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  1. Anxiety symptomatology is common in individuals with intellectual disability (ID). Symptomatology includes both traditional Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5) anxiety di...

    Authors: Laura Groves, Joanna Moss, Chris Oliver, Rachel Royston, Jane Waite and Hayley Crawford
    Citation: Journal of Neurodevelopmental Disorders 2022 14:54
  2. A significant proportion of boys with fragile X syndrome (FXS), the most common known genetic cause of intellectual disability, exhibit challenging behaviors such as aggression and self-injury that can cause s...

    Authors: Scott S. Hall, Arlette Bujanda Rodriguez, Booil Jo and Joy S. Pollard
    Citation: Journal of Neurodevelopmental Disorders 2022 14:53
  3. Fragile X syndrome (FXS) is the most common inherited form of neurodevelopmental disability. It is often characterized, especially in males, by intellectual disability, anxiety, repetitive behavior, social com...

    Authors: Carrie R. Jonak, Ernest V. Pedapati, Lauren M. Schmitt, Samantha A. Assad, Manbir S. Sandhu, Lisa DeStefano, Lauren Ethridge, Khaleel A. Razak, John A. Sweeney, Devin K. Binder and Craig A. Erickson
    Citation: Journal of Neurodevelopmental Disorders 2022 14:52
  4. Intellectual disability affects approximately one third of individuals with autism spectrum disorder (autism). Yet, a major unresolved neurobiological question is what differentiates autistic individuals with ...

    Authors: Joshua K. Lee, An Chuen Billy Cho, Derek S. Andrews, Sally Ozonoff, Sally J. Rogers, David G. Amaral, Marjorie Solomon and Christine Wu Nordahl
    Citation: Journal of Neurodevelopmental Disorders 2022 14:51
  5. A growing number of variants associated with risk for neurodevelopmental disorders have been identified by genome-wide association and whole genome sequencing studies. As common risk variants often fall within...

    Authors: Jessica C. McAfee, Jessica L. Bell, Oleh Krupa, Nana Matoba, Jason L. Stein and Hyejung Won
    Citation: Journal of Neurodevelopmental Disorders 2022 14:50
  6. CHARGE syndrome (OMIM #214800) is a phenotypically complex genetic condition characterised by multi-system, multi-sensory impairments. Behavioural, psychological, cognitive and sleep difficulties are not well ...

    Authors: Andrea T. Thomas, Jane Waite, Caitlin A. Williams, Jeremy Kirk, Chris Oliver and Caroline Richards
    Citation: Journal of Neurodevelopmental Disorders 2022 14:49
  7. Autism is a complex condition with many traits, including differences in auditory sensitivity. Studies in human autism are plagued by the difficulty of controlling for aetiology, whereas studies in individual ...

    Authors: Maya Wilde, Lena Constantin, Peter R. Thorne, Johanna M. Montgomery, Ethan K. Scott and Juliette E. Cheyne
    Citation: Journal of Neurodevelopmental Disorders 2022 14:48
  8. Autism spectrum disorder (ASD) is associated with atypical neural activity in resting state. Most of the studies have focused on abnormalities in alpha frequency as a marker of ASD dysfunctions. However, few h...

    Authors: Wantzen Prany, Clochon Patrice, Doidy Franck, Wallois Fabrice, Mahmoudzadeh Mahdi, Desaunay Pierre, Mille Christian, Guilé Jean-Marc, Guénolé Fabian, Eustache Francis, Baleyte Jean-Marc and Guillery-Girard Bérengère
    Citation: Journal of Neurodevelopmental Disorders 2022 14:47
  9. Neurotypical individuals categorize items even during ultra-rapid presentations (20 ms; see Thorpe et al. Nature 381: 520, 1996). In cognitively able autistic adults, these semantic categorization processes ma...

    Authors: Ann-Kathrin Beck, Daniela Czernochowski, Thomas Lachmann, Bernardo Barahona-Correa and Joana C. Carmo
    Citation: Journal of Neurodevelopmental Disorders 2022 14:46
  10. Heterogeneity in neurodevelopmental disorders, and attention deficit hyperactivity disorder (ADHD) in particular, is increasingly identified as a barrier to identifying biomarkers and developing standards for ...

    Authors: Anne B. Arnett and Brian P. Flaherty
    Citation: Journal of Neurodevelopmental Disorders 2022 14:45
  11. About 1:650–1000 children are born with an extra X or Y chromosome (47,XXX; 47,XXY; 47,XYY), which results in a sex chromosome trisomy (SCT). This international cross-sectional study was designed to investigat...

    Authors: Nienke Bouw, Hanna Swaab, Nicole Tartaglia, Lisa Cordeiro and Sophie van Rijn
    Citation: Journal of Neurodevelopmental Disorders 2022 14:44
  12. It is unclear whether atypical patterns of facial expression production metrics in autism reflect the dynamic and nuanced nature of facial expressions across people or a true diagnostic difference. Furthermore...

    Authors: Jennifer Quinde-Zlibut, Anabil Munshi, Gautam Biswas and Carissa J. Cascio
    Citation: Journal of Neurodevelopmental Disorders 2022 14:43
  13. Neurofibromatosis type 1 (NF1) is a genetic disorder often associated with cognitive dysfunctions, including a high occurrence of deficits in visuoperceptual skills. The neural underpinnings of these visuoperc...

    Authors: Eve Lalancette, Audrey-Rose Charlebois-Poirier, Kristian Agbogba, Inga Sophia Knoth, Emily J. H. Jones, Luke Mason, Sébastien Perreault and Sarah Lippé
    Citation: Journal of Neurodevelopmental Disorders 2022 14:42
  14. Sleep disturbance is common, impairing, and may affect symptomatology in developmental neuropsychiatric disorders. Here, we take a genetics-first approach to study the complex role of sleep in psychopathology....

    Authors: Kathleen P. O’Hora, Amy Lin, Leila Kushan-Wells and Carrie E. Bearden
    Citation: Journal of Neurodevelopmental Disorders 2022 14:41
  15. SLC6A1-related disorder is a recently identified, rare, genetic neurodevelopmental disorder that is associated with loss-of-function variants in SLC6A1. This gene encodes GABA transporter type I that is responsib...

    Authors: Jennifer M. Bain, LeeAnne Green Snyder, Katherine L. Helbig, Dominique D. Cooper, Wendy K. Chung and Kimberly Goodspeed
    Citation: Journal of Neurodevelopmental Disorders 2022 14:40
  16. Numerous genes are implicated in autism spectrum disorder (ASD). ASD encompasses a wide-range and severity of symptoms and co-occurring conditions; however, the details of how genetic variation contributes to ...

    Authors: Olivia J. Veatch, Diego R. Mazzotti, Robert T. Schultz, Ted Abel, Jacob J. Michaelson, Edward S. Brodkin, Birkan Tunc, Susan G. Assouline, Thomas Nickl-Jockschat, Beth A. Malow, James S. Sutcliffe and Allan I. Pack
    Citation: Journal of Neurodevelopmental Disorders 2022 14:39
  17. Late talking (LT) in toddlers is a risk factor for language weakness that may interfere with the development of using language to regulate behavior and emotion and contribute to the development of behavior pro...

    Authors: Hsin-Hui Lu, Jeng-Dau Tsai and Feng-Ming Tsao
    Citation: Journal of Neurodevelopmental Disorders 2022 14:38
  18. In over half of pediatric cases, ADHD presents with comorbidities, and often, it is unclear whether the symptoms causing impairment are due to the comorbidity or the underlying ADHD. Comorbid conditions increa...

    Authors: Isabella Slaby, Heather S. Hain, Debra Abrams, Frank D. Mentch, Joseph T. Glessner, Patrick M. A. Sleiman and Hakon Hakonarson
    Citation: Journal of Neurodevelopmental Disorders 2022 14:37
  19. Speech is the most common modality through which language is communicated, and delayed, disordered, or absent speech production is a hallmark of many neurodevelopmental and genetic disorders. Yet, speech is no...

    Authors: Karen V. Chenausky and Helen Tager-Flusberg
    Citation: Journal of Neurodevelopmental Disorders 2022 14:36
  20. Down syndrome regression disorder is a symptom cluster consisting of neuropsychiatric regression without cause. This study evaluated the incidence of neurodiagnostic abnormalities in individuals with Down synd...

    Authors: Jonathan D. Santoro, Rebecca Partridge, Runi Tanna, Dania Pagarkar, Mellad Khoshnood, Mustafa Rehmani, Ryan M. Kammeyer, Grace Y. Gombolay, Kristen Fisher, Allison Conravey, Jane El-Dahr, Alison L. Christy, Lina Patel, Melanie A. Manning, Heather Van Mater, Michael S. Rafii…
    Citation: Journal of Neurodevelopmental Disorders 2022 14:35
  21. SYNGAP1-related intellectual disability (ID) is a recently described neurodevelopmental disorder that is caused by pathogenic variation in the SYNGAP1 gene. To date, the behavioural characteristics of this disor...

    Authors: Damien Wright, Aisling Kenny, Sarah Eley, Andrew G. McKechanie and Andrew C. Stanfield
    Citation: Journal of Neurodevelopmental Disorders 2022 14:34
  22. Regulator of calcineurin 1 (RCAN1) is overexpressed in Down syndrome (DS), but RCAN1 levels are also increased in Alzheimer’s disease (AD) and normal aging. AD is highly comorbid among individuals with DS and is...

    Authors: Helen Wong, Jordan M. Buck, Curtis Borski, Jessica T. Pafford, Bailey N. Keller, Ryan A. Milstead, Jessica L. Hanson, Jerry A. Stitzel and Charles A. Hoeffer
    Citation: Journal of Neurodevelopmental Disorders 2022 14:33
  23. Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by restricted, repetitive behavior, and impaired social communication and interactions. However, significant challenges re...

    Authors: Mengge Zhao, James Havrilla, Jacqueline Peng, Madison Drye, Maddie Fecher, Whitney Guthrie, Birkan Tunc, Robert Schultz, Kai Wang and Yunyun Zhou
    Citation: Journal of Neurodevelopmental Disorders 2022 14:32
  24. Rett syndrome (RTT) is a neurodevelopmental disorder most often related to a pathogenic variant in the X-linked MECP2 gene. Internalizing behaviors appear to be common, but standard methods of diagnosing anxiety ...

    Authors: Caroline B. Buchanan, Jennifer L. Stallworth, Aubin E. Joy, Rebekah E. Dixon, Alexandra E. Scott, Arthur A. Beisang, Timothy A. Benke, Daniel G. Glaze, Richard H. Haas, Peter T. Heydemann, Mary D. Jones, Jane B. Lane, David N. Lieberman, Eric D. Marsh, Jeffrey L. Neul, Sarika U. Peters…
    Citation: Journal of Neurodevelopmental Disorders 2022 14:31
  25. Attention Deficit Hyperactivity Disorder (ADHD) is the most prevalent childhood neurodevelopmental disorder. It shares some genetic risk with Autism Spectrum Disorder (ASD), and the conditions often occur toge...

    Authors: Irene O. Lee, David H. Skuse, Paul A. Constable, Fernando Marmolejo-Ramos, Ludvig R. Olsen and Dorothy A. Thompson
    Citation: Journal of Neurodevelopmental Disorders 2022 14:30
  26. Autism spectrum disorder is a neurodevelopmental disorder, affecting 1–2% of children. Studies have revealed genetic and cellular abnormalities in the brains of affected individuals, leading to both regional a...

    Authors: Maider Astorkia, Herbert M. Lachman and Deyou Zheng
    Citation: Journal of Neurodevelopmental Disorders 2022 14:29
  27. Intellectual and Developmental Disabilities (IDDs), such as Down syndrome, Fragile X syndrome, Rett syndrome, and autism spectrum disorder, usually manifest at birth or early childhood. IDDs are characterized ...

    Authors: Chirag Gupta, Pramod Chandrashekar, Ting Jin, Chenfeng He, Saniya Khullar, Qiang Chang and Daifeng Wang
    Citation: Journal of Neurodevelopmental Disorders 2022 14:28
  28. The development of advanced genetic technologies has resulted in rapid identification of genetic etiologies of neurodevelopmental disorders (NDDs) and has transformed the classification and diagnosis of variou...

    Authors: Juliana Simon, Carly Hyde, Vidya Saravanapandian, Rujuta Wilson, Charlotte Distefano, Aaron Besterman and Shafali Jeste
    Citation: Journal of Neurodevelopmental Disorders 2022 14:27
  29. Neonatal hypoxic brain injury is a major cause of intellectual and developmental disability. Hypoxia causes neuronal dysfunction and death in the developing cerebral cortex due to excitotoxic Ca2+-influx. In the ...

    Authors: Panagiotis Kratimenos, Abhya Vij, Robinson Vidva, Ioannis Koutroulis, Maria Delivoria-Papadopoulos, Vittorio Gallo and Aaron Sathyanesan
    Citation: Journal of Neurodevelopmental Disorders 2022 14:26
  30. SATB2-associated syndrome (SAS) is a multisystem neurodevelopmental disorder characterised by intellectual disability, speech delay, and craniofacial anomalies. Although the clinical presentation of SAS is wel...

    Authors: Stacey Bissell, Chris Oliver, Joanna Moss, Mary Heald, Jane Waite, Hayley Crawford, Vishakha Kothari, Lauren Rumbellow, Grace Walters and Caroline Richards
    Citation: Journal of Neurodevelopmental Disorders 2022 14:25
  31. Computational phenotypes are most often combinations of patient billing codes that are highly predictive of disease using electronic health records (EHR). In the case of rare diseases that can only be diagnose...

    Authors: Cartik Kothari, Siddharth Srivastava, Youssef Kousa, Rima Izem, Marcin Gierdalski, Dongkyu Kim, Amy Good, Kira A. Dies, Gregory Geisel, Hiroki Morizono, Vittorio Gallo, Scott L. Pomeroy, Gwenn A. Garden, Lisa Guay-Woodford, Mustafa Sahin and Paul Avillach
    Citation: Journal of Neurodevelopmental Disorders 2022 14:24
  32. Carriers of the FMR1 premutation are at increased risk of developing a late-onset progressive neurodegenerative disease, fragile X-associated tremor/ataxia syndrome (FXTAS), characterized by intention tremor, gai...

    Authors: Jessica Famula, Emilio Ferrer, Randi J. Hagerman, Flora Tassone, Andrea Schneider, Susan M. Rivera and David Hessl
    Citation: Journal of Neurodevelopmental Disorders 2022 14:23
  33. The recent National Institute of Health (NIH) INCLUDE (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE) initiative has bolstered capacity for the current increase in cl...

    Authors: Nicole T. Baumer, Mara L. Becker, George T. Capone, Kathleen Egan, Juan Fortea, Benjamin L. Handen, Elizabeth Head, James E. Hendrix, Ruth Y. Litovsky, Andre Strydom, Ignacio E. Tapia and Michael S. Rafii
    Citation: Journal of Neurodevelopmental Disorders 2022 14:22
  34. Deficits in procedural memory have been proposed to account for the language deficits in specific language impairment (SLI). A key aspect of the procedural deficit hypothesis (PDH) account of SLI is that decla...

    Authors: Julia L. Evans, Mandy J. Maguire and Marisa L. Sizemore
    Citation: Journal of Neurodevelopmental Disorders 2022 14:20
  35. A wide variety of model systems and experimental techniques can provide insight into the structure and function of the human brain in typical development and in neurodevelopmental disorders. Unfortunately, thi...

    Authors: Alexander Li Cohen
    Citation: Journal of Neurodevelopmental Disorders 2022 14:19
  36. There is substantial variability in adaptive skills among individuals with Down syndrome. Few studies, however, have focused on the early developmental period or on the potential sources of variability in adap...

    Authors: Emily K. Schworer, Anna J. Esbensen, Vivian Nguyen, Lauren Bullard, Deborah J. Fidler, Lisa A. Daunhauer, Carolyn B. Mervis, Angela M. Becerra, Leonard Abbeduto and Angela John Thurman
    Citation: Journal of Neurodevelopmental Disorders 2022 14:18
  37. Attention deficit hyperactivity disorder (ADHD) is a common childhood behavioral condition that globally affects an average of around 5% of children and is associated with several adverse life outcomes. Comorb...

    Authors: Maria M. Lilja, Emil Sandblom, Paul Lichtenstein, Eva Serlachius, Clara Hellner, Jyoti Bhagia and Linda Halldner
    Citation: Journal of Neurodevelopmental Disorders 2022 14:17
  38. Although survival rates for infants born extremely preterm (gestation < 28 weeks) have improved significantly in recent decades, neurodevelopmental impairment remains a major concern. Children born extremely p...

    Authors: Weifang Liu, Quan Sun, Le Huang, Arjun Bhattacharya, Geoffery W. Wang, Xianming Tan, Karl C. K. Kuban, Robert M. Joseph, T. Michael O’Shea, Rebecca C. Fry, Yun Li and Hudson P. Santos Jr
    Citation: Journal of Neurodevelopmental Disorders 2022 14:16
  39. Neurofibromatosis type 1 (NF1) is considered a model of neurodevelopmental disorder because of the high frequency of learning deficits, especially developmental coordination disorder. In neurodevelopmental dis...

    Authors: Eloïse Baudou, Federico Nemmi, Patrice Peran, Fabien Cignetti, Melody Blais, Stéphanie Maziero, Jessica Tallet and Yves Chaix
    Citation: Journal of Neurodevelopmental Disorders 2022 14:15
  40. Triple X syndrome (47,XXX) is a relatively common sex chromosomal aneuploidy characterized by the presence of a supernumerary X chromosome in females and has been associated with a variable cognitive, behaviou...

    Authors: Chaira Serrarens, Maarten Otter, Bea C. M. Campforts, Constance T. R. M. Stumpel, Henk Jansma, Thérèse A. M. J. van Amelsvoort and Claudia Vingerhoets
    Citation: Journal of Neurodevelopmental Disorders 2022 14:14
  41. Tuberous sclerosis complex (TSC)–associated neuropsychiatric disorders (TAND) is an umbrella term for the behavioural, psychiatric, intellectual, academic, neuropsychological and psychosocial manifestations of...

    Authors: Stephanie Vanclooster, Stacey Bissell, Agnies M. van Eeghen, Nola Chambers, Liesbeth De Waele, Anna W. Byars, Jamie K. Capal, Sebastián Cukier, Peter Davis, Jennifer Flinn, Sugnet Gardner-Lubbe, Tanjala Gipson, Tosca-Marie Heunis, Dena Hook, J. Christopher Kingswood, Darcy A. Krueger…
    Citation: Journal of Neurodevelopmental Disorders 2022 14:13
  42. To explore the associations between childhood infections and subsequent diagnoses of autism spectrum disorder (ASD), intellectual disability (ID), and their co-occurrence.

    Authors: Håkan Karlsson, Hugo Sjöqvist, Martin Brynge, Renee Gardner and Christina Dalman
    Citation: Journal of Neurodevelopmental Disorders 2022 14:12
  43. Tbr1 encodes a T-box transcription factor and is considered a high confidence autism spectrum disorder (ASD) gene. Tbr1 is expressed in the postmitotic excitatory neurons of the deep neocortical layers 5 and 6. ...

    Authors: Siavash Fazel Darbandi, Andrew D. Nelson, Emily Ling-lin Pai, Kevin J. Bender and John L. R. Rubenstein
    Citation: Journal of Neurodevelopmental Disorders 2022 14:11
  44. There are currently no pharmacological therapies to address the intellectual disability associated with Down syndrome. Excitatory/inhibitory imbalance has been hypothesized to contribute to impairments in cogn...

    Authors: Celia Goeldner, Priya S. Kishnani, Brian G. Skotko, Julian Lirio Casero, Joerg F. Hipp, Michael Derks, Maria-Clemencia Hernandez, Omar Khwaja, Sian Lennon-Chrimes, Jana Noeldeke, Sabine Pellicer, Lisa Squassante, Jeannie Visootsak, Christoph Wandel, Paulo Fontoura and Xavier Liogier d’Ardhuy
    Citation: Journal of Neurodevelopmental Disorders 2022 14:10
  45. The concomitant role of the Central Executive, the Saliency and the Social Cognition networks in autism spectrum disorder (ASD) in demanding ecological tasks remains unanswered. We addressed this question usin...

    Authors: Susana Mouga, Isabel Catarina Duarte, Cátia Café, Daniela Sousa, Frederico Duque, Guiomar Oliveira and Miguel Castelo-Branco
    Citation: Journal of Neurodevelopmental Disorders 2022 14:9
  46. The genetic disorder tuberous sclerosis complex (TSC) is frequently accompanied by the development of neuropsychiatric disorders, including autism spectrum disorder and intellectual disability, with varying de...

    Authors: Anatoly Korotkov, Mark J. Luinenburg, Alessia Romagnolo, Till S. Zimmer, Jackelien van Scheppingen, Anika Bongaarts, Diede W. M. Broekaart, Jasper J. Anink, Caroline Mijnsbergen, Floor E. Jansen, Wim van Hecke, Wim G. Spliet, Peter C. van Rijen, Martha Feucht, Johannes A. Hainfellner, Pavel Krsek…
    Citation: Journal of Neurodevelopmental Disorders 2022 14:8
  47. Women who carry a premutation allele of the FMR1 gene are at increased vulnerability to an array of age-related symptoms and disorders, including age-related decline in select cognitive skills. However, the risk ...

    Authors: Jessica Klusek, Amanda Fairchild, Carly Moser, Marsha R. Mailick, Angela John Thurman and Leonard Abbeduto
    Citation: Journal of Neurodevelopmental Disorders 2022 14:7
  48. Differences in face processing in individuals with ASD is hypothesized to impact the development of social communication skills. This study aimed to characterize the neural correlates of face processing in 12-...

    Authors: Joshua Glauser, Carol L. Wilkinson, Laurel J. Gabard-Durnam, Boin Choi, Helen Tager-Flusberg and Charles A. Nelson
    Citation: Journal of Neurodevelopmental Disorders 2022 14:6
  49. RASopathies are genetic syndromes that result from pathogenic variants in the RAS-MAPK cellular signaling pathway. These syndromes, which include neurofibromatosis type 1, Noonan syndrome, cardiofaciocutaneous...

    Authors: Allison M. H. Foy, Rebekah L. Hudock, Ryan Shanley and Elizabeth I. Pierpont
    Citation: Journal of Neurodevelopmental Disorders 2022 14:5

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