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  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. Research

    Combined genome-wide linkage and targeted association analysis of head circumference in autism spectrum disorder families

    It has long been recognized that there is an association between enlarged head circumference (HC) and autism spectrum disorder (ASD), but the genetics of HC in ASD is not well understood. In order to investiga...

    M. Woodbury-Smith, D. A. Bilder, J. Morgan, L. Jerominski, T. Darlington, T. Dyer, A. D. Paterson and H. Coon

    Journal of Neurodevelopmental Disorders 2017 9:5

    Published on: 13 February 2017

  9. Research

    Lateralization of ERPs to speech and handedness in the early development of Autism Spectrum Disorder

    Language is a highly lateralized function, with typically developing individuals showing left hemispheric specialization. Individuals with autism spectrum disorder (ASD) often show reduced or reversed hemisphe...

    Kayla H. Finch, Anne M. Seery, Meagan R. Talbott, Charles A. Nelson and Helen Tager-Flusberg

    Journal of Neurodevelopmental Disorders 2017 9:4

    Published on: 5 February 2017

  10. Research

    Distinct neural bases of disruptive behavior and autism symptom severity in boys with autism spectrum disorder

    Disruptive behavior in autism spectrum disorder (ASD) is an important clinical problem, but its neural basis remains poorly understood. The current research aims to better understand the neural underpinnings o...

    Y. J. Daniel Yang, Denis G. Sukhodolsky, Jiedi Lei, Eran Dayan, Kevin A. Pelphrey and Pamela Ventola

    Journal of Neurodevelopmental Disorders 2017 9:1

    Published on: 17 January 2017

  11. Research

    A developmental, longitudinal investigation of autism phenotypic profiles in fragile X syndrome

    Targeting overlapping behavioral phenotypes in neurogenetic disorders can help elucidate gene-behavior relationships. Fragile X syndrome (FXS) and autism spectrum disorder (ASD) have been studied as a model fo...

    Michelle Lee, Gary E. Martin, Elizabeth Berry-Kravis and Molly Losh

    Journal of Neurodevelopmental Disorders 2016 8:47

    Published on: 30 December 2016

    The Erratum to this article has been published in Journal of Neurodevelopmental Disorders 2017 9:10

  12. Research

    Verbal labels increase the salience of novel objects for preschoolers with typical development and Williams syndrome, but not in autism

    Early research has documented that young children show an increased interest toward objects that are verbally labeled by an adult, compared to objects that are presented without a label. It is unclear whether ...

    Giacomo Vivanti, Darren R. Hocking, Peter Fanning and Cheryl Dissanayake

    Journal of Neurodevelopmental Disorders 2016 8:46

    Published on: 30 December 2016

  13. 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

  14. 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

  15. 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

  16. 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

  17. 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 Jr.

    Journal of Neurodevelopmental Disorders 2016 8:40

    Published on: 3 November 2016

  18. 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

  19. 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

  20. 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

  21. 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

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