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  1. Content type: Review

    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

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

  2. Content type: Review

    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

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  3. Content type: Review

    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

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  4. Content type: Research

    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

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  5. Content type: Review

    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

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  6. Content type: Research

    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

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  7. Content type: Review

    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

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  8. Content type: Research

    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

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  9. Content type: Research

    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

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  10. Content type: Research

    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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  11. Content type: Research

    Williams syndrome (WS) is a rare neurodevelopmental disorder arising from a hemizygotic deletion of approximately 27 genes on chromosome 7, at locus 7q11.23. WS is characterised by an uneven cognitive profile,...

    Authors: Hannah Broadbent, Emily K Farran, Esther Chin, Kay Metcalfe, May Tassabehji, Peter Turnpenny, Francis Sansbury, Emma Meaburn and Annette Karmiloff-Smith

    Citation: Journal of Neurodevelopmental Disorders 2014 6:18

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  12. Content type: Research

    Autism spectrum disorder (ASD) is a highly heritable, neurodevelopmental condition showing extreme genetic heterogeneity. While it is well established that rare genetic variation, both de novo and inherited, play...

    Authors: Elena Bacchelli, Fabiola Ceroni, Dalila Pinto, Silvia Lomartire, Maila Giannandrea, Patrizia D'Adamo, Elena Bonora, Piero Parchi, Raffaella Tancredi, Agatino Battaglia and Elena Maestrini

    Citation: Journal of Neurodevelopmental Disorders 2014 6:17

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  13. Content type: New method

    Intellectual disability (ID) is characterized by global cognitive deficits, yet the very IQ tests used to assess ID have limited range and precision in this population, especially for more impaired individuals.

    Authors: Stephanie M Sansone, Andrea Schneider, Erika Bickel, Elizabeth Berry-Kravis, Christina Prescott and David Hessl

    Citation: Journal of Neurodevelopmental Disorders 2014 6:16

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  14. Content type: Research

    Gaze processing deficits are a seminal, early, and enduring behavioral deficit in autism spectrum disorder (ASD); however, a comprehensive characterization of the neural processes mediating abnormal gaze proce...

    Authors: Renée Lajiness-O’Neill, Annette E Richard, John E Moran, Amy Olszewski, Lesley Pawluk, Daniel Jacobson, Alfred Mansour, Kelly Vogt, Laszlo A Erdodi, Aimee M Moore and Susan M Bowyer

    Citation: Journal of Neurodevelopmental Disorders 2014 6:15

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  15. Content type: Research

    Individuals with autism are often reported to have difficulty with emotion processing. However, clinical and experimental data show that they are sensitive to familiarity; for example, they show normative atta...

    Authors: Heather J Nuske, Giacomo Vivanti and Cheryl Dissanayake

    Citation: Journal of Neurodevelopmental Disorders 2014 6:14

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  16. Content type: Meeting report

    Christianson syndrome (CS) is an X-linked neurodevelopmental disorder caused by deleterious mutations in SLC9A6. Affected families organized the inaugural Christianson Syndrome Association conference to advance C...

    Authors: David M Stein, Alan Gerber and Eric M Morrow

    Citation: Journal of Neurodevelopmental Disorders 2014 6:13

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  17. Content type: Research

    It is commonly reported that children with autism spectrum disorder (ASD) exhibit hyper-reactivity or hypo-reactivity to sensory stimuli. Electroencephalography (EEG) is commonly used to study neural sensory r...

    Authors: Justin Eldridge, Alison E Lane, Mikhail Belkin and Simon Dennis

    Citation: Journal of Neurodevelopmental Disorders 2014 6:12

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  18. Content type: Research

    Children with early symptomatic psychiatric disorders such as Attention-Deficit/Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD) have been found to have high rates of motor and/or perception di...

    Authors: Peik Gustafsson, Nóra Kerekes, Henrik Anckarsäter, Paul Lichtenstein, Christopher Gillberg and Maria Råstam

    Citation: Journal of Neurodevelopmental Disorders 2014 6:11

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  19. Content type: Research

    Research reporting prevalence rates of self-injurious and aggressive behaviour in people with tuberous sclerosis complex (TSC) is limited. No studies have compared rates of these behaviours in TSC with those i...

    Authors: Kate E Eden, Petrus J de Vries, Jo Moss, Caroline Richards and Chris Oliver

    Citation: Journal of Neurodevelopmental Disorders 2014 6:10

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  20. Content type: Research

    The chromodomain helicase DNA binding domain (CHD) proteins modulate gene expression via their ability to remodel chromatin structure and influence histone acetylation. Recent studies have shown that CHD2 prot...

    Authors: Sébastien Chénier, Grace Yoon, Bob Argiropoulos, Julie Lauzon, Rachel Laframboise, Joo Wook Ahn, Caroline Mackie Ogilvie, Anath C Lionel, Christian R Marshall, Andrea K Vaags, Bita Hashemi, Karine Boisvert, Géraldine Mathonnet, Frédérique Tihy, Joyce So, Stephen W Scherer…

    Citation: Journal of Neurodevelopmental Disorders 2014 6:9

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  21. Content type: Research

    Individuals with Down Syndrome (DS) are reported to experience early onset of brain aging. However, it is not well understood how pre-existing neurodevelopmental effects versus neurodegenerative processes migh...

    Authors: Mary Ellen I Koran, Timothy J Hohman, Courtney M Edwards, Jennifer N Vega, Jennifer R Pryweller, Laura E Slosky, Genea Crockett, Lynette Villa de Rey, Shashwath A Meda, Nathan Dankner, Suzanne N Avery, Jennifer U Blackford, Elisabeth M Dykens and Tricia A Thornton-Wells

    Citation: Journal of Neurodevelopmental Disorders 2014 6:8

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  22. Content type: Research

    During the neurodevelopmental period, the brain is potentially more susceptible to environmental exposure to pollutants. The aim was to determine if neonatal exposure to permethrin (PERM) pesticide, at a low d...

    Authors: Cinzia Nasuti, Patrizia Fattoretti, Manuel Carloni, Donatella Fedeli, Massimo Ubaldi, Roberto Ciccocioppo and Rosita Gabbianelli

    Citation: Journal of Neurodevelopmental Disorders 2014 6:7

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  23. Content type: Research

    Autism and the fragile X syndrome (FXS) are related to each other genetically and symptomatically. A cardinal biological feature of both disorders is abnormalities of cerebral cortical brain volumes. We have p...

    Authors: Thomas H Wassink, Heather C Hazlett, Lea K Davis, Allan L Reiss and Joseph Piven

    Citation: Journal of Neurodevelopmental Disorders 2014 6:6

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  24. Content type: Research

    Chromosome 22q11.2 deletion syndrome (22q11.2DS), fragile X syndrome (FXS), and Turner syndrome (TS) are complex and variable developmental syndromes caused by different genetic abnormalities; yet, they share ...

    Authors: Andrea I Quintero, Elliott A Beaton, Danielle J Harvey, Judith L Ross and Tony J Simon

    Citation: Journal of Neurodevelopmental Disorders 2014 6:5

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  25. Content type: Research

    Neurofibromatosis type 1 (NF1) affects several areas of cognitive function including visual processing and attention. We investigated the neural mechanisms underlying the visual deficits of children and adoles...

    Authors: Maria J Ribeiro, Otília C d’Almeida, Fabiana Ramos, Jorge Saraiva, Eduardo D Silva and Miguel Castelo-Branco

    Citation: Journal of Neurodevelopmental Disorders 2014 6:4

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  26. Content type: Research

    22q11.2 deletion syndrome (22q11.2DS) is a common neurogenetic syndrome associated with high rates of psychosis. The aims of the present study were to identify the unique temperament traits that characterize c...

    Authors: Yael Schonherz, Maayan Davidov, Ariel Knafo, Hadas Zilkha, Gal Shoval, Gil Zalsman, Amos Frisch, Abraham Weizman and Doron Gothelf

    Citation: Journal of Neurodevelopmental Disorders 2014 6:3

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  27. Content type: Research

    Human leukocyte antigen (HLA) loci have been implicated in several neurodevelopmental disorders in which language is affected. However, to date, no studies have investigated the possible involvement of HLA loc...

    Authors: Ron Nudel, Nuala H Simpson, Gillian Baird, Anne O’Hare, Gina Conti-Ramsden, Patrick F Bolton, Elizabeth R Hennessy, Anthony P Monaco, Julian C Knight, Bruce Winney, Simon E Fisher and Dianne F Newbury

    Citation: Journal of Neurodevelopmental Disorders 2014 6:1

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  28. Content type: Research

    Prader–Willi syndrome (PWS) is a complex neurogenetic disorder with symptoms that indicate not only hypothalamic, but also a global, central nervous system (CNS) dysfunction. However, little is known about dev...

    Authors: Akvile Lukoshe, Tonya White, Marcus N Schmidt, Aad van der Lugt and Anita C Hokken-Koelega

    Citation: Journal of Neurodevelopmental Disorders 2013 5:31

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  29. Content type: Research

    Efforts to uncover the risk genotypes associated with the familial nature of autism spectrum disorder (ASD) have had limited success. The study of extended pedigrees, incorporating additional ASD-related pheno...

    Authors: Joseph Piven, Veronica J Vieland, Morgan Parlier, Ann Thompson, Irene O’Conner, Mark Woodbury-Smith, Yungui Huang, Kimberly A Walters, Bridget Fernandez and Peter Szatmari

    Citation: Journal of Neurodevelopmental Disorders 2013 5:30

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  30. Content type: Research

    Childhood apraxia of speech (CAS) is a rare, severe, persistent pediatric motor speech disorder with associated deficits in sensorimotor, cognitive, language, learning and affective processes. Among other neur...

    Authors: Elizabeth A Worthey, Gordana Raca, Jennifer J Laffin, Brandon M Wilk, Jeremy M Harris, Kathy J Jakielski, David P Dimmock, Edythe A Strand and Lawrence D Shriberg

    Citation: Journal of Neurodevelopmental Disorders 2013 5:29

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  31. Content type: Review

    Eye tracking has the potential to characterize autism at a unique intermediate level, with links ‘down’ to underlying neurocognitive networks, as well as ‘up’ to everyday function and dysfunction. Because it i...

    Authors: Terje Falck-Ytter, Sven Bölte and Gustaf Gredebäck

    Citation: Journal of Neurodevelopmental Disorders 2013 5:28

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  32. Content type: Research

    Originally described as a disorder of childhood, evidence now demonstrates the lifelong nature of autism spectrum disorder (ASD). Despite the increase of the population over age 65, older adults with ASD remai...

    Authors: Dmitry Kats, Leslie Payne, Morgan Parlier and Joseph Piven

    Citation: Journal of Neurodevelopmental Disorders 2013 5:27

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  33. Content type: Research

    Broad autism phenotype (BAP) is a milder expression of the social and communication impairments seen in autism spectrum disorders (ASD). While prior studies characterized the BAP in unaffected family members o...

    Authors: Christina R Maxwell, Julia Parish-Morris, Olivia Hsin, Jennifer C Bush and Robert T Schultz

    Citation: Journal of Neurodevelopmental Disorders 2013 5:25

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  34. Content type: Review

    Autism spectrum disorders (ASD) are a group of complex and heterogeneous developmental disorders involving multiple neural system dysfunctions. In an effort to understand neurophysiological substrates, identif...

    Authors: Jun Wang, Jamie Barstein, Lauren E Ethridge, Matthew W Mosconi, Yukari Takarae and John A Sweeney

    Citation: Journal of Neurodevelopmental Disorders 2013 5:24

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  35. Content type: Research

    Fragile X syndrome is caused by the loss of FMRP expression due to methylation of the FMR1 promoter. Treatment of fragile X syndrome patients’ lymphoblastoid cells with 5-azadeoxycytidine results in demethylation...

    Authors: Cornelia Brendel, Benjamin Mielke, Merle Hillebrand, Jutta Gärtner and Peter Huppke

    Citation: Journal of Neurodevelopmental Disorders 2013 5:23

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  36. Content type: Research

    Intracranial arachnoid cysts have been shown to yield cognitive impairment over a range of basic mental functions, and these functions normalize after surgical cyst decompression. We wanted to investigate whet...

    Authors: Priyanthi B Gjerde, Marit Schmid, Åsa Hammar and Knut Wester

    Citation: Journal of Neurodevelopmental Disorders 2013 5:21

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  37. Content type: Research

    The profile of cognitive and behavioral variation observed in individuals with fragile X syndrome (FXS), the most common known cause of inherited intellectual impairment, suggests aberrant functioning of speci...

    Authors: Jennifer Lynn Bruno, Elizabeth Walter Shelly, Eve-Marie Quintin, Maryam Rostami, Sweta Patnaik, Daniel Spielman, Dirk Mayer, Meng Gu, Amy A Lightbody and Allan L Reiss

    Citation: Journal of Neurodevelopmental Disorders 2013 5:20

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  38. Content type: Research

    Down’s syndrome (DS) is the most common genetic cause of intellectual disability. People with DS are at an increased risk of Alzheimer’s disease (AD) compared to the general population. Neuroimaging studies of...

    Authors: Diane Mullins, Eileen Daly, Andrew Simmons, Felix Beacher, Catherine ML Foy, Simon Lovestone, Brian Hallahan, Kieran C Murphy and Declan G Murphy

    Citation: Journal of Neurodevelopmental Disorders 2013 5:19

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  39. Content type: Research

    Maladaptive behavior has been reported as a phenotypical feature in Prader–Willi syndrome (PWS). It severely limits social adaptation and the quality of life of children and adults with the syndrome. Different...

    Authors: Joseba Jauregi, Virginie Laurier, Pierre Copet, Maithé Tauber and Denise Thuilleaux

    Citation: Journal of Neurodevelopmental Disorders 2013 5:18

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  40. Content type: Research

    Adverse intrauterine circumstances can result in abnormal brain development, and can contribute to many neurological disorders such as cerebral palsy and cognitive and behavioral deficits. These neurological p...

    Authors: Keumyoung So, Yoonyoung Chung, Hyunyoung Lee, Eunyoung Kim and Yonghyun Jeon

    Citation: Journal of Neurodevelopmental Disorders 2013 5:17

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  41. Content type: Research

    The dimensional approach to autism spectrum disorder (ASD) considers ASD as the extreme of a dimension traversing through the entire population. We explored the potential utility of electroencephalography (EEG...

    Authors: Pablo Barttfeld, Lucía Amoruso, Joaquín Ais, Sebastián Cukier, Luz Bavassi, Ailin Tomio, Facundo Manes, Agustín Ibanez and Mariano Sigman

    Citation: Journal of Neurodevelopmental Disorders 2013 5:16

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  42. Content type: Research

    Several proteins involved in epigenetic regulation cause syndromic neurodevelopmental disorders when human genes are mutated. More general involvement of epigenetic mechanisms in neurodevelopmental phenotypes ...

    Authors: Kimberly A Aldinger, Jasmine T Plummer and Pat Levitt

    Citation: Journal of Neurodevelopmental Disorders 2013 5:15

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  43. Content type: Review

    Working memory is a temporary storage system under attentional control. It is believed to play a central role in online processing of complex cognitive information and may also play a role in social cognition ...

    Authors: Evelien M Barendse, Marc PH Hendriks, Jacobus FA Jansen, Walter H Backes, Paul AM Hofman, Geert Thoonen, Roy PC Kessels and Albert P Aldenkamp

    Citation: Journal of Neurodevelopmental Disorders 2013 5:14

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  44. Content type: Research

    From a young age the typical development of social functioning relies upon the allocation of attention to socially relevant information, which in turn allows experience at processing such information and thus ...

    Authors: Deborah M Riby, Peter JB Hancock, Nicola Jones and Mary Hanley

    Citation: Journal of Neurodevelopmental Disorders 2013 5:13

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  45. Content type: Research

    Features of the Broad Autism Phenotype (BAP) are disproportionately prevalent in parents of a child with autism, highlighting familial patterns indicative of heritability. It is unclear, however, whether the p...

    Authors: Noah J Sasson, Kristen SL Lam, Morgan Parlier, Julie L Daniels and Joseph Piven

    Citation: Journal of Neurodevelopmental Disorders 2013 5:11

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