Refining translational treatment development in fragile X syndrome: Lessons learned and future directions

Refining translational treatment development in fragile X syndrome: Lessons learned and future directions

Fragile X research has been very productive since the underlying genetic cause of the disease was discovered, with many studies reporting novel treatments that address neuroanatomical, electrophysiological, and behavioral features in mouse models. However, translating this to humans has proved difficult. Journal of Neurodevelopmental Disorders is proud to publish this thematic series, which examines the research to date and suggests ways to overcome some of the challenges facing Fragile X research.

This series was edited by Professor Craig Erickson (Cincinnati Children's Hospital Medical Center).

1. CONTENT TYPE:RESEARCH

   Differential effects of anxiety and autism on social scene scanning in males with fragile X syndrome

   Existing literature draws links between social attention and socio-behavioural profiles in neurodevelopmental disorders. Fragile X syndrome (FXS) is associated with a known socio-behavioural phenotype of socia...

   Authors:Hayley Crawford, Joanna Moss, Chris Oliver and Deborah Riby

   Citation:Journal of Neurodevelopmental Disorders 2017 9:9

   Published on: 25 September 2017

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2. CONTENT TYPE:RESEARCH

   Arbaclofen in fragile X syndrome: results of phase 3 trials

   Arbaclofen improved multiple abnormal phenotypes in animal models of fragile X syndrome (FXS) and showed promising results in a phase 2 clinical study. The objective of the study is to determine safety and eff...

   Authors:Elizabeth Berry-Kravis, Randi Hagerman, Jeannie Visootsak, Dejan Budimirovic, Walter E. Kaufmann, Maryann Cherubini, Peter Zarevics, Karen Walton-Bowen, Paul Wang, Mark F. Bear and Randall L. Carpenter

   Citation:Journal of Neurodevelopmental Disorders 2017 9:3

   Published on: 12 June 2017

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3. CONTENT TYPE:RESEARCH

   Acamprosate in a mouse model of fragile X syndrome: modulation of spontaneous cortical activity, ERK1/2 activation, locomotor behavior, and anxiety

   Fragile X Syndrome (FXS) occurs as a result of a silenced fragile X mental retardation 1 gene (FMR1) and subsequent loss of fragile X mental retardation protein (FMRP) expression. Loss of FMRP alters excitatory/i...

   Authors:Tori L. Schaefer, Matthew H. Davenport, Lindsay M. Grainger, Chandler K. Robinson, Anthony T. Earnheart, Melinda S. Stegman, Anna L. Lang, Amy A. Ashworth, Gemma Molinaro, Kimberly M. Huber and Craig A. Erickson

   Citation:Journal of Neurodevelopmental Disorders 2017 9:6

   Published on: 12 June 2017

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4. CONTENT TYPE:REVIEW

   Updated report on tools to measure outcomes of clinical trials in fragile X syndrome

   Fragile X syndrome (FXS) has been the neurodevelopmental disorder with the most active translation of preclinical breakthroughs into clinical trials. This process has led to a critical assessment of outcome me...

   Authors:Dejan B. Budimirovic, Elizabeth Berry-Kravis, Craig A. Erickson, Scott S. Hall, David Hessl, Allan L. Reiss, Margaret K. King, Leonard Abbeduto and Walter E. Kaufmann

   Citation:Journal of Neurodevelopmental Disorders 2017 9:14

   Published on: 12 June 2017

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5. CONTENT TYPE:REVIEW

   Fragile X targeted pharmacotherapy: lessons learned and future directions

   Our understanding of fragile X syndrome (FXS) pathophysiology continues to improve and numerous potential drug targets have been identified. Yet, current prescribing practices are only symptom-based in order t...

   Authors:Craig A. Erickson, Matthew H. Davenport, Tori L. Schaefer, Logan K. Wink, Ernest V. Pedapati, John A. Sweeney, Sarah E. Fitzpatrick, W. Ted Brown, Dejan Budimirovic, Randi J. Hagerman, David Hessl, Walter E. Kaufmann and Elizabeth Berry-Kravis

   Citation:Journal of Neurodevelopmental Disorders 2017 9:7

   Published on: 12 June 2017

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6. CONTENT TYPE:RESEARCH

   A resting EEG study of neocortical hyperexcitability and altered functional connectivity in fragile X syndrome

   Cortical hyperexcitability due to abnormal fast-spiking inhibitory interneuron function has been documented in fmr1 KO mice, a mouse model of the fragile X syndrome which is the most common single gene cause of a...

   Authors:Jun Wang, Lauren E. Ethridge, Matthew W. Mosconi, Stormi P. White, Devin K. Binder, Ernest V. Pedapati, Craig A. Erickson, Matthew J. Byerly and John A. Sweeney

   Citation:Journal of Neurodevelopmental Disorders 2017 9:11

   Published on: 14 March 2017

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7. CONTENT TYPE:RESEARCH

   Preserved search asymmetry in the detection of fearful faces among neutral faces in individuals with Williams syndrome revealed by measurement of both manual responses and eye tracking

   Individuals with Williams syndrome (WS) exhibit an atypical social phenotype termed hypersociability. One theory accounting for hypersociability presumes an atypical function of the amygdala, which processes f...

   Authors:Masahiro Hirai, Yukako Muramatsu, Seiji Mizuno, Naoko Kurahashi, Hirokazu Kurahashi and Miho Nakamura

   Citation:Journal of Neurodevelopmental Disorders 2017 9:8

   Published on: 3 March 2017

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