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  1. Research

    Functional characterization of rare FOXP2 variants in neurodevelopmental disorder

    Heterozygous disruption of FOXP2 causes a rare form of speech and language impairment. Screens of the FOXP2 sequence in individuals with speech/language-related disorders have identified several rare protein-alte...

    Sara B. Estruch, Sarah A. Graham, Swathi M. Chinnappa, Pelagia Deriziotis and Simon E. Fisher

    Journal of Neurodevelopmental Disorders 2016 8:44

    Published on: 28 November 2016

  2. Research

    Postural orientation and equilibrium processes associated with increased postural sway in autism spectrum disorder (ASD)

    Increased postural sway has been repeatedly documented in children with autism spectrum disorder (ASD). Characterizing the control processes underlying this deficit, including postural orientation and equilibr...

    Zheng Wang, Rami R. Hallac, Kaitlin C. Conroy, Stormi P. White, Alex A. Kane, Amy L. Collinsworth, John A. Sweeney and Matthew W. Mosconi

    Journal of Neurodevelopmental Disorders 2016 8:43

    Published on: 25 November 2016

  3. Research

    Associations between social cognition, skills, and function and subclinical negative and positive symptoms in 22q11.2 deletion syndrome

    Identification of the early signs of schizophrenia would be a major achievement for the early intervention and prevention strategies in psychiatry. Social impairments are defining features of schizophrenia. Im...

    A. Vangkilde, J. R. M. Jepsen, H. Schmock, C. Olesen, S. Arnarsdóttir, W. F. C. Baaré, K. J. Plessen, M. Didriksen, H. R. Siebner, T. Werge and L. Olsen

    Journal of Neurodevelopmental Disorders 2016 8:42

    Published on: 16 November 2016

  4. Research

    Visual memory profile in 22q11.2 microdeletion syndrome: are there differences in performance and neurobiological substrates between tasks linked to ventral and dorsal visual brain structures? A cross-sectional and longitudinal study

    Children affected by the 22q11.2 deletion syndrome (22q11.2DS) have a specific neuropsychological profile with strengths and weaknesses in several cognitive domains. Specifically, previous evidence has shown t...

    Mathilde Bostelmann, Maude Schneider, Maria Carmela Padula, Johanna Maeder, Marie Schaer, Elisa Scariati, Martin Debbané, Bronwyn Glaser, Sarah Menghetti and Stephan Eliez

    Journal of Neurodevelopmental Disorders 2016 8:41

    Published on: 10 November 2016

  5. Research

    Developmental profiles of infants with an FMR1 premutation

    Emerging evidence suggests that a subset of FMR1 premutation carriers is at an increased risk for cognitive, emotional, and medical conditions. However, because the premutation is rarely diagnosed at birth, the e...

    Anne C. Wheeler, John Sideris, Randi Hagerman, Elizabeth Berry-Kravis, Flora Tassone and Donald B. Bailey

    Journal of Neurodevelopmental Disorders 2016 8:40

    Published on: 3 November 2016

  6. Research

    Typical visual search performance and atypical gaze behaviors in response to faces in Williams syndrome

    Evidence indicates that individuals with Williams syndrome (WS) exhibit atypical attentional characteristics when viewing faces. However, the dynamics of visual attention captured by faces remain unclear, espe...

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

    Journal of Neurodevelopmental Disorders 2016 8:38

    Published on: 24 October 2016

  7. Research

    Effects of early-life exposure to THIP on phenotype development in a mouse model of Rett syndrome

    Rett syndrome (RTT) is a neurodevelopmental disorder caused mostly by disruptions in the MECP2 gene. MECP2-null mice show imbalances in neuronal excitability and synaptic communications. Several previous studies ...

    Weiwei Zhong, Christopher Mychal Johnson, Yang Wu, Ningren Cui, Hao Xing, Shuang Zhang and Chun Jiang

    Journal of Neurodevelopmental Disorders 2016 8:37

    Published on: 19 October 2016

  8. Research

    Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation

    Obsessive-compulsive disorder (OCD) is a heterogeneous neuropsychiatric condition, thought to have a significant genetic component. When onset occurs in childhood, affected individuals generally exhibit differ...

    Matthew J. Gazzellone, Mehdi Zarrei, Christie L. Burton, Susan Walker, Mohammed Uddin, S. M. Shaheen, Julie Coste, Rageen Rajendram, Reva J. Schachter, Marlena Colasanto, Gregory L. Hanna, David R. Rosenberg, Noam Soreni, Kate D. Fitzgerald, Christian R. Marshall, Janet A. Buchanan…

    Journal of Neurodevelopmental Disorders 2016 8:36

    Published on: 18 October 2016

  9. New method

    The NIH Toolbox Cognitive Battery for intellectual disabilities: three preliminary studies and future directions

    Recent advances in understanding molecular and synaptic mechanisms of intellectual disabilities (ID) in fragile X syndrome (FXS) and Down syndrome (DS) through animal models have led to targeted controlled tri...

    David Hessl, Stephanie M. Sansone, Elizabeth Berry-Kravis, Karen Riley, Keith F. Widaman, Leonard Abbeduto, Andrea Schneider, Jeanine Coleman, Dena Oaklander, Kelly C. Rhodes and Richard C. Gershon

    Journal of Neurodevelopmental Disorders 2016 8:35

    Published on: 6 September 2016

  10. Research

    Atypical audiovisual word processing in school-age children with a history of specific language impairment: an event-related potential study

    Visual speech cues influence different aspects of language acquisition. However, whether developmental language disorders may be associated with atypical processing of visual speech is unknown. In this study, ...

    Natalya Kaganovich, Jennifer Schumaker and Courtney Rowland

    Journal of Neurodevelopmental Disorders 2016 8:33

    Published on: 5 September 2016

  11. Research

    Automatic cortical representation of auditory pitch changes in Rett syndrome

    Over the typical course of Rett syndrome, initial language and communication abilities deteriorate dramatically between the ages of 1 and 4 years, and a majority of these children go on to lose all oral commun...

    John J. Foxe, Kelly M. Burke, Gizely N. Andrade, Aleksandra Djukic, Hans-Peter Frey and Sophie Molholm

    Journal of Neurodevelopmental Disorders 2016 8:34

    Published on: 1 September 2016

  12. Research

    Comparing oxytocin and cortisol regulation in a double-blind, placebo-controlled, hydrocortisone challenge pilot study in children with autism and typical development

    Children with autism spectrum disorder (ASD) show marked impairment in social functioning and poor adaptation to new and changing contexts, which may be influenced by underlying regulatory processes. Oxytocin ...

    Blythe A. Corbett, Karen L. Bales, Deanna Swain, Kevin Sanders, Tamara A. R. Weinstein and Louis J. Muglia

    Journal of Neurodevelopmental Disorders 2016 8:32

    Published on: 18 August 2016

  13. Research

    Visual perception and processing in children with 22q11.2 deletion syndrome: associations with social cognition measures of face identity and emotion recognition

    People with 22q11.2 deletion syndrome (22q11DS) have difficulty processing social information including facial identity and emotion processing. However, difficulties with visual and attentional processes may p...

    Kathryn L. McCabe, Stuart Marlin, Gavin Cooper, Robin Morris, Ulrich Schall, Declan G. Murphy, Kieran C. Murphy and Linda E. Campbell

    Journal of Neurodevelopmental Disorders 2016 8:30

    Published on: 17 August 2016

  14. Research

    Neurophysiological hyperresponsivity to sensory input in autism spectrum disorders

    Atypical sensory processing is a common clinical observation in autism spectrum disorder (ASD). Neural hyperexcitability has been suggested as the cause for sensory hypersensitivity, a frequently reported clin...

    Yukari Takarae, Savanna R. Sablich, Stormi P. White and John A. Sweeney

    Journal of Neurodevelopmental Disorders 2016 8:29

    Published on: 8 August 2016

  15. Research

    Sex bias in autism spectrum disorder in neurofibromatosis type 1

    Despite extensive literature, little is known about the mechanisms underlying sex bias in autism spectrum disorder (ASD). This study investigates the sex differences in ASD associated with neurofibromatosis ty...

    Shruti Garg, Hein Heuvelman, Susan Huson, Hannah Tobin and Jonathan Green

    Journal of Neurodevelopmental Disorders 2016 8:26

    Published on: 26 July 2016

  16. Research

    Neural correlates of reward processing in adults with 22q11 deletion syndrome

    22q11.2 deletion syndrome (22q11DS) is caused by a microdeletion on chromosome 22q11.2 and associated with an increased risk to develop psychosis. The gene coding for catechol-O-methyl-transferase (COMT) is lo...

    Esther D. A. van Duin, Liesbet Goossens, Dennis Hernaus, Fabiana da Silva Alves, Nicole Schmitz, Koen Schruers and Therese van Amelsvoort

    Journal of Neurodevelopmental Disorders 2016 8:25

    Published on: 15 July 2016

    The Erratum to this article has been published in Journal of Neurodevelopmental Disorders 2016 8:31

  17. Research

    Characterization of Rett Syndrome-like phenotypes in Mecp2-knockout rats

    Rett Syndrome (RTT) is a neurodevelopmental disease caused by the disruption of the MECP2 gene. Several mouse models of RTT have been developed with Mecp2 disruptions. Although the mouse models are widely used in...

    Yang Wu, Weiwei Zhong, Ningren Cui, Christopher M. Johnson, Hao Xing, Shuang Zhang and Chun Jiang

    Journal of Neurodevelopmental Disorders 2016 8:23

    Published on: 16 June 2016

  18. Research

    Further evidence for a parent-of-origin effect at the NOP9 locus on language-related phenotypes

    Specific language impairment (SLI) is a common neurodevelopmental disorder, observed in 5–10 % of children. Family and twin studies suggest a strong genetic component, but relatively few candidate genes have b...

    Kerry A. Pettigrew, Emily Frinton, Ron Nudel, May T. M. Chan, Paul Thompson, Marianna E. Hayiou-Thomas, Joel B. Talcott, John Stein, Anthony P. Monaco, Charles Hulme, Margaret J. Snowling, Dianne F. Newbury and Silvia Paracchini

    Journal of Neurodevelopmental Disorders 2016 8:24

    Published on: 14 June 2016

  19. Review

    Complexities of X chromosome inactivation status in female human induced pluripotent stem cells—a brief review and scientific update for autism research

    Induced pluripotent stem cells (iPSCs) allow researchers to make customized patient-derived cell lines by reprogramming noninvasively retrieved somatic cells. These cell lines have the potential to faithfully ...

    Mary G. Dandulakis, Kesavan Meganathan, Kristen L. Kroll, Azad Bonni and John N. Constantino

    Journal of Neurodevelopmental Disorders 2016 8:22

    Published on: 9 June 2016

  20. Research

    Investigating the effects of copy number variants on reading and language performance

    Reading and language skills have overlapping genetic bases, most of which are still unknown. Part of the missing heritability may be caused by copy number variants (CNVs).

    Alessandro Gialluisi, Alessia Visconti, Erik G. Willcutt, Shelley D. Smith, Bruce F. Pennington, Mario Falchi, John C. DeFries, Richard K. Olson, Clyde Francks and Simon E. Fisher

    Journal of Neurodevelopmental Disorders 2016 8:17

    Published on: 15 May 2016

  21. Research

    Identification of a distinct developmental and behavioral profile in children with Dup15q syndrome

    One of the most common genetic variants associated with autism spectrum disorder (ASD) are duplications of chromosome 15q11.2-q13.1 (Dup15q syndrome). To identify distinctive developmental and behavioral featu...

    Charlotte DiStefano, Amanda Gulsrud, Scott Huberty, Connie Kasari, Edwin Cook, Lawrence T. Reiter, Ronald Thibert and Shafali Spurling Jeste

    Journal of Neurodevelopmental Disorders 2016 8:19

    Published on: 6 May 2016

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