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Child's Nervous System

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01-10-2020 | Autism Spectrum Disorder | Annual issue paper

An executive functioning perspective in neurofibromatosis type 1: from ADHD and autism spectrum disorder to research domains

Authors: Taylor F. Smith, Jessica A. Kaczorowski, Maria T. Acosta

Published in: Child's Nervous System | Issue 10/2020

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.

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Title: An executive functioning perspective in neurofibromatosis type 1: from ADHD and autism spectrum disorder to research domains
Authors: Taylor F. Smith
Jessica A. Kaczorowski
Maria T. Acosta
Publication date: 01-10-2020
Publisher: Springer Berlin Heidelberg
Keywords: Autism Spectrum Disorder
Neurofibromatosis
Neurofibromatosis
Neurofibromatosis Type 1
Published in: Child's Nervous System / Issue 10/2020
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI: https://doi.org/10.1007/s00381-020-04745-w

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

An executive functioning perspective in neurofibromatosis type 1: from ADHD and autism spectrum disorder to research domains

Abstract

Purpose

Methods

Results

Conclusion

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusion

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