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  1. Rett syndrome is an X-linked neurodevelopmental disorder caused by a mutation in the gene MECP2. Individuals with Rett syndrome display developmental regression at an early age, and develop a range of motor, audi...

    Authors: Katherine S. Adcock, Abigail E. Blount, Robert A. Morrison, Amanda Alvarez-Dieppa, Michael P. Kilgard, Crystal T. Engineer and Seth A. Hays

    Citation: Journal of Neurodevelopmental Disorders 2020 12:27

    Content type: Research

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  2. Rett syndrome (RTT), an X-linked neurodevelopmental rare disease mainly caused by MECP2-gene mutations, is a prototypic intellectual disability disorder. Reversibility of RTT-like phenotypes in an adult mouse mod...

    Authors: Javier Flores Gutiérrez, Claudio De Felice, Giulia Natali, Silvia Leoncini, Cinzia Signorini, Joussef Hayek and Enrico Tongiorgi

    Citation: Journal of Neurodevelopmental Disorders 2020 12:26

    Content type: Research

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  3. Rare genetic variants contribute to the etiology of both autism spectrum disorder (ASD) and schizophrenia (SCZ). Most genetic studies limit their focus to likely gene-disrupting mutations because they are rela...

    Authors: Kanako Ishizuka, Tomoyuki Yoshida, Takeshi Kawabata, Ayako Imai, Hisashi Mori, Hiroki Kimura, Toshiya Inada, Yuko Okahisa, Jun Egawa, Masahide Usami, Itaru Kushima, Mako Morikawa, Takashi Okada, Masashi Ikeda, Aleksic Branko, Daisuke Mori…

    Citation: Journal of Neurodevelopmental Disorders 2020 12:25

    Content type: Research

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  4. Tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND) have unique, individual patterns that pose significant challenges for diagnosis, psycho-education, and intervention planning. A rec...

    Authors: Petrus J. de Vries, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Lisa D’Amato, Guillaume Beure d’Augères, José C. Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, John A. Lawson, Alfons Macaya, Ruben Marques…

    Citation: Journal of Neurodevelopmental Disorders 2020 12:24

    Content type: Research

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  5. A growing body of research has demonstrated associations between specific neurodevelopmental disorders and variation in DNA methylation (DNAm), implicating this molecular mark as a possible contributor to the ...

    Authors: Sarah J. Goodman, Christie L. Burton, Darci T. Butcher, Michelle T. Siu, Mathieu Lemire, Eric Chater-Diehl, Andrei L. Turinsky, Michael Brudno, Noam Soreni, David Rosenberg, Kate D. Fitzgerald, Gregory L. Hanna, Evdokia Anagnostou, Paul D. Arnold, Jennifer Crosbie, Russell Schachar…

    Citation: Journal of Neurodevelopmental Disorders 2020 12:23

    Content type: Research

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  6. Duplications of 15q11.2-q13.1 (Dup15q syndrome) are highly penetrant for autism, intellectual disability, hypotonia, and epilepsy. The 15q region harbors genes critical for brain development, particularly UBE3A a...

    Authors: Vidya Saravanapandian, Joel Frohlich, Joerg F. Hipp, Carly Hyde, Aaron W. Scheffler, Peyman Golshani, Edwin H. Cook, Lawrence T. Reiter, Damla Senturk and Shafali S. Jeste

    Citation: Journal of Neurodevelopmental Disorders 2020 12:22

    Content type: Research

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  7. Prader–Willi syndrome (PWS) is a neurodevelopmental disorder characterized by multiple respiratory, cognitive, endocrine, and behavioral symptoms, such as central apnea, intellectual disabilities, exaggerated ...

    Authors: Rui-Ni Wu, Wei-Chen Hung, Ching-Tsuey Chen, Li-Ping Tsai, Wen-Sung Lai, Ming-Yuan Min and Shi-Bing Wong

    Citation: Journal of Neurodevelopmental Disorders 2020 12:21

    Content type: Research

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  8. Matching is one commonly utilized method in quasi-experimental designs involving individuals with neurodevelopmental disorders (NDD). This method ensures two or more groups (e.g., individuals with an NDD versu...

    Authors: Janet Y. Bang, Megha Sharda and Aparna S. Nadig

    Citation: Journal of Neurodevelopmental Disorders 2020 12:20

    Content type: New method

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  9. MECP2 duplication syndrome (MDS) is a rare X-linked genomic disorder primarily affecting males which is caused by interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. Core clinical features ...

    Authors: Sarika U. Peters, Cary Fu, Jeffrey L. Neul and Douglas A. Granger

    Citation: Journal of Neurodevelopmental Disorders 2020 12:19

    Content type: Research

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  10. It is well known that individuals with Down syndrome (DS) or fragile X syndrome (FXS) demonstrate expressive language difficulties beginning early in childhood. It is less clear, however, whether expressive la...

    Authors: Laura del Hoyo Soriano, Angela John Thurman, Danielle Harvey, Sara T. Kover and Leonard Abbeduto

    Citation: Journal of Neurodevelopmental Disorders 2020 12:18

    Content type: Research

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  11. Alpha-thalassemia/mental retardation, X-linked, or ATRX, is an autism susceptibility gene that encodes a chromatin remodeler. Mutations of ATRX result in the ATR-X intellectual disability syndrome and have been i...

    Authors: Nicole Martin-Kenny and Nathalie G. Bérubé

    Citation: Journal of Neurodevelopmental Disorders 2020 12:17

    Content type: Research

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  12. The lack of available measures that can reliably characterize early developmental skills in children with neurogenetic syndromes (NGS) poses a significant challenge for research on early development in these p...

    Authors: Lisa R. Hamrick, Alison M. Haney, Bridgette L. Kelleher and Sean P. Lane

    Citation: Journal of Neurodevelopmental Disorders 2020 12:16

    Content type: Research

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  13. Fetal alcohol spectrum disorders (FASD) are common, seen in 1–5% of the population in the USA and Canada. Children diagnosed with FASD are not likely to remain with their biological parents, facing early mater...

    Authors: Bonnie L. J. Alberry, Christina A. Castellani and Shiva M. Singh

    Citation: Journal of Neurodevelopmental Disorders 2020 12:15

    Content type: Research

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  14. Lowe syndrome (LS) is caused by loss-of-function mutations in the X-linked gene OCRL, which codes for an inositol polyphosphate 5-phosphatase that plays a key role in endosome recycling, clathrin-coated pit fo...

    Authors: Hequn Liu, Jesse Barnes, Erika Pedrosa, Nathaniel S. Herman, Franklin Salas, Ping Wang, Deyou Zheng and Herbert M. Lachman

    Citation: Journal of Neurodevelopmental Disorders 2020 12:14

    Content type: Research

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  15. Fragile X syndrome (FXS) is the most common single gene cause of autism and intellectual disabilities. Humans with FXS exhibit increased anxiety, sensory hypersensitivity, seizures, repetitive behaviors, cogni...

    Authors: Khaleel A. Razak, Kelli C. Dominick and Craig A. Erickson

    Citation: Journal of Neurodevelopmental Disorders 2020 12:13

    Content type: Review

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  16. The purpose of this study was to conduct a 20-week controlled trial of lovastatin (10 to 40 mg/day) in youth with fragile X syndrome (FXS) ages 10 to 17 years, combined with an open-label treatment of a parent...

    Authors: Angela John Thurman, Laura A. Potter, Kyoungmi Kim, Flora Tassone, Amy Banasik, Sarah Nelson Potter, Lauren Bullard, Vivian Nguyen, Andrea McDuffie, Randi Hagerman and Leonard Abbeduto

    Citation: Journal of Neurodevelopmental Disorders 2020 12:12

    Content type: Research

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  17. In the original publication of this article [1], the author name Leonard Abbeduto was misspelled as Leonardkk Abbeduto. The original article has been corrected.

    Authors: Leonard Abbeduto, Elizabeth Berry-Kravis, Audra Sterling, Stephanie Sherman, Jamie O. Edgin, Andrea McDuffie, Anne Hoffmann, Debra Hamilton, Michael Nelson, Jeannie Aschkenasy and Angela John Thurman

    Citation: Journal of Neurodevelopmental Disorders 2020 12:11

    Content type: Correction

    Published on:

    The original article was published in Journal of Neurodevelopmental Disorders 2020 12:10

  18. The evaluation of treatment efficacy for individuals with fragile X syndrome (FXS) or intellectual disability (ID) more generally has been hampered by the lack of adequate outcome measures. We evaluated expres...

    Authors: Leonard Abbeduto, Elizabeth Berry-Kravis, Audra Sterling, Stephanie Sherman, Jamie O. Edgin, Andrea McDuffie, Anne Hoffmann, Debra Hamilton, Michael Nelson, Jeannie Aschkenasy and Angela John Thurman

    Citation: Journal of Neurodevelopmental Disorders 2020 12:10

    Content type: Research

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  19. Despite the high prevalence of fetal alcohol spectrum disorder (FASD), there are few interventions targeting its core neurocognitive and behavioral deficits. FASD is often conceptualized as static and permanen...

    Authors: Jeffrey R. Wozniak, Birgit A. Fink, Anita J. Fuglestad, Judith K. Eckerle, Christopher J. Boys, Kristin E. Sandness, Joshua P. Radke, Neely C. Miller, Christopher Lindgren, Ann M. Brearley, Steven H. Zeisel and Michael K. Georgieff

    Citation: Journal of Neurodevelopmental Disorders 2020 12:9

    Content type: Research

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  20. Altered brain activity that has been observed in attention deficit hyperactivity disorder (ADHD) while performing cognitive control tasks like the stop signal task (SST) has generally been interpreted as refle...

    Authors: Andre Chevrier and Russell J. Schachar

    Citation: Journal of Neurodevelopmental Disorders 2020 12:8

    Content type: Research

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  21. Phelan-McDermid syndrome (PMS) is a genetic condition characterized by intellectual disability, speech and language deficits, hypotonia, autism spectrum disorder, and epilepsy. PMS is caused by 22q13.33 deleti...

    Authors: Teresa M. Kohlenberg, M. Pilar Trelles, Brittany McLarney, Catalina Betancur, Audrey Thurm and Alexander Kolevzon

    Citation: Journal of Neurodevelopmental Disorders 2020 12:7

    Content type: Research

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  22. There is an ongoing debate as to whether attention-deficit hyperactivity disorder (ADHD) in highly intelligent individuals has a similar presentation as in average intelligent individuals. The aim of this stud...

    Authors: María Cadenas, Catharina Hartman, Stephen Faraone, Kevin Antshel, África Borges, Lianne Hoogeveen and Nanda Rommelse

    Citation: Journal of Neurodevelopmental Disorders 2020 12:6

    Content type: Research

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  23. Younger siblings of children with autism spectrum disorder (ASD) are at increased likelihood of receiving an ASD diagnosis and exhibiting other developmental concerns. It is unknown how quantitative variation ...

    Authors: Jessica B. Girault, Meghan R. Swanson, Shoba S. Meera, Rebecca L. Grzadzinski, Mark D. Shen, Catherine A. Burrows, Jason J. Wolff, Juhi Pandey, Tanya St John, Annette Estes, Lonnie Zwaigenbaum, Kelly N. Botteron, Heather C. Hazlett, Stephen R. Dager, Robert T. Schultz, John N. Constantino…

    Citation: Journal of Neurodevelopmental Disorders 2020 12:5

    Content type: Research

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  24. Down syndrome (DS) is associated with variable intellectual disability and multiple health and psychiatric comorbidities. The impact of such comorbidities on cognitive outcomes is unknown. We aimed to describe...

    Authors: Carla M. Startin, Hana D’Souza, George Ball, Sarah Hamburg, Rosalyn Hithersay, Kate M. O. Hughes, Esha Massand, Annette Karmiloff-Smith, Michael S. C. Thomas and Andre Strydom

    Citation: Journal of Neurodevelopmental Disorders 2020 12:4

    Content type: Research

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  25. Research in rare genetic syndromes associated with ASD is often hampered by the wide geographic distribution of families and the presence of medical comorbidities, such as epilepsy, that may preclude travel to...

    Authors: Carly Hyde, Maria Pizzano, Nicole M. McDonald, Charles A. Nelson III, Connie Kasari, Elizabeth A. Thiele and Shafali S. Jeste

    Citation: Journal of Neurodevelopmental Disorders 2020 12:3

    Content type: Research

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  26. Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with a mutation in one copy of the neurofibromin gene (NF1+/−). Even though approximately 40–60% of children with NF1 meet the criteria for attenti...

    Authors: J. L. Lukkes, H. P. Drozd, S. D. Fitz, A. I. Molosh, D. W. Clapp and A. Shekhar

    Citation: Journal of Neurodevelopmental Disorders 2020 12:2

    Content type: Research

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  27. Individuals with autism spectrum disorder (ASD) show a reduced ability to maintain postural stability, though motor control mechanisms contributing to these issues and the extent to which they are associated w...

    Authors: Erin K. Bojanek, Zheng Wang, Stormi P. White and Matthew W. Mosconi

    Citation: Journal of Neurodevelopmental Disorders 2020 12:1

    Content type: Research

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  28. Autism spectrum disorder (ASD) is a neurodevelopmental disorder defined and diagnosed by core deficits in social communication and the presence of restricted and repetitive behaviors. Research on face processi...

    Authors: Kimberly B. Schauder, Woon Ju Park, Yuliy Tsank, Miguel P. Eckstein, Duje Tadin and Loisa Bennetto

    Citation: Journal of Neurodevelopmental Disorders 2019 11:42

    Content type: Research

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  29. Fragile X syndrome (FXS) is a common cause of intellectual disability and autism spectrum disorder (ASD) usually associated with a CGG expansion, termed full mutation (FM: CGG ≥ 200), increased DNA methylation...

    Authors: Emma K. Baker, Marta Arpone, Solange Aliaga Vera, Lesley Bretherton, Alexandra Ure, Claudine M. Kraan, Minh Bui, Ling Ling, David Francis, Matthew F. Hunter, Justine Elliott, Carolyn Rogers, Michael J. Field, Jonathan Cohen, Lorena Santa Maria, Victor Faundes…

    Citation: Journal of Neurodevelopmental Disorders 2019 11:41

    Content type: Research

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  30. Our ability to generate mental representation of magnitude from sensory information affects how we perceive and experience the world. Reduced resolution of the mental representations formed from sensory inputs...

    Authors: Kathryn L. McCabe, Abbie M. Popa, Courtney Durdle, Michele Amato, Margarita H. Cabaral, Joshua Cruz, Ling M. Wong, Danielle Harvey, Nicole Tartaglia and Tony J. Simon

    Citation: Journal of Neurodevelopmental Disorders 2019 11:40

    Content type: Research

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  31. Adults with Down syndrome (DS) are at increased risk for Alzheimer disease dementia, and there is a pressing need for the development of assessment instruments that differentiate chronic cognitive impairment, ...

    Authors: Christina N. Lessov-Schlaggar, Olga L. del Rosario, John C. Morris, Beau M. Ances, Bradley L. Schlaggar and John N. Constantino

    Citation: Journal of Neurodevelopmental Disorders 2019 11:39

    Content type: Research

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  32. During the first 3-years of life, as the brain undergoes dramatic growth, children begin to develop speech and language. Hallmarks of this progression are seen when children reach developmental milestones, for...

    Authors: Stephanie N. Del Tufo, F. Sayako Earle and Laurie E. Cutting

    Citation: Journal of Neurodevelopmental Disorders 2019 11:37

    Content type: Research

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  33. Autism spectrum disorder (ASD) is prevalent in tuberous sclerosis complex (TSC), occurring in approximately 50% of patients, and is hypothesized to be caused by disruption of neural circuits early in life. Tub...

    Authors: Anna K. Prohl, Benoit Scherrer, Xavier Tomas-Fernandez, Peter E. Davis, Rajna Filip-Dhima, Sanjay P. Prabhu, Jurriaan M. Peters, E. Martina Bebin, Darcy A. Krueger, Hope Northrup, Joyce Y. Wu, Mustafa Sahin and Simon K. Warfield

    Citation: Journal of Neurodevelopmental Disorders 2019 11:36

    Content type: Research

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  34. Down syndrome (DS), caused by the triplication of chromosome 21, results in a constellation of clinical features including changes in intellectual and motor function. Although altered neural development and fu...

    Authors: Nadine M. Aziz, Jenny A. Klein, Morgan R. Brady, Jose Luis Olmos-Serrano, Vittorio Gallo and Tarik F. Haydar

    Citation: Journal of Neurodevelopmental Disorders 2019 11:35

    Content type: Research

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  35. Intrauterine growth restriction (IUGR) is a common complication of pregnancy and is associated with significant neurological deficits in infants, including white matter damage. Previous work using an animal mo...

    Authors: Allison E. Zanno, Micah A. Romer, Lauren Fox, Thea Golden, Lane Jaeckle-Santos, Rebecca A. Simmons and Judith B. Grinspan

    Citation: Journal of Neurodevelopmental Disorders 2019 11:34

    Content type: Research

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  36. The core symptoms of autism spectrum disorder (ASD) are widely theorized to result from altered brain connectivity. Diffusion-weighted magnetic resonance imaging (DWI) has been a versatile method for investiga...

    Authors: Derek Sayre Andrews, Joshua K. Lee, Marjorie Solomon, Sally J. Rogers, David G. Amaral and Christine Wu Nordahl

    Citation: Journal of Neurodevelopmental Disorders 2019 11:32

    Content type: Research

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  37. The mitochondrial aminoacyl-tRNA synthetase proteins (mt-aaRSs) are a group of nuclear-encoded enzymes that facilitate conjugation of each of the 20 amino acids to its cognate tRNA molecule. Mitochondrial dise...

    Authors: Amena Smith Fine, Christina L. Nemeth, Miriam L. Kaufman and Ali Fatemi

    Citation: Journal of Neurodevelopmental Disorders 2019 11:29

    Content type: Review

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  38. Dyslexia and Attention-deficit/hyperactivity disorder (ADHD) are highly comorbid neurodevelopmental disorders (estimates of 25–40% bidirectional comorbidity). Previous work has identified strong genetic and co...

    Authors: Lauren M. McGrath and Catherine J. Stoodley

    Citation: Journal of Neurodevelopmental Disorders 2019 11:31

    Content type: Research

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  39. Neurodevelopmental disorders such as 16p11.2 syndrome are frequently associated with motor impairments including locomotion. The lack of precise measures of gait, combined with the challenges inherent in study...

    Authors: Sylvie Goldman, Aston K. McCullough, Sally Dunaway Young, Carly Mueller, Adrianna Stahl, Audrey Zoeller, Laurel Daniels Abbruzzese, Ashwini K. Rao and Jacqueline Montes

    Citation: Journal of Neurodevelopmental Disorders 2019 11:26

    Content type: Research

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  40. Receptive and expressive vocabulary in adult and adolescent males with fragile X syndrome (FXS) have been shown as significantly lower than their chronological age; however, receptive vocabulary has been consi...

    Authors: Anne Hoffmann, Sue Ellen Krause, Joanne Wuu, Sue Leurgans, Stephen J. Guter Jr, Sandra S. Block, Jeff Salt, Edwin Cook Jr, Dominick M. Maino and Elizabeth Berry-Kravis

    Citation: Journal of Neurodevelopmental Disorders 2019 11:25

    Content type: Research

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  41. Pitt-Hopkins syndrome (PTHS) is a genetic neurodevelopmental disorder associated with intellectual disability. Although the genetic mechanisms underlying the disorder have been identified, description of its b...

    Authors: Alice Watkins, Stacey Bissell, Jo Moss, Chris Oliver, Jill Clayton-Smith, Lorraine Haye, Mary Heald and Alice Welham

    Citation: Journal of Neurodevelopmental Disorders 2019 11:24

    Content type: Research

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  42. Autism spectrum disorder (ASD) is highly prevalent in fragile X syndrome (FXS), affecting 50–70% of males. Motor impairments are a shared feature across autism and FXS that may help to better characterize auti...

    Authors: Elizabeth A. Will, Somer L. Bishop and Jane E. Roberts

    Citation: Journal of Neurodevelopmental Disorders 2019 11:23

    Content type: Research

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  43. Fragile X syndrome (FXS) is a genetic disorder that is highly comorbid with anxiety and autism spectrum disorder (ASD). Elevated negative affect in young children has been associated with increased risk for bo...

    Authors: Carla A. Wall, Abigail L. Hogan, Elizabeth A. Will, Samuel McQuillin, Bridgette L. Kelleher and Jane E. Roberts

    Citation: Journal of Neurodevelopmental Disorders 2019 11:22

    Content type: Research

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  44. Qualitatively atypical language development characterized by non-sequential skill acquisition within a developmental domain, which has been called developmental deviance or difference, is a common characteristic ...

    Authors: Abby E. Hare-Harris, Marissa W. Mitchel, Scott M. Myers, Aaron D. Mitchel, Brian R. King, Brittany G. Ruocco, Christa Lese Martin, Judy F. Flax and Linda M. Brzustowicz

    Citation: Journal of Neurodevelopmental Disorders 2019 11:21

    Content type: Research

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  45. Measures of general cognitive and adaptive ability in adults with Down syndrome (DS) used by previous studies vary substantially. This review summarises the different ability measures used previously, focusing...

    Authors: Sarah Hamburg, Bryony Lowe, Carla Marie Startin, Concepcion Padilla, Antonia Coppus, Wayne Silverman, Juan Fortea, Shahid Zaman, Elizabeth Head, Benjamin L. Handen, Ira Lott, Weihong Song and André Strydom

    Citation: Journal of Neurodevelopmental Disorders 2019 11:20

    Content type: Review

    Published on:

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