Articles

Role for TGF-β superfamily signaling in telencephalic GABAergic neuron development

Signaling mechanisms mediated by the Transforming Growth Factor-β (TGF-β) superfamily regulate a variety of developmental processes. Here we show that components of both bone morphogenetic protein/growth diffe...

Authors: Mario Maira, Jason E. Long, Amie Y. Lee, John L. R. Rubenstein and Stefano Stifani

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Infant head growth in male siblings of children with and without autism spectrum disorders

Previous research has indicated that children with autism exhibit accelerated head growth (HG) in infancy, although the timing of acceleration varies between studies. We examined infant HG trajectory as a cand...

Authors: John N. Constantino, Palak Majmudar, Alex Bottini, Molly Arvin, Yamini Virkud, Paul Simons and Edward L. Spitznagel

Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications

Microdeletions and microduplications encompassing a ~593-kb region of 16p11.2 have been implicated as one of the most common genetic causes of susceptibility to autism/autism spectrum disorder (ASD). We report...

Authors: Jill A. Rosenfeld, Justine Coppinger, Bassem A. Bejjani, Santhosh Girirajan, Evan E. Eichler, Lisa G. Shaffer and Blake C. Ballif

Variable phenotypic expression of a MECP2 mutation in a family

We report a three generation family in which five members, three females and two males, demonstrate a 44 bp deletion (1164–1207del44) in the MECP2 gene associated with Rett syndrome, leading to a truncation of th...

Authors: Kimberly Augenstein, Jane B. Lane, Antony Horton, Carolyn Schanen and Alan K. Percy

Verbal short-term memory deficits in Down syndrome: phonological, semantic, or both?

The current study examined the phonological and semantic contributions to the verbal short-term memory (VSTM) deficit in Down syndrome (DS) by experimentally manipulating the phonological and semantic demands ...

Authors: Nancy Raitano Lee, Bruce F. Pennington and Janice M. Keenan

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Authors: Patricia Leighten

Choline transporter gene variation is associated with attention-deficit hyperactivity disorder

The neurotransmitter acetylcholine (ACh) plays a critical role in brain circuits mediating motor control, attention, learning and memory. Cholinergic dysfunction is associated with multiple brain disorders inc...

Authors: Brett A. English, Maureen K. Hahn, Ian R. Gizer, Michelle Mazei-Robison, Angela Steele, Daniel M. Kurnik, Mark A. Stein, Irwin D. Waldman and Randy D. Blakely

Convergent genetic linkage and associations to language, speech and reading measures in families of probands with Specific Language Impairment

We analyzed genetic linkage and association of measures of language, speech and reading phenotypes to candidate regions in a single set of families ascertained for SLI. Sib-pair and family-based analyses were ...

Authors: Mabel L. Rice, Shelley D. Smith and Javier Gayán

Autistic behavior in boys with fragile X syndrome: social approach and HPA-axis dysfunction

The primary goal of this study was to examine environmental and neuroendocrine factors that convey increased risk for elevated autistic behavior in boys with Fragile X syndrome (FXS). This study involves three...

Authors: Jane E. Roberts, Megan A. Clarke, Kaitlyn Alcorn, John C. Carter, Anna C. J. Long and Walter E. Kaufmann

Developmental learning impairments in a rodent model of nodular heterotopia

Developmental malformations of neocortex—including microgyria, ectopias, and periventricular nodular heterotopia (PNH)—have been associated with language learning impairments in humans. Studies also show that ...

Authors: Steven W. Threlkeld, Courtney A. Hill, Caitlin E. Cleary, Dongnhu T. Truong, Glenn D. Rosen and R. Holly Fitch

Modulation of dendritic spine development and plasticity by BDNF and vesicular trafficking: fundamental roles in neurodevelopmental disorders associated with mental retardation and autism

The process of axonal and dendritic development establishes the synaptic circuitry of the central nervous system (CNS) and is the result of interactions between intrinsic molecular factors and the external env...

Authors: Christopher A. Chapleau, Jennifer L. Larimore, Anne Theibert and Lucas Pozzo-Miller

Reduced conditioned fear response in mice that lack Dlx1 and show subtype-specific loss of interneurons

The inhibitory GABAergic system has been implicated in multiple neuropsychiatric diseases such as schizophrenia and autism. The Dlx homeobox transcription factor family is essential for development and function o...

Authors: Rong Mao, Damon T. Page, Irina Merzlyak, Carol Kim, Laurence H. Tecott, Patricia H. Janak, John L. R. Rubenstein and Mriganka Sur

Common circuit defect of excitatory-inhibitory balance in mouse models of autism

One unifying explanation for the complexity of Autism Spectrum Disorders (ASD) may lie in the disruption of excitatory/inhibitory (E/I) circuit balance during critical periods of development. We examined wheth...

Authors: Nadine Gogolla, Jocelyn J. LeBlanc, Kathleen B. Quast, Thomas C. Südhof, Michela Fagiolini and Takao K. Hensch

Medical conditions in autism spectrum disorders

Autism spectrum disorder (ASD) is a behaviourally defined syndrome where the etiology and pathophysiology is only partially understood. In a small proportion of children with the condition, a specific medical ...

Authors: Patrick F. Bolton

Adult reversal of cognitive phenotypes in neurodevelopmental disorders

Recent findings in mice suggest that it is possible to reverse certain neurodevelopmental disorders in adults. Changes in development, previously thought to be irreparable in adults, were believed to underlie ...

Authors: Alcino J. Silva and Dan Ehninger

The pathophysiology of restricted repetitive behavior

Restricted, repetitive behaviors (RRBs) are heterogeneous ranging from stereotypic body movements to rituals to restricted interests. RRBs are most strongly associated with autism but occur in a number of othe...

Authors: Mark Lewis and Soo-Jeong Kim

Modeling rare gene variation to gain insight into the oldest biomarker in autism: construction of the serotonin transporter Gly56Ala knock-in mouse

Alterations in peripheral and central indices of serotonin (5-hydroxytryptamine, 5-HT) production, storage and signaling have long been associated with autism. The 5-HT transporter gene (HTT, SERT, SLC6A4) has re...

Authors: Jeremy Veenstra-VanderWeele, Tammy N. Jessen, Brent J. Thompson, Michelle Carter, Harish C. Prasad, Jennifer A. Steiner, James. S. Sutcliffe and Randy D. Blakely

Cover essay

Authors: Mark Antliff

Deficient NRG1-ERBB signaling alters social approach: relevance to genetic mouse models of schizophrenia

Growth factor Neuregulin 1 (NRG1) plays an essential role in development and organization of the cerebral cortex. NRG1 and its receptors, ERBB3 and ERBB4, have been implicated in genetic susceptibility for sch...

Authors: Sheryl S. Moy, H. Troy Ghashghaei, Randal J. Nonneman, Jill M. Weimer, Yukako Yokota, Daekee Lee, Cary Lai, David W. Threadgill and E. S. Anton

Novel copy number variants in children with autism and additional developmental anomalies

Autism is a neurodevelopmental disorder characterized by three core symptom domains: ritualistic-repetitive behaviors, impaired social interaction, and impaired communication and language development. Recent s...

Authors: L. K. Davis, K. J. Meyer, D. S. Rudd, A. L. Librant, E. A. Epping, V. C. Sheffield and T. H. Wassink

A functional polymorphism of the brain derived neurotrophic factor gene and cortical anatomy in autism spectrum disorder

Autism Spectrum Disorder (ASD) is associated with both (i) post-mortem and neuroimaging evidence of abnormal cortical development, and (ii) altered signalling in Brain Derived Neurotrophic Factor (BDNF) pathwa...

Authors: Armin Raznahan, Roberto Toro, Petra Proitsi, John Powell, Tomas Paus, Patrick F. Bolton and Declan G. M. Murphy

Fragile x syndrome and autism: from disease model to therapeutic targets

Autism is an umbrella diagnosis with several different etiologies. Fragile X syndrome (FXS), one of the first identified and leading causes of autism, has been modeled in mice using molecular genetic manipulat...

Authors: Gül Dölen and Mark F. Bear

Tuberous sclerosis complex: everything old is new again

Tuberous Sclerosis Complex (TSC) is a multiorgan genetic disease caused by loss of function of either the TSC1 (encodes hamartin) or TSC2 (encodes tuberin) genes. Patients with TSC have benign tumors (hamartomas)...

Authors: Kevin C. Ess

Prevalence of treated autism spectrum disorders in Aruba

To study autism outside of a narrow range of settings previously studied, and in a particularly distinctive setting in the Caribbean. The aim of the Aruba Autism Project was to determine the prevalence of auti...

Authors: Ingrid D. C. van Balkom, Michaeline Bresnahan, Marrit F. Vogtländer, Daphne van Hoeken, Ruud B. Minderaa, Ezra Susser and Hans W. Hoek

Rightward hemispheric asymmetries in auditory language cortex in children with autistic disorder: an MRI investigation

Purpose: determine if language disorder in children with autistic disorder (AD) corresponds to abnormalities in hemispheric asymmetries in auditory language cortex. Methods: MRI morphometric study in children ...

Authors: Nicole M. Gage, Jenifer Juranek, Pauline A. Filipek, Kathryn Osann, Pamela Flodman, A. Lisette Isenberg and M. Anne Spence

Functional magnetic resonance imaging outcomes from a comprehensive magnetic resonance study of children with fetal alcohol spectrum disorders

A comprehensive neuropsychological/psychiatric, MR imaging, (MRI), MR spectroscopy (MRS), and functional MRI (fMRI) assessment was administered to children with fetal alcohol spectrum disorders (FASD) to deter...

Authors: Susan J. Astley, Elizabeth H. Aylward, Heather Carmichael Olson, Kimberly Kerns, Allison Brooks, Truman E. Coggins, Julian Davies, Susan Dorn, Beth Gendler, Tracy Jirikowic, Paul Kraegel, Kenneth Maravilla and Todd Richards

Teasing apart the heterogeneity of autism: Same behavior, different brains in toddlers with fragile X syndrome and autism

To examine brain volumes in substructures associated with the behavioral features of children with FXS compared to children with idiopathic autism and controls. A cross-sectional study of brain substructures w...

Authors: Heather Cody Hazlett, Michele D. Poe, Amy A. Lightbody, Guido Gerig, James R. MacFall, Allison K. Ross, James Provenzale, Arianna Martin, Allan L. Reiss and Joseph Piven

Visuospatial working memory in children and adolescents with 22q11.2 deletion syndrome; an fMRI study

22q11.2 deletion syndrome (22q11DS) is a genetic disorder associated with a microdeletion of chromosome 22q11. In addition to high rates of neuropsychiatric disorders such as schizophrenia and attention defici...

Authors: Rayna Azuma, Eileen M. Daly, Linda E. Campbell, Angela F. Stevens, Quinton Deeley, Vincent Giampietro, Michael J. Brammer, Beate Glaser, Fiona Z. Ambery, Robin G. Morris, Steven C. R. Williams, Michael J. Owen, Declan G. M. Murphy and Kieran C. Murphy

The neural basis of auditory temporal discrimination in girls with fragile X syndrome

Fragile X syndrome (FXS) is a common genetic disorder in which temporal processing may be impaired. To our knowledge however, no studies have examined the neural basis of temporal discrimination in individuals...

Authors: Scott S. Hall, Elizabeth Walter, Elena Sherman, Fumiko Hoeft and Allan L. Reiss

Foreword for inaugural issue of Journal of Neurodevelopmental Disorders

Authors: Thomas R. Insel

Anxiety disorders in children with Williams syndrome, their mothers, and their siblings: Implications for the etiology of anxiety disorders

This study examines the prevalence of anxiety disorders in children with Williams syndrome (WS), their sibling closest in age, and their mothers as well as the predictors of anxiety in these groups. The preval...

Authors: Ovsanna Leyfer, Janet Woodruff-Borden and Carolyn B. Mervis

Cover essay

Authors: Mark Antliff

A solution to limitations of cognitive testing in children with intellectual disabilities: the case of fragile X syndrome

Intelligence testing in children with intellectual disabilities (ID) has significant limitations. The normative samples of widely used intelligence tests, such as the Wechsler Intelligence Scales, rarely inclu...

Authors: David Hessl, Danh V. Nguyen, Cherie Green, Alyssa Chavez, Flora Tassone, Randi J. Hagerman, Damla Senturk, Andrea Schneider, Amy Lightbody, Allan L. Reiss and Scott Hall

Deficient maternal care resulting from immunological stress during pregnancy is associated with a sex-dependent enhancement of conditioned fear in the offspring

Activation of maternal stress response systems during pregnancy has been associated with altered postpartum maternal care and subsequent abnormalities in the offspring’s brain and behavioral development. It re...

Authors: Severin Schwendener, Urs Meyer and Joram Feldon