Introduction Neurofibromatosis 1 (NF1) is a single-gene disorder associated with cognitive impairments, particularly with deficits in working memory. Prior research indicates that brain structure is affected in NF1, but it is unclear how these changes relate to aspects of cognition. Methods 29 adolescents aged 11-17 years were compared to age and sex-matched controls. NF1 subjects were assessed using detailed multimodal measurements of working memory at baseline followed by a 3T MR scan. A voxel-based morphometry approach was used to estimate the total and regional gray matter(GM) volumetric differences between the NF1 and control groups. The working memory metrics were subjected to a principal component analysis (PCA) approach. Results The NF1 groups showed increased gray matter volumes in the thalamus, corpus striatum, dorsal midbrain and cerebellum bilaterally in the NF1 group as compared to controls. Principal component analysis on the working memory metrics in the NF1 group yielded three independent factors reflecting high memory load, low memory load and auditory working memory. Correlation analyses revealed that increased volume of posterior cingulate cortex, a key component of the default mode network (DMN) was significantly associated with poorer performance on low working memory load tasks. Conclusion These results are consistent with prior work showing larger subcortical brain volumes in the NF1 cohort. The strong association between posterior cingulate cortex volume and performance on low memory load conditions supports hypotheses of deficient DMN structural development, which in turn may contribute to the cognitive impairments in NF1.

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Objective The model for the Extension for Community Healthcare Outcomes (Project ECHO®) was used to extend specialist support to the pediatric medical home for the treatment of adolescent depression by taking a comprehensive, disease-specific approach. Methods Child and adolescent psychiatrists constructed a course to train community pediatric primary care providers (PCPs) to screen patients for depression, initiate evidence-based interventions, and provide ongoing management. Participants were assessed for changes in clinical knowledge and self-efficacy. Secondary measures included self-reported practice change and emergency department (ED) mental health referrals 12 months pre- and post-course completion. Results Sixteen out of 18 participants in cohort 1 and 21 out of 23 participants in cohort 2 completed the pre- and post-assessments. Clinical knowledge and self-efficacy showed statistically significant improvement pre- and post-course completion. ED mental health referrals from participant PCPs decreased by 34% (cohort 1) and 17% (cohort 2) after course completion. Conclusions These findings indicate that utilizing the Project ECHO format to provide subspecialist support and education on the treatment of depression can improve pediatric PCPs’ clinical knowledge and confidence in their ability to independently treat depression. Secondary measures suggest that this can translate into practice change and improved treatment access with decreased ED referrals for mental health assessments by participant PCPs. Future directions include more robust outcomes measurement and developing more courses with an in-depth approach to a single or similar cluster of mental health diagnoses such as anxiety disorders.

Background: Neurofibromatosis 1 (NF1) is a single-gene neurodevelopmental disorder associated with cognitive and behavioural impairments, particularly with deficits in working memory. This study investigates the cerebral volumetric differences in adolescents with NF1 as compared to typically developing controls and how working memory task performance is associated with these differences. Methods: 31 adolescents aged 11-17 years were compared to age and sex-matched controls. NF1 subjects were assessed using detailed multimodal measurement of working memory at baseline followed by a 3T MR scan. A voxel-based morphometry approach was used to estimate the total and regional gray matter(GM) volumetric differences between the NF1 and control groups. The working memory metrics were subjected to a principal component analysis (PCA) approach. Finally, we examined how the components derived from PCA correlated with the changes in GM volume in the NF1 group, after adjusting for age, sex and total intracranial volume. Results: The NF1 cohort showed increased GM volumes in the thalamus, globus pallidus, caudate, putamen, dorsal midbrain and cerebellum bilaterally as compared to controls. The PCA yielded three independent behavioural components reflecting high memory load, low memory load and auditory working memory. Correlation analyses revealed that increased volume of the inferior lateral parietal cortex was associated with poorer performance on the high working memory load tasks. Increased volume of posterior cingulate cortex, a key component of the default mode network (DMN) was significantly associated with poorer performance on low working memory load tasks. Discussion: This is the first study to examine the neuroanatomical correlates of working memory in NF1 adolescents. Consistent with prior literature we show larger subcortical brain volumes in in the NF1 cohort. The strong association between posterior cingulate cortex volume and performance on low memory load conditions supports previously suggested hypotheses of deficient DMN structural development, which in turn may contribute to the cognitive impairments in NF1.