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  1. Content type: Research

    Neurofibromatosis type 1 (NF1) is a single-gene neurodevelopmental disorder, in which social and cognitive problems are highly prevalent. Several commonly observed central nervous system (CNS) abnormalities in...

    Authors: Stephan CJ Huijbregts, Marisa Loitfelder, Serge A Rombouts, Hanna Swaab, Berit M Verbist, Enrico B Arkink, Mark A Van Buchem and Ilya M Veer

    Citation: Journal of Neurodevelopmental Disorders 2015 7:32

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  2. Content type: Research

    Autism spectrum disorder (ASD) is a common and highly heritable neurodevelopmental disorder that is likely to be the outcome of complex aetiological mechanisms. One strategy to provide insight is to study ASD ...

    Authors: Charlotte Tye, Teresa Farroni, Ágnes Volein, Evelyne Mercure, Leslie Tucker, Mark H. Johnson and Patrick F. Bolton

    Citation: Journal of Neurodevelopmental Disorders 2015 7:33

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  3. Content type: Research

    Rett syndrome (RTT) is a severe neurodevelopmental disorder characterized by regression of language and motor skills, cognitive impairment, and frequent seizures. Although the diagnostic criteria focus on comm...

    Authors: Katherine V. Barnes, Francesca R. Coughlin, Heather M. O’Leary, Natalie Bruck, Grace A. Bazin, Emily B. Beinecke, Alexandra C. Walco, Nicole G. Cantwell and Walter E. Kaufmann

    Citation: Journal of Neurodevelopmental Disorders 2015 7:30

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  4. Content type: Research

    Sleep disturbance is part of the behavioural phenotype of the rare genetic condition mucopolysaccharidosis (MPS) type III. A growing body of evidence suggests that underlying disturbance in circadian rhythm fu...

    Authors: Rachel A. Mumford, Louise V. Mahon, Simon Jones, Brian Bigger, Maria Canal and Dougal Julian Hare

    Citation: Journal of Neurodevelopmental Disorders 2015 7:31

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  5. Content type: Research

    While it is now recognized that autism spectrum disorder (ASD) is typically a life-long condition, there exist only a handful of systematic studies on middle-aged and older adults with this condition.

    Authors: Sergio Starkstein, Scott Gellar, Morgan Parlier, Leslie Payne and Joseph Piven

    Citation: Journal of Neurodevelopmental Disorders 2015 7:29

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  6. Content type: Research

    Developmental stuttering is a multi-factorial disorder. Measures of neural activity while children processed the phonological (language sound unit) properties of words have revealed neurodevelopmental differen...

    Authors: Ranjini Mohan and Christine Weber

    Citation: Journal of Neurodevelopmental Disorders 2015 7:28

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  7. Content type: Research

    Recent studies link autism spectrum disorders (ASD) with an altered balance between excitation and inhibition (E/I balance) in cortical networks. The brain oscillations in high gamma-band (50–120 Hz) are sensi...

    Authors: Tatiana A. Stroganova, Anna V. Butorina, Olga V. Sysoeva, Andrey O. Prokofyev, Anastasia Yu. Nikolaeva, Marina M. Tsetlin and Elena V. Orekhova

    Citation: Journal of Neurodevelopmental Disorders 2015 7:21

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  8. Content type: Research

    Neurodevelopmental disorders are impairments of brain function that affect emotion, learning, and memory. Copy number variations of contactin genes (CNTNs), including CNTN3, CNTN4, CNTN5, and CNTN6, have been sug...

    Authors: Jie Hu, Jun Liao, Malini Sathanoori, Sally Kochmar, Jessica Sebastian, Svetlana A. Yatsenko and Urvashi Surti

    Citation: Journal of Neurodevelopmental Disorders 2015 7:26

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  9. Content type: Research

    The neural endophenotype associated with 22q11.2 deletion syndrome (22q11DS) includes deviant cortical development and alterations in brain connectivity. Resting-state functional magnetic resonance imaging (fM...

    Authors: Maria Carmela Padula, Marie Schaer, Elisa Scariati, Maude Schneider, Dimitri Van De Ville, Martin Debbané and Stephan Eliez

    Citation: Journal of Neurodevelopmental Disorders 2015 7:23

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  10. Content type: Research

    Existing literature suggests differences in face scanning in individuals with different socio-behavioural characteristics. Cornelia de Lange syndrome (CdLS) and Rubinstein-Taybi syndrome (RTS) are two genetica...

    Authors: Hayley Crawford, Joanna Moss, Joseph P. McCleery, Giles M. Anderson and Chris Oliver

    Citation: Journal of Neurodevelopmental Disorders 2015 7:22

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  11. Content type: Research

    Copy number variations (CNV) within the recurrent ~600 kb chromosomal locus of 16p11.2 are associated with a wide range of neurodevelopmental disorders, including autism spectrum disorder (ASD). However, little i...

    Authors: Caitlin M. Hudac, Anna Kresse, Benjamin Aaronson, Trent D. DesChamps, Sara Jane Webb and Raphael A. Bernier

    Citation: Journal of Neurodevelopmental Disorders 2015 7:25

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  12. Content type: Research

    To delineate the early progression of autism spectrum disorder (ASD) symptoms, this study investigated developmental characteristics of infants at high familial risk for ASD (HR), and infants at low risk (LR).

    Authors: Annette Estes, Lonnie Zwaigenbaum, Hongbin Gu, Tanya St. John, Sarah Paterson, Jed T. Elison, Heather Hazlett, Kelly Botteron, Stephen R. Dager, Robert T. Schultz, Penelope Kostopoulos, Alan Evans, Geraldine Dawson, Jordana Eliason, Shanna Alvarez and Joseph Piven

    Citation: Journal of Neurodevelopmental Disorders 2015 7:24

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  13. Content type: Research

    Salla disease (SD) is a rare lysosomal storage disorder leading to severe intellectual disability. SD belongs to the Finnish disease heritage, and it is caused by mutations in the SLC17A5 gene. The aim of the stu...

    Authors: Liisa E. Paavola, Anne M. Remes, Marika J. Harila, Tarja T. Varho, Tapio T. Korhonen and Kari Majamaa

    Citation: Journal of Neurodevelopmental Disorders 2015 7:20

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  14. Content type: Research

    A subgroup of young children with autism spectrum disorders (ASD) have significant language impairments (phonology, grammar, vocabulary), although such impairments are not considered to be core symptoms of and...

    Authors: Alison Presmanes Hill, Jan van Santen, Kyle Gorman, Beth Hoover Langhorst and Eric Fombonne

    Citation: Journal of Neurodevelopmental Disorders 2015 7:19

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  15. Content type: Research

    Prenatal androgen exposure has been hypothesized to be linked to autism spectrum disorder (ASD). While previous studies have found a link between testosterone levels in amniotic fluid and autistic-like traits,...

    Authors: Esha S. L. Jamnadass, Jeffrey A. Keelan, Lauren P. Hollier, Martha Hickey, Murray T. Maybery and Andrew J. O. Whitehouse

    Citation: Journal of Neurodevelopmental Disorders 2015 7:17

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  16. Content type: Research

    The ability to recognize and respond appropriately to threat is critical to survival, and the neural substrates subserving attention to threat may be probed using depictions of media violence. Whether neural r...

    Authors: Jeffrey S. Anderson, Scott M. Treiman, Michael A. Ferguson, Jared A. Nielsen, Jamie O. Edgin, Li Dai, Guido Gerig and Julie R. Korenberg

    Citation: Journal of Neurodevelopmental Disorders 2015 7:15

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  17. Content type: Erratum

    Citation: Journal of Neurodevelopmental Disorders 2015 7:16

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    The original article was published in Journal of Neurodevelopmental Disorders 2012 4:3

  18. Content type: Research

    In a recent study, Bejerot et al. observed that several physical features (including faces) of individuals with an autism spectrum disorder (ASD) were more androgynous than those of their typically developed coun...

    Authors: Syed Zulqarnain Gilani, Diana Weiting Tan, Suzanna N Russell-Smith, Murray T Maybery, Ajmal Mian, Peter R Eastwood, Faisal Shafait, Mithran Goonewardene and Andrew JO Whitehouse

    Citation: Journal of Neurodevelopmental Disorders 2015 7:14

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  19. Content type: Erratum

    Authors: Deborah A Hall, Rachael C Birch, Mathieu Anheim, Aia E Jønch, Elizabeth Pintado, Joan A O’Keefe, Julian N Trollor, Glenn T Stebbins, Randi J Hagerman, Stanley Fahn, Elizabeth Berry-Kravis and Maureen A Leehey

    Citation: Journal of Neurodevelopmental Disorders 2015 7:13

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    The original article was published in Journal of Neurodevelopmental Disorders 2014 6:31

  20. Content type: Research

    Previous research has found accumulating evidence for atypical reward processing in autism spectrum disorders (ASD), particularly in the context of social rewards. Yet, this line of research has focused largel...

    Authors: Cara R Damiano, Dillon C Cockrell, Kaitlyn Dunlap, Eleanor K Hanna, Stephanie Miller, Joshua Bizzell, Megan Kovac, Lauren Turner-Brown, John Sideris, Jessica Kinard and Gabriel S Dichter

    Citation: Journal of Neurodevelopmental Disorders 2015 7:12

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  21. Content type: Research

    The aim was to gain a UK national sample of people with Rett syndrome (RTT) across the age range and compare their characteristics using a variety of relevant behavioural measures with a well-chosen contrast g...

    Authors: Rina Cianfaglione, Angus Clarke, Michael Kerr, Richard P Hastings, Chris Oliver, Jo Moss, Mary Heald and David Felce

    Citation: Journal of Neurodevelopmental Disorders 2015 7:11

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  22. Content type: Research

    Alcohol-related neurodevelopmental disorder (ARND) falls under the umbrella of fetal alcohol spectrum disorder (FASD). Diagnosis of ARND is difficult because individuals do not demonstrate the characteristic f...

    Authors: Carrie R O’Conaill, Krisztina L Malisza, Joan L Buss, R Bruce Bolster, Christine Clancy, Patricia Dreessen de Gervai, Albert E Chudley and Sally Longstaffe

    Citation: Journal of Neurodevelopmental Disorders 2015 7:10

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  23. Content type: Research

    Relative to other aspects of Down syndrome, remarkably little is known about the psychiatric problems experienced by youth and young adults with this syndrome and if these problems differ from others with inte...

    Authors: Elisabeth M Dykens, Bhavik Shah, Bruce Davis, Courtney Baker, Taylor Fife and Jeri Fitzpatrick

    Citation: Journal of Neurodevelopmental Disorders 2015 7:9

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  24. Content type: Research

    Rare pathogenic variants in membrane-associated guanylate kinase (MAGUK) genes cause intellectual disability (ID) and have recently been associated with neuropsychiatric risk in the non-ID population. However,...

    Authors: Kate Baker, Gaia Scerif, Duncan E Astle, Paul C Fletcher and F Lucy Raymond

    Citation: Journal of Neurodevelopmental Disorders 2015 7:8

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  25. Content type: Research

    New competencies may be learned through active experience (learning by doing) or observation of others’ experience (learning by observation). Observing another person performing a complex action accelerates th...

    Authors: Francesca Foti, Deny Menghini, Enzo Orlandi, Cristina Rufini, Antonino Crinò, Sabrina Spera, Stefano Vicari, Laura Petrosini and Laura Mandolesi

    Citation: Journal of Neurodevelopmental Disorders 2015 7:6

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  26. Content type: Research

    Prevalence estimates of autism spectrum disorder (ASD) in Down syndrome (DS) are highly varied. This variation is partly due to the difficulty of screening for and diagnosing comorbid ASD in individuals with a...

    Authors: Marie Moore Channell, B Allyson Phillips, Susan J Loveall, Frances A Conners, Paige M Bussanich and Laura Grofer Klinger

    Citation: Journal of Neurodevelopmental Disorders 2015 7:5

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  27. Content type: Research

    In humans, in utero exposure to ionising radiation results in an increased prevalence of neurological aberrations, such as small head size, mental retardation and decreased IQ levels. Yet, the association between...

    Authors: Tine Verreet, Roel Quintens, Debby Van Dam, Mieke Verslegers, Mirella Tanori, Arianna Casciati, Mieke Neefs, Liselotte Leysen, Arlette Michaux, Ann Janssen, Emiliano D’Agostino, Greetje Vande Velde, Sarah Baatout, Lieve Moons, Simonetta Pazzaglia, Anna Saran…

    Citation: Journal of Neurodevelopmental Disorders 2015 7:3

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  28. Content type: Research

    Individuals with the CDKL5 disorder have been described as having severely impaired development. A few individuals have been reported having attained more milestones including walking and running. Our aim was ...

    Authors: Stephanie Fehr, Helen Leonard, Gladys Ho, Simon Williams, Nick de Klerk, David Forbes, John Christodoulou and Jenny Downs

    Citation: Journal of Neurodevelopmental Disorders 2015 7:2

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  29. Content type: Research

    22q11.2 deletion syndrome (22q11DS, velo-cardio-facial syndrome [VCFS]) is a genetic disorder associated with interstitial deletions of chromosome 22q11.2. In addition to high rates of neuropsychiatric disorde...

    Authors: Rayna Azuma, Quinton Deeley, Linda E Campbell, Eileen M Daly, Vincent Giampietro, Michael J Brammer, Kieran C Murphy and Declan GM Murphy

    Citation: Journal of Neurodevelopmental Disorders 2015 7:1

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  30. Content type: Research

    Mucopolysaccharidosis type-III (MPS III) is an autosomal recessive lysosomal storage disorder. It causes progressive physical and cognitive decline and has been linked to increased incidences of behavioural pr...

    Authors: Elaine M Cross, Sheena Grant, Simon Jones, Brian W Bigger, James E Wraith, Louise V Mahon, Michelle Lomax and Dougal J Hare

    Citation: Journal of Neurodevelopmental Disorders 2014 6:46

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  31. Content type: Research

    Fragile X premutation carriers (fXPCs) have an expansion of 55–200 CGG repeats in the FMR1 gene. Male fXPCs are at risk for developing a neurodegenerative motor disorder (fragile X-associated tremor/ataxia syndro...

    Authors: Ling M Wong, Naomi J Goodrich-Hunsaker, Yingratana A McLennan, Flora Tassone, Susan M Rivera and Tony J Simon

    Citation: Journal of Neurodevelopmental Disorders 2014 6:45

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  32. Content type: Review

    Although there is evidence that significant sleep problems are common in children with autism spectrum disorder (ASD) and that poor sleep exacerbates problematic daytime behavior, such relationships have recei...

    Authors: Simonne Cohen, Russell Conduit, Steven W Lockley, Shantha MW Rajaratnam and Kim M Cornish

    Citation: Journal of Neurodevelopmental Disorders 2014 6:44

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  33. Content type: Research

    Atypical neural responses to repeated auditory and linguistic stimuli have been reported both in individuals with autism spectrum disorder (ASD) and their first-degree relatives. Recent work suggests that the ...

    Authors: Anne Seery, Helen Tager-Flusberg and Charles A Nelson

    Citation: Journal of Neurodevelopmental Disorders 2014 6:43

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  34. Content type: Research

    Down syndrome (DS), or trisomy 21, is one of the most common autosomal mutations. People with DS have intellectual disability (ID) and are at significantly increased risk of developing Alzheimer’s disease (AD)...

    Authors: Giles MY Tan, Felix Beacher, Eileen Daly, Jamie Horder, Verinder Prasher, Maria-Luisa Hanney, Robin Morris, Simon Lovestone, Kieran C Murphy, Andrew Simmons and Declan GM Murphy

    Citation: Journal of Neurodevelopmental Disorders 2014 6:42

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  35. Content type: Review

    Social (pragmatic) communication disorder (SCD) is a new diagnostic category in the Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-5). The purpose of this review is to describe and s...

    Authors: Lauren B Swineford, Audrey Thurm, Gillian Baird, Amy M Wetherby and Susan Swedo

    Citation: Journal of Neurodevelopmental Disorders 2014 6:41

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  36. Content type: Research

    It has been previously reported that structural and functional brain connectivity in individuals with autism spectrum disorders (ASD) is atypical and may vary with age. However, to date, no measures of functio...

    Authors: Elena V Orekhova, Mayada Elsabbagh, Emily JH Jones, Geraldine Dawson, Tony Charman and Mark H Johnson

    Citation: Journal of Neurodevelopmental Disorders 2014 6:40

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  37. Content type: Review

    Autism spectrum disorder (ASD) and intellectual disability (ID) can be caused by mutations in a large number of genes. One example is SHANK3 on the terminal end of chromosome 22q. Loss of one functional copy of S...

    Authors: Alexander Kolevzon, Benjamin Angarita, Lauren Bush, A Ting Wang, Yitzchak Frank, Amy Yang, Robert Rapaport, Jeffrey Saland, Shubhika Srivastava, Cristina Farrell, Lisa J Edelmann and Joseph D Buxbaum

    Citation: Journal of Neurodevelopmental Disorders 2014 6:39

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  38. Content type: Research

    22q11.2 deletion syndrome (22q11DS) is associated with a number of physical anomalies and neuropsychological deficits including impairments in executive and sensorimotor function. It is estimated that 25% of c...

    Authors: Kathryn Louise McCabe, Rebbekah Josephine Atkinson, Gavin Cooper, Jessica Lauren Melville, Jill Harris, Ulrich Schall, Carmel Maree Loughland, Renate Thienel and Linda Elisabet Campbell

    Citation: Journal of Neurodevelopmental Disorders 2014 6:38

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  39. Content type: Research

    Visuospatial processing has been found to be mediated primarily by two cortical routes, one of which is unique to recognizing objects (occipital-temporal, ventral or “what” pathway) and the other to detecting ...

    Authors: Thomas P DeRamus, Briley S Black, Mark R Pennick and Rajesh K Kana

    Citation: Journal of Neurodevelopmental Disorders 2014 6:37

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  40. Content type: Research

    Intimate embryo-maternal interaction is paramount for pregnancy success post-implantation. The embryo follows a specific developmental timeline starting with neural system, dependent on endogenous and decidual...

    Authors: Christina M Duzyj, Michael J Paidas, Lellean Jebailey, Jing Shun Huang and Eytan R Barnea

    Citation: Journal of Neurodevelopmental Disorders 2014 6:36

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  41. Content type: Research

    Children with autism spectrum disorder (ASD) show impairment in reciprocal social communication, which includes deficits in social cognition and behavior. Since social cognition and social behavior are conside...

    Authors: Blythe A Corbett, Cassandra Newsom, Alexandra P Key, Lydia R Qualls and E Kale Edmiston

    Citation: Journal of Neurodevelopmental Disorders 2014 6:35

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  42. Content type: Research

    Autism spectrum disorders (ASDs) are a group of neurodevelopmental conditions with a demonstrated genetic etiology. Rare (<1% frequency) copy number variations (CNVs) account for a proportion of the genetic ev...

    Authors: Matthew J Gazzellone, Xue Zhou, Anath C Lionel, Mohammed Uddin, Bhooma Thiruvahindrapuram, Shuang Liang, Caihong Sun, Jia Wang, Mingyang Zou, Kristiina Tammimies, Susan Walker, Thanuja Selvanayagam, John Wei, Zhuozhi Wang, Lijie Wu and Stephen W Scherer

    Citation: Journal of Neurodevelopmental Disorders 2014 6:34

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  43. Content type: Research

    Individuals with autism spectrum disorder (ASD) and their parents demonstrate impaired performance in rapid automatized naming (RAN), a task that recruits a variety of linguistic and executive processes. Thoug...

    Authors: Abigail L Hogan-Brown, Renske S Hoedemaker, Peter C Gordon and Molly Losh

    Citation: Journal of Neurodevelopmental Disorders 2014 6:33

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  44. Content type: Research

    Impaired social functioning is a common symptom of individuals with developmental disruptions in callosal connectivity. Among these developmental conditions, agenesis of the corpus callosum provides the most e...

    Authors: Matthew W Bridgman, Warren S Brown, Michael L Spezio, Matthew K Leonard, Ralph Adolphs and Lynn K Paul

    Citation: Journal of Neurodevelopmental Disorders 2014 6:32

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  45. Content type: Review

    Fragile X-associated primary ovarian insufficiency (FXPOI) is among the family of disorders caused by the expansion of a CGG repeat sequence in the 5' untranslated region of the X-linked gene FMR1. About 20% of w...

    Authors: Stephanie L Sherman, Eliza C Curnow, Charles A Easley, Peng Jin, Renate K Hukema, Maria Isabel Tejada, Rob Willemsen and Karen Usdin

    Citation: Journal of Neurodevelopmental Disorders 2014 6:26

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  46. Content type: Editorial

    Whereas full mutation CGG-repeat expansions (>200 repeats) of the fragile X gene (FMR1) give rise to the neurodevelopmental disorder, fragile X syndrome (FXS); smaller, ‘premutation’ expansions (55 to 200 repeats...

    Authors: Flora Tassone, Paul J Hagerman and Randi J Hagerman

    Citation: Journal of Neurodevelopmental Disorders 2014 6:22

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