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  1. Research

    Prospective study of autism phenomenology and the behavioural phenotype of Phelan–McDermid syndrome: comparison to fragile X syndrome, Down syndrome and idiopathic autism spectrum disorder

    The limited behavioural phenotype literature on Phelan–McDermid syndrome (PMS) indicates atypically high levels of activity, impulsivity and autism spectrum disorder (ASD) behaviours. Divergent profiles of ASD...

    Caroline Richards, Laurie Powis, Jo Moss, Christopher Stinton, Lisa Nelson and Christopher Oliver

    Journal of Neurodevelopmental Disorders 2017 9:37

    Published on: 10 November 2017

  2. Research

    Saccade adaptation deficits in developmental dyslexia suggest disruption of cerebellar-dependent learning

    Estimates of the prevalence of developmental dyslexia in the general population range from 5% to as many as 10%. Symptoms include reading, writing, and language deficits, but the severity and mix of symptoms c...

    Edward G. Freedman, Sophie Molholm, Michael J. Gray, Daniel Belyusar and John J. Foxe

    Journal of Neurodevelopmental Disorders 2017 9:36

    Published on: 9 November 2017

  3. Research

    Understanding others: a pilot investigation of cognitive and affective facets of social cognition in patients with 22q11.2 deletion syndrome (22q11DS)

    Although significant impairments in the affective and cognitive facets of social cognition have been highlighted in patients with 22q11.2 deletion syndrome (22q11DS) in previous studies, these domains have nev...

    D. Badoud, M. Schneider, S. Menghetti, B. Glaser, M. Debbané and S. Eliez

    Journal of Neurodevelopmental Disorders 2017 9:35

    Published on: 25 September 2017

  4. Research

    EEG power at 3 months in infants at high familial risk for autism

    Alterations in brain development during infancy may precede the behavioral manifestation of developmental disorders. Infants at increased risk for autism are also at increased risk for other developmental diso...

    April R. Levin, Kandice J. Varcin, Heather M. O’Leary, Helen Tager-Flusberg and Charles A. Nelson

    Journal of Neurodevelopmental Disorders 2017 9:34

    Published on: 13 September 2017

  5. 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

  6. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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

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