Neurofibromatosis type 1

DH Gutmann, RE Ferner, RH Listernick… - Nature Reviews …, 2017 - nature.com
Neurofibromatosis type 1 is a complex autosomal dominant disorder caused by germline
mutations in the NF1 tumour suppressor gene. Nearly all individuals with neurofibromatosis …

Epidemiological surveys of ASD: advances and remaining challenges

E Fombonne, H MacFarlane, AC Salem - Journal of autism and …, 2021 - Springer
Recent worldwide epidemiological surveys of autism conducted in 37 countries are
reviewed; the median prevalence of autism is. 97% in 26 high-income countries …

Health supervision for children with neurofibromatosis type 1

DT Miller, D Freedenberg, E Schorry, NJ Ullrich… - …, 2019 - publications.aap.org
Neuroibromatosis type 1 (NF1) is a multisystem disorder that primarily involves the skin and
peripheral nervous system. Its population prevalence is approximately 1 in 3000. The …

[HTML][HTML] Neurofibromatosis 1

JM Friedman - 2022 - europepmc.org
Neurofibromatosis 1 (NF1) is a multisystem disorder characterized by multiple café au lait
macules, intertriginous freckling, multiple cutaneous neurofibromas, and learning disability …

Neurofibromatosis type 1

PJ Cimino, DH Gutmann - Handbook of clinical neurology, 2018 - Elsevier
The neurofibromatoses are a group of three heterogeneous disorders that include
neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis. NF1 …

Annual research review: the state of autism intervention science: progress, target psychological and biological mechanisms and future prospects

J Green, S Garg - Journal of Child Psychology and Psychiatry, 2018 - Wiley Online Library
Background There has been recent systematic review of key evidence in psychosocial
intervention in autism but little review of biological treatments. Methods We analyse the …

An update on the central nervous system manifestations of neurofibromatosis type 1

JS Nix, J Blakeley, FJ Rodriguez - Acta neuropathologica, 2020 - Springer
Abstract Neurofibromatosis 1 (NF1) is an autosomal dominant genetic disorder that presents
with variable phenotypes as a result of mutations in the neurofibromatosis type 1 (NF1) gene …

Cognitive and behavioral disorders in children with neurofibromatosis type 1

MM Torres Nupan, A Velez Van Meerbeke… - Frontiers in …, 2017 - frontiersin.org
Aim The last systematic review of research on the behavior of children with
neurofibromatosis type 1 (NF1) was in 2012. Since then, several important findings have …

Annual Research Review: Anterior Modifiers in the Emergence of Neurodevelopmental Disorders (AMEND)—a systems neuroscience approach to common …

MH Johnson, T Charman, A Pickles… - Journal of Child …, 2021 - Wiley Online Library
We present the Anterior Modifiers in the Emergence of Neurodevelopmental Disorders
(AMEND) framework, designed to reframe the field of prospective studies of …

Disease burden and symptom structure of autism in neurofibromatosis type 1: a study of the International NF1-ASD Consortium Team (INFACT)

SM Morris, MT Acosta, S Garg, J Green… - JAMA …, 2016 - jamanetwork.com
Importance Recent reports have demonstrated a higher incidence of autism spectrum
disorder (ASD) and substantially elevated autistic trait burden in individuals with …