Articles

Is theory of mind related to social dysfunction and emotional problems in 22q11.2 deletion syndrome (velo-cardio-facial syndrome)?

Social dysfunction is intrinsically involved in severe psychiatric disorders such as depression and psychosis and linked with poor theory of mind. Children with 22q11.2 deletion syndrome (22q11DS, or velo-card...

Authors: Linda E. Campbell, Angela F. Stevens, Kathryn McCabe, Lynne Cruickshank, Robin G. Morris, Declan G. M. Murphy and Kieran C. Murphy

Synaptic Wnt signaling—a contributor to major psychiatric disorders?

Wnt signaling is a key pathway that helps organize development of the nervous system. It influences cell proliferation, cell fate, and cell migration in the developing nervous system, as well as axon guidance,...

Authors: Nathan D. Okerlund and Benjamin N. R. Cheyette

Salivary biomarkers of HPA axis and autonomic activity in adults with intellectual disability with and without stereotyped and self-injurious behavior disorders

Salivary levels of biomarkers for the hypothalamic–pituitary–adrenal axis (HPA; cortisol) and sympatho-adreno-medullary system (SAM; α-amylase) were measured in 51 adults (57% male) with neurodevelopmental dis...

Authors: Frank J. Symons, Jason J. Wolff, Laura S. Stone, Tony K. Y. Lim and James W. Bodfish

Glutathione pathway gene variation and risk of autism spectrum disorders

Despite evidence that autism is highly heritable with estimates of 15 or more genes involved, few studies have directly examined associations of multiple gene interactions. Since inability to effectively comba...

Authors: Katherine Bowers, Qing Li, Joseph Bressler, Dimitrios Avramopoulos, Craig Newschaffer and M. Daniele Fallin

Cover art description

Authors: Joseph Piven

A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3

Autism spectrum disorder is a genetically complex and clinically heterogeneous neurodevelopmental disorder. A recent study by the Autism Genome Project (AGP) used 1M single-nucleotide polymorphism arrays to sh...

Authors: Alistair T. Pagnamenta, Richard Holt, Mohammed Yusuf, Dalila Pinto, Kirsty Wing, Catalina Betancur, Stephen W. Scherer, Emanuela V. Volpi and Anthony P. Monaco

List of reviewers for 2010

Authors:

Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism

The Autism Genome Project has assembled two large datasets originally designed for linkage analysis and genome-wide association analysis, respectively: 1,069 multiplex families genotyped on the Affymetrix 10 K...

Authors: Veronica J. Vieland, Joachim Hallmayer, Yungui Huang, Alistair T. Pagnamenta, Dalila Pinto, Hameed Khan, Anthony P. Monaco, Andrew D. Paterson, Stephen W. Scherer, James S. Sutcliffe and Peter Szatmari

Association of oxytocin receptor (OXTR) gene variants with multiple phenotype domains of autism spectrum disorder

Autism spectrum disorder (ASD) is characterized by core deficits in social behavior, communication, and behavioral flexibility. Several lines of evidence indicate that oxytocin, signaling through its receptor ...

Authors: Daniel B. Campbell, Dibyadeep Datta, Shaine T. Jones, Evon Batey Lee, James S. Sutcliffe, Elizabeth A. D. Hammock and Pat Levitt

Atypical development of the executive attention network in children with chromosome 22q11.2 deletion syndrome

Impairment in the executive control of attention has been found in youth with chromosome 22q11.2 deletion syndrome (22q11.2DS). However, how this impairment is modified by other factors, particularly age, is u...

Authors: Joel Stoddard, Laurel Beckett and Tony J. Simon

The benefit of directly comparing autism and schizophrenia for revealing mechanisms of social cognitive impairment

Autism and schizophrenia share a history of diagnostic conflation that was not definitively resolved until the publication of the DSM-III in 1980. Though now recognized as heterogeneous disorders with distinct...

Authors: Noah J. Sasson, Amy E. Pinkham, Kimberly L. H. Carpenter and Aysenil Belger

How might stress contribute to increased risk for schizophrenia in children with chromosome 22q11.2 deletion syndrome?

The most common human microdeletion occurs at chromosome 22q11.2. The associated syndrome (22q11.2DS) has a complex and variable phenotype with a high risk of schizophrenia. While the role of stress in the eti...

Authors: Elliott A. Beaton and Tony J. Simon

Clinical assessment of DSM-IV anxiety disorders in fragile X syndrome: prevalence and characterization

Fragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID). Anxiety and social withdrawal are considered core features of the FXS phenotype, yet there is limited diagnostic evid...

Authors: Lisa Cordeiro, Elizabeth Ballinger, Randi Hagerman and David Hessl

Angelman syndrome: advancing the research frontier of neurodevelopmental disorders

This report is a meeting summary of the 2010 Angelman Syndrome Foundation's scientific symposium on the neuroscience of UBE3A. Angelman syndrome is characterized by loss of speech, severe developmental delay, ...

Authors: Benjamin D. Philpot, Coral E. Thompson, Lisa Franco and Charles A. Williams

Replication of CNTNAP2 association with nonword repetition and support for FOXP2 association with timed reading and motor activities in a dyslexia family sample

Two functionally related genes, FOXP2 and CNTNAP2, influence language abilities in families with rare syndromic and common nonsyndromic forms of impaired language, respectively. We investigated whether these gene...

Authors: Beate Peter, Wendy H. Raskind, Mark Matsushita, Mark Lisowski, Tiffany Vu, Virginia W. Berninger, Ellen M. Wijsman and Zoran Brkanac

Combined linkage and linkage disequilibrium analysis of a motor speech phenotype within families ascertained for autism risk loci

Using behavioral and genetic information from the Autism Genetics Resource Exchange (AGRE) data set we developed phenotypes and investigated linkage and association for individuals with and without Autism Spec...

Authors: Judy F. Flax, Abby Hare, Marco A. Azaro, Veronica J. Vieland and Linda M. Brzustowicz

Cover art description

Authors: Joseph Piven

Electrophysiological study of local/global processing in Williams syndrome

Persons with Williams syndrome (WS) demonstrate pronounced deficits in visuo-spatial processing. The purpose of the current study was to examine the preferred level of perceptual analysis in young adults with ...

Authors: Alexandra P. F. Key and Elisabeth M. Dykens

Developmental malformation of the corpus callosum: a review of typical callosal development and examples of developmental disorders with callosal involvement

This review provides an overview of the involvement of the corpus callosum (CC) in a variety of developmental disorders that are currently defined exclusively by genetics, developmental insult, and/or behavior...

Authors: Lynn K. Paul

Regional cortical volumes and congenital heart disease: a MRI study in 22q11.2 deletion syndrome

Children with congenital heart disease (CHD) who survive surgery often present impaired neurodevelopment and qualitative brain anomalies. However, the impact of CHD on total or regional brain volumes only rece...

Authors: Marie Schaer, Bronwyn Glaser, Marie-Christine Ottet, Maude Schneider, Meritxell Bach Cuadra, Martin Debbané, Jean-Philippe Thiran and Stephan Eliez

Hyperactivity, impulsivity, and inattention in boys with cleft lip and palate: relationship to ventromedial prefrontal cortex morphology

The purpose of this study is to evaluate quantitative structural measures of the ventromedial prefrontal cortex (vmPFC) in boys with isolated clefts of the lip and/or palate (ICLP) relative to a comparison gro...

Authors: Peggy Nopoulos, Aaron D. Boes, Althea Jabines, Amy L. Conrad, John Canady, Lynn Richman and Jeffrey D. Dawson

Cerebellar-dependent delay eyeblink conditioning in adolescents with Specific Language Impairment

Cerebellar impairments have been hypothesized as part of the pathogenesis of Specific Language Impairment (SLI), although direct evidence of cerebellar involvement is sparse. Eyeblink Conditioning (EBC) is a l...

Authors: Adam B. Steinmetz and Mabel L. Rice

The genetic basis of non-syndromic intellectual disability: a review

Intellectual disability (ID), also referred to as mental retardation (MR), is frequently the result of genetic mutation. Where ID is present together with additional clinical symptoms or physical anomalies, th...

Authors: Liana Kaufman, Muhammad Ayub and John B. Vincent

Cover essay

Authors: J. Piven

Does bilateral damage to the human amygdala produce autistic symptoms?

A leading neurological hypothesis for autism postulates amygdala dysfunction. This hypothesis has considerable support from anatomical and neuroimaging studies. Individuals with bilateral amygdala lesions show...

Authors: Lynn K. Paul, Christina Corsello, Daniel Tranel and Ralph Adolphs

Development and validation of the Arizona Cognitive Test Battery for Down syndrome

Neurocognitive assessment in individuals with intellectual disabilities requires a well-validated test battery. To meet this need, the Arizona Cognitive Test Battery (ACTB) has been developed specifically to a...

Authors: Jamie O. Edgin, Gina M. Mason, Melissa J. Allman, George T. Capone, Iser DeLeon, Cheryl Maslen, Roger H. Reeves, Stephanie L. Sherman and Lynn Nadel

Using animal models of enriched environments to inform research on sensory integration intervention for the rehabilitation of neurodevelopmental disorders

The field of behavioral neuroscience has been successful in using an animal model of enriched environments for over five decades to measure the rehabilitative and preventative effects of sensory, cognitive and...

Authors: Stacey Reynolds, Shelly J. Lane and Lorie Richards

Cover essay

Authors: Joseph Piven

TPH2 polymorphisms and expression in Prader-Willi syndrome subjects with differing genetic subtypes

Prader-Willi syndrome (PWS) is a genetic imprinting disease that causes developmental and behavioral disturbances resulting from loss of expression of genes from the paternal chromosome 15q11-q13 region. In ab...

Authors: Rebecca S. Henkhaus, Douglas C. Bittel and Merlin G. Butler

Erratum to: Cover essay

Authors: Joseph Piven

Aging in fragile X syndrome

Many studies have focused on the behavior and cognitive problems in young patients with fragile X syndrome (FXS), but there are no studies about the problems in aging for those with FXS. The discovery of the f...

Authors: Agustini Utari, Evan Adams, Elizabeth Berry-Kravis, Alyssa Chavez, Felicia Scaggs, Lily Ngotran, Antoniya Boyd, David Hessl, Louise W. Gane, Flora Tassone, Nicole Tartaglia, Maureen A. Leehey and Randi J. Hagerman

Hippocampus specific iron deficiency alters competition and cooperation between developing memory systems

Iron deficiency (ID) is the most common gestational micronutrient deficiency in the world, targets the fetal hippocampus and striatum and results in long-term behavioral abnormalities. These structures primari...

Authors: Erik S. Carlson, Stephanie J. B. Fretham, Erica Unger, Michael O’Connor, Anna Petryk, Timothy Schallert, Raghavendra Rao, Ivan Tkac and Michael K. Georgieff

Maladaptive behaviors are linked with inefficient sleep in individuals with developmental disabilities

The purpose of the current study was to assess the relations between nightly sleep patterns and the frequency of daily maladaptive behavior. Antecedent and consequential relations between sleep patterns and be...

Authors: Mohammed R. Lenjavi, Michael A. Ahuja, Paul E. Touchette and Curt A. Sandman

Somatosensory processing in neurodevelopmental disorders

The purpose of this article is to review the role of somatosensory perception in typical development, its aberration in a range of neurodevelopmental disorders, and the potential relations between tactile proc...

Authors: Carissa J. Cascio

Rapid automatized naming as an index of genetic liability to autism

This study investigated rapid automatized naming (RAN) ability in high functioning individuals with autism and parents of individuals with autism. Findings revealed parallel patterns of performance in parents ...

Authors: Molly Losh, Denise Esserman and Joseph Piven

Enhanced prefrontal serotonin 5-HT_1A currents in a mouse model of Williams-Beuren syndrome with low innate anxiety

Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder caused by the hemizygous deletion of 28 genes on chromosome 7, including the general transcription factor GTF2IRD1. Mice either hemizygously (Gtf2ir...

Authors: Éliane Proulx, Edwin J. Young, Lucy R. Osborne and Evelyn K. Lambe

White matter microstructure in 22q11 deletion syndrome: a pilot diffusion tensor imaging and voxel-based morphometry study of children and adolescents

Young people with 22q11 Deletion Syndrome (22q11DS) are at substantial risk for developing psychosis and have significant differences in white matter (WM) volume. However, there are few in vivo studies of both...

Authors: Frederick Sundram, Linda E. Campbell, Rayna Azuma, Eileen Daly, Oswald J. N. Bloemen, Gareth J. Barker, Xavier Chitnis, Derek K. Jones, Therese van Amelsvoort, Kieran C. Murphy and Declan G. M. Murphy

Cover essay

Authors: Fredda Monroe

A preliminary study of orbitofrontal activation and hypersociability in Williams Syndrome

Individuals with Williams syndrome (WS) demonstrate an abnormally positive social bias. However, the neural substrates of this hypersociability, i.e., positive attribution bias and increased drive toward socia...

Authors: Masaru Mimura, Fumiko Hoeft, Motoichiro Kato, Nobuhisa Kobayashi, Kristen Sheau, Judith Piggot, Debra Mills, Albert Galaburda, Julie R. Korenberg, Ursula Bellugi and Allan L. Reiss

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

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

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

Cover essay

Authors:

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

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

Event-based prospective memory performance in autism spectrum disorder

The purpose of the present study was to investigate event-based prospective memory performance in individuals with autism spectrum disorder and to explore possible relations between laboratory-based prospectiv...

Authors: Mareike Altgassen, Maren Schmitz-Hübsch and Matthias Kliegel

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