Journal article
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, S Huson, E Legius, KN North, JM Payne, E Plasschaert, TW Frazier, LA Weiss, Y Zhang, DH Gutmann, JN Constantino
JAMA Psychiatry | AMER MEDICAL ASSOC | Published : 2016
Abstract
IMPORTANCE Recent reports have demonstrated a higher incidence of autism spectrum disorder (ASD) and substantially elevated autistic trait burden in individuals with neurofibromatosis type 1 (NF1). However, important discrepancies regarding the distribution of autistic traits, sex predominance, and association between ASD symptoms and attentional problems have emerged, and critical features of the ASD phenotype within NF1 have never been adequately explored. Establishing NF1 as a monogenic cause for ASD has important implications for affected patients and for future research focused on establishing convergent pathogenic mechanisms relevant to the potential treatment targets for ASD. OBJECTIV..
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Awarded by NIH Office of the Director
Funding Acknowledgements
This work was supported by the Eunice Kennedy Shriver National Institute of Child Health & Human Development of the National Institutes of Health (NIH) under Award U54 HD087011 to the Intellectual and Developmental Disabilities Research Center at Washington University (Dr Constantino), Schnuck Markets, Inc, the Neurological Sciences Academic Development Award at Washington University School of Medicine under Award K12 NS001690 (Dr Morris), the NIH New Innovator under Award 1DP2OD007449 (Dr Weiss), the Opening the Future grant of Katholieke Universiteit Leuven (Dr Legius), the Manchester Biomedical Research Center Clinical Research Fellowship (Drs Garg and Green), and the Central Manchester Foundation Trust Research and Innovation Award (Drs Green and Huson).