Articles

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

Psychopathology and cognitive performance in individuals with membrane-associated guanylate kinase mutations: a functional network phenotyping study

Rare pathogenic variants in membrane-associated guanylate kinase (MAGUK) genes cause intellectual disability (ID) and have recently been associated with neuropsychiatric risk in the non-ID population. However,...

Authors: Kate Baker, Gaia Scerif, Duncan E Astle, Paul C Fletcher and F Lucy Raymond

Journal of Neurodevelopmental Disorders reviewer acknowledgement 2014

We thank all of our reviewers who have contributed to the journal in volume 6 (2014). High quality and timely reviews are critical to the overall quality of the journal. We are committed to providing a unique ...

Authors: Joseph Piven

Learning by observation and learning by doing in Prader-Willi syndrome

New competencies may be learned through active experience (learning by doing) or observation of others’ experience (learning by observation). Observing another person performing a complex action accelerates th...

Authors: Francesca Foti, Deny Menghini, Enzo Orlandi, Cristina Rufini, Antonino Crinò, Sabrina Spera, Stefano Vicari, Laura Petrosini and Laura Mandolesi

Neurodevelopment for syntactic processing distinguishes childhood stuttering recovery versus persistence

Characterized by the presence of involuntary speech disfluencies, developmental stuttering is a neurodevelopmental disorder of atypical speech-motor coordination. Although the etiology of stuttering is multifa...

Authors: Evan Usler and Christine Weber-Fox

Patterns of autism spectrum symptomatology in individuals with Down syndrome without comorbid autism spectrum disorder

Prevalence estimates of autism spectrum disorder (ASD) in Down syndrome (DS) are highly varied. This variation is partly due to the difficulty of screening for and diagnosing comorbid ASD in individuals with a...

Authors: Marie Moore Channell, B Allyson Phillips, Susan J Loveall, Frances A Conners, Paige M Bussanich and Laura Grofer Klinger

A multidisciplinary approach unravels early and persistent effects of X-ray exposure at the onset of prenatal neurogenesis

In humans, in utero exposure to ionising radiation results in an increased prevalence of neurological aberrations, such as small head size, mental retardation and decreased IQ levels. Yet, the association between...

Authors: Tine Verreet, Roel Quintens, Debby Van Dam, Mieke Verslegers, Mirella Tanori, Arianna Casciati, Mieke Neefs, Liselotte Leysen, Arlette Michaux, Ann Janssen, Emiliano D’Agostino, Greetje Vande Velde, Sarah Baatout, Lieve Moons, Simonetta Pazzaglia, Anna Saran…

There is variability in the attainment of developmental milestones in the CDKL5 disorder

Individuals with the CDKL5 disorder have been described as having severely impaired development. A few individuals have been reported having attained more milestones including walking and running. Our aim was ...

Authors: Stephanie Fehr, Helen Leonard, Gladys Ho, Simon Williams, Nick de Klerk, David Forbes, John Christodoulou and Jenny Downs

An fMRI study of facial emotion processing in children and adolescents with 22q11.2 deletion syndrome

22q11.2 deletion syndrome (22q11DS, velo-cardio-facial syndrome [VCFS]) is a genetic disorder associated with interstitial deletions of chromosome 22q11.2. In addition to high rates of neuropsychiatric disorde...

Authors: Rayna Azuma, Quinton Deeley, Linda E Campbell, Eileen M Daly, Vincent Giampietro, Michael J Brammer, Kieran C Murphy and Declan GM Murphy

An investigation of the middle and late behavioural phenotypes of Mucopolysaccharidosis Type-III

Mucopolysaccharidosis type-III (MPS III) is an autosomal recessive lysosomal storage disorder. It causes progressive physical and cognitive decline and has been linked to increased incidences of behavioural pr...

Authors: Elaine M Cross, Sheena Grant, Simon Jones, Brian W Bigger, James E Wraith, Louise V Mahon, Michelle Lomax and Dougal J Hare

A cross-sectional analysis of orienting of visuospatial attention in child and adult carriers of the fragile X premutation

Fragile X premutation carriers (fXPCs) have an expansion of 55–200 CGG repeats in the FMR1 gene. Male fXPCs are at risk for developing a neurodegenerative motor disorder (fragile X-associated tremor/ataxia syndro...

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

The relationship between sleep and behavior in autism spectrum disorder (ASD): a review

Although there is evidence that significant sleep problems are common in children with autism spectrum disorder (ASD) and that poor sleep exacerbates problematic daytime behavior, such relationships have recei...

Authors: Simonne Cohen, Russell Conduit, Steven W Lockley, Shantha MW Rajaratnam and Kim M Cornish

Event-related potentials to repeated speech in 9-month-old infants at risk for autism spectrum disorder

Atypical neural responses to repeated auditory and linguistic stimuli have been reported both in individuals with autism spectrum disorder (ASD) and their first-degree relatives. Recent work suggests that the ...

Authors: Anne Seery, Helen Tager-Flusberg and Charles A Nelson

Hippocampal glutamate-glutamine (Glx) in adults with Down syndrome: a preliminary study using in vivo proton magnetic resonance spectroscopy (¹H MRS)

Down syndrome (DS), or trisomy 21, is one of the most common autosomal mutations. People with DS have intellectual disability (ID) and are at significantly increased risk of developing Alzheimer’s disease (AD)...

Authors: Giles MY Tan, Felix Beacher, Eileen Daly, Jamie Horder, Verinder Prasher, Maria-Luisa Hanney, Robin Morris, Simon Lovestone, Kieran C Murphy, Andrew Simmons and Declan GM Murphy

Social (pragmatic) communication disorder: a research review of this new DSM-5 diagnostic category

Social (pragmatic) communication disorder (SCD) is a new diagnostic category in the Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-5). The purpose of this review is to describe and s...

Authors: Lauren B Swineford, Audrey Thurm, Gillian Baird, Amy M Wetherby and Susan Swedo

EEG hyper-connectivity in high-risk infants is associated with later autism

It has been previously reported that structural and functional brain connectivity in individuals with autism spectrum disorders (ASD) is atypical and may vary with age. However, to date, no measures of functio...

Authors: Elena V Orekhova, Mayada Elsabbagh, Emily JH Jones, Geraldine Dawson, Tony Charman and Mark H Johnson

Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring

Autism spectrum disorder (ASD) and intellectual disability (ID) can be caused by mutations in a large number of genes. One example is SHANK3 on the terminal end of chromosome 22q. Loss of one functional copy of S...

Authors: Alexander Kolevzon, Benjamin Angarita, Lauren Bush, A Ting Wang, Yitzchak Frank, Amy Yang, Robert Rapaport, Jeffrey Saland, Shubhika Srivastava, Cristina Farrell, Lisa J Edelmann and Joseph D Buxbaum

Pre-pulse inhibition and antisaccade performance indicate impaired attention modulation of cognitive inhibition in 22q11.2 deletion syndrome (22q11DS)

22q11.2 deletion syndrome (22q11DS) is associated with a number of physical anomalies and neuropsychological deficits including impairments in executive and sensorimotor function. It is estimated that 25% of c...

Authors: Kathryn Louise McCabe, Rebbekah Josephine Atkinson, Gavin Cooper, Jessica Lauren Melville, Jill Harris, Ulrich Schall, Carmel Maree Loughland, Renate Thienel and Linda Elisabet Campbell

Enhanced parietal cortex activation during location detection in children with autism

Visuospatial processing has been found to be mediated primarily by two cortical routes, one of which is unique to recognizing objects (occipital-temporal, ventral or “what” pathway) and the other to detecting ...

Authors: Thomas P DeRamus, Briley S Black, Mark R Pennick and Rajesh K Kana

PreImplantation factor (PIF*) promotes embryotrophic and neuroprotective decidual genes: effect negated by epidermal growth factor

Intimate embryo-maternal interaction is paramount for pregnancy success post-implantation. The embryo follows a specific developmental timeline starting with neural system, dependent on endogenous and decidual...

Authors: Christina M Duzyj, Michael J Paidas, Lellean Jebailey, Jing Shun Huang and Eytan R Barnea

Examining the relationship between face processing and social interaction behavior in children with and without autism spectrum disorder

Children with autism spectrum disorder (ASD) show impairment in reciprocal social communication, which includes deficits in social cognition and behavior. Since social cognition and social behavior are conside...

Authors: Blythe A Corbett, Cassandra Newsom, Alexandra P Key, Lydia R Qualls and E Kale Edmiston

Copy number variation in Han Chinese individuals with autism spectrum disorder

Autism spectrum disorders (ASDs) are a group of neurodevelopmental conditions with a demonstrated genetic etiology. Rare (<1% frequency) copy number variations (CNVs) account for a proportion of the genetic ev...

Authors: Matthew J Gazzellone, Xue Zhou, Anath C Lionel, Mohammed Uddin, Bhooma Thiruvahindrapuram, Shuang Liang, Caihong Sun, Jia Wang, Mingyang Zou, Kristiina Tammimies, Susan Walker, Thanuja Selvanayagam, John Wei, Zhuozhi Wang, Lijie Wu and Stephen W Scherer

Eye-voice span during rapid automatized naming: evidence of reduced automaticity in individuals with autism spectrum disorder and their siblings

Individuals with autism spectrum disorder (ASD) and their parents demonstrate impaired performance in rapid automatized naming (RAN), a task that recruits a variety of linguistic and executive processes. Thoug...

Authors: Abigail L Hogan-Brown, Renske S Hoedemaker, Peter C Gordon and Molly Losh

Facial emotion recognition in agenesis of the corpus callosum

Impaired social functioning is a common symptom of individuals with developmental disruptions in callosal connectivity. Among these developmental conditions, agenesis of the corpus callosum provides the most e...

Authors: Matthew W Bridgman, Warren S Brown, Michael L Spezio, Matthew K Leonard, Ralph Adolphs and Lynn K Paul

Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI)

Fragile X-associated primary ovarian insufficiency (FXPOI) is among the family of disorders caused by the expansion of a CGG repeat sequence in the 5' untranslated region of the X-linked gene FMR1. About 20% of w...

Authors: Stephanie L Sherman, Eliza C Curnow, Charles A Easley, Peng Jin, Renate K Hukema, Maria Isabel Tejada, Rob Willemsen and Karen Usdin

Emerging topics in FXTAS

This paper summarizes key emerging issues in fragile X-associated tremor/ataxia syndrome (FXTAS) as presented at the First International Conference on the FMR1 Premutation: Basic Mechanisms & Clinical Involvement...

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

Associated features in females with an FMR1 premutation

Changes in the fragile X mental retardation 1 gene (FMR1) have been associated with specific phenotypes, most specifically those of fragile X syndrome (FXS), fragile X tremor/ataxia syndrome (FXTAS), and fragile ...

Authors: Anne C Wheeler, Donald B Bailey Jr, Elizabeth Berry-Kravis, Jan Greenberg, Molly Losh, Marsha Mailick, Montserrat Milà, John M Olichney, Laia Rodriguez-Revenga, Stephanie Sherman, Leann Smith, Scott Summers, Jin-Chen Yang and Randi Hagerman

Visual motion processing deficits in infants with the fragile X premutation

Fragile X syndrome (FXS) results from a trinucleotide repeat expansion (full mutation >200 cytosine-guanine-guanine (CGG) repeats) in the FMR1 gene, leading to a reduction or absence of the gene’s protein product...

Authors: Pamela K Gallego, Jessica L Burris and Susan M Rivera

The cognitive neuropsychological phenotype of carriers of the FMR1 premutation

The fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder affecting a subset of carriers of the FMR1 (fragile X mental retardation 1) premutation. Penetrance and expressio...

Authors: Jim Grigsby, Kim Cornish, Darren Hocking, Claudine Kraan, John M Olichney, Susan M Rivera, Andrea Schneider, Stephanie Sherman, Jun Yi Wang and Jin-Chen Yang

Genomic studies in fragile X premutation carriers

The FMR1 premutation is defined as having 55 to 200 CGG repeats in the 5′ untranslated region of the fragile X mental retardation 1 gene (FMR1). The clinical involvement has been well characterized for fragile X-...

Authors: Reymundo Lozano, Randi J Hagerman, Michael Duyzend, Dejan B Budimirovic, Evan E Eichler and Flora Tassone

Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome

Carriers of the fragile X premutation (FPM) have CGG trinucleotide repeat expansions of between 55 and 200 in the 5′-UTR of FMR1, compared to a CGG repeat length of between 5 and 54 for the general population. Ca...

Authors: Robert F Berman, Ronald AM Buijsen, Karen Usdin, Elizabeth Pintado, Frank Kooy, Dalyir Pretto, Isaac N Pessah, David L Nelson, Zachary Zalewski, Nicholas Charlet-Bergeurand, Rob Willemsen and Renate K Hukema

AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission

The presence of AGG interruptions in the CGG repeat locus of the fragile X mental retardation 1 (FMR1) gene decreases the instability of the allele during transmission from parent to child, and decreases the risk...

Authors: Carolyn M Yrigollen, Loreto Martorell, Blythe Durbin-Johnson, Montserrat Naudo, Jordi Genoves, Alessandra Murgia, Roberta Polli, Lili Zhou, Deborah Barbouth, Abigail Rupchock, Brenda Finucane, Gary J Latham, Andrew Hadd, Elizabeth Berry-Kravis and Flora Tassone

The multiple molecular facets of fragile X-associated tremor/ataxia syndrome

Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset inherited neurodegenerative disorder characterized by intentional tremor, gait ataxia, autonomic dysfunction, and cognitive decline. FXTAS ...

Authors: Chantal Sellier, Karen Usdin, Chiara Pastori, Veronica J Peschansky, Flora Tassone and Nicolas Charlet-Berguerand

Fragile X Premutation

Whereas full mutation CGG-repeat expansions (>200 repeats) of the fragile X gene (FMR1) give rise to the neurodevelopmental disorder, fragile X syndrome (FXS); smaller, ‘premutation’ expansions (55 to 200 repeats...

Authors: Flora Tassone, Paul J Hagerman and Randi J Hagerman

Late, not early mismatch responses to changes in frequency are reduced or deviant in children with dyslexia: an event-related potential study

Developmental disorders of oral and written language have been linked to deficits in the processing of auditory information. However, findings have been inconsistent, both for behavioural and electrophysiologi...

Authors: Lorna F Halliday, Johanna G Barry, Mervyn J Hardiman and Dorothy VM Bishop