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  1. Content type: Research

    Fragile X syndrome (FXS) is caused by a mutation in the FMR1 gene on the X chromosome, leading to decreased levels of FMR1 protein (FMRP), which causes the array of neuropsychological impairments that define FXS....

    Authors: Laura del Hoyo Soriano, Angela John Thurman, Danielle Jenine Harvey, W. Ted Brown and Leonard Abbeduto

    Citation: Journal of Neurodevelopmental Disorders 2018 10:22

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  2. Content type: Research

    Gene mutations within the RAS-MAPK signaling cascade result in Noonan syndrome (NS), neurofibromatosis type 1 (NF1), and related disorders. Recent research has documented an increased risk for social difficult...

    Authors: Elizabeth I. Pierpont, Rebekah L. Hudock, Allison M. Foy, Margaret Semrud-Clikeman, Mary Ella Pierpont, Susan A. Berry, Ryan Shanley, Nathan Rubin, Katherine Sommer and Christopher L. Moertel

    Citation: Journal of Neurodevelopmental Disorders 2018 10:21

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  3. Content type: Research

    Although several genetic variants for autism spectrum disorder (ASD) have now been identified, these largely occur sporadically or are de novo. Much less progress has been made in identifying inherited variant...

    Authors: Marc Woodbury-Smith, Andrew D. Paterson, Irene O’Connor, Mehdi Zarrei, Ryan K. C. Yuen, Jennifer L Howe, Ann Thompson, Morgan Parlier, Bridget Fernandez, Joseph Piven, Stephen W. Scherer, Veronica Vieland and Peter Szatmari

    Citation: Journal of Neurodevelopmental Disorders 2018 10:20

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  4. Content type: Research

    Autism spectrum disorder (ASD) is a pervasive neurodevelopmental disorder characterised by diminished social reciprocity and communication skills and the presence of stereotyped and restricted behaviours. Exec...

    Authors: Vanessa M. Vogan, Kaitlyn E. Francis, Benjamin R. Morgan, Mary Lou Smith and Margot J. Taylor

    Citation: Journal of Neurodevelopmental Disorders 2018 10:19

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  5. Content type: Research

    Genetic studies in autism have pinpointed a heterogeneous group of loci and genes. Further, environment may be an additional factor conferring susceptibility to autism. Transcriptome studies investigate quanti...

    Authors: Matthew Schwede, Shailender Nagpal, Michael J. Gandal, Neelroop N. Parikshak, Karoly Mirnics, Daniel H. Geschwind and Eric M. Morrow

    Citation: Journal of Neurodevelopmental Disorders 2018 10:18

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  6. Content type: Case report

    Dystonia-deafness syndrome is a well-known clinical entity, with sensorineural deafness typically manifesting earlier than dystonia. ACTB p.Arg183Trp heterozygosity has been reported in six patients to cause comb...

    Authors: Inger Marie Skogseid, Oddveig Røsby, Ane Konglund, James P. Connelly, Bård Nedregaard, Greg Eigner Jablonski, Nadja Kvernmo, Asbjørg Stray-Pedersen and Joel C. Glover

    Citation: Journal of Neurodevelopmental Disorders 2018 10:17

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  7. Content type: Review

    Neurodevelopmental disorders, as a class of diseases, have been particularly difficult to treat even when the underlying cause(s), such as genetic alterations, are understood. What treatments do exist are gene...

    Authors: Erik Allen Lykken, Charles Shyng, Reginald James Edwards, Alejandra Rozenberg and Steven James Gray

    Citation: Journal of Neurodevelopmental Disorders 2018 10:16

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  8. Content type: Research

    Mutations in the SHANK genes, which encode postsynaptic scaffolding proteins, have been linked to a spectrum of neurodevelopmental disorders. The SHANK genes and the schizophrenia-associated microRNA-137 show con...

    Authors: Ana de Sena Cortabitarte, Simone Berkel, Flavia-Bianca Cristian, Christine Fischer and Gudrun A. Rappold

    Citation: Journal of Neurodevelopmental Disorders 2018 10:15

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  9. Content type: Research

    A growing body of research suggests that fine motor abilities are associated with skills in a variety of domains in both typical and atypical development. In this study, we investigated developmental trajector...

    Authors: Boin Choi, Kathryn A. Leech, Helen Tager-Flusberg and Charles A. Nelson

    Citation: Journal of Neurodevelopmental Disorders 2018 10:14

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  10. Content type: Research

    Social impairments are described as a common feature of the 22q11.2 deletion syndrome (22q11DS). However, the neural correlates underlying these impairments are largely unknown in this population. In this stud...

    Authors: Lydia Dubourg, Pascal Vrticka, Martin Debbané, Léa Chambaz, Stephan Eliez and Maude Schneider

    Citation: Journal of Neurodevelopmental Disorders 2018 10:13

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  11. Content type: Research

    Intranasal oxytocin (OT) has been shown to improve social communication functioning of individuals with autism spectrum disorder (ASD) and, thus, has received considerable interest as a potential ASD therapeut...

    Authors: R. K. Greene, M. Spanos, C. Alderman, E. Walsh, J. Bizzell, M. G. Mosner, J. L. Kinard, G. D. Stuber, T. Chandrasekhar, L. C. Politte, L. Sikich and G. S. Dichter

    Citation: Journal of Neurodevelopmental Disorders 2018 10:12

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  12. Content type: Research

    Neurofibromatosis type1 (NF1) is associated with a broad range of behavioural deficits, and an imbalance between excitatory and inhibitory neurotransmission has been postulated in this disorder. Inhibition is ...

    Authors: Gilberto Silva, Isabel Catarina Duarte, Inês Bernardino, Tânia Marques, Inês R. Violante and Miguel Castelo-Branco

    Citation: Journal of Neurodevelopmental Disorders 2018 10:11

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  13. Content type: Research

    Autism spectrum disorder (ASD) in epilepsy has been a topic of increasing interest, which in general occurs in 15–35% of the patients with epilepsy, more frequently in those with intellectual disability (ID). ...

    Authors: Na He, Bing-Mei Li, Zhao-Xia Li, Jie Wang, Xiao-Rong Liu, Heng Meng, Bin Tang, Wen-Jun Bian, Yi-Wu Shi and Wei-Ping Liao

    Citation: Journal of Neurodevelopmental Disorders 2018 10:10

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  14. Content type: Research

    Sleep disturbance is common in children with neurodevelopmental disorders, with high rates identified in children with Smith-Magenis syndrome (SMS), Angelman syndrome (AS), autism spectrum disorder (ASD) and t...

    Authors: J. Trickett, M. Heald, C. Oliver and C. Richards

    Citation: Journal of Neurodevelopmental Disorders 2018 10:9

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  15. Content type: Research

    Although aberrant visual attention has been identified in infants at high familial risk for autism, the developmental emergence of atypical attention remains unclear. Integrating biological measures of attenti...

    Authors: Bridgette L. Tonnsen, John E. Richards and Jane E. Roberts

    Citation: Journal of Neurodevelopmental Disorders 2018 10:7

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  16. Content type: Review

    Pathologic mutations in SYNGAP1 cause a genetically defined form of intellectual disability (ID) with comorbid epilepsy and autistic features. While only recently discovered, pathogenicity of this gene is a relat...

    Authors: Monica Weldon, Murat Kilinc, J. Lloyd Holder Jr and Gavin Rumbaugh

    Citation: Journal of Neurodevelopmental Disorders 2018 10:6

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  17. Content type: Research

    Difficulties with executive functioning (EF) are common in individuals with a range of developmental disorders, including autism spectrum disorder (ASD). Interventions that target underlying mechanisms of EF e...

    Authors: Alexandra Hendry, Emily J. H. Jones, Rachael Bedford, Teodora Gliga, Tony Charman and Mark H. Johnson

    Citation: Journal of Neurodevelopmental Disorders 2018 10:3

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  18. Content type: Research

    Fragile X syndrome (FXS) is a neurodevelopmental genetic disorder causing cognitive and behavioural deficits. Repetition suppression (RS), a learning phenomenon in which stimulus repetitions result in diminish...

    Authors: Inga Sophia Knoth, Tarek Lajnef, Simon Rigoulot, Karine Lacourse, Phetsamone Vannasing, Jacques L. Michaud, Sébastien Jacquemont, Philippe Major, Karim Jerbi and Sarah Lippé

    Citation: Journal of Neurodevelopmental Disorders 2018 10:4

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  19. Content type: Research

    Potocki-Lupski syndrome (PTLS) and Smith-Magenis syndrome (SMS) are related genomic disorders, as duplication 17p11.2 (associated with PTLS) is the reciprocal recombination product of the SMS microdeletion. Wh...

    Authors: Stacey Bissell, Lucy Wilde, Caroline Richards, Jo Moss and Chris Oliver

    Citation: Journal of Neurodevelopmental Disorders 2018 10:2

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  20. Content type: Research

    Adaptive behavior, or the ability to function independently in ones’ environment, is a key phenotypic construct in autism spectrum disorder (ASD). Few studies of the development of adaptive behavior during pre...

    Authors: Cristan Farmer, Lauren Swineford, Susan E. Swedo and Audrey Thurm

    Citation: Journal of Neurodevelopmental Disorders 2018 10:1

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  21. Content type: Research

    Dopamine (DA) is a critical neuromodulator in the retina. Disruption of retinal DA synthesis and signaling significantly attenuates light-adapted, electroretinogram (ERG) responses, as well as contrast sensiti...

    Authors: Heng Dai, Chad R. Jackson, Gwynne L. Davis, Randy D. Blakely and Douglas G. McMahon

    Citation: Journal of Neurodevelopmental Disorders 2017 9:38

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  22. Content type: Research

    The limited behavioural phenotype literature on Phelan–McDermid syndrome (PMS) indicates atypically high levels of activity, impulsivity and autism spectrum disorder (ASD) behaviours. Divergent profiles of ASD...

    Authors: Caroline Richards, Laurie Powis, Jo Moss, Christopher Stinton, Lisa Nelson and Christopher Oliver

    Citation: Journal of Neurodevelopmental Disorders 2017 9:37

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  23. Content type: Research

    Estimates of the prevalence of developmental dyslexia in the general population range from 5% to as many as 10%. Symptoms include reading, writing, and language deficits, but the severity and mix of symptoms c...

    Authors: Edward G. Freedman, Sophie Molholm, Michael J. Gray, Daniel Belyusar and John J. Foxe

    Citation: Journal of Neurodevelopmental Disorders 2017 9:36

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