@article{e38556d404054b35a25cad47c5f4465c,
title = "Mechanisms underlying auditory processing deficits in Fragile X syndrome",
abstract = "Autism spectrum disorders (ASD) are strongly associated with auditory hypersensitivity or hyperacusis (difficulty tolerating sounds). Fragile X syndrome (FXS), the most common monogenetic cause of ASD, has emerged as a powerful gateway for exploring underlying mechanisms of hyperacusis and auditory dysfunction in ASD. This review discusses examples of disruption of the auditory pathways in FXS at molecular, synaptic, and circuit levels in animal models as well as in FXS individuals. These examples highlight the involvement of multiple mechanisms, from aberrant synaptic development and ion channel deregulation of auditory brainstem circuits, to impaired neuronal plasticity and network hyperexcitability in the auditory cortex. Though a relatively new area of research, recent discoveries have increased interest in auditory dysfunction and mechanisms underlying hyperacusis in this disorder. This rapidly growing body of data has yielded novel research directions addressing critical questions regarding the timing and possible outcomes of human therapies for auditory dysfunction in ASD.",
keywords = "Fragile X syndrome, auditory system, autism spectrum disorders, circuit development, hyperacusis, synaptic transmission",
author = "McCullagh, {Elizabeth A.} and Rotschafer, {Sarah E.} and Auerbach, {Benjamin D.} and Achim Klug and Kaczmarek, {Leonard K.} and Cramer, {Karina S.} and Kulesza, {Randy J.} and Razak, {Khaleel A.} and Lovelace, {Jonathan W.} and Yong Lu and Ursula Koch and Yuan Wang",
note = "Funding Information: We would like to acknowledge our funding sources: NIH NIDCD 3T32DC012280‐05S1, FRAXA (Elizabeth A. McCullagh); Deutsche Forschungsgemeinschaft SFB665 (Ursula Koch); NIH NIDCD R01DC01919 & NS102239, FRAXA (Leonard K. Kaczmarek); NIH NIDCD R01DC010796 (Karina Cramer); NIH NIDCD R01DC017924 (Achim Klug); NIH U54 HD082008, DOD PR140683, FRAXA (Jonathan Lovelace and Khaleel Razak); NIH NIDCD R01DC016054 (Yong Lu); NIH NIDCD R01DC13074 & R21DC17267, United States‐Israel Binational Science Foundation (Yuan Wang); NIH NIDCD F32DC015160‐01A1, SFARI (Benjamin D. Auerbach). Funding Information: We would like to acknowledge our funding sources: NIH NIDCD 3T32DC012280-05S1, FRAXA (Elizabeth A. McCullagh); Deutsche Forschungsgemeinschaft SFB665 (Ursula Koch); NIH NIDCD R01DC01919 & NS102239, FRAXA (Leonard K. Kaczmarek); NIH NIDCD R01DC010796 (Karina Cramer); NIH NIDCD R01DC017924 (Achim Klug); NIH U54 HD082008, DOD PR140683, FRAXA (Jonathan Lovelace and Khaleel Razak); NIH NIDCD R01DC016054 (Yong Lu); NIH NIDCD R01DC13074 & R21DC17267, United States-Israel Binational Science Foundation (Yuan Wang); NIH NIDCD F32DC015160-01A1, SFARI (Benjamin D. Auerbach). Publisher Copyright: {\textcopyright} 2020 Federation of American Societies for Experimental Biology",
year = "2020",
month = mar,
day = "1",
doi = "10.1096/fj.201902435R",
language = "English (US)",
volume = "34",
pages = "3501--3518",
journal = "FASEB Journal",
issn = "0892-6638",
publisher = "John Wiley & Sons, Ltd.",
number = "3",
}