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  1. 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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  2. 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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  3. 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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  4. 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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  5. Content type: Research

    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...

    Authors: Elisabeth M. Dykens, Elizabeth Roof, Hailee Hunt-Hawkins, Nathan Dankner, Evon Batey Lee, Carolyn M. Shivers, Christopher Daniell and Soo-Jeong Kim

    Citation: Journal of Neurodevelopmental Disorders 2017 9:18

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  6. Content type: Research

    Autism spectrum disorder (ASD) is a genetically and phenotypically heterogeneous disorder. Promising initiatives utilizing interdisciplinary characterization of ASD suggest phenotypic subtypes related to speci...

    Authors: 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

    Citation: Journal of Neurodevelopmental Disorders 2017 9:24

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  7. Content type: Research

    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 ...

    Authors: 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

    Citation: Journal of Neurodevelopmental Disorders 2017 9:19

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  8. Content type: Research

    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...

    Authors: Michael S. Sidorov, Gina M. Deck, Marjan Dolatshahi, Ronald L. Thibert, Lynne M. Bird, Catherine J. Chu and Benjamin D. Philpot

    Citation: Journal of Neurodevelopmental Disorders 2017 9:17

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    The Erratum to this article has been published in Journal of Neurodevelopmental Disorders 2017 9:30

  9. Content type: Research

    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...

    Authors: Jessica Klusek, Giuseppe LaFauci, Tatyana Adayev, W. Ted Brown, Flora Tassone and Jane E. Roberts

    Citation: Journal of Neurodevelopmental Disorders 2017 9:16

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  10. Content type: Research

    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...

    Authors: Jessica Mackay, Jenny Downs, Kingsley Wong, Jane Heyworth, Amy Epstein and Helen Leonard

    Citation: Journal of Neurodevelopmental Disorders 2017 9:15

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  11. Content type: Research

    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...

    Authors: Aurélie Bidet-Caulet, Marianne Latinus, Sylvie Roux, Joëlle Malvy, Frédérique Bonnet-Brilhault and Nicole Bruneau

    Citation: Journal of Neurodevelopmental Disorders 2017 9:13

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  12. Content type: Research

    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...

    Authors: 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

    Citation: Journal of Neurodevelopmental Disorders 2017 9:11

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  13. Content type: Research

    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...

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

    Citation: Journal of Neurodevelopmental Disorders 2017 9:8

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  14. Content type: Research

    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 ...

    Authors: Akvile Lukoshe, Suzanne E. van Dijk, Gerbrich E. van den Bosch, Aad van der Lugt, Tonya White and Anita C. Hokken-Koelega

    Citation: Journal of Neurodevelopmental Disorders 2017 9:12

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  15. Content type: Research

    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...

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

    Citation: Journal of Neurodevelopmental Disorders 2017 9:5

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  16. Content type: Research

    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...

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

    Citation: Journal of Neurodevelopmental Disorders 2017 9:4

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  17. Content type: Research

    Autism spectrum disorder (ASD) is a heritable, heterogeneous neurodevelopmental disorder that is four times more likely to affect males than females. Despite this overt sex bias, it is unclear how genetic muta...

    Authors: Leah B. Townsend and Spencer L. Smith

    Citation: Journal of Neurodevelopmental Disorders 2017 9:2

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  18. Content type: Research

    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...

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

    Citation: Journal of Neurodevelopmental Disorders 2017 9:1

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  19. Content type: Research

    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...

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

    Citation: Journal of Neurodevelopmental Disorders 2016 8:47

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

  20. Content type: Research

    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 ...

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

    Citation: Journal of Neurodevelopmental Disorders 2016 8:46

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  21. Content type: Research

    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...

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

    Citation: Journal of Neurodevelopmental Disorders 2016 8:44

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  22. Content type: Research

    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...

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

    Citation: Journal of Neurodevelopmental Disorders 2016 8:43

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  23. Content type: Research

    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...

    Authors: 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

    Citation: Journal of Neurodevelopmental Disorders 2016 8:42

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  24. Content type: Research

    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...

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

    Citation: Journal of Neurodevelopmental Disorders 2016 8:41

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  25. Content type: Research

    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...

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

    Citation: Journal of Neurodevelopmental Disorders 2016 8:40

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  26. Content type: Research

    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...

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

    Citation: Journal of Neurodevelopmental Disorders 2016 8:38

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  27. Content type: Research

    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 ...

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

    Citation: Journal of Neurodevelopmental Disorders 2016 8:37

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  28. Content type: Research

    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...

    Authors: 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…

    Citation: Journal of Neurodevelopmental Disorders 2016 8:36

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  29. Content type: New method

    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...

    Authors: 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

    Citation: Journal of Neurodevelopmental Disorders 2016 8:35

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  30. Content type: Research

    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, ...

    Authors: Natalya Kaganovich, Jennifer Schumaker and Courtney Rowland

    Citation: Journal of Neurodevelopmental Disorders 2016 8:33

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  31. Content type: Research

    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...

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

    Citation: Journal of Neurodevelopmental Disorders 2016 8:34

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  32. Content type: Research

    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 ...

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

    Citation: Journal of Neurodevelopmental Disorders 2016 8:32

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  33. Content type: Research

    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...

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

    Citation: Journal of Neurodevelopmental Disorders 2016 8:30

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  34. Content type: Research

    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...

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

    Citation: Journal of Neurodevelopmental Disorders 2016 8:29

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  35. Content type: Research

    Co-occurring mood and anxiety symptomatology is commonly observed among youth with autism spectrum disorders (ASD) during adolescence and adulthood. Yet, little is known about the factors that might predispose...

    Authors: Julie Lounds Taylor and Katherine O. Gotham

    Citation: Journal of Neurodevelopmental Disorders 2016 8:28

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  36. Content type: Research

    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...

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

    Citation: Journal of Neurodevelopmental Disorders 2016 8:26

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  37. Content type: Research

    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...

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

    Citation: Journal of Neurodevelopmental Disorders 2016 8:25

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

  38. Content type: Research

    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...

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

    Citation: Journal of Neurodevelopmental Disorders 2016 8:23

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  39. Content type: Research

    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...

    Authors: 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

    Citation: Journal of Neurodevelopmental Disorders 2016 8:24

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  40. Content type: Review

    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 ...

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

    Citation: Journal of Neurodevelopmental Disorders 2016 8:22

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  41. Content type: Research

    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).

    Authors: 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

    Citation: Journal of Neurodevelopmental Disorders 2016 8:17

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  42. Content type: Research

    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...

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

    Citation: Journal of Neurodevelopmental Disorders 2016 8:19

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  43. Content type: Research

    There are few studies documenting the persistence of self-injury in individuals with autism spectrum disorder (ASD) and consequently limited data on behavioural and demographic characteristics associated with ...

    Authors: Caroline Richards, Jo Moss, Lisa Nelson and Chris Oliver

    Citation: Journal of Neurodevelopmental Disorders 2016 8:21

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  44. Content type: New method

    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....

    Authors: 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

    Citation: Journal of Neurodevelopmental Disorders 2016 8:20

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  45. Content type: Research

    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 ...

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

    Citation: Journal of Neurodevelopmental Disorders 2016 8:14

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