An executive functioning perspective in neurofibromatosis type 1: from ADHD and autism spectrum disorder to research dom
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ANNUAL ISSUE PAPER
An executive functioning perspective in neurofibromatosis type 1: from ADHD and autism spectrum disorder to research domains Taylor F. Smith 1 & Jessica A. Kaczorowski 1 & Maria T. Acosta 2,3 Received: 10 May 2020 / Accepted: 11 June 2020 # This is a U.S. government work and not under copyright protection in the U.S.; foreign copyright protection may apply 2020
Abstract Purpose Neurofibromatosis type 1 (NF1) is a rare monogenic disorder associated with executive function (EF) deficits and heightened risk for attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). The goal of this paper is to understand how EFs provide a common foundation to understand vulnerabilities for ADHD and ASD within NF1. Methods A literature review and synthesis was conducted. Results EF difficulties in working memory, inhibitory control, cognitive flexibility, and planning are evident in NF1, ADHD, and ASD. However, relatively little is known about the heterogeneity of EFs and ADHD and ASD outcomes in NF1. Assessment of ADHD and ASD in NF1 is based on behavioral symptoms without understanding neurobiological contributions. Recent efforts are promoting the use of dimensional and multidisciplinary methods to better understand normal and abnormal behavior, including integrating information from genetics to self-report measures. Conclusion NF1 is a monogenic disease with well-developed molecular and phenotypic research as well as complementary animal models. NF1 presents an excellent opportunity to advance our understanding of the neurobiological impact of known pathogenic variation in normal and abnormal neural pathways implicated in human psychopathology. EFs are core features of NF1, ADHD, and ASD, and these neurodevelopmental outcomes are highly prevalent in NF1. We propose a multilevel approach for understanding EFs in patients with NF1.This is essential to advance targeted interventions for NF1 patients and to advance the exciting field of research in this condition. Keywords Neurofibromatosis 1 . Executive functions . Attention-deficit/hyperactivity disorder . Autism spectrum disorder
Introduction to neurofibromatosis 1 and related neurodevelopmental outcomes Neurofibromatosis 1 (or NF1) is a neurocutaneous disorder affecting 1 in 2700 live births [1]. Diagnostic criteria for NF1 include at least two of the following: 6 or more caféau-lait macules, two or more neurofibromas or one plexiform * Maria T. Acosta [email protected] 1
Department of Psychology and Child Development, California Polytechnic State University, San Luis Obispo, San Luis Obispo, CA, USA
2
Office of the Clinical Director and Medical Genetic Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
3
National Human Genome Research Institute, National Institutes of Health, Building 10, Room 3 I485 NE, Bethesda, MD 20892-3717, USA
neurofibroma, freckling in axillary region, optic glioma, multiple lisch nodules, distinctive osseous lesion, or a first-degree relative with NF
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