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  2. Research

    A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome

    Gamma-aminobutyric acid (GABA) system deficits are integral to the pathophysiologic development of fragile X syndrome (FXS). Ganaxolone, a GABAA receptor positive allosteric modulator, is hypothesized to improve ...

    Andrew Ligsay, Anke Van Dijck, Danh V. Nguyen, Reymundo Lozano, Yanjun Chen, Erika S. Bickel, David Hessl, Andrea Schneider, Kathleen Angkustsiri, Flora Tassone, Berten Ceulemans, R. Frank Kooy and Randi J. Hagerman

    Journal of Neurodevelopmental Disorders 2017 9:26

    Published on: 2 August 2017

  3. Review

    Social brain circuitry and social cognition in infants born preterm

    Preterm birth is associated with an increased risk of adverse neurologic, psychiatric, and cognitive outcomes. The brain circuits involved in processing social information are critical to all of these domains,...

    Angela Fenoglio, Michael K. Georgieff and Jed T. Elison

    Journal of Neurodevelopmental Disorders 2017 9:27

    Published on: 19 July 2017

  7. Research

    The role of nonverbal working memory in morphosyntactic processing by children with specific language impairment and autism spectrum disorders

    Both children with autism spectrum disorders (ASD) and children with specific language impairment (SLI) have been shown to have difficulties with grammatical processing. A comparison of these two populations w...

    Susan Ellis Weismer, Meghan M. Davidson, Ishanti Gangopadhyay, Heidi Sindberg, Hettie Roebuck and Margarita Kaushanskaya

    Journal of Neurodevelopmental Disorders 2017 9:28

    Published on: 4 July 2017

  9. Research

    Neural patterns elicited by sentence processing uniquely characterize typical development, SLI recovery, and SLI persistence

    A substantial amount of work has examined language abilities in young children with specific language impairment (SLI); however, our understanding of the developmental trajectory of language impairment is limi...

    Eileen Haebig, Christine Weber, Laurence B. Leonard, Patricia Deevy and J. Bruce Tomblin

    Journal of Neurodevelopmental Disorders 2017 9:22

    Published on: 14 June 2017

  10. 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...

    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

    Journal of Neurodevelopmental Disorders 2017 9:3

    Published on: 12 June 2017

  11. 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...

    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

    Journal of Neurodevelopmental Disorders 2017 9:6

    Published on: 12 June 2017

  12. 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...

    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

    Journal of Neurodevelopmental Disorders 2017 9:14

    Published on: 12 June 2017

  13. 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...

    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

    Journal of Neurodevelopmental Disorders 2017 9:7

    Published on: 12 June 2017

  15. Research

    Diagnoses and characteristics of autism spectrum disorders in children with Prader-Willi syndrome

    A small percentage of people with autism spectrum disorders (ASD) have alterations in chromosome 15q11.2-q3, the critical region for Prader-Willi syndrome (PWS). Data are limited, however, on the rates and cha...

    Elisabeth M. Dykens, Elizabeth Roof, Hailee Hunt-Hawkins, Nathan Dankner, Evon Batey Lee, Carolyn M. Shivers, Christopher Daniell and Soo-Jeong Kim

    Journal of Neurodevelopmental Disorders 2017 9:18

    Published on: 5 June 2017

  16. Research

    Exploring the heterogeneity of neural social indices for genetically distinct etiologies of autism

    Autism spectrum disorder (ASD) is a genetically and phenotypically heterogeneous disorder. Promising initiatives utilizing interdisciplinary characterization of ASD suggest phenotypic subtypes related to speci...

    Caitlin M. Hudac, Holly A. F. Stessman, Trent D. DesChamps, Anna Kresse, Susan Faja, Emily Neuhaus, Sara Jane Webb, Evan E. Eichler and Raphael A. Bernier

    Journal of Neurodevelopmental Disorders 2017 9:24

    Published on: 26 May 2017

  17. Research

    Motor problems in children with neurofibromatosis type 1

    Children with the neurogenetic disorder neurofibromatosis type 1 (NF1) often have problems with learning and behaviour. In both parent reports and neuropsychological assessment, motor problems are reported in ...

    André B. Rietman, Rianne Oostenbrink, Sanne Bongers, Eddy Gaukema, Sandra van Abeelen, Jos G. Hendriksen, Caspar W. N. Looman, Pieter F. A. de Nijs and Marie-Claire de Wit

    Journal of Neurodevelopmental Disorders 2017 9:19

    Published on: 19 May 2017

  18. Research

    Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis

    Clinicians have qualitatively described rhythmic delta activity as a prominent EEG abnormality in individuals with Angelman syndrome, but this phenotype has yet to be rigorously quantified in the clinical popu...

    Michael S. Sidorov, Gina M. Deck, Marjan Dolatshahi, Ronald L. Thibert, Lynne M. Bird, Catherine J. Chu and Benjamin D. Philpot

    Journal of Neurodevelopmental Disorders 2017 9:17

    Published on: 8 May 2017

    The Erratum to this article has been published in Journal of Neurodevelopmental Disorders 2017 9:30

  19. Research

    Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety

    Autonomic dysfunction is implicated in a range of psychological conditions, including depression and anxiety. The fragile X mental retardation-1 (FMR1) premutation is a common genetic mutation that affects ~1:150...

    Jessica Klusek, Giuseppe LaFauci, Tatyana Adayev, W. Ted Brown, Flora Tassone and Jane E. Roberts

    Journal of Neurodevelopmental Disorders 2017 9:16

    Published on: 2 May 2017

  20. Research

    Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study

    Rett syndrome is a severe neurodevelopmental disorder associated with mutations in the MECP2 gene. Irregular breathing patterns and abdominal bloating are prominent but poorly understood features. Our aims were t...

    Jessica Mackay, Jenny Downs, Kingsley Wong, Jane Heyworth, Amy Epstein and Helen Leonard

    Journal of Neurodevelopmental Disorders 2017 9:15

    Published on: 28 April 2017

  21. Research

    Atypical sound discrimination in children with ASD as indicated by cortical ERPs

    Individuals with autism spectrum disorder (ASD) show a relative indifference to the human voice. Accordingly, and contrarily to their typically developed peers, adults with autism do not show a preferential re...

    Aurélie Bidet-Caulet, Marianne Latinus, Sylvie Roux, Joëlle Malvy, Frédérique Bonnet-Brilhault and Nicole Bruneau

    Journal of Neurodevelopmental Disorders 2017 9:13

    Published on: 5 April 2017

  22. 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...

    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

    Journal of Neurodevelopmental Disorders 2017 9:11

    Published on: 14 March 2017

  24. 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...

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

    Journal of Neurodevelopmental Disorders 2017 9:8

    Published on: 3 March 2017

  25. Research

    Altered functional resting-state hypothalamic connectivity and abnormal pituitary morphology in children with Prader-Willi syndrome

    Prader-Willi syndrome (PWS) is a complex neurodevelopmental disorder, characterized by endocrine problems and hyperphagia, indicating hypothalamic-pituitary dysfunction. However, few studies have explored the ...

    Akvile Lukoshe, Suzanne E. van Dijk, Gerbrich E. van den Bosch, Aad van der Lugt, Tonya White and Anita C. Hokken-Koelega

    Journal of Neurodevelopmental Disorders 2017 9:12

    Published on: 21 February 2017

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