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  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. Authors: Dorothy VM Bishop, Georgina Holt, Elizabeth Line, David McDonald, Sarah McDonald and Helen Watt
    Citation: Journal of Neurodevelopmental Disorders 2015 7:16

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

  8. 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
  9. 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

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

  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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
  16. 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
  17. 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
  18. 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
  19. 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
  20. 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
  21. 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
  22. 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
  23. 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
  24. 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
  25. 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
  26. 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
  27. 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
  28. 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
  29. 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
  30. 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
  31. 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
  32. 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
  33. 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
  34. 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
  35. 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
  36. This paper summarizes key emerging issues in fragile X-associated tremor/ataxia syndrome (FXTAS) as presented at the First International Conference on the FMR1 Premutation: Basic Mechanisms & Clinical Involvement...

    Authors: Deborah A Hall, Rachael C Birch, Mathieu Anheim, Aia E Jønch, Elizabeth Pintado, Joanne 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 2014 6:31

    The Erratum to this article has been published in Journal of Neurodevelopmental Disorders 2015 7:13

  37. Changes in the fragile X mental retardation 1 gene (FMR1) have been associated with specific phenotypes, most specifically those of fragile X syndrome (FXS), fragile X tremor/ataxia syndrome (FXTAS), and fragile ...

    Authors: Anne C Wheeler, Donald B Bailey Jr, Elizabeth Berry-Kravis, Jan Greenberg, Molly Losh, Marsha Mailick, Montserrat Milà, John M Olichney, Laia Rodriguez-Revenga, Stephanie Sherman, Leann Smith, Scott Summers, Jin-Chen Yang and Randi Hagerman
    Citation: Journal of Neurodevelopmental Disorders 2014 6:30
  38. The fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder affecting a subset of carriers of the FMR1 (fragile X mental retardation 1) premutation. Penetrance and expressio...

    Authors: Jim Grigsby, Kim Cornish, Darren Hocking, Claudine Kraan, John M Olichney, Susan M Rivera, Andrea Schneider, Stephanie Sherman, Jun Yi Wang and Jin-Chen Yang
    Citation: Journal of Neurodevelopmental Disorders 2014 6:28
  39. The FMR1 premutation is defined as having 55 to 200 CGG repeats in the 5′ untranslated region of the fragile X mental retardation 1 gene (FMR1). The clinical involvement has been well characterized for fragile X-...

    Authors: Reymundo Lozano, Randi J Hagerman, Michael Duyzend, Dejan B Budimirovic, Evan E Eichler and Flora Tassone
    Citation: Journal of Neurodevelopmental Disorders 2014 6:27
  40. Carriers of the fragile X premutation (FPM) have CGG trinucleotide repeat expansions of between 55 and 200 in the 5′-UTR of FMR1, compared to a CGG repeat length of between 5 and 54 for the general population. Ca...

    Authors: Robert F Berman, Ronald AM Buijsen, Karen Usdin, Elizabeth Pintado, Frank Kooy, Dalyir Pretto, Isaac N Pessah, David L Nelson, Zachary Zalewski, Nicholas Charlet-Bergeurand, Rob Willemsen and Renate K Hukema
    Citation: Journal of Neurodevelopmental Disorders 2014 6:25
  41. The presence of AGG interruptions in the CGG repeat locus of the fragile X mental retardation 1 (FMR1) gene decreases the instability of the allele during transmission from parent to child, and decreases the risk...

    Authors: Carolyn M Yrigollen, Loreto Martorell, Blythe Durbin-Johnson, Montserrat Naudo, Jordi Genoves, Alessandra Murgia, Roberta Polli, Lili Zhou, Deborah Barbouth, Abigail Rupchock, Brenda Finucane, Gary J Latham, Andrew Hadd, Elizabeth Berry-Kravis and Flora Tassone
    Citation: Journal of Neurodevelopmental Disorders 2014 6:24
  42. Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset inherited neurodegenerative disorder characterized by intentional tremor, gait ataxia, autonomic dysfunction, and cognitive decline. FXTAS ...

    Authors: Chantal Sellier, Karen Usdin, Chiara Pastori, Veronica J Peschansky, Flora Tassone and Nicolas Charlet-Berguerand
    Citation: Journal of Neurodevelopmental Disorders 2014 6:23
  43. 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
  44. Developmental disorders of oral and written language have been linked to deficits in the processing of auditory information. However, findings have been inconsistent, both for behavioural and electrophysiologi...

    Authors: Lorna F Halliday, Johanna G Barry, Mervyn J Hardiman and Dorothy VM Bishop
    Citation: Journal of Neurodevelopmental Disorders 2014 6:21
  45. Early development appears normal in Rett syndrome (OMIM #312750) and may be more apparent than real. A major purpose of the Rett Syndrome (RTT) Natural History Study (NHS) was to examine achievement of develop...

    Authors: Jeffrey L Neul, Jane B Lane, Hye-Seung Lee, Suzanne Geerts, Judy O Barrish, Fran Annese, Lauren McNair Baggett, Katherine Barnes, Steven A Skinner, Kathleen J Motil, Daniel G Glaze, Walter E Kaufmann and Alan K Percy
    Citation: Journal of Neurodevelopmental Disorders 2014 6:20
  46. Research on the neural bases of cognitive deficits in autism spectrum disorder (ASD) has shown that working memory (WM) difficulties are associated with abnormalities in the prefrontal cortex. However, cogniti...

    Authors: Vanessa M Vogan, Benjamin R Morgan, Wayne Lee, Tamara L Powell, Mary Lou Smith and Margot J Taylor
    Citation: Journal of Neurodevelopmental Disorders 2014 6:19

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