Children with neurofibromatosis type 1 (NF1) are prone to the development of cognitive and behavioral problems. In addition, 15-30% of individuals with NF1 show signs of autism spectrum disorder (ASD). In order to better understand ASD in NF1, researchers at the Washington University Neurofibromatosis (NF) Center assessed early communicative behaviors in two different Nf1 mouse models.
Dr. Susan E. Maloney, a scientist in the laboratory of Dr. Joseph D. Dougherty, examined the high-frequency sounds used by very young mouse pups to communicate with their mothers. Working with Drs. Corina Anastasaki and David Gutmann, she demonstrated that Nf1 mutant mice had abnormalities in the frequency and pitch of their ultrasonic vocalizations. In addition, she found that the levels of a brain neurotransmitter, called serotonin, were increased in these mice.
Future work will focus on using these models to define the cellular and molecular basis underlying this social impairment in NF1, as well as to evaluate treatments most likely to improve this behavioral deficit in mice.
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Maloney SE, Chandler KC, Anastasaki C, Rieger MA, Gutmann DH, Dougherty JD. Characterization of early communicative behavior in mouse models of Neurofibromatosis type 1. Autism Research. 2017 Aug 26. doi: 10.1002/aur.1853. [Epub ahead of print].