Articles

A developmental, longitudinal investigation of autism phenotypic profiles in fragile X syndrome

Targeting overlapping behavioral phenotypes in neurogenetic disorders can help elucidate gene-behavior relationships. Fragile X syndrome (FXS) and autism spectrum disorder (ASD) have been studied as a model fo...

Authors: Michelle Lee, Gary E. Martin, Elizabeth Berry-Kravis and Molly Losh

Wnt signaling networks in autism spectrum disorder and intellectual disability

Genetic factors play a major role in the risk for neurodevelopmental disorders such as autism spectrum disorders (ASDs) and intellectual disability (ID). The underlying genetic factors have become better under...

Authors: Vickie Kwan, Brianna K. Unda and Karun K. Singh

Functional characterization of rare FOXP2 variants in neurodevelopmental disorder

Heterozygous disruption of FOXP2 causes a rare form of speech and language impairment. Screens of the FOXP2 sequence in individuals with speech/language-related disorders have identified several rare protein-alte...

Authors: Sara B. Estruch, Sarah A. Graham, Swathi M. Chinnappa, Pelagia Deriziotis and Simon E. Fisher

Postural orientation and equilibrium processes associated with increased postural sway in autism spectrum disorder (ASD)

Increased postural sway has been repeatedly documented in children with autism spectrum disorder (ASD). Characterizing the control processes underlying this deficit, including postural orientation and equilibr...

Authors: Zheng Wang, Rami R. Hallac, Kaitlin C. Conroy, Stormi P. White, Alex A. Kane, Amy L. Collinsworth, John A. Sweeney and Matthew W. Mosconi

Associations between social cognition, skills, and function and subclinical negative and positive symptoms in 22q11.2 deletion syndrome

Identification of the early signs of schizophrenia would be a major achievement for the early intervention and prevention strategies in psychiatry. Social impairments are defining features of schizophrenia. Im...

Authors: A. Vangkilde, J. R. M. Jepsen, H. Schmock, C. Olesen, S. Arnarsdóttir, W. F. C. Baaré, K. J. Plessen, M. Didriksen, H. R. Siebner, T. Werge and L. Olsen

Visual memory profile in 22q11.2 microdeletion syndrome: are there differences in performance and neurobiological substrates between tasks linked to ventral and dorsal visual brain structures? A cross-sectional and longitudinal study

Children affected by the 22q11.2 deletion syndrome (22q11.2DS) have a specific neuropsychological profile with strengths and weaknesses in several cognitive domains. Specifically, previous evidence has shown t...

Authors: Mathilde Bostelmann, Maude Schneider, Maria Carmela Padula, Johanna Maeder, Marie Schaer, Elisa Scariati, Martin Debbané, Bronwyn Glaser, Sarah Menghetti and Stephan Eliez

Developmental profiles of infants with an FMR1 premutation

Emerging evidence suggests that a subset of FMR1 premutation carriers is at an increased risk for cognitive, emotional, and medical conditions. However, because the premutation is rarely diagnosed at birth, the e...

Authors: Anne C. Wheeler, John Sideris, Randi Hagerman, Elizabeth Berry-Kravis, Flora Tassone and Donald B. Bailey Jr.

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

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

Typical visual search performance and atypical gaze behaviors in response to faces in Williams syndrome

Evidence indicates that individuals with Williams syndrome (WS) exhibit atypical attentional characteristics when viewing faces. However, the dynamics of visual attention captured by faces remain unclear, espe...

Authors: Masahiro Hirai, Yukako Muramatsu, Seiji Mizuno, Naoko Kurahashi, Hirokazu Kurahashi and Miho Nakamura

Effects of early-life exposure to THIP on phenotype development in a mouse model of Rett syndrome

Rett syndrome (RTT) is a neurodevelopmental disorder caused mostly by disruptions in the MECP2 gene. MECP2-null mice show imbalances in neuronal excitability and synaptic communications. Several previous studies ...

Authors: Weiwei Zhong, Christopher Mychal Johnson, Yang Wu, Ningren Cui, Hao Xing, Shuang Zhang and Chun Jiang

Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation

Obsessive-compulsive disorder (OCD) is a heterogeneous neuropsychiatric condition, thought to have a significant genetic component. When onset occurs in childhood, affected individuals generally exhibit differ...

Authors: Matthew J. Gazzellone, Mehdi Zarrei, Christie L. Burton, Susan Walker, Mohammed Uddin, S. M. Shaheen, Julie Coste, Rageen Rajendram, Reva J. Schachter, Marlena Colasanto, Gregory L. Hanna, David R. Rosenberg, Noam Soreni, Kate D. Fitzgerald, Christian R. Marshall, Janet A. Buchanan…

The NIH Toolbox Cognitive Battery for intellectual disabilities: three preliminary studies and future directions

Recent advances in understanding molecular and synaptic mechanisms of intellectual disabilities (ID) in fragile X syndrome (FXS) and Down syndrome (DS) through animal models have led to targeted controlled tri...

Authors: David Hessl, Stephanie M. Sansone, Elizabeth Berry-Kravis, Karen Riley, Keith F. Widaman, Leonard Abbeduto, Andrea Schneider, Jeanine Coleman, Dena Oaklander, Kelly C. Rhodes and Richard C. Gershon

Atypical audiovisual word processing in school-age children with a history of specific language impairment: an event-related potential study

Visual speech cues influence different aspects of language acquisition. However, whether developmental language disorders may be associated with atypical processing of visual speech is unknown. In this study, ...

Authors: Natalya Kaganovich, Jennifer Schumaker and Courtney Rowland

Automatic cortical representation of auditory pitch changes in Rett syndrome

Over the typical course of Rett syndrome, initial language and communication abilities deteriorate dramatically between the ages of 1 and 4 years, and a majority of these children go on to lose all oral commun...

Authors: John J. Foxe, Kelly M. Burke, Gizely N. Andrade, Aleksandra Djukic, Hans-Peter Frey and Sophie Molholm

Comparing oxytocin and cortisol regulation in a double-blind, placebo-controlled, hydrocortisone challenge pilot study in children with autism and typical development

Children with autism spectrum disorder (ASD) show marked impairment in social functioning and poor adaptation to new and changing contexts, which may be influenced by underlying regulatory processes. Oxytocin ...

Authors: Blythe A. Corbett, Karen L. Bales, Deanna Swain, Kevin Sanders, Tamara A. R. Weinstein and Louis J. Muglia

Visual perception and processing in children with 22q11.2 deletion syndrome: associations with social cognition measures of face identity and emotion recognition

People with 22q11.2 deletion syndrome (22q11DS) have difficulty processing social information including facial identity and emotion processing. However, difficulties with visual and attentional processes may p...

Authors: Kathryn L. McCabe, Stuart Marlin, Gavin Cooper, Robin Morris, Ulrich Schall, Declan G. Murphy, Kieran C. Murphy and Linda E. Campbell

Neurophysiological hyperresponsivity to sensory input in autism spectrum disorders

Atypical sensory processing is a common clinical observation in autism spectrum disorder (ASD). Neural hyperexcitability has been suggested as the cause for sensory hypersensitivity, a frequently reported clin...

Authors: Yukari Takarae, Savanna R. Sablich, Stormi P. White and John A. Sweeney

Erratum to: Neural correlates of reward processing in adults with 22q11 deletion syndrome

Authors: Esther D. A. Van Duin, Liesbet Goossens, Dennis Hernaus, Fabiana Da Silva Alves, Nicole Schmitz, Koen Schruers and Therese Van Amelsvoort

A quantitative measure of restricted and repetitive behaviors for early childhood

Restricted and repetitive behaviors are characteristic phenotypic features of many neurodevelopmental, psychiatric, and neurological conditions. During early childhood, such behaviors are considered normative....

Authors: Jason J. Wolff, Brian A. Boyd and Jed T. Elison

Cumulative life events, traumatic experiences, and psychiatric symptomatology in transition-aged youth with autism spectrum disorder

Co-occurring mood and anxiety symptomatology is commonly observed among youth with autism spectrum disorders (ASD) during adolescence and adulthood. Yet, little is known about the factors that might predispose...

Authors: Julie Lounds Taylor and Katherine O. Gotham

Sex bias in autism spectrum disorder in neurofibromatosis type 1

Despite extensive literature, little is known about the mechanisms underlying sex bias in autism spectrum disorder (ASD). This study investigates the sex differences in ASD associated with neurofibromatosis ty...

Authors: Shruti Garg, Hein Heuvelman, Susan Huson, Hannah Tobin and Jonathan Green

Neural correlates of reward processing in adults with 22q11 deletion syndrome

22q11.2 deletion syndrome (22q11DS) is caused by a microdeletion on chromosome 22q11.2 and associated with an increased risk to develop psychosis. The gene coding for catechol-O-methyl-transferase (COMT) is lo...

Authors: Esther D. A. van Duin, Liesbet Goossens, Dennis Hernaus, Fabiana da Silva Alves, Nicole Schmitz, Koen Schruers and Therese van Amelsvoort

Characterization of Rett Syndrome-like phenotypes in Mecp2-knockout rats

Rett Syndrome (RTT) is a neurodevelopmental disease caused by the disruption of the MECP2 gene. Several mouse models of RTT have been developed with Mecp2 disruptions. Although the mouse models are widely used in...

Authors: Yang Wu, Weiwei Zhong, Ningren Cui, Christopher M. Johnson, Hao Xing, Shuang Zhang and Chun Jiang

Further evidence for a parent-of-origin effect at the NOP9 locus on language-related phenotypes

Specific language impairment (SLI) is a common neurodevelopmental disorder, observed in 5–10 % of children. Family and twin studies suggest a strong genetic component, but relatively few candidate genes have b...

Authors: Kerry A. Pettigrew, Emily Frinton, Ron Nudel, May T. M. Chan, Paul Thompson, Marianna E. Hayiou-Thomas, Joel B. Talcott, John Stein, Anthony P. Monaco, Charles Hulme, Margaret J. Snowling, Dianne F. Newbury and Silvia Paracchini

Complexities of X chromosome inactivation status in female human induced pluripotent stem cells—a brief review and scientific update for autism research

Induced pluripotent stem cells (iPSCs) allow researchers to make customized patient-derived cell lines by reprogramming noninvasively retrieved somatic cells. These cell lines have the potential to faithfully ...

Authors: Mary G. Dandulakis, Kesavan Meganathan, Kristen L. Kroll, Azad Bonni and John N. Constantino

Investigating the effects of copy number variants on reading and language performance

Reading and language skills have overlapping genetic bases, most of which are still unknown. Part of the missing heritability may be caused by copy number variants (CNVs).

Authors: Alessandro Gialluisi, Alessia Visconti, Erik G. Willcutt, Shelley D. Smith, Bruce F. Pennington, Mario Falchi, John C. DeFries, Richard K. Olson, Clyde Francks and Simon E. Fisher

Identification of a distinct developmental and behavioral profile in children with Dup15q syndrome

One of the most common genetic variants associated with autism spectrum disorder (ASD) are duplications of chromosome 15q11.2-q13.1 (Dup15q syndrome). To identify distinctive developmental and behavioral featu...

Authors: Charlotte DiStefano, Amanda Gulsrud, Scott Huberty, Connie Kasari, Edwin Cook, Lawrence T. Reiter, Ronald Thibert and Shafali Spurling Jeste

Persistence of self-injurious behaviour in autism spectrum disorder over 3 years: a prospective cohort study of risk markers

There are few studies documenting the persistence of self-injury in individuals with autism spectrum disorder (ASD) and consequently limited data on behavioural and demographic characteristics associated with ...

Authors: Caroline Richards, Jo Moss, Lisa Nelson and Chris Oliver

Methods for acquiring MRI data in children with autism spectrum disorder and intellectual impairment without the use of sedation

Magnetic resonance imaging (MRI) has been widely used in studies evaluating the neuropathology of autism spectrum disorder (ASD). Studies are often limited, however, to higher functioning individuals with ASD....

Authors: Christine Wu Nordahl, Melissa Mello, Audrey M. Shen, Mark D. Shen, Laurie A. Vismara, Deana Li, Kayla Harrington, Costin Tanase, Beth Goodlin-Jones, Sally Rogers, Leonard Abbeduto and David G. Amaral

Effects of sex and DTNBP1 (dysbindin) null gene mutation on the developmental GluN2B-GluN2A switch in the mouse cortex and hippocampus

Neurodevelopmental disorders such as autism spectrum disorders and schizophrenia differentially impact males and females and are highly heritable. The ways in which sex and genetic vulnerability influence the ...

Authors: Duncan Sinclair, Joseph Cesare, Mary McMullen, Greg C Carlson, Chang-Gyu Hahn and Karin E Borgmann-Winter

Differential methylation at the RELN gene promoter in temporal cortex from autistic and typically developing post-puberal subjects

Reelin plays a pivotal role in neurodevelopment and in post-natal synaptic plasticity and has been implicated in the pathogenesis of autism spectrum disorder (ASD). The reelin (RELN) gene expression is significan...

Authors: Carla Lintas, Roberto Sacco and Antonio M. Persico

Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children

Phelan-McDermid syndrome (PMS) or 22q13.3 deletion syndrome is characterized by global developmental delay, cognitive deficits, and behaviour in the autism spectrum. Knowledge about developmental and behaviour...

Authors: Renée J. Zwanenburg, Selma A.J. Ruiter, Edwin R. van den Heuvel, Boudien C.T. Flapper and Conny M.A. Van Ravenswaaij-Arts

Array-based molecular karyotyping in fetuses with isolated brain malformations identifies disease-causing CNVs

The overall birth prevalence for congenital malformations of the central nervous system (CNS) among Europeans may be as high as 1 in 100 live births. The etiological factors remain largely unknown. The aim of ...

Authors: Madita Schumann, Andrea Hofmann, Sophia K. Krutzke, Alina C. Hilger, Florian Marsch, Dietlinde Stienen, Ulrich Gembruch, Michael Ludwig, Waltraut M. Merz and Heiko Reutter

A functional neuroimaging study of fusiform response to restricted interests in children and adolescents with autism spectrum disorder

While autism spectrum disorder (ASD) is characterized by both social communication deficits and restricted and repetitive patterns of behavior and interest, literature examining possible neural bases of the la...

Authors: Jennifer H. Foss-Feig, Rankin W. McGugin, Isabel Gauthier, Lisa E. Mash, Pamela Ventola and Carissa J. Cascio

An investigation of NFXL1, a gene implicated in a study of specific language impairment

A recent study identified NFXL1 as a candidate gene for specific language impairment. The protein encoded by this gene is predicted to be a transcription factor based on domain similarities with NFX1, a repressor...

Authors: Ron Nudel

Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive inborn error of cholesterol metabolism syndrome with neurocognitive manifestations. SLOS is the result of mutations in the gene encoding the 7-dehydr...

Authors: Audrey Thurm, Elaine Tierney, Cristan Farmer, Phebe Albert, Lisa Joseph, Susan Swedo, Simona Bianconi, Irena Bukelis, Courtney Wheeler, Geeta Sarphare, Diane Lanham, Christopher A. Wassif and Forbes D. Porter

Specific pattern of maturation and differentiation in the formation of cortical tubers in tuberous sclerosis complex (TSC): evidence from layer-specific marker expression

Tuberous sclerosis complex (TSC) is a multisystem disorder that results from mutations in the TSC1 or TSC2 genes, leading to constitutive activation of the mammalian target of rapamycin (mTOR) signaling pathwa...

Authors: Angelika Mühlebner, Anand M. Iyer, Jackelien van Scheppingen, Jasper J. Anink, Floor E. Jansen, Tim J. Veersema, Kees P. Braun, Wim G. M. Spliet, Wim van Hecke, Figen Söylemezoğlu, Martha Feucht, Pavel Krsek, Josef Zamecnik, Christian G. Bien, Tilman Polster, Roland Coras…

Developmental trajectories of executive functions in 22q11.2 deletion syndrome

22q11.2 deletion syndrome (22q11.2DS) is a genetic disorder associated with a specific cognitive profile. Higher-order cognitive skills like executive functions (EF) are reported as a relative weakness in this...

Authors: Johanna Maeder, Maude Schneider, Mathilde Bostelmann, Martin Debbané, Bronwyn Glaser, Sarah Menghetti, Marie Schaer and Stephan Eliez

Erratum to: Neural selectivity for communicative auditory signals in Phelan-McDermid syndrome

Authors: A. Ting Wang, Teresa Lim, Jesslyn Jamison, Lauren Bush, Latha V. Soorya, Teresa Tavassoli, Paige M. Siper, Joseph D. Buxbaum and Alexander Kolevzon

Reduced engagement with social stimuli in 6-month-old infants with later autism spectrum disorder: a longitudinal prospective study of infants at high familial risk

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects more than 1 % of the population and close to 20 % of prospectively studied infants with an older sibling with ASD. Although signific...

Authors: E. J. H. Jones, K. Venema, R. Earl, R. Lowy, K. Barnes, A. Estes, G. Dawson and S. J. Webb

Limited impact of Cntn4 mutation on autism-related traits in developing and adult C57BL/6J mice

Mouse models offer an essential tool to unravel the impact of genetic mutations on autism-related phenotypes. The behavioral impact of some important candidate gene models for autism spectrum disorder (ASD) ha...

Authors: Remco T. Molenhuis, Hilgo Bruining, Esther Remmelink, Leonie de Visser, Maarten Loos, J. Peter H. Burbach and Martien J. H. Kas

Neural selectivity for communicative auditory signals in Phelan-McDermid syndrome

Phelan-McDermid syndrome (PMS), a neurodevelopmental disorder caused by deletion or mutation in the SHANK3 gene, is one of the more common single-locus causes of autism spectrum disorder (ASD). PMS is characteriz...

Authors: A. Ting Wang, Teresa Lim, Jesslyn Jamison, Lauren Bush, Latha V. Soorya, Teresa Tavassoli, Paige M. Siper, Joseph D. Buxbaum and Alexander Kolevzon

Journal of Neurodevelopmental Disorders reviewer acknowledgement 2015

We thank all of the reviewers who have contributed to the journal in volume 7 (2015). High quality and timely reviews are critical to the overall quality of the journal. We are committed to providing a unique ...

Authors: Joseph Piven

Genomic sequencing of a dyslexia susceptibility haplotype encompassing ROBO1

The DYX5 locus for developmental dyslexia was mapped to chromosome 3 by linkage study of a large Finnish family, and later, roundabout guidance receptor 1 (ROBO1) was implicated as a candidate gene at DYX5 with s...

Authors: Satu Massinen, Jingwen Wang, Krista Laivuori, Andrea Bieder, Isabel Tapia Paez, Hong Jiao and Juha Kere

Atypical functional connectivity in resting-state networks of individuals with 22q11.2 deletion syndrome: associations with neurocognitive and psychiatric functioning

22q11.2 deletion syndrome (22q11DS) is a neurogenetic condition associated with deficits in neuropsychological functioning and psychiatric disorders. This deletion confers a high risk for the development of ps...

Authors: Leah M. Mattiaccio, Ioana L. Coman, Matthew J. Schreiner, Kevin M. Antshel, Wanda P. Fremont, Carrie E. Bearden and Wendy R. Kates

Route knowledge and configural knowledge in typical and atypical development: a comparison of sparse and rich environments

Individuals with Down syndrome (DS) and individuals with Williams syndrome (WS) have poor navigation skills, which impact their potential to become independent. Two aspects of navigation were investigated in t...

Authors: Emily K. Farran, Harry R. M. Purser, Yannick Courbois, Marine Ballé, Pascal Sockeel, Daniel Mellier and Mark Blades

Mavoglurant in adolescents with fragile X syndrome: analysis of Clinical Global Impression-Improvement source data from a double-blind therapeutic study followed by an open-label, long-term extension study

A phase II randomized, placebo-controlled, double-blind study and subsequent open-label extension study evaluated the efficacy, safety, and tolerability of mavoglurant (AFQ056), a selective metabotropic glutam...

Authors: Donald B. Bailey Jr., Elizabeth Berry-Kravis, Anne Wheeler, Melissa Raspa, Florence Merrien, Javier Ricart, Barbara Koumaras, Gerd Rosenkranz, Mark Tomlinson, Florian von Raison and George Apostol

Associations between physical growth and general cognitive functioning in international adoptees from Eastern Europe at 30 months post-arrival

Internationally adopted children have often experienced early adversity and growth suppression as a consequence of institutional care. Furthermore, these children are at risk for impaired cognitive development...

Authors: Maria G. Kroupina, Judith K. Eckerle, Anita J. Fuglestad, Liza Toemen, Stephanie Moberg, John H. Himes, Bradley S. Miller, Anna Petryk and Dana E. Johnson

Complete or partial reduction of the Met receptor tyrosine kinase in distinct circuits differentially impacts mouse behavior

Our laboratory discovered that the gene encoding the receptor tyrosine kinase, MET, contributes to autism risk. Expression of MET is reduced in human postmortem temporal lobe in autism and Rett Syndrome. Subseque...

Authors: Barbara L. Thompson and Pat Levitt

Sensory modulation disorders in childhood epilepsy

Altered sensory sensitivity is generally linked to seizure-susceptibility in childhood epilepsy but may also be associated to the highly prevalent problems in behavioral adaptation. This association is further...

Authors: Jolien S. van Campen, Floor E. Jansen, Nienke J. Kleinrensink, Marian Joëls, Kees PJ Braun and Hilgo Bruining