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Loitfelder, M; Huijbregts, SC; Veer, IM; Swaab, HS; Van Buchem, MA; Schmidt, R; Rombouts, SA.
Functional Connectivity Changes and Executive and Social Problems in Neurofibromatosis Type I.
Brain Connect. 2015; 5(5):312-320 Doi: 10.1089/brain.2014.0334 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG


Führende Autor*innen der Med Uni Graz
Koini Marisa
Co-Autor*innen der Med Uni Graz
Schmidt Reinhold

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Neurofibromatosis type 1 (NF1) has regularly been associated with cognitive, social, and behavioral problems. The fact that many different cognitive and behavioral impairments have been observed in NF1 suggests that networks of brain regions are involved rather than specific brain regions. Here, we examined whether functional connectivity was different in NF1 and, if so, whether associations were present with cognitive, social, and behavioral outcomes. Fourteen NF1 patients (8 male, age: M=12.49, SD=2.65) and 30 healthy controls (HC; 23 male, age: M=12.30, SD=2.94; p=0.835) were included. Functional connectivity was assessed using functional resting-state scanning. We analyzed brain regions that have been associated with cognitive and social functions: the bilateral ventral anterior cingulate cortex (vACC), the bilateral amygdala, the bilateral orbitofrontal cortex (OFC), and the posterior cingulate cortex (PCC). For NF1 patients, connection strengths between brain regions showing HC-NF1 differences were correlated with parent reports of cognitive, social, and behavioral functioning. Compared to HC, patients showed differences in functional connectivity between the left vACC and the frontal cortex, insula, and subcortical areas (caudate, putamen), between the left amygdala and the frontal cortex, insula, supramarginal gyrus, and PCC/precuneus, and between the left OFC and frontal and subcortical areas (caudate, pallidum). In patients, indications were found for associations between increased frontofrontal and temporofrontal functional connectivity with cognitive, social, and behavioral deficits (r-range=0.536-0.851). NF1 patients showed differences in functional connectivity between areas associated with cognitive and social functioning when compared to controls. This, plus the fact that connectivity strengths in these networks were associated with worse cognitive, social, and behavioral outcomes, suggests a neuropathological basis for the widespread deficits observed in NF1.
Find related publications in this database (using NLM MeSH Indexing)
Adolescent -
Brain Mapping -
Child -
Cognition Disorders - etiology
Executive Function - physiology
Female -
Humans -
Imaging, Three-Dimensional -
Magnetic Resonance Imaging -
Male -
Neural Pathways - blood supply
Neural Pathways - pathology
Neurofibromatosis 1 - complications
Neurofibromatosis 1 - pathology
Neuropsychological Tests -
Oxygen - blood
Rest -
Social Behavior Disorders - etiology
Statistics as Topic -
Surveys and Questionnaires -

Find related publications in this database (Keywords)
behavioral problems
executive dysfunction
functional connectivity
neurofibromatosis type 1
resting-state social problems
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