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  1. FOXP1 syndrome is a neurodevelopmental disorder caused by mutations or deletions that disrupt the forkhead box protein 1 (FOXP1) gene, which encodes a transcription factor important for the early development of m...

    Authors: Reymundo Lozano, Catherine Gbekie, Paige M. Siper, Shubhika Srivastava, Jeffrey M. Saland, Swathi Sethuram, Lara Tang, Elodie Drapeau, Yitzchak Frank, Joseph D. Buxbaum and Alexander Kolevzon
    Citation: Journal of Neurodevelopmental Disorders 2021 13:18
  2. Nearly all persons with Down syndrome will show pathology of Alzheimer’s disease in their 40s. There is a critical need for studies to identify early biomarkers of these various pathological changes of Alzheim...

    Authors: Austin Bazydlo, Matthew Zammit, Minjie Wu, Douglas Dean, Sterling Johnson, Dana Tudorascu, Ann Cohen, Karly Cody, Beau Ances, Charles Laymon, William Klunk, Shahid Zaman, Benjamin Handen, Andrew Alexander, Bradley Christian and Sigan Hartley
    Citation: Journal of Neurodevelopmental Disorders 2021 13:17
  3. There is a high degree of inter- and intra-individual variability observed within the phenotype of Down syndrome. The Down Syndrome Cognition Project was formed to capture this variability by developing a larg...

    Authors: Marie Moore Channell, Laura J. Mattie, Debra R. Hamilton, George T. Capone, E. Mark Mahone, Stephanie L. Sherman, Tracie C. Rosser, Roger H. Reeves and Luther G. Kalb
    Citation: Journal of Neurodevelopmental Disorders 2021 13:16
  4. 22q11.2 deletion syndrome (22q11DS) is a common recurrent neurogenetic condition associated with elevated risk for developmental neuropsychiatric disorders and intellectual disability. Children and adults with...

    Authors: Rhideeta Jalal, Aarti Nair, Amy Lin, Ariel Eckfeld, Leila Kushan, Jamie Zinberg, Katherine H. Karlsgodt, Tyrone D. Cannon and Carrie E. Bearden
    Citation: Journal of Neurodevelopmental Disorders 2021 13:15
  5. Tuberous sclerosis complex (TSC), a multi-system genetic disorder often associated with autism spectrum disorder (ASD), is caused by mutations of TSC1 or TSC2, which lead to constitutive overactivation of mammali...

    Authors: Tomas Petrasek, Iveta Vojtechova, Ondrej Klovrza, Klara Tuckova, Cestmir Vejmola, Jakub Rak, Anna Sulakova, Daniel Kaping, Nadine Bernhardt, Petrus J. de Vries, Jakub Otahal and Robert Waltereit
    Citation: Journal of Neurodevelopmental Disorders 2021 13:14
  6. The purpose of this study was to evaluate expressive language sampling (ELS) as a procedure for generating spoken language outcome measures for treatment research in Down syndrome (DS). We addressed (a) feasib...

    Authors: Angela John Thurman, Jamie O. Edgin, Stephanie L. Sherman, Audra Sterling, Andrea McDuffie, Elizabeth Berry-Kravis, Debra Hamilton and Leonard Abbeduto
    Citation: Journal of Neurodevelopmental Disorders 2021 13:13
  7. Disorders of gene dosage can significantly increase risk for psychopathology, but outcomes vary greatly amongst carriers of any given chromosomal aneuploidy or sub-chromosomal copy number variation (CNV). One ...

    Authors: Kathleen E. Wilson, Ari M. Fish, Catherine Mankiw, Anastasia Xenophontos, Allysa Warling, Ethan Whitman, Liv Clasen, Erin Torres, Jonathan Blumenthal and Armin Raznahan
    Citation: Journal of Neurodevelopmental Disorders 2021 13:12
  8. Social anxiety is highly prevalent in neurotypical children and children with fragile X syndrome (FXS). FXS is a genetic syndrome that is characterized by intellectual disability and an increased risk for auti...

    Authors: Conner J. Black, Abigail L. Hogan, Kayla D. Smith and Jane E. Roberts
    Citation: Journal of Neurodevelopmental Disorders 2021 13:11
  9. Motor deficits such as abnormal gait are an underappreciated yet characteristic phenotype of many neurodevelopmental disorders (NDDs), including Williams Syndrome (WS) and Neurofibromatosis Type 1 (NF1). Compa...

    Authors: Rachel M. Rahn, Claire T. Weichselbaum, David H. Gutmann, Joseph D. Dougherty and Susan E. Maloney
    Citation: Journal of Neurodevelopmental Disorders 2021 13:10
  10. Spinal muscular atrophy (SMA) is a chronic, neuromuscular disease characterized by degeneration of spinal cord motor neurons, resulting in progressive muscular atrophy and weakness. SMA1 is the most severe for...

    Authors: Grazia Zappa, Antonella LoMauro, Giovanni Baranello, Emilia Cavallo, Priscilla Corti, Chiara Mastella and Maria Antonella Costantino
    Citation: Journal of Neurodevelopmental Disorders 2021 13:9
  11. Neuroimaging research on individuals who have autism spectrum disorder (ASD) has historically been limited primarily to those with age-appropriate cognitive and language performance. Children with limited abil...

    Authors: Emily S. Kuschner, Mina Kim, Luke Bloy, Marissa Dipiero, J. Christopher Edgar and Timothy P. L. Roberts
    Citation: Journal of Neurodevelopmental Disorders 2021 13:8
  12. Individuals with autism spectrum disorder (ASD) often experience elevated stress during social interactions and may have difficulty forming and maintaining peer relationships. The autonomic nervous system (ANS...

    Authors: Rachael A. Muscatello, Simon N. Vandekar and Blythe A. Corbett
    Citation: Journal of Neurodevelopmental Disorders 2021 13:6
  13. Autism spectrum disorder (ASD) is associated with hyper- and/or hypo-sensitivity to sensory input. Spontaneous alpha power, which plays an important role in shaping responsivity to sensory information, is redu...

    Authors: Sarah Pierce, Girija Kadlaskar, David A. Edmondson, Rebecca McNally Keehn, Ulrike Dydak and Brandon Keehn
    Citation: Journal of Neurodevelopmental Disorders 2021 13:5
  14. Adults and adolescents with autism spectrum disorders show greater difficulties comprehending speech in the presence of noise. Moreover, while neurotypical adults use visual cues on the mouth to help them unde...

    Authors: Rochelle S. Newman, Laura A. Kirby, Katie Von Holzen and Elizabeth Redcay
    Citation: Journal of Neurodevelopmental Disorders 2021 13:4
  15. The Clinical Global Impression-Severity (CGI-S) and CGI-Improvement (CGI-I) scales are widely accepted tools that measure overall disease severity and change, synthesizing the clinician’s impression of the glo...

    Authors: Alexander Kolevzon, Pamela Ventola, Christopher J. Keary, Gali Heimer, Jeffrey L. Neul, Mathews Adera and Judith Jaeger
    Citation: Journal of Neurodevelopmental Disorders 2021 13:3
  16. Research with rodents is crucial for expanding our understanding of genetic and environmental risk factors for neurodevelopmental disorders (NDD). However, there is growing concern about the number of animal s...

    Authors: Jessica A. Jiménez and Mark J. Zylka
    Citation: Journal of Neurodevelopmental Disorders 2021 13:2
  17. Atypicalities in tactile processing are reported in autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) but it remains unknown if they precede and associate with the traits of th...

    Authors: Elena Serena Piccardi, Jannath Begum Ali, Emily J. H. Jones, Luke Mason, Tony Charman, Mark H. Johnson and Teodora Gliga
    Citation: Journal of Neurodevelopmental Disorders 2021 13:1
  18. Clinical studies found that medication for attention-deficit/hyperactivity disorder (ADHD) is effective in coexisting autism spectrum disorder (ASD), but current research is based on small clinical studies mai...

    Authors: Viktoria Johansson, Sven Sandin, Zheng Chang, Mark J. Taylor, Paul Lichtenstein, Brian M. D’Onofrio, Henrik Larsson, Clara Hellner and Linda Halldner
    Citation: Journal of Neurodevelopmental Disorders 2020 12:44
  19. Perinatal exposure to air pollution and immune system dysregulation are two factors consistently associated with autism spectrum disorders (ASD) and other neurodevelopmental outcomes. However, little is known ...

    Authors: Heather E. Volk, Bo Park, Calliope Hollingue, Karen L. Jones, Paul Ashwood, Gayle C. Windham, Fred Lurman, Stacey E. Alexeeff, Martin Kharrazi, Michelle Pearl, Judy Van de Water and Lisa A. Croen
    Citation: Journal of Neurodevelopmental Disorders 2020 12:42
  20. Exposure to traffic-related air pollution (TRAP) during development and/or in adulthood has been associated in many human studies with both neurodevelopmental and neurodegenerative diseases, such as autism spe...

    Authors: Toby B. Cole, Yu-Chi Chang, Khoi Dao, Ray Daza, Robert Hevner and Lucio G. Costa
    Citation: Journal of Neurodevelopmental Disorders 2020 12:41
  21. Neurodevelopmental disorders (NDDs), including intellectual disability, attention deficit hyperactivity disorder (ADHD), and autism spectrum disorder (ASD), are pervasive, lifelong disorders for which pharmaco...

    Authors: Elizabeth L. Berg, Tianna M. Ching, Donald A. Bruun, Josef K. Rivera, Milo Careaga, Jacob Ellegood, Jason P. Lerch, Markus Wöhr, Pamela J. Lein and Jill L. Silverman
    Citation: Journal of Neurodevelopmental Disorders 2020 12:40
  22. Many children in Bangladesh experience poor nutritional status and environmental lead exposure, both of which are associated with lower scores on neurodevelopmental assessments. Recent studies have suggested t...

    Authors: Kelsey M. Gleason, Linda Valeri, Anuraj H. Shankar, John F. Obrycki, Md Omar Sharif Ibne Hasan, Golam Mostofa, Quazi Quamruzzaman, Robert O. Wright, David C. Christiani, David C. Bellinger and Maitreyi Mazumdar
    Citation: Journal of Neurodevelopmental Disorders 2020 12:39
  23. Harsh environments surrounding fetuses and children can induce cellular damage in the developing brain, increasing the risk of intellectual disability and other neurodevelopmental disorders such as schizophren...

    Authors: Shahid Mohammad, Stephen J. Page, Toru Sasaki, Nicholas Ayvazian, Pasko Rakic, Yuka Imamura Kawasawa, Kazue Hashimoto-Torii and Masaaki Torii
    Citation: Journal of Neurodevelopmental Disorders 2020 12:38
  24. The fetal brain is adapted to the hypoxic conditions present during normal in utero development. Relatively more hypoxic states, either chronic or acute, are pathologic and can lead to significant long-term ne...

    Authors: Ana G. Cristancho and Eric D. Marsh
    Citation: Journal of Neurodevelopmental Disorders 2020 12:37
  25. The quality of early caregiving experiences is a known contributor to the quality of the language experiences young children receive. What is unknown is whether, and if so, how psychosocial deprivation early i...

    Authors: Kathryn L. Humphreys, Laura S. Machlin, Katherine L. Guyon-Harris, Charles A. Nelson, Nathan A. Fox and Charles H. Zeanah
    Citation: Journal of Neurodevelopmental Disorders 2020 12:36
  26. Literature on autism spectrum disorder (ASD) suggests lower ASD prevalence and higher age of diagnosis among children of color, from lower socioeconomic backgrounds, and from families with lower educational level...

    Authors: Kathleen McGrath, Karen Bonuck and Mana Mann
    Citation: Journal of Neurodevelopmental Disorders 2020 12:35
  27. Various techniques in assisted reproductive technology (ART) have been developed as solutions for specific infertility problems. It is important to gain consensual conclusions on the actual risks of neurodevel...

    Authors: Tono Djuwantono, Jenifer Kiem Aviani, Wiryawan Permadi, Tri Hanggono Achmad and Danny Halim
    Citation: Journal of Neurodevelopmental Disorders 2020 12:33
  28. Sleep problems have been shown to have a negative impact on language development and behavior for both typically developing children and children with a range of neurodevelopmental disorders. The relation of s...

    Authors: Caroline Greiner de Magalhães, Louise M. O’Brien and Carolyn B. Mervis
    Citation: Journal of Neurodevelopmental Disorders 2020 12:32
  29. Children with fragile X syndrome (FXS) are at increased risk for exhibiting problem behaviors such as aggression and self-injury. However, many children with FXS have limited access to behavioral treatments th...

    Authors: Scott S. Hall, Katerina D. Monlux, Arlette Bujanda Rodriguez, Booil Jo and Joy S. Pollard
    Citation: Journal of Neurodevelopmental Disorders 2020 12:31
  30. 22q11.2 deletion syndrome (22q11DS) is a genetic disorder associated with an increased risk of psychiatric disorders. Vulnerability for psychopathology has been related to an increased reactivity to stress. He...

    Authors: Maude Schneider, Thomas Vaessen, Esther D. A. van Duin, Zuzana Kasanova, Wolfgang Viechtbauer, Ulrich Reininghaus, Claudia Vingerhoets, Jan Booij, Ann Swillen, Jacob A. S. Vorstman, Thérèse van Amelsvoort and Inez Myin-Germeys
    Citation: Journal of Neurodevelopmental Disorders 2020 12:30
  31. Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked methyl-CpG binding protein 2 (MeCP2) gene. While MeCP2 mutations are lethal in most males, females survive birth but show s...

    Authors: Hyeong-Min Lee, M. Bram Kuijer, Nerea Ruiz Blanes, Ellen P. Clark, Megumi Aita, Lorena Galiano Arjona, Agnieszka Kokot, Noah Sciaky, Jeremy M. Simon, Sanchita Bhatnagar, Benjamin D. Philpot and Andrea Cerase
    Citation: Journal of Neurodevelopmental Disorders 2020 12:29
  32. Sensory processing deficits are common in individuals with neurodevelopmental disorders. One hypothesis is that deficits may be more detectable in downstream, “higher” sensory areas. A mouse model of Angelman ...

    Authors: Leah B. Townsend, Kelly A. Jones, Christopher R. Dorsett, Benjamin D. Philpot and Spencer L. Smith
    Citation: Journal of Neurodevelopmental Disorders 2020 12:28
  33. 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
  34. 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
  35. 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
  36. 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
  37. 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
  38. 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
  39. 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
  40. 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
  41. 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
  42. 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
  43. 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
  44. 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
  45. 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
  46. 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
  47. 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

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