Articles

Working memory deficits in high-functioning adolescents with autism spectrum disorders: neuropsychological and neuroimaging correlates

Working memory is a temporary storage system under attentional control. It is believed to play a central role in online processing of complex cognitive information and may also play a role in social cognition ...

Authors: Evelien M Barendse, Marc PH Hendriks, Jacobus FA Jansen, Walter H Backes, Paul AM Hofman, Geert Thoonen, Roy PC Kessels and Albert P Aldenkamp

Spontaneous and cued gaze-following in autism and Williams syndrome

From a young age the typical development of social functioning relies upon the allocation of attention to socially relevant information, which in turn allows experience at processing such information and thus ...

Authors: Deborah M Riby, Peter JB Hancock, Nicola Jones and Mary Hanley

Repetitive and self-injurious behaviors: associations with caudate volume in autism and fragile X syndrome

Following from previous work suggesting that neurobehavioral features distinguish fragile X and idiopathic variants of autism, we investigated the relationships between four forms of repetitive behavior (stere...

Authors: Jason J Wolff, Heather C Hazlett, Amy A Lightbody, Allan L Reiss and Joseph Piven

Autism and the broad autism phenotype: familial patterns and intergenerational transmission

Features of the Broad Autism Phenotype (BAP) are disproportionately prevalent in parents of a child with autism, highlighting familial patterns indicative of heritability. It is unclear, however, whether the p...

Authors: Noah J Sasson, Kristen SL Lam, Morgan Parlier, Julie L Daniels and Joseph Piven

Developmental patterns of DR6 in normal human hippocampus and in Down syndrome

Death receptor 6 (DR6) is highly expressed in the human brain: it has been shown to induce axon pruning and neuron death via distinct caspases and to mediate axonal degeneration through binding to N-terminal β...

Authors: Anand Iyer, Jackelien van Scheppingen, Jasper Anink, Ivan Milenkovic, Gabor G Kovács and Eleonora Aronica

A pilot open-label trial of minocycline in patients with autism and regressive features

Minocycline is a tetracycline derivative that readily crosses the blood brain barrier and appears to have beneficial effects on neuroinflammation, microglial activation and neuroprotection in a variety of neur...

Authors: Carlos A Pardo, Ashura Buckley, Audrey Thurm, Li-Ching Lee, Arun Azhagiri, David M Neville and Susan E Swedo

A quantitative homogeneous assay for fragile X mental retardation 1 protein

Hypermethylation of the fragile X mental retardation 1 gene FMR1 results in decreased expression of FMR1 protein FMRP, which is the underlying cause of Fragile X syndrome – an incurable neurological disorder char...

Authors: Gabi Schutzius, Dorothee Bleckmann, Sandra Kapps-Fouthier, Francesco di Giorgio, Bernd Gerhartz and Andreas Weiss

Social and emotional processing in Prader-Willi syndrome: genetic subtype differences

People with Prader-Willi syndrome (PWS) demonstrate social dysfunction and increased risk of autism spectrum disorder, especially those with the maternal uniparental disomy (mUPD) versus paternal deletion gene...

Authors: Alexandra P Key, Dorita Jones and Elisabeth M Dykens

Journal of Neurodevelopmental Disorders reviewer acknowledgement 2012

The editors of Journal of Neurodevelopmental Disorders would like to thank all of our reviewers who have contributed to the journal in volume 4 (2012). High quality and timely reviews are critical to the overall ...

Authors: Joseph Piven

Neurodevelopmental alcohol exposure elicits long-term changes to gene expression that alter distinct molecular pathways dependent on timing of exposure

Maternal alcohol consumption is known to adversely affect fetal neurodevelopment. While it is known that alcohol dose and timing play a role in the cognitive and behavioral changes associated with prenatal alc...

Authors: Morgan L Kleiber, Katarzyna Mantha, Randa L Stringer and Shiva M Singh

Development of neurodevelopmental disorders: a regulatory mechanism involving bromodomain-containing proteins

Neurodevelopmental disorders are classified as diseases that cause abnormal functions of the brain or central nervous system. Children with neurodevelopmental disorders show impaired language and speech abilit...

Authors: Junlin Li, Guifang Zhao and Xiaocai Gao

Gyrification, cortical and subcortical morphometry in neurofibromatosis type 1: an uneven profile of developmental abnormalities

Neurofibromatosis type 1 (NF1) is a monogenic disorder associated with cognitive impairments. In order to understand how mutations in the NF1 gene impact brain structure it is essential to characterize in detail ...

Authors: Inês R Violante, Maria J Ribeiro, Eduardo D Silva and Miguel Castelo-Branco

The regulatory function of social referencing in preschoolers with Down syndrome or Williams syndrome

An important developmental task is to learn to recognize another person as a source of information and to utilize this information as a method of learning about the surrounding world. This socially guided form...

Authors: Angela John Thurman and Carolyn B Mervis

Using infrared eye-tracking to explore ordinal numerical processing in toddlers with Fragile X Syndrome

Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability and non-idiopathic autism. Individuals with FXS present with a behavioral phenotype of specific and selective deficits in ...

Authors: Emily R Owen, Heidi A Baumgartner and Susan M Rivera

Toward epigenetic and gene regulation models of specific language impairment: looking for links among growth, genes, and impairments

Children with specific language impairment (SLI) are thought to have an inherited form of language impairment that spares other developmental domains. SLI shows strong heritability and recent linkage and assoc...

Authors: Mabel L Rice

Young adult male carriers of the fragile X premutation exhibit genetically modulated impairments in visuospatial tasks controlled for psychomotor speed

A previous study reported enhanced psychomotor speed, and subtle but significant cognitive impairments, modulated by age and by mutations in the fragile X mental retardation 1 (FMR1) gene in adult female fragi...

Authors: Ling M Wong, Naomi J Goodrich-Hunsaker, Yingratana McLennan, Flora Tassone, Danielle Harvey, Susan M Rivera and Tony J Simon

Perinatal testosterone exposure and autistic-like traits in the general population: a longitudinal pregnancy-cohort study

Increased prenatal testosterone exposure has been hypothesized as a mechanism underlying autism spectrum disorders (ASD). However, no studies have prospectively measured prenatal testosterone exposure and ASD....

Authors: Andrew JO Whitehouse, Eugen Mattes, Murray T Maybery, Cheryl Dissanayake, Michael Sawyer, Rachel M Jones, Craig E Pennell, Jeffrey A Keelan and Martha Hickey

The effect of intellectual ability on functional activation in a neurodevelopmental disorder: preliminary evidence from multiple fMRI studies in Williams syndrome

Williams syndrome (WS) is a rare genetic disorder caused by the deletion of approximately 25 genes at 7q11.23 that involves mild to moderate intellectual disability (ID). When using functional magnetic resonan...

Authors: Jennifer R Pryweller, Suzanne N Avery, Jennifer U Blackford, Elisabeth M Dykens and Tricia A Thornton-Wells

Fragile X syndrome: a pilot proton magnetic resonance spectroscopy study in premutation carriers

There is increasing evidence that neurodevelopmental differences in people with Fragile X syndrome (FraX) may be explained by differences in glutamatergic metabolism. Premutation carriers of FraX were original...

Authors: Brian P Hallahan, Eileen M Daly, Andrew Simmons, Caroline J Moore, Kieran C Murphy and Declan D G Murphy

Adolescents with prenatal cocaine exposure show subtle alterations in striatal surface morphology and frontal cortical volumes

Published structural neuroimaging studies of prenatal cocaine exposure (PCE) in humans have yielded somewhat inconsistent results, with several studies reporting no significant differences in brain structure b...

Authors: Florence Roussotte, Lindsay Soderberg, Tamara Warner, Katherine Narr, Catherine Lebel, Marylou Behnke, Fonda Davis-Eyler and Elizabeth Sowell

Of mice and monkeys: using non-human primate models to bridge mouse- and human-based investigations of autism spectrum disorders

The autism spectrum disorders (ASDs) arise from a diverse array of genetic and environmental origins that disrupt the typical developmental trajectory of neural connectivity and synaptogenesis. ASDs are marked...

Authors: Karli K Watson and Michael L Platt

Reward processing in autism: a thematic series

This thematic series presents theoretical and empirical papers focused on understanding autism from the perspective of reward processing deficits. Although the core symptoms of autism have not traditionally be...

Authors: Gabriel Dichter and Ralph Adolphs

Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings

This review summarizes evidence of dysregulated reward circuitry function in a range of neurodevelopmental and psychiatric disorders and genetic syndromes. First, the contribution of identifying a core mechani...

Authors: Gabriel S Dichter, Cara A Damiano and John A Allen

Long-term alterations of striatal parvalbumin interneurons in a rat model of early exposure to alcohol

Exposure to alcohol in utero is a known cause of mental retardation. Although a certain degree of motor impairment is always associated with fetal alcohol spectrum disorder, little is known about the neurobiologi...

Authors: Andrea De Giorgio, Sara E Comparini, Francesca Sangiuliano Intra and Alberto Granato

Social ‘wanting’ dysfunction in autism: neurobiological underpinnings and treatment implications

Most behavioral training regimens in autism spectrum disorders (ASD) rely on reward-based reinforcement strategies. Although proven to significantly increase both cognitive and social outcomes and successfully...

Authors: Gregor Kohls, Coralie Chevallier, Vanessa Troiani and Robert T Schultz

Abnormal social reward processing in autism as indexed by pupillary responses to happy faces

Individuals with Autism Spectrum Disorders (ASD) typically show impaired eye contact during social interactions. From a young age, they look less at faces than typically developing (TD) children and tend to av...

Authors: Leigh Sepeta, Naotsugu Tsuchiya, Mari S Davies, Marian Sigman, Susan Y Bookheimer and Mirella Dapretto

Preserved reward outcome processing in ASD as revealed by event-related potentials

Problems with reward system function have been posited as a primary difficulty in autism spectrum disorders. The current study examined an electrophysiological marker of feedback monitoring, the feedback-relat...

Authors: James C McPartland, Michael J Crowley, Danielle R Perszyk, Cora E Mukerji, Adam J Naples, Jia Wu and Linda C Mayes

Association testing of copy number variants in schizophrenia and autism spectrum disorders

Autism spectrum disorders and schizophrenia have been associated with an overlapping set of copy number variant loci, but the nature and degree of overlap in copy number variants (deletions compared to duplica...

Authors: Bernard J Crespi and Helen J Crofts

New approaches to investigating social gestures in autism spectrum disorder

The combination of economic games and human neuroimaging presents the possibility of using economic probes to identify biomarkers for quantitative features of healthy and diseased cognition. These probes span ...

Authors: Kenneth T Kishida, Jian Li, Justin Schwind and Pendleton Read Montague

Adults with autism spectrum disorders exhibit decreased sensitivity to reward parameters when making effort-based decisions

Efficient effort expenditure to obtain rewards is critical for optimal goal-directed behavior and learning. Clinical observation suggests that individuals with autism spectrum disorders (ASD) may show dysregul...

Authors: Cara R Damiano, Joseph Aloi, Michael Treadway, James W Bodfish and Gabriel S Dichter

Comparison of spatial working memory in children with prenatal alcohol exposure and those diagnosed with ADHD; A functional magnetic resonance imaging study

Alcohol related neurodevelopmental disorder (ARND) falls under the umbrella of fetal alcohol spectrum disorder (FASD), but individuals do not demonstrate the facial characteristics associated with fetal alcoho...

Authors: Krisztina L Malisza, Joan L Buss, R Bruce Bolster, Patricia Dreessen de Gervai, Lindsay Woods-Frohlich, Randy Summers, Christine A Clancy, Albert E Chudley and Sally Longstaffe

Social attention: a possible early indicator of efficacy in autism clinical trials

For decades, researchers have sought to clarify the nature of the social communication impairments in autism, highlighting impaired or atypical 'social attention' as a key measurable construct that helps to de...

Authors: Geraldine Dawson, Raphael Bernier and Robert H Ring

Response of neural reward regions to food cues in autism spectrum disorders

One hypothesis for the social deficits that characterize autism spectrum disorders (ASD) is diminished neural reward response to social interaction and attachment. Prior research using established monetary rew...

Authors: Carissa J Cascio, Jennifer H Foss-Feig, Jessica L Heacock, Cassandra R Newsom, Ronald L Cowan, Margaret M Benningfield, Baxter P Rogers and Aize Cao

Reduced social preferences in autism: evidence from charitable donations

People with autism have abnormal preferences, ranging from an apparent lack of preference for social stimuli to unusually strong preferences for restricted sets of highly idiosyncratic stimuli. Yet the profile...

Authors: Alice Lin, Karin Tsai, Antonio Rangel and Ralph Adolphs

Infant siblings and the investigation of autism risk factors

Infant sibling studies have been at the vanguard of autism spectrum disorders (ASD) research over the past decade, providing important new knowledge about the earliest emerging signs of ASD and expanding our u...

Authors: Craig J Newschaffer, Lisa A Croen, M Daniele Fallin, Irva Hertz-Picciotto, Danh V Nguyen, Nora L Lee, Carmen A Berry, Homayoon Farzadegan, H Nicole Hess, Rebecca J Landa, Susan E Levy, Maria L Massolo, Stacey C Meyerer, Sandra M Mohammed, McKenzie C Oliver, Sally Ozonoff…

Impaired multiple object tracking in children with chromosome 22q11.2 deletion syndrome

Chromosome 22q11.2 Deletion Syndrome (22q11.2DS) occurs in approximately 1:4,000 live births with a complex and variable presentation that includes medical, socioemotional and psychological symptoms with intel...

Authors: Margarita H Cabaral, Elliott A Beaton, Joel Stoddard and Tony J Simon

A cross-sectional study of the development of volitional control of spatial attention in children with chromosome 22q11.2 deletion syndrome

Chromosome 22q11.2 deletion syndrome (22q11.2DS) results from a 1.5- to 3-megabase deletion on the long arm of chromosome 22 and occurs in approximately 1 in 4000 live births. Previous studies indicate that ch...

Authors: Heather M Shapiro, Yukari Takarae, Danielle J Harvey, Margarita H Cabaral and Tony J Simon

Mechanism of nitrogen metabolism-related parameters and enzyme activities in the pathophysiology of autism

There is evidence that impaired metabolism play an important role in the etiology of many neuropsychiatric disorders. Although this has not been investigated to date, several recent studies proposed that nitro...

Authors: Ghada A Abu Shmais, Laila Y Al-Ayadhi, Abeer M Al-Dbass and Afaf K El-Ansary

Parental phonological memory contributes to prediction of outcome of late talkers from 20 months to 4 years: a longitudinal study of precursors of specific language impairment

Many children who are late talkers go on to develop normal language, but others go on to have longer-term language difficulties. In this study, we considered which factors were predictive of persistent problem...

Authors: Dorothy VM Bishop, Georgina Holt, Elizabeth Line, David McDonald, Sarah McDonald and Helen Watt

Feasibility, reliability, and clinical validity of the Test of Attentional Performance for Children (KiTAP) in Fragile X syndrome (FXS)

Attention and inhibition are core executive-function deficits in FRagile X syndrome (FXS). This pilot study evaluated the feasibility, reproducibility, and clinical relevance of the KiTAP, a computer-based pic...

Authors: Andrew Knox, Andrea Schneider, Floridette Abucayan, Crystal Hervey, Christina Tran, David Hessl and Elizabeth Berry-Kravis

Journal of Neurodevelopmental Disorders is now a fully open access journal

Authors: Joseph Piven

Language development after cochlear implantation: an epigenetic model

Growing evidence supports the notion that dynamic gene expression, subject to epigenetic control, organizes multiple influences to enable a child to learn to listen and to talk. Here, we review neurobiological...

Authors: Timothy M. Markman, Alexandra L. Quittner, Laurie S. Eisenberg, Emily A. Tobey, Donna Thal, John K. Niparko and Nae-Yuh Wang

A multimeasure approach to investigating affective appraisal of social information in Williams syndrome

People with Williams syndrome (WS) have been consistently described as showing heightened sociability, gregariousness, and interest in people, in conjunction with an uneven cognitive profile and mild to modera...

Authors: Daniela Plesa Skwerer, Emily Ammerman, Marie-Christine André, Lucia Ciciolla, Alex B. Fine and Helen Tager-Flusberg

Genetics and language: a neurobiological perspective on the missing link (-ing hypotheses)

The paper argues that both evolutionary and genetic approaches to studying the biological foundations of speech and language could benefit from fractionating the problem at a finer grain, aiming not to map gen...

Authors: David Poeppel

Contributions of phonological and verbal working memory to language development in adolescents with fragile X syndrome

Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability. Although language delays are frequently observed in FXS, neither the longitudinal course of language development nor its ...

Authors: Elizabeth I. Pierpont, Erica Kesin Richmond, Leonard Abbeduto, Sara T. Kover and W. Ted Brown

Epigenetic modifications may play a role in the developmental consequences of early life events

Many aspects of postnatal development are influenced by events before birth, including cognitive and language development. An adverse intrauterine environment, for example secondary to poor maternal nutritiona...

Authors: Frank H. Bloomfield

Dissection of genetic associations with language-related traits in population-based cohorts

Recent advances in the field of language-related disorders have led to the identification of candidate genes for specific language impairment (SLI) and dyslexia. Replication studies have been conducted in inde...

Authors: Silvia Paracchini

Prenatal exposure to β2-adrenergic receptor agonists and risk of autism spectrum disorders

This study aims to investigate the association between prenatal exposure to terbutaline and other β2 adrenergic receptor (B2AR) agonists and autism spectrum disorders (ASDs). The methodology used is a case–con...

Authors: Lisa A. Croen, Susan L. Connors, Marilyn Matevia, Yinge Qian, Craig Newschaffer and Andrew W. Zimmerman

Genetic approaches to understanding the causes of stuttering

Stuttering is a common but poorly understood speech disorder. Evidence accumulated over the past several decades has indicated that genetic factors are involved, and genetic linkage studies have begun to ident...

Authors: Dennis Drayna and Changsoo Kang

Turner syndrome and sexual differentiation of the brain: implications for understanding male-biased neurodevelopmental disorders

Turner syndrome (TS) is one of the most common sex chromosome abnormalities. Affected individuals often show a unique pattern of cognitive strengths and weaknesses and are at increased risk for a number of oth...

Authors: Rebecca Christine Knickmeyer and Marsha Davenport