Table of Contents
Epilepsy Research and Treatment
Volume 2014, Article ID 784137, 10 pages
Research Article

Both Maternal and Pup Genotype Influence Ultrasonic Vocalizations and Early Developmental Milestones in Tsc2+/− Mice

The F.M. Kirby Neurobiology Center, Translational Neuroscience Center, Department of Neurology, Children’s Hospital Boston, Harvard Medical School, 300 Longwood Avenue CLSB 14073, Boston, MA 02115, USA

Received 12 March 2014; Accepted 24 June 2014; Published 4 August 2014

Academic Editor: Heidrun Potschka

Copyright © 2014 Emily A. Greene-Colozzi et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by tumor growth and neuropsychological symptoms such as autistic behavior, developmental delay, and epilepsy. While research has shed light on the biochemical and genetic etiology of TSC, the pathogenesis of the neurologic and behavioral manifestations remains poorly understood. TSC patients have a greatly increased risk of developmental delay and autism spectrum disorder, rendering the relationship between the two sets of symptoms an extremely pertinent issue for clinicians. We have expanded on previous observations of aberrant vocalizations in Tsc2+/− mice by testing vocalization output and developmental milestones systematically during the early postnatal period. In this study, we have demonstrated that Tsc2 haploinsufficiency in either dams or their pups results in a pattern of developmental delay in sensorimotor milestones and ultrasonic vocalizations.