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  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. New method

    Methods for acquiring MRI data in children with autism spectrum disorder and intellectual impairment without the use of sedation

    Magnetic resonance imaging (MRI) has been widely used in studies evaluating the neuropathology of autism spectrum disorder (ASD). Studies are often limited, however, to higher functioning individuals with ASD....

    Christine Wu Nordahl, Melissa Mello, Audrey M. Shen, Mark D. Shen, Laurie A. Vismara, Deana Li, Kayla Harrington, Costin Tanase, Beth Goodlin-Jones, Sally Rogers, Leonard Abbeduto and David G. Amaral

    Journal of Neurodevelopmental Disorders 2016 8:20

    Published on: 5 May 2016

  10. Research

    Effects of sex and DTNBP1 (dysbindin) null gene mutation on the developmental GluN2B-GluN2A switch in the mouse cortex and hippocampus

    Neurodevelopmental disorders such as autism spectrum disorders and schizophrenia differentially impact males and females and are highly heritable. The ways in which sex and genetic vulnerability influence the ...

    Duncan Sinclair, Joseph Cesare, Mary McMullen, Greg C Carlson, Chang-Gyu Hahn and Karin E Borgmann-Winter

    Journal of Neurodevelopmental Disorders 2016 8:14

    Published on: 1 May 2016

  11. Research

    Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children

    Phelan-McDermid syndrome (PMS) or 22q13.3 deletion syndrome is characterized by global developmental delay, cognitive deficits, and behaviour in the autism spectrum. Knowledge about developmental and behaviour...

    Renée J. Zwanenburg, Selma A.J. Ruiter, Edwin R. van den Heuvel, Boudien C.T. Flapper and Conny M.A. Van Ravenswaaij-Arts

    Journal of Neurodevelopmental Disorders 2016 8:16

    Published on: 26 April 2016

  12. Research

    Array-based molecular karyotyping in fetuses with isolated brain malformations identifies disease-causing CNVs

    The overall birth prevalence for congenital malformations of the central nervous system (CNS) among Europeans may be as high as 1 in 100 live births. The etiological factors remain largely unknown. The aim of ...

    Madita Schumann, Andrea Hofmann, Sophia K. Krutzke, Alina C. Hilger, Florian Marsch, Dietlinde Stienen, Ulrich Gembruch, Michael Ludwig, Waltraut M. Merz and Heiko Reutter

    Journal of Neurodevelopmental Disorders 2016 8:11

    Published on: 15 April 2016

  13. Research

    A functional neuroimaging study of fusiform response to restricted interests in children and adolescents with autism spectrum disorder

    While autism spectrum disorder (ASD) is characterized by both social communication deficits and restricted and repetitive patterns of behavior and interest, literature examining possible neural bases of the la...

    Jennifer H. Foss-Feig, Rankin W. McGugin, Isabel Gauthier, Lisa E. Mash, Pamela Ventola and Carissa J. Cascio

    Journal of Neurodevelopmental Disorders 2016 8:15

    Published on: 14 April 2016

  14. Research

    Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update

    Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive inborn error of cholesterol metabolism syndrome with neurocognitive manifestations. SLOS is the result of mutations in the gene encoding the 7-dehydr...

    Audrey Thurm, Elaine Tierney, Cristan Farmer, Phebe Albert, Lisa Joseph, Susan Swedo, Simona Bianconi, Irena Bukelis, Courtney Wheeler, Geeta Sarphare, Diane Lanham, Christopher A. Wassif and Forbes D. Porter

    Journal of Neurodevelopmental Disorders 2016 8:12

    Published on: 5 April 2016

  15. Research

    Specific pattern of maturation and differentiation in the formation of cortical tubers in tuberous sclerosis complex (TSC): evidence from layer-specific marker expression

    Tuberous sclerosis complex (TSC) is a multisystem disorder that results from mutations in the TSC1 or TSC2 genes, leading to constitutive activation of the mammalian target of rapamycin (mTOR) signaling pathwa...

    Angelika Mühlebner, Anand M. Iyer, Jackelien van Scheppingen, Jasper J. Anink, Floor E. Jansen, Tim J. Veersema, Kees P. Braun, Wim G. M. Spliet, Wim van Hecke, Figen Söylemezoğlu, Martha Feucht, Pavel Krsek, Josef Zamecnik, Christian G. Bien, Tilman Polster, Roland Coras…

    Journal of Neurodevelopmental Disorders 2016 8:9

    Published on: 1 April 2016

  16. Research

    Developmental trajectories of executive functions in 22q11.2 deletion syndrome

    22q11.2 deletion syndrome (22q11.2DS) is a genetic disorder associated with a specific cognitive profile. Higher-order cognitive skills like executive functions (EF) are reported as a relative weakness in this...

    Johanna Maeder, Maude Schneider, Mathilde Bostelmann, Martin Debbané, Bronwyn Glaser, Sarah Menghetti, Marie Schaer and Stephan Eliez

    Journal of Neurodevelopmental Disorders 2016 8:10

    Published on: 25 March 2016

  17. Research

    Reduced engagement with social stimuli in 6-month-old infants with later autism spectrum disorder: a longitudinal prospective study of infants at high familial risk

    Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects more than 1 % of the population and close to 20 % of prospectively studied infants with an older sibling with ASD. Although signific...

    E. J. H. Jones, K. Venema, R. Earl, R. Lowy, K. Barnes, A. Estes, G. Dawson and S. J. Webb

    Journal of Neurodevelopmental Disorders 2016 8:7

    Published on: 15 March 2016

  18. Research

    Limited impact of Cntn4 mutation on autism-related traits in developing and adult C57BL/6J mice

    Mouse models offer an essential tool to unravel the impact of genetic mutations on autism-related phenotypes. The behavioral impact of some important candidate gene models for autism spectrum disorder (ASD) ha...

    Remco T. Molenhuis, Hilgo Bruining, Esther Remmelink, Leonie de Visser, Maarten Loos, J. Peter H. Burbach and Martien J. H. Kas

    Journal of Neurodevelopmental Disorders 2016 8:6

    Published on: 2 March 2016

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