Articles

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

Cerebral volumetric abnormalities in Neurofibromatosis type 1: associations with parent ratings of social and attention problems, executive dysfunction, and autistic mannerisms

Neurofibromatosis type 1 (NF1) is a single-gene neurodevelopmental disorder, in which social and cognitive problems are highly prevalent. Several commonly observed central nervous system (CNS) abnormalities in...

Authors: Stephan CJ Huijbregts, Marisa Loitfelder, Serge A Rombouts, Hanna Swaab, Berit M Verbist, Enrico B Arkink, Mark A Van Buchem and Ilya M Veer

Autism diagnosis differentiates neurophysiological responses to faces in adults with tuberous sclerosis complex

Autism spectrum disorder (ASD) is a common and highly heritable neurodevelopmental disorder that is likely to be the outcome of complex aetiological mechanisms. One strategy to provide insight is to study ASD ...

Authors: Charlotte Tye, Teresa Farroni, Ágnes Volein, Evelyne Mercure, Leslie Tucker, Mark H. Johnson and Patrick F. Bolton

Anxiety-like behavior in Rett syndrome: characteristics and assessment by anxiety scales

Rett syndrome (RTT) is a severe neurodevelopmental disorder characterized by regression of language and motor skills, cognitive impairment, and frequent seizures. Although the diagnostic criteria focus on comm...

Authors: Katherine V. Barnes, Francesca R. Coughlin, Heather M. O’Leary, Natalie Bruck, Grace A. Bazin, Emily B. Beinecke, Alexandra C. Walco, Nicole G. Cantwell and Walter E. Kaufmann

Actigraphic investigation of circadian rhythm functioning and activity levels in children with mucopolysaccharidosis type III (Sanfilippo syndrome)

Sleep disturbance is part of the behavioural phenotype of the rare genetic condition mucopolysaccharidosis (MPS) type III. A growing body of evidence suggests that underlying disturbance in circadian rhythm fu...

Authors: Rachel A. Mumford, Louise V. Mahon, Simon Jones, Brian Bigger, Maria Canal and Dougal Julian Hare

High rates of parkinsonism in adults with autism

While it is now recognized that autism spectrum disorder (ASD) is typically a life-long condition, there exist only a handful of systematic studies on middle-aged and older adults with this condition.

Authors: Sergio Starkstein, Scott Gellar, Morgan Parlier, Leslie Payne and Joseph Piven

Speech motor planning and execution deficits in early childhood stuttering

Five to eight percent of preschool children develop stuttering, a speech disorder with clearly observable, hallmark symptoms: sound repetitions, prolongations, and blocks. While the speech motor processes unde...

Authors: Bridget Walsh, Kathleen Marie Mettel and Anne Smith

Neural systems mediating processing of sound units of language distinguish recovery versus persistence in stuttering

Developmental stuttering is a multi-factorial disorder. Measures of neural activity while children processed the phonological (language sound unit) properties of words have revealed neurodevelopmental differen...

Authors: Ranjini Mohan and Christine Weber

Altered modulation of gamma oscillation frequency by speed of visual motion in children with autism spectrum disorders

Recent studies link autism spectrum disorders (ASD) with an altered balance between excitation and inhibition (E/I balance) in cortical networks. The brain oscillations in high gamma-band (50–120 Hz) are sensi...

Authors: Tatiana A. Stroganova, Anna V. Butorina, Olga V. Sysoeva, Andrey O. Prokofyev, Anastasia Yu. Nikolaeva, Marina M. Tsetlin and Elena V. Orekhova

CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders

Neurodevelopmental disorders are impairments of brain function that affect emotion, learning, and memory. Copy number variations of contactin genes (CNTNs), including CNTN3, CNTN4, CNTN5, and CNTN6, have been sug...

Authors: Jie Hu, Jun Liao, Malini Sathanoori, Sally Kochmar, Jessica Sebastian, Svetlana A. Yatsenko and Urvashi Surti

Structural and functional connectivity in the default mode network in 22q11.2 deletion syndrome

The neural endophenotype associated with 22q11.2 deletion syndrome (22q11DS) includes deviant cortical development and alterations in brain connectivity. Resting-state functional magnetic resonance imaging (fM...

Authors: Maria Carmela Padula, Marie Schaer, Elisa Scariati, Maude Schneider, Dimitri Van De Ville, Martin Debbané and Stephan Eliez

Face scanning and spontaneous emotion preference in Cornelia de Lange syndrome and Rubinstein-Taybi syndrome

Existing literature suggests differences in face scanning in individuals with different socio-behavioural characteristics. Cornelia de Lange syndrome (CdLS) and Rubinstein-Taybi syndrome (RTS) are two genetica...

Authors: Hayley Crawford, Joanna Moss, Joseph P. McCleery, Giles M. Anderson and Chris Oliver

Modulation of mu attenuation to social stimuli in children and adults with 16p11.2 deletions and duplications

Copy number variations (CNV) within the recurrent ~600 kb chromosomal locus of 16p11.2 are associated with a wide range of neurodevelopmental disorders, including autism spectrum disorder (ASD). However, little i...

Authors: Caitlin M. Hudac, Anna Kresse, Benjamin Aaronson, Trent D. DesChamps, Sara Jane Webb and Raphael A. Bernier

Behavioral, cognitive, and adaptive development in infants with autism spectrum disorder in the first 2 years of life

To delineate the early progression of autism spectrum disorder (ASD) symptoms, this study investigated developmental characteristics of infants at high familial risk for ASD (HR), and infants at low risk (LR).

Authors: Annette Estes, Lonnie Zwaigenbaum, Hongbin Gu, Tanya St. John, Sarah Paterson, Jed T. Elison, Heather Hazlett, Kelly Botteron, Stephen R. Dager, Robert T. Schultz, Penelope Kostopoulos, Alan Evans, Geraldine Dawson, Jordana Eliason, Shanna Alvarez and Joseph Piven

A 13-year follow-up of Finnish patients with Salla disease

Salla disease (SD) is a rare lysosomal storage disorder leading to severe intellectual disability. SD belongs to the Finnish disease heritage, and it is caused by mutations in the SLC17A5 gene. The aim of the stu...

Authors: Liisa E. Paavola, Anne M. Remes, Marika J. Harila, Tarja T. Varho, Tapio T. Korhonen and Kari Majamaa

Comparative mapping of the 22q11.2 deletion region and the potential of simple model organisms

22q11.2 deletion syndrome (22q11.2DS) is the most common micro-deletion syndrome. The associated 22q11.2 deletion conveys the strongest known molecular risk for schizophrenia. Neurodevelopmental phenotypes, in...

Authors: Alina Guna, Nancy J. Butcher and Anne S. Bassett

Memory in language-impaired children with and without autism

A subgroup of young children with autism spectrum disorders (ASD) have significant language impairments (phonology, grammar, vocabulary), although such impairments are not considered to be core symptoms of and...

Authors: Alison Presmanes Hill, Jan van Santen, Kyle Gorman, Beth Hoover Langhorst and Eric Fombonne

The perinatal androgen to estrogen ratio and autistic-like traits in the general population: a longitudinal pregnancy cohort study

Prenatal androgen exposure has been hypothesized to be linked to autism spectrum disorder (ASD). While previous studies have found a link between testosterone levels in amniotic fluid and autistic-like traits,...

Authors: Esha S. L. Jamnadass, Jeffrey A. Keelan, Lauren P. Hollier, Martha Hickey, Murray T. Maybery and Andrew J. O. Whitehouse

Violence: heightened brain attentional network response is selectively muted in Down syndrome

The ability to recognize and respond appropriately to threat is critical to survival, and the neural substrates subserving attention to threat may be probed using depictions of media violence. Whether neural r...

Authors: Jeffrey S. Anderson, Scott M. Treiman, Michael A. Ferguson, Jared A. Nielsen, Jamie O. Edgin, Li Dai, Guido Gerig and Julie R. Korenberg

Erratum: 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

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

Sexually dimorphic facial features vary according to level of autistic-like traits in the general population

In a recent study, Bejerot et al. observed that several physical features (including faces) of individuals with an autism spectrum disorder (ASD) were more androgynous than those of their typically developed coun...

Authors: Syed Zulqarnain Gilani, Diana Weiting Tan, Suzanna N Russell-Smith, Murray T Maybery, Ajmal Mian, Peter R Eastwood, Faisal Shafait, Mithran Goonewardene and Andrew JO Whitehouse

Erratum: Emerging topics in FXTAS

Authors: Deborah A Hall, Rachael C Birch, Mathieu Anheim, Aia E Jønch, Elizabeth Pintado, Joan A O’Keefe, Julian N Trollor, Glenn T Stebbins, Randi J Hagerman, Stanley Fahn, Elizabeth Berry-Kravis and Maureen A Leehey

Neural mechanisms of negative reinforcement in children and adolescents with autism spectrum disorders

Previous research has found accumulating evidence for atypical reward processing in autism spectrum disorders (ASD), particularly in the context of social rewards. Yet, this line of research has focused largel...

Authors: Cara R Damiano, Dillon C Cockrell, Kaitlyn Dunlap, Eleanor K Hanna, Stephanie Miller, Joshua Bizzell, Megan Kovac, Lauren Turner-Brown, John Sideris, Jessica Kinard and Gabriel S Dichter

A national survey of Rett syndrome: behavioural characteristics

The aim was to gain a UK national sample of people with Rett syndrome (RTT) across the age range and compare their characteristics using a variety of relevant behavioural measures with a well-chosen contrast g...

Authors: Rina Cianfaglione, Angus Clarke, Michael Kerr, Richard P Hastings, Chris Oliver, Jo Moss, Mary Heald and David Felce

Visual search for feature conjunctions: an fMRI study comparing alcohol-related neurodevelopmental disorder (ARND) to ADHD

Alcohol-related neurodevelopmental disorder (ARND) falls under the umbrella of fetal alcohol spectrum disorder (FASD). Diagnosis of ARND is difficult because individuals do not demonstrate the characteristic f...

Authors: Carrie R O’Conaill, Krisztina L Malisza, Joan L Buss, R Bruce Bolster, Christine Clancy, Patricia Dreessen de Gervai, Albert E Chudley and Sally Longstaffe

Psychiatric disorders in adolescents and young adults with Down syndrome and other intellectual disabilities

Relative to other aspects of Down syndrome, remarkably little is known about the psychiatric problems experienced by youth and young adults with this syndrome and if these problems differ from others with inte...

Authors: Elisabeth M Dykens, Bhavik Shah, Bruce Davis, Courtney Baker, Taylor Fife and Jeri Fitzpatrick