Functional connectivity in tuberous sclerosis complex with autistic spectrum disorder preliminary findings

Article type: Research Article

Authors: Rezaie, Roozbeh^; | Zouridakis, George | Choudhri, Asim F.^{; ;} | Wheless, James W.^{; ;} | Völgyi, Eszter | Van Poppel, Katherine^{; ;} | Clanton, Nancy R. | Papanicolaou, Andrew C.^;

Affiliations: Department of Pediatrics, Division of Clinical Neurosciences, University of Tennessee Health Science Center, Memphis, TN, USA | Neuroscience Institute, Le Bonheur Children's Hospital, Memphis, TN, USA | Department of Engineering Technology, Computer Science, and Electrical and Computer Engineering, University of Houston, Houston, TX, USA | Department of Radiology, University of Tennessee Health Science Center, Memphis, TN, USA | Department of Neurosurgery, University of Tennessee Health Science Center, Memphis, TN, USA | Department of Pediatric Neurology, University of Tennessee Health Science Center, Memphis, TN, USA | Tuberous Sclerosis Complex Clinic, Affiliated with the National Tuberous Sclerosis Alliance, Silver Spring, MD, USA | Department of Preventive Medicine, University of Tennessee Health Science Center, Memphis, TN, USA

Note: [] Correspondence: Dr. Roozbeh Rezaie, Department of Pediatrics, Division of Clinical Neurosciences, University of Tennessee Health Science Center, Memphis, TN 38105, USA. Tel.: +1 901 287 4610; Fax: +1 901 287 5325; E-mail: rrezaie@uthsc.edu

Abstract: Despite the frequent occurrence of autism spectrum disorder (ASD) in tuberous sclerosis complex (TSC), the neurophysiological factors that distinguish children with TSC from children with TSC presenting with ASD symptoms remain unspecified. Growing evidence suggests that ASD may be characterized by atypical structural and functional connectivity between specific cortical regions. In this exploratory study, we utilized magnetoencephalography to derive resting brain connectivity patterns, in an attempt to identify neurophysiological markers that may differentiate TSC children with ASD (n=2) from TSC children without ASD (n=2) and typically developing children (n=2). Connectivity pattern analysis revealed that TSC children presenting with ASD symptoms can be distinguished from TSC and typically developing children by the presence of long-range, medial, anterior-posterior connections previously observed in adolescents with ASD. While preliminary in nature, our findings support the notion that altered functional connectivity may be a constituent characteristic of ASD and may enable prediction of which TSC children are likely to develop ASD and facilitate early behavioral and medical intervention.

Keywords: Tuberous sclerosis complex, autism spectrum disorder, magnetoencephalography, functional connectivity

DOI: 10.3233/JPN-130599

Journal: Journal of Pediatric Neurology, vol. 11, no. 2, pp. 79-82, 2013