title: Both maternal and pup genotype influence ultrasonic vocalizations and early developmental milestones in tsc2 (+/-) mice.
abstract: 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.
authors.affiliation: 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.
authors.forename: Emily A
authors.initials: EA
authors.lastname: Greene-Colozzi
authors.affiliation: 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.
authors.forename: Abbey R
authors.initials: AR
authors.lastname: Sadowski
authors.affiliation: 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.
authors.forename: Elyza
authors.initials: E
authors.lastname: Chadwick
authors.affiliation: 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.
authors.forename: Peter T
authors.initials: PT
authors.lastname: Tsai
authors.affiliation: 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.
authors.forename: Mustafa
authors.initials: M
authors.lastname: Sahin