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  1. Content type: Research

    Children with neurodevelopmental disorders (NDDs) exhibit a shared phenotype that involves executive dysfunctions including impairments in mental flexibility (MF). It is of interest to understand if this pheno...

    Authors: Alexandra Mogadam, Anne E. Keller, Paul D. Arnold, Russell Schachar, Jason P. Lerch, Evdokia Anagnostou and Elizabeth W. Pang

    Citation: Journal of Neurodevelopmental Disorders 2019 11:19

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  2. Content type: Research

    The SYNGAP1 gene encodes for a small GTPase-regulating protein critical to dendritic spine maturation and synaptic plasticity. Mutations have recently been identified to cause a breadth of neurodevelopmental diso...

    Authors: Andres Jimenez-Gomez, Sizhe Niu, Fabiola Andujar-Perez, Elizabeth A. McQuade, Alfred Balasa, David Huss, Rohini Coorg, Michael Quach, Sherry Vinson, Sarah Risen and J. Lloyd Holder Jr

    Citation: Journal of Neurodevelopmental Disorders 2019 11:18

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  3. Content type: Research

    De novo loss of function mutations in STXBP1 are a relatively common cause of epilepsy and intellectual disability (ID). However, little is known about the types and severities of behavioural features associated ...

    Authors: Sinéad O’Brien, Elise Ng-Cordell, Duncan E. Astle, Gaia Scerif and Kate Baker

    Citation: Journal of Neurodevelopmental Disorders 2019 11:17

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  4. Content type: Research

    Fragile X syndrome (FXS) is characterized by a range of developmental, neuropsychiatric, and behavioral symptoms that cause significant impairment in those with the disorder. Cannabidiol (CBD) holds promise as...

    Authors: Helen Heussler, Jonathan Cohen, Natalie Silove, Nancy Tich, Marcel O. Bonn-Miller, Wei Du, Carol O’Neill and Terri Sebree

    Citation: Journal of Neurodevelopmental Disorders 2019 11:16

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  5. Content type: Research

    Rett syndrome is a neurodevelopmental disorder caused by a mutation in the X-linked MECP2 gene. Individuals with Rett syndrome typically develop normally until around 18 months of age before undergoing a developm...

    Authors: Katherine J. Roche, Jocelyn J. LeBlanc, April R. Levin, Heather M. O’Leary, Lauren M. Baczewski and Charles A. Nelson

    Citation: Journal of Neurodevelopmental Disorders 2019 11:15

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  6. Content type: Research

    Reduced executive functions (EF) are commonly associated with developmental conditions (e.g., autism spectrum disorder, ASD; attention deficit/hyperactivity disorder, ADHD), although EF seems to be typical in ...

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

    Citation: Journal of Neurodevelopmental Disorders 2019 11:14

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  7. Content type: Research

    Phelan-McDermid syndrome (PMS) is a rare genetic disorder characterized by global developmental delay, intellectual disability (ID), autism spectrum disorder (ASD), and mild dysmorphisms associated with severa...

    Authors: Claudia Ismania Samogy-Costa, Elisa Varella-Branco, Frederico Monfardini, Helen Ferraz, Rodrigo Ambrósio Fock, Ricardo Henrique Almeida Barbosa, André Luiz Santos Pessoa, Ana Beatriz Alvarez Perez, Naila Lourenço, Maria Vibranovski, Ana Krepischi, Carla Rosenberg and Maria Rita Passos-Bueno

    Citation: Journal of Neurodevelopmental Disorders 2019 11:13

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  8. Content type: Research

    Facial mimicry is crucial in the recognition of others’ emotional state. Thus, the observation of others’ facial expressions activates the same neural representation of that affective state in the observer, al...

    Authors: Elisa De Stefani, Martina Ardizzi, Ylenia Nicolini, Mauro Belluardo, Anna Barbot, Chiara Bertolini, Gioacchino Garofalo, Bernardo Bianchi, Gino Coudé, Lynne Murray and Pier Francesco Ferrari

    Citation: Journal of Neurodevelopmental Disorders 2019 11:12

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  9. Content type: Review

    The development of an autistic brain is a highly complex process as evident from the involvement of various genetic and non-genetic factors in the etiology of the autism spectrum disorder (ASD). Despite being ...

    Authors: Santosh Kumar, Kurt Reynolds, Yu Ji, Ran Gu, Sunil Rai and Chengji J. Zhou

    Citation: Journal of Neurodevelopmental Disorders 2019 11:10

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  10. Content type: Research

    Visual abnormality is a common sensory impairment in autism spectrum disorder (ASD), which may cause behavioral problems. However, only a few studies exist on the neural features corresponding to the visual sy...

    Authors: Sho Aoki, Kuriko Kagitani-Shimono, Junko Matsuzaki, Ryuzo Hanaie, Mariko Nakanishi, Koji Tominaga, Yukie Nagai, Ikuko Mohri and Masako Taniike

    Citation: Journal of Neurodevelopmental Disorders 2019 11:9

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  11. Content type: Research

    The 22q11.2 deletion is associated with psychiatric and behavioural disorders, intellectual disability and multiple physical abnormalities. Recent research also indicates impaired coordination skills may be pa...

    Authors: Adam C. Cunningham, Liam Hill, Mark Mon-Williams, Kathryn J. Peall, David E. J. Linden, Jeremy Hall, Michael J. Owen and Marianne B. M. van den Bree

    Citation: Journal of Neurodevelopmental Disorders 2019 11:8

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  12. Content type: Review

    22q11.2 deletion syndrome (22q11DS), a copy number variation (CNV) disorder, occurs in approximately 1:4000 live births due to a heterozygous microdeletion at position 11.2 (proximal) on the q arm of human chr...

    Authors: Zahra Motahari, Sally Ann Moody, Thomas Michael Maynard and Anthony-Samuel LaMantia

    Citation: Journal of Neurodevelopmental Disorders 2019 11:7

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  13. Content type: Research

    Depressive symptomology and low affect are comparatively common in individuals with genetic disorders such as Cornelia de Lange syndrome. However, lifespan trajectories and associated person characteristics ha...

    Authors: Laura Groves, Joanna Moss, Hayley Crawford, Lisa Nelson, Chris Stinton, Gursharan Singla and Chris Oliver

    Citation: Journal of Neurodevelopmental Disorders 2019 11:6

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  14. Content type: Research

    Individuals with fragile X syndrome (FXS) typically demonstrate profound executive function (EF) deficits that interfere with learning, socialization, and emotion regulation. We completed the first large, non-...

    Authors: David Hessl, Julie B. Schweitzer, Danh V. Nguyen, Yingratana A. McLennan, Cindy Johnston, Ryan Shickman and Yanjun Chen

    Citation: Journal of Neurodevelopmental Disorders 2019 11:4

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  15. Content type: Research

    Learning through social observation (i.e., watching other people interact) lays the foundation for later social skills and social cognition. However, social situations are often complex, and humans are only ca...

    Authors: Julia Parish-Morris, Ashley A. Pallathra, Emily Ferguson, Brenna B. Maddox, Alison Pomykacz, Leat S. Perez, Leila Bateman, Juhi Pandey, Robert T. Schultz and Edward S. Brodkin

    Citation: Journal of Neurodevelopmental Disorders 2019 11:5

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  16. Content type: Research

    Ultra-rare genetic variants, including non-recurrent copy number variations (CNVs) affecting important dosage-sensitive genes, are important contributors to the etiology of neurodevelopmental disorders (NDDs)....

    Authors: Gregory Costain, Susan Walker, Bob Argiropoulos, Danielle A. Baribeau, Anne S. Bassett, Erik Boot, Koen Devriendt, Barbara Kellam, Christian R. Marshall, Aparna Prasad, Moises A. Serrano, D. James Stavropoulos, Hope Twede, Joris R. Vermeesch, Jacob A. S. Vorstman and Stephen W. Scherer

    Citation: Journal of Neurodevelopmental Disorders 2019 11:3

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  17. Content type: Research

    Individuals with premutation alleles of the fragile X mental retardation 1 (FMR1) gene are at risk of developing fragile X-associated tremor/ataxia syndrome (FXTAS) during aging. Characterization of motor issues ...

    Authors: Zheng Wang, Pravin Khemani, Lauren M. Schmitt, Su Lui and Matthew W. Mosconi

    Citation: Journal of Neurodevelopmental Disorders 2019 11:2

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  18. Content type: Research

    Fragile X syndrome (FXS) is the leading inherited cause of autism spectrum disorder, but there remains debate regarding the clinical presentation of social deficits in FXS. The aim of this study was to compare...

    Authors: Michael P. Hong, Eleanor M. Eckert, Ernest V. Pedapati, Rebecca C. Shaffer, Kelli C. Dominick, Logan K. Wink, John A. Sweeney and Craig A. Erickson

    Citation: Journal of Neurodevelopmental Disorders 2019 11:1

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  19. Content type: Research

    Attention-deficit/hyperactivity disorder (ADHD) is associated with substance use disorders (SUD; alcohol and/or drug dependence) and nicotine dependence. This study aims to advance our knowledge about the asso...

    Authors: Shahrzad Ilbegi, Annabeth P. Groenman, Arnt Schellekens, Catharina A. Hartman, Pieter J. Hoekstra, Barbara Franke, Stephen V. Faraone, Nanda N. J. Rommelse and Jan K. Buitelaar

    Citation: Journal of Neurodevelopmental Disorders 2018 10:42

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  20. Content type: Research

    Although autism spectrum disorder (ASD) is characterized by impairments in social communication and the presence of repetitive behavior and/or restricted interests, there is evidence that motor impairments may...

    Authors: Lori-Ann R. Sacrey, Lonnie Zwaigenbaum, Susan Bryson, Jessica Brian and Isabel M. Smith

    Citation: Journal of Neurodevelopmental Disorders 2018 10:41

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  21. Content type: Review

    Epilepsy affects 2.2 million adults in the USA, with 1 in 26 people developing epilepsy at some point in their lives. Temporal lobe epilepsy (TLE) is the most common form of focal epilepsy as medial structures...

    Authors: Leigh N. Sepeta, Madison M. Berl and William Davis Gaillard

    Citation: Journal of Neurodevelopmental Disorders 2018 10:40

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  22. Content type: Review

    There is currently a renaissance of interest in the many functions of cerebrospinal fluid (CSF). Altered flow of CSF, for example, has been shown to impair the clearance of pathogenic inflammatory proteins inv...

    Authors: Mark D. Shen

    Citation: Journal of Neurodevelopmental Disorders 2018 10:39

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  23. Content type: Review

    Despite advances in antenatal and neonatal care, preterm birth remains a leading cause of neurological disabilities in children. Infants born prematurely, particularly those delivered at the earliest gestation...

    Authors: Cynthia E. Rogers, Rachel E. Lean, Muriah D. Wheelock and Christopher D. Smyser

    Citation: Journal of Neurodevelopmental Disorders 2018 10:38

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  24. Content type: Research

    There is a substantial literature on the neurobiology of reading and dyslexia. Differences are often described in terms of individual regions or individual cognitive processes. However, there is a growing appr...

    Authors: Stephen K. Bailey, Katherine S. Aboud, Tin Q. Nguyen and Laurie E. Cutting

    Citation: Journal of Neurodevelopmental Disorders 2018 10:37

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  25. Content type: Research

    Attention-deficit/hyperactivity disorder (ADHD) is associated with atypical fronto-subcortical neural circuitry and heightened delay discounting, or a stronger preference for smaller, immediate rewards over la...

    Authors: Keri S. Rosch, Stewart H. Mostofsky and Mary Beth Nebel

    Citation: Journal of Neurodevelopmental Disorders 2018 10:34

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  26. Content type: Review

    Motor delays and impairments in autism spectrum disorders (ASD) are extremely common and often herald the emergence of pervasive atypical development. Clinical accounts of ASD and standardized measures of moto...

    Authors: Rujuta B. Wilson, James T. McCracken, Nicole J. Rinehart and Shafali S. Jeste

    Citation: Journal of Neurodevelopmental Disorders 2018 10:33

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  27. Content type: Research

    Research on neurobiological markers of autism spectrum disorder (ASD) has been elusive. However, radionuclide studies of cerebral blood flow (CBF) have shown decreased blood flow (hypoperfusion) in the tempora...

    Authors: Benjamin E. Yerys, John D. Herrington, Gregory K. Bartley, Hua-Shan Liu, John A. Detre and Robert T. Schultz

    Citation: Journal of Neurodevelopmental Disorders 2018 10:32

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  28. Content type: Research

    Emotion recognition dysfunction has been reported in both autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD). This suggests that emotion recognition is a cross-disorder trait t...

    Authors: Francesca Waddington, Catharina Hartman, Yvette de Bruijn, Martijn Lappenschaar, Anoek Oerlemans, Jan Buitelaar, Barbara Franke and Nanda Rommelse

    Citation: Journal of Neurodevelopmental Disorders 2018 10:31

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  29. Content type: Research

    XYY syndrome is a sex chromosome aneuploidy that occurs in ~ 1/850 male births and is associated with increased risk for neurodevelopmental difficulties. However, the profile of neurodevelopmental impairments,...

    Authors: Lisa Joseph, Cristan Farmer, Colby Chlebowski, Laura Henry, Ari Fish, Catherine Mankiw, Anastasia Xenophontos, Liv Clasen, Bethany Sauls, Jakob Seidlitz, Jonathan Blumenthal, Erin Torres, Audrey Thurm and Armin Raznahan

    Citation: Journal of Neurodevelopmental Disorders 2018 10:30

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  30. Content type: Research

    Language delay is extremely common in children with autism spectrum disorder (ASD), yet it is unclear whether measurable variation in early language is associated with genetic liability for ASD. Assessment of ...

    Authors: N Marrus, L P Hall, S J Paterson, J T Elison, J J Wolff, M R Swanson, J Parish-Morris, A T Eggebrecht, J R Pruett Jr., H C Hazlett, L Zwaigenbaum, S Dager, A M Estes, R T Schultz, K N Botteron, J Piven…

    Citation: Journal of Neurodevelopmental Disorders 2018 10:29

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  31. Content type: Research

    Autism spectrum disorder (ASD) is characterized by atypical behaviors in social environments and in reaction to changing events. While this dyad of symptoms is at the core of the pathology along with atypical ...

    Authors: J. Charpentier, K. Kovarski, E. Houy-Durand, J. Malvy, A. Saby, F. Bonnet-Brilhault, M. Latinus and M. Gomot

    Citation: Journal of Neurodevelopmental Disorders 2018 10:28

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  32. Content type: Research

    Face processing has been found to be impaired in autism spectrum disorders (ASD). One hypothesis is that individuals with ASD engage in piecemeal compared to holistic face processing strategies. To investigate...

    Authors: Sandra Naumann, Ulrike Senftleben, Megha Santhosh, James McPartland and Sara Jane Webb

    Citation: Journal of Neurodevelopmental Disorders 2018 10:27

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  33. Content type: Research

    Previous research links social difficulties to atypical face exploration in 22q11.2 deletion syndrome (22q11.2DS). Two types of face processing are distinguished: configural (CFP) and featural (FFP). CFP devel...

    Authors: Alexandra Zaharia, Maude Schneider, Bronwyn Glaser, Martina Franchini, Sarah Menghetti, Marie Schaer, Martin Debbané and Stephan Eliez

    Citation: Journal of Neurodevelopmental Disorders 2018 10:26

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  34. Content type: Research

    Individuals diagnosed with fragile X syndrome (FXS), the most common known inherited form of intellectual disability, commonly exhibit significant impairments in social gaze behavior during interactions with o...

    Authors: Caitlin E. Gannon, Tobias C. Britton, Ellen H. Wilkinson and Scott S. Hall

    Citation: Journal of Neurodevelopmental Disorders 2018 10:25

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  35. Content type: Research

    Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurodevelopmental disorders that are caused by abnormal expression of imprinted genes in the 15q11-13 region. Dysregulation of genes located in this ...

    Authors: Emma K. Baker, David E. Godler, Minh Bui, Chriselle Hickerton, Carolyn Rogers, Mike Field, David J. Amor and Lesley Bretherton

    Citation: Journal of Neurodevelopmental Disorders 2018 10:24

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  36. Content type: Research

    Sensory processing deficits are frequently co-morbid with neurodevelopmental disorders. For example, patients with fragile X syndrome (FXS), caused by a silencing of the FMR1 gene, exhibit impairments in visual f...

    Authors: Rachel B. Kay, Nicole A. Gabreski and Jason W. Triplett

    Citation: Journal of Neurodevelopmental Disorders 2018 10:23

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  37. 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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  38. 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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  39. 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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  40. 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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  41. 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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  42. 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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  43. 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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  44. 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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  45. 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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  46. 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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  47. 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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