Articles

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

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

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

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

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

Authors: Jeremy Veenstra-VanderWeele

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

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

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

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

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

Clinicians have qualitatively described rhythmic delta activity as a prominent EEG abnormality in individuals with Angelman syndrome, but this phenotype has yet to be rigorously quantified in the clinical popu...

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

Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety

Autonomic dysfunction is implicated in a range of psychological conditions, including depression and anxiety. The fragile X mental retardation-1 (FMR1) premutation is a common genetic mutation that affects ~1:150...

Authors: Jessica Klusek, Giuseppe LaFauci, Tatyana Adayev, W. Ted Brown, Flora Tassone and Jane E. Roberts

Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study

Rett syndrome is a severe neurodevelopmental disorder associated with mutations in the MECP2 gene. Irregular breathing patterns and abdominal bloating are prominent but poorly understood features. Our aims were t...

Authors: Jessica Mackay, Jenny Downs, Kingsley Wong, Jane Heyworth, Amy Epstein and Helen Leonard

Atypical sound discrimination in children with ASD as indicated by cortical ERPs

Individuals with autism spectrum disorder (ASD) show a relative indifference to the human voice. Accordingly, and contrarily to their typically developed peers, adults with autism do not show a preferential re...

Authors: Aurélie Bidet-Caulet, Marianne Latinus, Sylvie Roux, Joëlle Malvy, Frédérique Bonnet-Brilhault and Nicole Bruneau

A resting EEG study of neocortical hyperexcitability and altered functional connectivity in fragile X syndrome

Cortical hyperexcitability due to abnormal fast-spiking inhibitory interneuron function has been documented in fmr1 KO mice, a mouse model of the fragile X syndrome which is the most common single gene cause of a...

Authors: Jun Wang, Lauren E. Ethridge, Matthew W. Mosconi, Stormi P. White, Devin K. Binder, Ernest V. Pedapati, Craig A. Erickson, Matthew J. Byerly and John A. Sweeney

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

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

Preserved search asymmetry in the detection of fearful faces among neutral faces in individuals with Williams syndrome revealed by measurement of both manual responses and eye tracking

Individuals with Williams syndrome (WS) exhibit an atypical social phenotype termed hypersociability. One theory accounting for hypersociability presumes an atypical function of the amygdala, which processes f...

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

Altered functional resting-state hypothalamic connectivity and abnormal pituitary morphology in children with Prader-Willi syndrome

Prader-Willi syndrome (PWS) is a complex neurodevelopmental disorder, characterized by endocrine problems and hyperphagia, indicating hypothalamic-pituitary dysfunction. However, few studies have explored the ...

Authors: Akvile Lukoshe, Suzanne E. van Dijk, Gerbrich E. van den Bosch, Aad van der Lugt, Tonya White and Anita C. Hokken-Koelega

Combined genome-wide linkage and targeted association analysis of head circumference in autism spectrum disorder families

It has long been recognized that there is an association between enlarged head circumference (HC) and autism spectrum disorder (ASD), but the genetics of HC in ASD is not well understood. In order to investiga...

Authors: M. Woodbury-Smith, D. A. Bilder, J. Morgan, L. Jerominski, T. Darlington, T. Dyer, A. D. Paterson and H. Coon

Lateralization of ERPs to speech and handedness in the early development of Autism Spectrum Disorder

Language is a highly lateralized function, with typically developing individuals showing left hemispheric specialization. Individuals with autism spectrum disorder (ASD) often show reduced or reversed hemisphe...

Authors: Kayla H. Finch, Anne M. Seery, Meagan R. Talbott, Charles A. Nelson and Helen Tager-Flusberg

Genotype- and sex-dependent effects of altered Cntnap2 expression on the function of visual cortical areas

Autism spectrum disorder (ASD) is a heritable, heterogeneous neurodevelopmental disorder that is four times more likely to affect males than females. Despite this overt sex bias, it is unclear how genetic muta...

Authors: Leah B. Townsend and Spencer L. Smith

Distinct neural bases of disruptive behavior and autism symptom severity in boys with autism spectrum disorder

Disruptive behavior in autism spectrum disorder (ASD) is an important clinical problem, but its neural basis remains poorly understood. The current research aims to better understand the neural underpinnings o...

Authors: Y. J. Daniel Yang, Denis G. Sukhodolsky, Jiedi Lei, Eran Dayan, Kevin A. Pelphrey and Pamela Ventola

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

Verbal labels increase the salience of novel objects for preschoolers with typical development and Williams syndrome, but not in autism

Early research has documented that young children show an increased interest toward objects that are verbally labeled by an adult, compared to objects that are presented without a label. It is unclear whether ...

Authors: Giacomo Vivanti, Darren R. Hocking, Peter Fanning and Cheryl Dissanayake

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