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  1. 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

  2. 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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  3. 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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  4. 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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  5. 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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  6. 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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  7. 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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  8. 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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  9. 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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  10. 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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  11. 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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  12. 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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  13. 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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  14. 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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  15. 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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  16. 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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  17. 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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  18. 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

  19. 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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  20. 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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  21. 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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  22. 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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  23. 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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  24. 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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  25. 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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  26. 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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  27. Content type: Research

    Reelin plays a pivotal role in neurodevelopment and in post-natal synaptic plasticity and has been implicated in the pathogenesis of autism spectrum disorder (ASD). The reelin (RELN) gene expression is significan...

    Authors: Carla Lintas, Roberto Sacco and Antonio M. Persico

    Citation: Journal of Neurodevelopmental Disorders 2016 8:18

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  28. Content type: Research

    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...

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

    Citation: Journal of Neurodevelopmental Disorders 2016 8:16

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  29. Content type: Research

    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 ...

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

    Citation: Journal of Neurodevelopmental Disorders 2016 8:11

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  30. Content type: Research

    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...

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

    Citation: Journal of Neurodevelopmental Disorders 2016 8:15

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  31. Content type: Research

    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...

    Authors: 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

    Citation: Journal of Neurodevelopmental Disorders 2016 8:12

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  32. Content type: Research

    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...

    Authors: 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…

    Citation: Journal of Neurodevelopmental Disorders 2016 8:9

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  33. Content type: Research

    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...

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

    Citation: Journal of Neurodevelopmental Disorders 2016 8:10

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  34. Content type: Research

    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...

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

    Citation: Journal of Neurodevelopmental Disorders 2016 8:7

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  35. Content type: Research

    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...

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

    Citation: Journal of Neurodevelopmental Disorders 2016 8:6

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  36. Content type: Research

    Phelan-McDermid syndrome (PMS), a neurodevelopmental disorder caused by deletion or mutation in the SHANK3 gene, is one of the more common single-locus causes of autism spectrum disorder (ASD). PMS is characteriz...

    Authors: A. Ting Wang, Teresa Lim, Jesslyn Jamison, Lauren Bush, Latha V. Soorya, Teresa Tavassoli, Paige M. Siper, Joseph D. Buxbaum and Alexander Kolevzon

    Citation: Journal of Neurodevelopmental Disorders 2016 8:5

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

  37. Content type: Research

    The DYX5 locus for developmental dyslexia was mapped to chromosome 3 by linkage study of a large Finnish family, and later, roundabout guidance receptor 1 (ROBO1) was implicated as a candidate gene at DYX5 with s...

    Authors: Satu Massinen, Jingwen Wang, Krista Laivuori, Andrea Bieder, Isabel Tapia Paez, Hong Jiao and Juha Kere

    Citation: Journal of Neurodevelopmental Disorders 2016 8:4

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  38. Content type: Research

    22q11.2 deletion syndrome (22q11DS) is a neurogenetic condition associated with deficits in neuropsychological functioning and psychiatric disorders. This deletion confers a high risk for the development of ps...

    Authors: Leah M. Mattiaccio, Ioana L. Coman, Matthew J. Schreiner, Kevin M. Antshel, Wanda P. Fremont, Carrie E. Bearden and Wendy R. Kates

    Citation: Journal of Neurodevelopmental Disorders 2016 8:2

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  39. Content type: Research

    Individuals with Down syndrome (DS) and individuals with Williams syndrome (WS) have poor navigation skills, which impact their potential to become independent. Two aspects of navigation were investigated in t...

    Authors: Emily K. Farran, Harry R. M. Purser, Yannick Courbois, Marine Ballé, Pascal Sockeel, Daniel Mellier and Mark Blades

    Citation: Journal of Neurodevelopmental Disorders 2015 7:37

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  40. Content type: Research

    A phase II randomized, placebo-controlled, double-blind study and subsequent open-label extension study evaluated the efficacy, safety, and tolerability of mavoglurant (AFQ056), a selective metabotropic glutam...

    Authors: Donald B. Bailey Jr., Elizabeth Berry-Kravis, Anne Wheeler, Melissa Raspa, Florence Merrien, Javier Ricart, Barbara Koumaras, Gerd Rosenkranz, Mark Tomlinson, Florian von Raison and George Apostol

    Citation: Journal of Neurodevelopmental Disorders 2015 8:1

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  41. Content type: Research

    Internationally adopted children have often experienced early adversity and growth suppression as a consequence of institutional care. Furthermore, these children are at risk for impaired cognitive development...

    Authors: Maria G. Kroupina, Judith K. Eckerle, Anita J. Fuglestad, Liza Toemen, Stephanie Moberg, John H. Himes, Bradley S. Miller, Anna Petryk and Dana E. Johnson

    Citation: Journal of Neurodevelopmental Disorders 2015 7:36

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  42. Content type: Research

    Our laboratory discovered that the gene encoding the receptor tyrosine kinase, MET, contributes to autism risk. Expression of MET is reduced in human postmortem temporal lobe in autism and Rett Syndrome. Subseque...

    Authors: Barbara L. Thompson and Pat Levitt

    Citation: Journal of Neurodevelopmental Disorders 2015 7:35

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  43. Content type: Research

    Altered sensory sensitivity is generally linked to seizure-susceptibility in childhood epilepsy but may also be associated to the highly prevalent problems in behavioral adaptation. This association is further...

    Authors: Jolien S. van Campen, Floor E. Jansen, Nienke J. Kleinrensink, Marian Joëls, Kees PJ Braun and Hilgo Bruining

    Citation: Journal of Neurodevelopmental Disorders 2015 7:34

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