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Journal of Neurodevelopmental Disorders

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  1. Content type: Research

    Potocki-Lupski syndrome (PTLS) and Smith-Magenis syndrome (SMS) are related genomic disorders, as duplication 17p11.2 (associated with PTLS) is the reciprocal recombination product of the SMS microdeletion. Wh...

    Authors: Stacey Bissell, Lucy Wilde, Caroline Richards, Jo Moss and Chris Oliver

    Citation: Journal of Neurodevelopmental Disorders 2018 10:2

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  2. Content type: Research

    Adaptive behavior, or the ability to function independently in ones’ environment, is a key phenotypic construct in autism spectrum disorder (ASD). Few studies of the development of adaptive behavior during pre...

    Authors: Cristan Farmer, Lauren Swineford, Susan E. Swedo and Audrey Thurm

    Citation: Journal of Neurodevelopmental Disorders 2018 10:1

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  3. Content type: Research

    Dopamine (DA) is a critical neuromodulator in the retina. Disruption of retinal DA synthesis and signaling significantly attenuates light-adapted, electroretinogram (ERG) responses, as well as contrast sensiti...

    Authors: Heng Dai, Chad R. Jackson, Gwynne L. Davis, Randy D. Blakely and Douglas G. McMahon

    Citation: Journal of Neurodevelopmental Disorders 2017 9:38

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  4. Content type: Research

    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...

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

    Citation: Journal of Neurodevelopmental Disorders 2017 9:37

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  5. Content type: Research

    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...

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

    Citation: Journal of Neurodevelopmental Disorders 2017 9:36

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  6. Content type: Research

    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...

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

    Citation: Journal of Neurodevelopmental Disorders 2017 9:35

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  7. Content type: Research

    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

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  8. Content type: Research

    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...

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

    Citation: Journal of Neurodevelopmental Disorders 2017 9:34

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  9. Content type: Research

    Extreme shyness and social anxiety is reported to be characteristic of adolescents and adults with Cornelia de Lange syndrome (CdLS); however, the nature of these characteristics is not well documented. In thi...

    Authors: Lisa Nelson, Hayley Crawford, Donna Reid, Joanna Moss and Chris Oliver

    Citation: Journal of Neurodevelopmental Disorders 2017 9:33

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  10. Content type: Research

    Recent research has demonstrated that subclinical autistic traits of parents amplify the effects of deleterious mutations in the causation of autism spectrum disorder (ASD) in their offspring. Here, we examine...

    Authors: Sabine E. Mous, Allan Jiang, Arpana Agrawal and John N. Constantino

    Citation: Journal of Neurodevelopmental Disorders 2017 9:32

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  11. Content type: Research

    The FMR1 premutation affects 1:291 women and is associated with a range of cognitive, affective, and physical health complications, including deficits in pragmatic language (i.e., social language). This study inv...

    Authors: Jessica Klusek, Joseph Schmidt, Amanda J. Fairchild, Anna Porter and Jane E. Roberts

    Citation: Journal of Neurodevelopmental Disorders 2017 9:31

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  12. Content type: Research

    The aim of this study was to examine executive functioning in adolescents and adults with Cornelia de Lange syndrome (CdLS) to identify a syndrome and age-related profile of cognitive impairment.

    Authors: Donna Reid, Jo Moss, Lisa Nelson, Laura Groves and Chris Oliver

    Citation: Journal of Neurodevelopmental Disorders 2017 9:29

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  13. Content type: Research

    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 ...

    Authors: 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

    Citation: Journal of Neurodevelopmental Disorders 2017 9:26

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  14. Content type: Review

    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,...

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

    Citation: Journal of Neurodevelopmental Disorders 2017 9:27

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  15. Content type: Review

    ADHD (attention deficit hyperactivity disorder) is a common neurodevelopmental disorder. There has been extensive clinical and basic research in the field of ADHD over the past 20 years, but the mechanisms und...

    Authors: Tamar Green, Paige E. Naylor and William Davies

    Citation: Journal of Neurodevelopmental Disorders 2017 9:25

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  16. Content type: Review

    Many children with autism and other neurodevelopmental disorders undergo expensive, time-consuming behavioral interventions that often yield only modest improvements. The development of adjunctive intervention...

    Authors: Crystal T. Engineer, Seth A. Hays and Michael P. Kilgard

    Citation: Journal of Neurodevelopmental Disorders 2017 9:20

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  17. Content type: Research

    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...

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

    Citation: Journal of Neurodevelopmental Disorders 2017 9:28

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  18. Content type: Research

    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...

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

    Citation: Journal of Neurodevelopmental Disorders 2017 9:22

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  19. Content type: Research

    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

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  20. Content type: Research

    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

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  21. Content type: Review

    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

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  22. Content type: Review

    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

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