This study provides empirical support for the utility of population screening for ASD with the use of the M-CHAT in a primary care setting. Results suggest that the M-CHAT continues to be an effective screening instrument for ASD when the 2-step screening process is used. The M-CHAT is widely used at pediatric offices, and this study provides updated results to facilitate use and scoring of the M-CHAT by clinical providers.

This study investigated the childhood autism rating scale (CARS) as a tool for ASD diagnoses for 2-year-old (n = 376) and 4-year-old (n = 230) children referred for possible autism. The cut-off score to distinguish autistic disorder from PDD-NOS was 32 in the 2-year-old sample (consistent with Lord in J Child Psychol Psychiatry Allied Discipl, 36, 1365–1382, 1995), and 30 in the 4-year-old sample, with good sensitivity and specificity at both ages. The cut-off score to distinguish ASD from non-ASD at both ages was 25.5, with good sensitivity and specificity. Results confirm the utility of the CARS in distinguishing autistic disorder from PDD-NOS, and distinguishing ASD from other developmental disorders and typical development and suggest that an ASD cutoff around 25, which is in common clinical use, is valid.

Publicly funded mental health programs play a significant role in serving children with autism spectrum disorder. Understanding patterns of psychiatric comorbidity for this population within mental health settings is important to implement appropriately tailored interventions. This study (1) describes patterns of psychiatric comorbidity in children with autism spectrum disorder who present to mental health services with challenging behaviors and (2) identifies child characteristics associated with comorbid conditions. Data are drawn from baseline assessments from 201 children with autism spectrum disorder who participated in a community effectiveness trial across 29 publicly funded mental health programs. Non-autism spectrum disorder diagnoses were assessed using an adapted Mini-International Neuropsychiatric Interview, parent version. Approximately 92% of children met criteria for at least one non-autism spectrum disorder diagnosis (78% attention deficit hyperactivity disorder, 58% oppositional defiant disorder, 56% anxiety, 30% mood). Logistic regression indicated that child gender and clinical characteristics were differentially associated with meeting criteria for attention deficit hyperactivity disorder, oppositional defiant disorder, an anxiety, or a mood disorder. Exploratory analyses supported a link between challenging behaviors and mood disorder symptoms and revealed high prevalence of these symptoms in this autism spectrum disorder population. Findings provide direction for tailoring intervention to address a broad range of clinical issues for youth with autism spectrum disorder served in mental health settings.

Acquiring useful language by age 5 has been identified as a strong predictor of positive outcomes in individuals with ASD. This study examined the relationship between age of language acquisition and later functioning in children with ASD (n = 119). First word acquisition at a range of ages was probed for its relationship to cognitive ability and adaptive behaviors at 52 months. Results indicated that although producing first words predicted better outcome at every age examined, producing first words by 24 months was a particularly strong predictor of better outcomes. This finding suggests that the historic criterion for positive prognosis (i.e., “useful language by age 5”) can be updated to a more specific criterion with an earlier developmental time point.

This study characterized the use of research community partnerships (RCPs) to tailor evidence-based intervention, training, and implementation models for delivery across different childhood problems and service contexts using a survey completed by project principal investigators and community partners. To build on previous RCP research and to explicate the tacit knowledge gained through collaborative efforts, the following were examined: (1) characteristics of studies using RCP models; (2) RCP functioning, processes, and products; (3) processes of tailoring evidence-based practices (EBPs) for community implementation ; and (4) perceptions of the benefits and challenges of collaborating with community providers and consumers. Results indicated that researchers were solely or jointly involved in the formation of almost all of the RCPs; interpersonal and operational processes were perceived as primary challenges; community partners’ roles included greater involvement in implementation and participant recruitment than more traditional research activities; and the partnership process was perceived to increase the relevance and “fit” of interventions and research.

BackgroundXYY syndrome is a sex chromosome aneuploidy that occurs in ~ 1/850 male births and is associated with increased risk for neurodevelopmental difficulties. However, the profile of neurodevelopmental impairments, including symptoms of autism spectrum disorder (ASD) in XYY remains poorly understood. This gap in knowledge has persisted in part due to lack of access to patient cohorts with dense and homogeneous phenotypic data.MethodsWe evaluated a single-center cohort of 64 individuals with XYY aged 5–25 years, using a standardized battery of cognitive and behavioral assessments spanning developmental milestones, IQ, adaptive behavior, academic achievement, behavioral problems, and gold-standard diagnostic instruments for ASD. Our goals were to (i) detail the neurodevelopmental profile of XYY with a focus on ASD diagnostic rates and symptom profiles, (ii) screen phenotypes for potential ascertainment bias effects by contrasting pre- vs. postnatally diagnosed XYY subgroups, and (iii) define major modules of phenotypic variation using graph-theoretical analysis.ResultsAlthough there was marked inter-individual variability, the average profile was characterized by some degree of developmental delay, and decreased IQ and adaptive behavior. Impairments were most pronounced for language and socio-communicative functioning. The rate of ASD was 14%, and these individuals exhibited autism symptom profiles resembling those observed in ASD without XYY. Most neurodevelopmental dimensions showed milder impairment among pre- vs. postnatally diagnosed individuals, with clinically meaningful differences in verbal IQ. Feature network analysis revealed three reliably separable modules comprising (i) cognition and academic achievement, (ii) broad domain psychopathology and adaptive behavior, and (iii) ASD-related features.ConclusionsBy adding granularity to our understanding of neurodevelopmental difficulties in XYY, these findings assist targeted clinical assessment of newly identified cases, motivate greater provision of specialized multidisciplinary support, and inform future efforts to integrate behavioral phenotypes in XYY with neurobiology.Trial registrationsClinicalTrials.gov NCT00001246, “89-M-0006: Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Controls.”

Purpose To conduct a proof-of-principle study to identify subtypes of propionic acidemia (PA) and associated biomarkers. Methods Data from a clinically diverse PA patient population (https://clinicaltrials.gov/ct2/show/NCT02890342) were used to train and test machine learning models, identify PA-relevant biomarkers, and perform validation analysis using data from liver-transplanted participants. k-Means clustering was used to test for the existence of PA subtypes. Expert knowledge was used to define PA subtypes (mild and severe). Given expert classification, supervised machine learning (support vector machine with a polynomial kernel, svmPoly) performed dimensional reduction to define relevant features of each PA subtype. Results Forty participants enrolled in the study; five underwent liver transplant. Analysis with k-means clustering indicated that several PA subtypes may exist on the biochemical continuum. The conventional PA biomarkers, plasma total 2-methylctirate and propionylcarnitine, were not statistically significantly different between nontransplanted and transplanted participants motivating us to search for other biomarkers. Unbiased dimensional reduction using svmPoly revealed that plasma transthyretin, alanine:serine ratio, GDF15, FGF21, and in vivo 1-13C-propionate oxidation, play roles in defining PA subtypes. Conclusion Support vector machine prioritized biomarkers that helped classify propionic acidemia patients according to severity subtypes, with important ramifications for future clinical trials and management of PA.

IMPORTANCE Publicly funded mental health services play an important role in addressing co-occurring mental health problems in children with autism spectrum disorder (ASD); however, therapists report lacking training to effectively serve this complex population. OBJECTIVE To test the effectiveness of training community therapists in An Individualized Mental Health Intervention for ASD (AIM HI) on challenging behaviors across 18 months among children with ASD and identify moderators and mediators of any intervention effects. DESIGN, SETTING, AND PARTICIPANTS Cluster randomized trial conducted in 29 publicly funded outpatient and school-based mental health programs in southern California from 2012 to 2017. Programs were randomized to receive immediate AIM HI training or provide usual care followed by receipt of AIM HI training. Therapist participants were recruited from enrolled programs, and child participants were recruited from participant therapists' caseloads. Data were analyzed from 202 children with ASD who were aged 5 to 13 years. INTERVENTIONS The AIM HI protocol is a package of parent-mediated and child-focused strategies aimed to reduce challenging behaviors in children with ASD who are 5 to 13 years old. It was designed for delivery in publicly funded mental health services based on a systematic assessment of therapist training needs and child clinical needs. The therapist training and consultation process takes approximately 6 months and includes an introductory workshop, 11 structured consultation meetings as the therapist delivers AIM HI with a current client, and case-specific performance feedback from trainers. MAIN OUTCOMES AND MEASURES Child participants were assessed for challenging behaviors using the Eyberg Child Behavior Inventory (ECBI) and Social Skills Improvement System (SSIS) Competing Problem Behaviors scales based on parent report at baseline and at 6-month intervals for 18 months. Outcomes were analyzed using intent-to-treat models. RESULTS In total, 202 children with ASD (mean [SD] age, 9.1 [2.4] years; 170 [84.2%] male; 121 [59.9%] Latinx) were eligible, enrolled, and included in the analyses. Statistically significant group by time interactions for the ECBI Intensity (B = −0.38; P = .02) and ECBI Problem (B = −1.00; P = .005) scales were observed, with significantly larger decreases in ECBI Intensity scores in the AIM HI group (B = −1.36; P < .001) relative to the usual care group (B = −0.98; P < .001) and a significantly larger decrease in ECBI Problem scores in the AIM HI group (B = −1.22; P < .001) relative to the usual care group (B = −0.20; P = .29). Therapist fidelity moderated these intervention effects. CONCLUSIONS AND RELEVANCE The present findings support the effectiveness of training therapists to deliver the AIM HI model to children with ASD receiving publicly funded mental health services.