Autism and attention-deficit/hyperactivity disorders and symptoms in children with neurofibromatosis type 1.

AIM: To evaluate if autism symptoms and diagnoses are more common in children with neurofibromatosis type 1 (NF1) than in typically developing children, to which levels, and to determine if co-occurring attention-deficit/hyperactivity disorder (ADHD) symptomatology accounts for this increase. METHOD: We searched hospital electronic medical records (EMR) for International Classification of Diseases, 10th Revision NF1 and co-occurring diagnoses codes. We recruited a subsample of 45 children (mean age 9y 2mo; SD 2y 7mo; range 5-12y; 22 males, 23 females) and collected parental reports of autism symptomatology, adaptive behavior, and behavioral problems that were compared to those of 360 age- and sex-matched controls from the Simons Simplex Collection (SSC) with autism spectrum disorder (ASD; SSC-ASD) or typically developing (SSC-TD). RESULTS: The EMR search identified 968 children with NF1; 8.8% had ADHD and 2.1% had ASD co-occurring diagnoses. In the subsample, the mean autism scale score for participants with NF1 was below cut-off for significant autism symptoms. Participants with NF1 had significantly more autism and behavioral symptoms than SSC-TD participants, and significantly less than SSC-ASD participants, with one exception: ADHD symptom levels were similar to those of SSC-ASD participants. In analyses that controlled for internalizing, ADHD, and communication scores, the difference in autism symptom levels between participants with NF1 and typically developing controls disappeared almost entirely. INTERPRETATION: Our results do not support an association between NF1 and autism, both at the symptom and disorder levels. WHAT THIS PAPER ADDS: Diagnoses of attention-deficit/hyperactivity disorder (ADHD) were more common in children with neurofibromatosis type 1 (NF1) than in the general child population. Diagnoses of autism spectrum disorder were no more common in children with NF1 than in the general child population. Increases in autism symptoms did not reach clinically significant thresholds. Co-occurring ADHD symptoms accounted for increased autism questionnaire scores. Adaptive behavior in participants with NF1 showed normal socialization but lower communication proficiency.

A Systematic Review of External Validity in Pediatric Integrated Primary Care Trials.

OBJECTIVE: We used the RE-AIM (Reach, Effectiveness, Adoption, Implementation, and Maintenance) framework to conduct a systematic review of external validity reporting in integrated primary care (IPC) interventions for mental health concerns. METHODS: We searched Medline, CINAHL, PsycINFO, the Cochrane Center Register of Controlled Trials, and relevant literature to identify publications from 1998 to 2018 reporting on open, randomized, or quasi-randomized trials of IPC interventions that targeted child (ages 0-18 years) psychological symptoms. For each publication, we extracted the information reported in each RE-AIM domain and calculated the proportion of the total studies reviewed. RESULTS: Thirty-nine publications describing 25 studies were included in the review. Publications rarely reported some indicators of external validity, including the representativeness of participants (12%), rate of adoption clinics or providers (16%), cost of implementation (8%), or evidence of maintenance (16%). Few studies reported on key pragmatic factors such as cost or organizational change processes related to implementation and maintenance. Strengths of some studies included comparisons of multiple active treatments, use of tailorable interventions, and implementation in "real world" settings. CONCLUSIONS: Although IPC interventions appear efficacious under research conditions, there are significant knowledge gaps regarding the degree to which they reach and engage target recipients, what factors impact adoption and implementation of IPC interventions by clinicians, how fidelity can be maintained over time, and cost-effectiveness. Pediatric IPC researchers should embrace dissemination and implementation science methods to balance internal and external validity concerns moving forward.

Validation of Autism Diagnosis and Clinical Data in the SPARK Cohort.

The SPARK cohort was established to facilitate recruitment in studies of large numbers of participants with autism spectrum disorder (ASD). Online registration requires participants to have received a lifetime professional diagnosis by health or school providers although diagnoses are not independently verified. This study was set to examine the validity of self- and caregiver-reported autism diagnoses. Electronic medical records (EMR) of 254 SPARK participants (77.6% male, age 10.7 years) were abstracted. Using two different methods, confirmation of ASD diagnosis in EMRs was obtained in 98.8% of cases. Core clinical features recorded in EMRs were typical of autism samples and showed very good agreement with SPARK cohort data, providing further evidence of the validity of clinical information in the SPARK database.

Parents training parents: Lessons learned from a study of reciprocal imitation training in young children with autism spectrum disorder.

Parent-mediated interventions are cost-effective ways to increase access to appropriate treatment services to children with autism spectrum disorder. We aimed to engage parents working as partners within rural autism identification teams to facilitate prompt initiation of autism-specific treatment services and expand the amount of treatment available to young children with autism spectrum disorder. To do this, we sought to employ a two-phase training approach: (Phase 1) train parents to fidelity in an evidence-based parent-mediated intervention (reciprocal imitation training), and (Phase 2) evaluate the extent to which parents could effectively coach other parents of newly diagnosed children to implement reciprocal imitation training with their child. We experienced several unexpected barriers to completing all aspects of the Phase 1 training workflow. This led us to pivot toward a process evaluation. We used qualitative interviewing with our partner parents to systematically identify barriers and enhance the likelihood for successful future efforts at such an approach. The lessons we learned and recommendations for others attempting this type of research are presented.

Virtual environments as an assessment modality with pediatric ASD populations: a brief report.

Virtual environments (VEs) have demonstrated promise as a neuropsychological assessment modality and may be well suited for the evaluation of children suspected of having an autism spectrum disorder (ASD). Some recent studies indicate their potential for enhancing reliability, ecologically validity, and sensitivity over traditional neuropsychological evaluation measures. Although research using VEs with ASD is increasing to the degree that several reviews of the literature have been conducted, the reviews to date lack rigor and are not necessarily specific to cognitive or neuropsychological assessment as many focus on intervention. The aim of this project was to comprehensively examine the current literature status of neuropsychological assessment in pediatric ASD using VEs by conducting a systematic review. Specifically, psychometric comparisons of VEs to traditional neuropsychological assessment measures that examined reliability, validity, and/or diagnostic accuracy for pediatric individuals, age 18 and below, with ASD were sought. The search using key words yielded 899 manuscripts, 894 of which were discarded for not meeting inclusion criteria. The remaining five met exclusion criteria. Therefore, the systematic review was modified to a brief report. These findings (or lack thereof) indicate a significant gap in the literature in that psychometric comparisons of these tools for the neuropsychological assessment of pediatric individuals with ASD are lacking. An important future direction of research will be extending the demonstrated incremental validity of VE neuropsychological assessment with other neurodevelopmental (e.g., attention-deficit/hyperactivity disorder) and adult populations to pediatric ASD populations.