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  1. 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

    Content type: Research

    Published on:

  3. 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

    Content type: Research

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  5. 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

    Content type: Research

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  6. 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

    Content type: Research

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  7. 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

    Content type: Research

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  8. 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

    Content type: Research

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  9. 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

    Content type: Research

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  10. 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

    Content type: Research

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  11. 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

    Content type: Review

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  12. 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

    Content type: Research

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  13. 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

    Content type: Research

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  14. 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

    Content type: Review

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  15. 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

    Content type: Research

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  16. 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

    Content type: Review

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  17. 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

    Content type: Research

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  18. 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

    Content type: Research

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  19. 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

    Content type: Research

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  20. 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

    Content type: Research

    Published on:

  21. 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

    Content type: Research

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  22. 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

    Content type: Research

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  23. 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

    Content type: Research

    Published on:

  24. 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

    Content type: Review

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  25. 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

    Content type: Review

    Published on:

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

  26. 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

    Content type: Review

    Published on:

  28. 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

    Content type: Review

    Published on:

  29. 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

    Content type: Research

    Published on:

  30. 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

    Content type: Review

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  31. 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

    Content type: Research

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  32. 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

    Content type: Review

    Published on:

  33. 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

    Content type: Editorial

    Published on:

  34. 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

    Content type: Research

    Published on:

  35. 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

    Content type: Research

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  36. 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

    Content type: Research

    Published on:

  37. 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

    Content type: Research

    Published on:

  38. 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

    Content type: Research

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  39. 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

    Content type: New method

    Published on:

  40. 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

    Content type: Research

    Published on:

  41. 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

    Content type: Research

    Published on:

  42. 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

    Content type: Meeting report

    Published on:

  43. 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

    Content type: Research

    Published on:

  44. 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

    Content type: Research

    Published on:

  45. 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

    Content type: Research

    Published on:

  46. 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

    Content type: Research

    Published on:

  47. 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

    Content type: Research

    Published on:

  48. 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

    Content type: Research

    Published on:

  49. 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

    Content type: Research

    Published on:

  50. 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

    Content type: Research

    Published on:

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Journal of Neurodevelopmental Disorders

ISSN: 1866-1955

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