-Early), uses text and video demonstrations to teach caregivers effective methods for improving their children's language, social, and adaptive skills (e.g. using utensils, toilet training), and reducing their children's disruptive behavior. Sixty-three parents from three states participated in the study. Half of the parents received access to the OPT-In-Early program. After 4 months, parents who had access to the OPT-In-Early program learned more effective intervention strategies, and started using these strategies during interactions with their children, than parents who did not receive access to the program. Parent participation in OPT-In-Early did not significantly influence children's social communication compared to children whose parents did not have access to OPT-In-Early. A longer duration of parents using learned intervention skills with their children may be needed for children's social communication skills to improve.

Online administration of the ADOS for research with adolescents and adults in response to the pandemic.

This study evaluates an online ADOS-2 Module 4 administration. Adolescents and adults with (n = 24; 7 females) and without (n = 13; 5 females) a history of autism spectrum disorder (ASD) completed the ADOS-2 Module 4 via videoconference. Parents or caregivers completed the Parent/Caregiver Form of the Vineland Adaptive Behavior Scales and the Achenbach Adult Behavior Checklist. The ADOS-2 was reviewed and scored by five trained clinicians and supervised by a senior clinician with established research reliability. The autistic group's scores differed on ADOS total (Calibrated Severity Score, WPS instrument) and domain scores, KSADS domain scores, and Achenbach T-scores. Inter-rater reliability was "moderate" (κ = 0.732), and percentage item-wise agreement was r = 0.69. The online ADOS-2 showed significant convergence with parent-reported assessments of ASD-relevant symptoms and characteristics, suggesting it was a valid assessment. While any online assessments must be used with caution, results suggest that the approach described here could have sufficient validity and reliability to fill the urgent need to assess and evaluate ASD symptomatology, as one component of a thorough clinical evaluation of ASD-related behaviors. LAY SUMMARY: In this exploratory study, we asked whether it was possible to give the ADOS-2 to adolescents and adults in a completely online way. Results showed that expert clinicians agreed on 69% of ADOS-2 items; also, participants with autism had higher scores on all parts of the ADOS-2. The online ADOS-2 scores had strong and significant relationships with parents' reports of friendship and social skills. While we need more research that tests this method, this way of doing the ADOS-2 online may be useful for clinicians and researchers who have an urgent need to evaluate autism during the pandemic.

Symptoms of autism spectrum disorder and developmental delay in children with low mental age.

Objective: Autism spectrum disorder (ASD) in very young children with significant cognitive impairment is difficult to diagnose, depriving them of the earliest opportunities for autism-specific intervention. This study delineated specific symptoms in this group, compared to symptoms in children with Global Developmental Delay (GDD) and in ASD with milder developmental delays.Method: Autism Diagnostic Observation Schedule, 2nd Edition, Toddler Module revealed symptoms in three groups of toddlers, with mean ages of 17-20 months: (1) ASD and cognitive/language functioning below the 12-month level (ASD-MA < 12 mos; n = 28), (2) GDD (n = 27), and (3) ASD and cognitive/language functioning at or above the 12-month level (ASD-MA ≥ 12 mos; n = 29). Logistic regression models were fit to control for developmental level. Results: Items in all domains (social interaction, communication, repetitive movements) discriminated ASD-MA < 12 mos from GDD. The two ASD groups, matched for age but differing on developmental level, showed strikingly similar ASD symptomatology. Conclusion: ADOS-2 symptoms differentiated ASD-MA < 12 mos from GDD, after controlling for cognitive impairment. Symptoms in the two ASD groups were minimally related to developmental level. The ADOS-2 Toddler Module successfully captured ASD symptomatology even in children whose developmental level was below the recommended ADOS-2 cutoff of 12 months, which may increase their access to early ASD-specific intervention.

Development and Acceptability of a New Program for Caregivers of Children with Autism Spectrum Disorder: Online Parent Training in Early Behavioral Intervention.

Early intervention with parent participation is important for facilitating skill development in children with Autism Spectrum Disorder (ASD). However, many barriers delay or prohibit families from accessing care. We describe the development and acceptability of a novel, comprehensive, self-directed online program for caregivers of children with ASD. Program effectiveness will be presented in a subsequent manuscript. The program is based on behavioral, naturalistic, and developmental principles, and teaches caregivers to use evidence-based interventions to teach developmentally appropriate targets. Approximately two-thirds of enrolled parents completed all 14 modules; barriers to completion for the additional families are described. Parents reported that the program was clear, enjoyable, and useful in teaching them interventions and in improving their children's skills and behavior.

The first five minutes: Initial impressions during autism spectrum disorder diagnostic evaluations in young children.

Diagnosticians report that autism spectrum disorder (ASD) is immediately apparent in some, but not all, children ultimately diagnosed. Clinicians' initial diagnostic impressions have implications for ASD early detection, yet the literature raises questions about their accuracy. This study explores diagnostic impressions of ASD specialists made within the first 5 minutes of meeting a young child and investigates factors associated with the match between initial impressions and final diagnoses. Participants were children (n = 294, aged 12-53 months) referred for an ASD evaluation as part of multi-site ASD screening studies. After 5 minutes observing each child, clinicians with expertise diagnosing ASD recorded if they thought the child would meet criteria for ASD following a complete evaluation, and recorded their confidence in this impression. Clinicians' initial impressions matched the final diagnosis in 81% of cases. Ninety-two percent of cases initially thought to have ASD met criteria following a full evaluation; however, 24% of cases initially thought not to have ASD also met criteria, suggesting a high miss rate. Clinicians were generally confident in their initial impressions, reporting highest confidence for children initially thought correctly not to have ASD. ASD behavioral presentation, but not demographic characteristics or developmental level, were associated with matching initial impression and final diagnosis, and confidence. Brief observations indicating ASD should trigger referral to intervention services, but are likely to under-detect positive cases and should not be used to rule out ASD, highlighting the need to incorporate information beyond initial clinical impression. LAY SUMMARY: When children come in for an autism evaluation, clinicians often form early impressions-before doing any formal testing-about whether the child has autism. We studied how often these early impressions match the final diagnosis, and found that clinicians could not easily rule out autism (many children who initially appeared not to have autism were ultimately diagnosed), but were generally accurate ruling in autism (when a child appeared to have autism within 5 minutes, they were almost always so diagnosed).

Effect of Brief Training to Identify Autism Spectrum Disorder During Toddler Well-Child Care Visits.

OBJECTIVE: To examine the effect of a brief Enhanced training using the information-motivation-behavior (IMB) change model on improving providers' surveillance rates and accuracy of autism spectrum disorder (ASD) detection. METHOD: Toddlers (n = 5,672) were screened for ASD during their pediatric well-child visits. Pediatric providers (n = 120) were randomized to receive Enhanced (incorporating components of the IMB model) or Control training. Providers indicated whether they had an ASD concern at each well-child visit. Toddlers who were positive on any screener and/or whose provider indicated ASD concern were invited for a diagnostic evaluation. Differences in provider-indicated ASD concerns before and after training were evaluated using log-linear analyses. RESULTS: The Enhanced training did not have a significant effect on provider-endorsed ASD concerns (p = 0.615) or accuracy of endorsing concerns (p = 0.619). Providers in the Control training showed a significant reduction in indicating whether or not they had concerns after the training (from 71.9% to 64.3%), which did not occur in the Enhanced group. The Enhanced training led to more frequent endorsements of language (χ2 = 8.772, p = 0.003) and restricted and repetitive behavior (χ2 = 7.918, p = 0.005) concerns for children seen after training. CONCLUSION: Provider training had limited impact on ASD surveillance, indicating the importance of using formal screening instruments that rely on parent report during well-child visits to complement developmental surveillance. Future research should examine whether providers who indicate specific concerns are more likely to accurately refer children for ASD evaluations.

Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders.

Although norm-referenced scores are essential to the identification of disability, they possess several features which affect their sensitivity to change. Norm-referenced scores often decrease over time among people with neurodevelopmental disorders who exhibit slower-than-average increases in ability. Further, the reliability of norm-referenced scores is lower at the tails of the distribution, resulting in floor effects and increased measurement error for people with neurodevelopmental disorders. In contrast, the person ability scores generated during the process of constructing a standardized test with item response theory are designed to assess change. We illustrate these limitations of norm-referenced scores, and relative advantages of ability scores, using data from studies of autism spectrum disorder and creatine transporter deficiency.

What's in a name? A preliminary event-related potential study of response to name in preschool children with and without autism spectrum disorder.

The ability to selectively respond to one's own name is important for social and language development, and is disrupted in atypically developing populations (e.g., autism spectrum disorder). Research with typically developing samples using event-related potentials (ERPs) has demonstrated that the subject's own name (SON) is differentiated from other stimuli at both early sensory and later cognitive stages of auditory processing. While neural indices of response to name have been researched extensively in adults, no such studies have been conducted with typically developing preschool children or children with autism spectrum disorder (ASD). The present study investigated ERP response to name in a sample of typically developing (TD) preschoolers (n = 19; mean age = 4.3 years) as well as a small, exploratory comparison group of preschoolers with ASD (n = 13; mean age = 4.4 years). TD preschoolers exhibited significantly greater negativity to SON over frontal regions than to an unfamiliar nonsense name, consistent with the adult SON negativity component. This component was present whether the name was spoken by a parent or an unfamiliar adult, suggesting that it reflects SON-specific processing rather than broad self-relevant information processing. Comparing preschoolers with ASD to the TD children revealed a significant SON negativity component across both groups. The amplitude of the SON negativity response was significantly correlated with social variables in the ASD group, though these correlations did not survive correction for multiple comparisons. This study is the first to demonstrate the presence of the SON component in preschool children with and without ASD.