Articles

Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurodevelopmental disorders that are caused by abnormal expression of imprinted genes in the 15q11-13 region. Dysregulation of genes located in this ...

Authors: Emma K. Baker, David E. Godler, Minh Bui, Chriselle Hickerton, Carolyn Rogers, Mike Field, David J. Amor and Lesley Bretherton

Visual subcircuit-specific dysfunction and input-specific mispatterning in the superior colliculus of fragile X mice

Sensory processing deficits are frequently co-morbid with neurodevelopmental disorders. For example, patients with fragile X syndrome (FXS), caused by a silencing of the FMR1 gene, exhibit impairments in visual f...

Authors: Rachel B. Kay, Nicole A. Gabreski and Jason W. Triplett

Genetic and maternal predictors of cognitive and behavioral trajectories in females with fragile X syndrome

Fragile X syndrome (FXS) is caused by a mutation in the FMR1 gene on the X chromosome, leading to decreased levels of FMR1 protein (FMRP), which causes the array of neuropsychological impairments that define FXS....

Authors: Laura del Hoyo Soriano, Angela John Thurman, Danielle Jenine Harvey, W. Ted Brown and Leonard Abbeduto

Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1

Gene mutations within the RAS-MAPK signaling cascade result in Noonan syndrome (NS), neurofibromatosis type 1 (NF1), and related disorders. Recent research has documented an increased risk for social difficult...

Authors: Elizabeth I. Pierpont, Rebekah L. Hudock, Allison M. Foy, Margaret Semrud-Clikeman, Mary Ella Pierpont, Susan A. Berry, Ryan Shanley, Nathan Rubin, Katherine Sommer and Christopher L. Moertel

A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees

Although several genetic variants for autism spectrum disorder (ASD) have now been identified, these largely occur sporadically or are de novo. Much less progress has been made in identifying inherited variant...

Authors: Marc Woodbury-Smith, Andrew D. Paterson, Irene O’Connor, Mehdi Zarrei, Ryan K. C. Yuen, Jennifer L Howe, Ann Thompson, Morgan Parlier, Bridget Fernandez, Joseph Piven, Stephen W. Scherer, Veronica Vieland and Peter Szatmari

Load matters: neural correlates of verbal working memory in children with autism spectrum disorder

Autism spectrum disorder (ASD) is a pervasive neurodevelopmental disorder characterised by diminished social reciprocity and communication skills and the presence of stereotyped and restricted behaviours. Exec...

Authors: Vanessa M. Vogan, Kaitlyn E. Francis, Benjamin R. Morgan, Mary Lou Smith and Margot J. Taylor

Strong correlation of downregulated genes related to synaptic transmission and mitochondria in post-mortem autism cerebral cortex

Genetic studies in autism have pinpointed a heterogeneous group of loci and genes. Further, environment may be an additional factor conferring susceptibility to autism. Transcriptome studies investigate quanti...

Authors: Matthew Schwede, Shailender Nagpal, Michael J. Gandal, Neelroop N. Parikshak, Karoly Mirnics, Daniel H. Geschwind and Eric M. Morrow

Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation

Dystonia-deafness syndrome is a well-known clinical entity, with sensorineural deafness typically manifesting earlier than dystonia. ACTB p.Arg183Trp heterozygosity has been reported in six patients to cause comb...

Authors: Inger Marie Skogseid, Oddveig Røsby, Ane Konglund, James P. Connelly, Bård Nedregaard, Greg Eigner Jablonski, Nadja Kvernmo, Asbjørg Stray-Pedersen and Joel C. Glover

Recent progress and considerations for AAV gene therapies targeting the central nervous system

Neurodevelopmental disorders, as a class of diseases, have been particularly difficult to treat even when the underlying cause(s), such as genetic alterations, are understood. What treatments do exist are gene...

Authors: Erik Allen Lykken, Charles Shyng, Reginald James Edwards, Alejandra Rozenberg and Steven James Gray

A direct regulatory link between microRNA-137 and SHANK2: implications for neuropsychiatric disorders

Mutations in the SHANK genes, which encode postsynaptic scaffolding proteins, have been linked to a spectrum of neurodevelopmental disorders. The SHANK genes and the schizophrenia-associated microRNA-137 show con...

Authors: Ana de Sena Cortabitarte, Simone Berkel, Flavia-Bianca Cristian, Christine Fischer and Gudrun A. Rappold

Development of fine motor skills is associated with expressive language outcomes in infants at high and low risk for autism spectrum disorder

A growing body of research suggests that fine motor abilities are associated with skills in a variety of domains in both typical and atypical development. In this study, we investigated developmental trajector...

Authors: Boin Choi, Kathryn A. Leech, Helen Tager-Flusberg and Charles A. Nelson

Neural correlates of socio-emotional perception in 22q11.2 deletion syndrome

Social impairments are described as a common feature of the 22q11.2 deletion syndrome (22q11DS). However, the neural correlates underlying these impairments are largely unknown in this population. In this stud...

Authors: Lydia Dubourg, Pascal Vrticka, Martin Debbané, Léa Chambaz, Stephan Eliez and Maude Schneider

The effects of intranasal oxytocin on reward circuitry responses in children with autism spectrum disorder

Intranasal oxytocin (OT) has been shown to improve social communication functioning of individuals with autism spectrum disorder (ASD) and, thus, has received considerable interest as a potential ASD therapeut...

Authors: R. K. Greene, M. Spanos, C. Alderman, E. Walsh, J. Bizzell, M. G. Mosner, J. L. Kinard, G. D. Stuber, T. Chandrasekhar, L. C. Politte, L. Sikich and G. S. Dichter

Oscillatory motor patterning is impaired in neurofibromatosis type 1: a behavioural, EEG and fMRI study

Neurofibromatosis type1 (NF1) is associated with a broad range of behavioural deficits, and an imbalance between excitatory and inhibitory neurotransmission has been postulated in this disorder. Inhibition is ...

Authors: Gilberto Silva, Isabel Catarina Duarte, Inês Bernardino, Tânia Marques, Inês R. Violante and Miguel Castelo-Branco

Few individuals with Lennox-Gastaut syndrome have autism spectrum disorder: a comparison with Dravet syndrome

Autism spectrum disorder (ASD) in epilepsy has been a topic of increasing interest, which in general occurs in 15–35% of the patients with epilepsy, more frequently in those with intellectual disability (ID). ...

Authors: Na He, Bing-Mei Li, Zhao-Xia Li, Jie Wang, Xiao-Rong Liu, Heng Meng, Bin Tang, Wen-Jun Bian, Yi-Wu Shi and Wei-Ping Liao

A cross-syndrome cohort comparison of sleep disturbance in children with Smith-Magenis syndrome, Angelman syndrome, autism spectrum disorder and tuberous sclerosis complex

Sleep disturbance is common in children with neurodevelopmental disorders, with high rates identified in children with Smith-Magenis syndrome (SMS), Angelman syndrome (AS), autism spectrum disorder (ASD) and t...

Authors: J. Trickett, M. Heald, C. Oliver and C. Richards

The feasibility of using actigraphy to characterize sleep in Rett syndrome

Rett syndrome (RTT) is a neurodevelopmental disorder primarily caused by mutations in the MECP2 gene. Sleep problems are reported by the majority of caregivers of individuals with RTT.

Authors: Alyssa M. Merbler, Breanne J. Byiers, John J. Garcia, Timothy J. Feyma and Frank J. Symons

Heart rate-defined sustained attention in infants at risk for autism

Although aberrant visual attention has been identified in infants at high familial risk for autism, the developmental emergence of atypical attention remains unclear. Integrating biological measures of attenti...

Authors: Bridgette L. Tonnsen, John E. Richards and Jane E. Roberts

The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators

Pathologic mutations in SYNGAP1 cause a genetically defined form of intellectual disability (ID) with comorbid epilepsy and autistic features. While only recently discovered, pathogenicity of this gene is a relat...

Authors: Monica Weldon, Murat Kilinc, J. Lloyd Holder Jr and Gavin Rumbaugh

Memory profiles in Down syndrome across development: a review of memory abilities through the lifespan

Down syndrome (DS) is associated with a variety of cognitive impairments, notably memory impairments. Due to the high prevalence rates of early-onset dementia associated with DS, it is imperative to understand...

Authors: Mary Godfrey and Nancy Raitano Lee

Developmental change in look durations predicts later effortful control in toddlers at familial risk for ASD

Difficulties with executive functioning (EF) are common in individuals with a range of developmental disorders, including autism spectrum disorder (ASD). Interventions that target underlying mechanisms of EF e...

Authors: Alexandra Hendry, Emily J. H. Jones, Rachael Bedford, Teodora Gliga, Tony Charman and Mark H. Johnson

Auditory repetition suppression alterations in relation to cognitive functioning in fragile X syndrome: a combined EEG and machine learning approach

Fragile X syndrome (FXS) is a neurodevelopmental genetic disorder causing cognitive and behavioural deficits. Repetition suppression (RS), a learning phenomenon in which stimulus repetitions result in diminish...

Authors: Inga Sophia Knoth, Tarek Lajnef, Simon Rigoulot, Karine Lacourse, Phetsamone Vannasing, Jacques L. Michaud, Sébastien Jacquemont, Philippe Major, Karim Jerbi and Sarah Lippé

The behavioural phenotype of Potocki-Lupski syndrome: a cross-syndrome comparison

Potocki-Lupski syndrome (PTLS) and Smith-Magenis syndrome (SMS) are related genomic disorders, as duplication 17p11.2 (associated with PTLS) is the reciprocal recombination product of the SMS microdeletion. Wh...

Authors: Stacey Bissell, Lucy Wilde, Caroline Richards, Jo Moss and Chris Oliver

Classifying and characterizing the development of adaptive behavior in a naturalistic longitudinal study of young children with autism

Adaptive behavior, or the ability to function independently in ones’ environment, is a key phenotypic construct in autism spectrum disorder (ASD). Few studies of the development of adaptive behavior during pre...

Authors: Cristan Farmer, Lauren Swineford, Susan E. Swedo and Audrey Thurm

Is dopamine transporter-mediated dopaminergic signaling in the retina a noninvasive biomarker for attention-deficit/ hyperactivity disorder? A study in a novel dopamine transporter variant Val559 transgenic mouse model

Dopamine (DA) is a critical neuromodulator in the retina. Disruption of retinal DA synthesis and signaling significantly attenuates light-adapted, electroretinogram (ERG) responses, as well as contrast sensiti...

Authors: Heng Dai, Chad R. Jackson, Gwynne L. Davis, Randy D. Blakely and Douglas G. McMahon

Prospective study of autism phenomenology and the behavioural phenotype of Phelan–McDermid syndrome: comparison to fragile X syndrome, Down syndrome and idiopathic autism spectrum disorder

The limited behavioural phenotype literature on Phelan–McDermid syndrome (PMS) indicates atypically high levels of activity, impulsivity and autism spectrum disorder (ASD) behaviours. Divergent profiles of ASD...

Authors: Caroline Richards, Laurie Powis, Jo Moss, Christopher Stinton, Lisa Nelson and Christopher Oliver

Saccade adaptation deficits in developmental dyslexia suggest disruption of cerebellar-dependent learning

Estimates of the prevalence of developmental dyslexia in the general population range from 5% to as many as 10%. Symptoms include reading, writing, and language deficits, but the severity and mix of symptoms c...

Authors: Edward G. Freedman, Sophie Molholm, Michael J. Gray, Daniel Belyusar and John J. Foxe

Understanding others: a pilot investigation of cognitive and affective facets of social cognition in patients with 22q11.2 deletion syndrome (22q11DS)

Although significant impairments in the affective and cognitive facets of social cognition have been highlighted in patients with 22q11.2 deletion syndrome (22q11DS) in previous studies, these domains have nev...

Authors: D. Badoud, M. Schneider, S. Menghetti, B. Glaser, M. Debbané and S. Eliez

Differential effects of anxiety and autism on social scene scanning in males with fragile X syndrome

Existing literature draws links between social attention and socio-behavioural profiles in neurodevelopmental disorders. Fragile X syndrome (FXS) is associated with a known socio-behavioural phenotype of socia...

Authors: Hayley Crawford, Joanna Moss, Chris Oliver and Deborah Riby

EEG power at 3 months in infants at high familial risk for autism

Alterations in brain development during infancy may precede the behavioral manifestation of developmental disorders. Infants at increased risk for autism are also at increased risk for other developmental diso...

Authors: April R. Levin, Kandice J. Varcin, Heather M. O’Leary, Helen Tager-Flusberg and Charles A. Nelson

An experimental study of executive function and social impairment in Cornelia de Lange syndrome

Extreme shyness and social anxiety is reported to be characteristic of adolescents and adults with Cornelia de Lange syndrome (CdLS); however, the nature of these characteristics is not well documented. In thi...

Authors: Lisa Nelson, Hayley Crawford, Donna Reid, Joanna Moss and Chris Oliver

Attention and motor deficits index non-specific background liabilities that predict autism recurrence in siblings

Recent research has demonstrated that subclinical autistic traits of parents amplify the effects of deleterious mutations in the causation of autism spectrum disorder (ASD) in their offspring. Here, we examine...

Authors: Sabine E. Mous, Allan Jiang, Arpana Agrawal and John N. Constantino

Altered sensitivity to social gaze in the FMR1 premutation and pragmatic language competence

The FMR1 premutation affects 1:291 women and is associated with a range of cognitive, affective, and physical health complications, including deficits in pragmatic language (i.e., social language). This study inv...

Authors: Jessica Klusek, Joseph Schmidt, Amanda J. Fairchild, Anna Porter and Jane E. Roberts

Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance

The aim of this study was to examine executive functioning in adolescents and adults with Cornelia de Lange syndrome (CdLS) to identify a syndrome and age-related profile of cognitive impairment.

Authors: Donna Reid, Jo Moss, Lisa Nelson, Laura Groves and Chris Oliver

A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome

Gamma-aminobutyric acid (GABA) system deficits are integral to the pathophysiologic development of fragile X syndrome (FXS). Ganaxolone, a GABA_A receptor positive allosteric modulator, is hypothesized to improve ...

Authors: Andrew Ligsay, Anke Van Dijck, Danh V. Nguyen, Reymundo Lozano, Yanjun Chen, Erika S. Bickel, David Hessl, Andrea Schneider, Kathleen Angkustsiri, Flora Tassone, Berten Ceulemans, R. Frank Kooy and Randi J. Hagerman

Social brain circuitry and social cognition in infants born preterm

Preterm birth is associated with an increased risk of adverse neurologic, psychiatric, and cognitive outcomes. The brain circuits involved in processing social information are critical to all of these domains,...

Authors: Angela Fenoglio, Michael K. Georgieff and Jed T. Elison

Erratum to: Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis

Authors: Michael S. Sidorov, Gina M. Deck, Marjan Dolatshahi, Ronald L. Thibert, Lynne M. Bird, Catherine J. Chu and Benjamin D. Philpot

Attention deficit hyperactivity disorder (ADHD) in phenotypically similar neurogenetic conditions: Turner syndrome and the RASopathies

ADHD (attention deficit hyperactivity disorder) is a common neurodevelopmental disorder. There has been extensive clinical and basic research in the field of ADHD over the past 20 years, but the mechanisms und...

Authors: Tamar Green, Paige E. Naylor and William Davies

Vagus nerve stimulation as a potential adjuvant to behavioral therapy for autism and other neurodevelopmental disorders

Many children with autism and other neurodevelopmental disorders undergo expensive, time-consuming behavioral interventions that often yield only modest improvements. The development of adjunctive intervention...

Authors: Crystal T. Engineer, Seth A. Hays and Michael P. Kilgard

The role of nonverbal working memory in morphosyntactic processing by children with specific language impairment and autism spectrum disorders

Both children with autism spectrum disorders (ASD) and children with specific language impairment (SLI) have been shown to have difficulties with grammatical processing. A comparison of these two populations w...

Authors: Susan Ellis Weismer, Meghan M. Davidson, Ishanti Gangopadhyay, Heidi Sindberg, Hettie Roebuck and Margarita Kaushanskaya

Autism spectrum disorder and epileptic encephalopathy: common causes, many questions

Epileptic encephalopathies represent a particularly severe form of epilepsy, associated with cognitive and behavioral deficits, including impaired social-communication and restricted, repetitive behaviors that...

Authors: Siddharth Srivastava and Mustafa Sahin

Neural patterns elicited by sentence processing uniquely characterize typical development, SLI recovery, and SLI persistence

A substantial amount of work has examined language abilities in young children with specific language impairment (SLI); however, our understanding of the developmental trajectory of language impairment is limi...

Authors: Eileen Haebig, Christine Weber, Laurence B. Leonard, Patricia Deevy and J. Bruce Tomblin

Arbaclofen in fragile X syndrome: results of phase 3 trials

Arbaclofen improved multiple abnormal phenotypes in animal models of fragile X syndrome (FXS) and showed promising results in a phase 2 clinical study. The objective of the study is to determine safety and eff...

Authors: Elizabeth Berry-Kravis, Randi Hagerman, Jeannie Visootsak, Dejan Budimirovic, Walter E. Kaufmann, Maryann Cherubini, Peter Zarevics, Karen Walton-Bowen, Paul Wang, Mark F. Bear and Randall L. Carpenter

Acamprosate in a mouse model of fragile X syndrome: modulation of spontaneous cortical activity, ERK1/2 activation, locomotor behavior, and anxiety

Fragile X Syndrome (FXS) occurs as a result of a silenced fragile X mental retardation 1 gene (FMR1) and subsequent loss of fragile X mental retardation protein (FMRP) expression. Loss of FMRP alters excitatory/i...

Authors: Tori L. Schaefer, Matthew H. Davenport, Lindsay M. Grainger, Chandler K. Robinson, Anthony T. Earnheart, Melinda S. Stegman, Anna L. Lang, Amy A. Ashworth, Gemma Molinaro, Kimberly M. Huber and Craig A. Erickson

Updated report on tools to measure outcomes of clinical trials in fragile X syndrome

Fragile X syndrome (FXS) has been the neurodevelopmental disorder with the most active translation of preclinical breakthroughs into clinical trials. This process has led to a critical assessment of outcome me...

Authors: Dejan B. Budimirovic, Elizabeth Berry-Kravis, Craig A. Erickson, Scott S. Hall, David Hessl, Allan L. Reiss, Margaret K. King, Leonard Abbeduto and Walter E. Kaufmann

Fragile X targeted pharmacotherapy: lessons learned and future directions

Our understanding of fragile X syndrome (FXS) pathophysiology continues to improve and numerous potential drug targets have been identified. Yet, current prescribing practices are only symptom-based in order t...

Authors: Craig A. Erickson, Matthew H. Davenport, Tori L. Schaefer, Logan K. Wink, Ernest V. Pedapati, John A. Sweeney, Sarah E. Fitzpatrick, W. Ted Brown, Dejan Budimirovic, Randi J. Hagerman, David Hessl, Walter E. Kaufmann and Elizabeth Berry-Kravis

Translation in fragile X: no home runs in the first at-bat

Authors: Jeremy Veenstra-VanderWeele

Diagnoses and characteristics of autism spectrum disorders in children with Prader-Willi syndrome

A small percentage of people with autism spectrum disorders (ASD) have alterations in chromosome 15q11.2-q3, the critical region for Prader-Willi syndrome (PWS). Data are limited, however, on the rates and cha...

Authors: Elisabeth M. Dykens, Elizabeth Roof, Hailee Hunt-Hawkins, Nathan Dankner, Evon Batey Lee, Carolyn M. Shivers, Christopher Daniell and Soo-Jeong Kim

Exploring the heterogeneity of neural social indices for genetically distinct etiologies of autism

Autism spectrum disorder (ASD) is a genetically and phenotypically heterogeneous disorder. Promising initiatives utilizing interdisciplinary characterization of ASD suggest phenotypic subtypes related to speci...

Authors: Caitlin M. Hudac, Holly A. F. Stessman, Trent D. DesChamps, Anna Kresse, Susan Faja, Emily Neuhaus, Sara Jane Webb, Evan E. Eichler and Raphael A. Bernier

Motor problems in children with neurofibromatosis type 1

Children with the neurogenetic disorder neurofibromatosis type 1 (NF1) often have problems with learning and behaviour. In both parent reports and neuropsychological assessment, motor problems are reported in ...

Authors: André B. Rietman, Rianne Oostenbrink, Sanne Bongers, Eddy Gaukema, Sandra van Abeelen, Jos G. Hendriksen, Caspar W. N. Looman, Pieter F. A. de Nijs and Marie-Claire de Wit