Articles

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

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

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

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