Articles

A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case

Phelan-McDermid syndrome (PMS) is a rare genetic disorder characterized by global developmental delay, intellectual disability (ID), autism spectrum disorder (ASD), and mild dysmorphisms associated with severa...

Authors: Claudia Ismania Samogy-Costa, Elisa Varella-Branco, Frederico Monfardini, Helen Ferraz, Rodrigo Ambrósio Fock, Ricardo Henrique Almeida Barbosa, André Luiz Santos Pessoa, Ana Beatriz Alvarez Perez, Naila Lourenço, Maria Vibranovski, Ana Krepischi, Carla Rosenberg and Maria Rita Passos-Bueno

Children with facial paralysis due to Moebius syndrome exhibit reduced autonomic modulation during emotion processing

Facial mimicry is crucial in the recognition of others’ emotional state. Thus, the observation of others’ facial expressions activates the same neural representation of that affective state in the observer, al...

Authors: Elisa De Stefani, Martina Ardizzi, Ylenia Nicolini, Mauro Belluardo, Anna Barbot, Chiara Bertolini, Gioacchino Garofalo, Bernardo Bianchi, Gino Coudé, Lynne Murray and Pier Francesco Ferrari

Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders

Rare denovo variants represent a significant cause of neurodevelopmental delay and intellectual disability (ID).

Authors: Joanne Trinh, Krishna Kumar Kandaswamy, Martin Werber, Maximilian E. R. Weiss, Gabriela Oprea, Shivendra Kishore, Katja Lohmann and Arndt Rolfs

Impaired neurodevelopmental pathways in autism spectrum disorder: a review of signaling mechanisms and crosstalk

The development of an autistic brain is a highly complex process as evident from the involvement of various genetic and non-genetic factors in the etiology of the autism spectrum disorder (ASD). Despite being ...

Authors: Santosh Kumar, Kurt Reynolds, Yu Ji, Ran Gu, Sunil Rai and Chengji J. Zhou

Lesser suppression of response to bright visual stimuli and visual abnormality in children with autism spectrum disorder: a magnetoencephalographic study

Visual abnormality is a common sensory impairment in autism spectrum disorder (ASD), which may cause behavioral problems. However, only a few studies exist on the neural features corresponding to the visual sy...

Authors: Sho Aoki, Kuriko Kagitani-Shimono, Junko Matsuzaki, Ryuzo Hanaie, Mariko Nakanishi, Koji Tominaga, Yukie Nagai, Ikuko Mohri and Masako Taniike

Using kinematic analyses to explore sensorimotor control impairments in children with 22q11.2 deletion syndrome

The 22q11.2 deletion is associated with psychiatric and behavioural disorders, intellectual disability and multiple physical abnormalities. Recent research also indicates impaired coordination skills may be pa...

Authors: Adam C. Cunningham, Liam Hill, Mark Mon-Williams, Kathryn J. Peall, David E. J. Linden, Jeremy Hall, Michael J. Owen and Marianne B. M. van den Bree

In the line-up: deleted genes associated with DiGeorge/22q11.2 deletion syndrome: are they all suspects?

22q11.2 deletion syndrome (22q11DS), a copy number variation (CNV) disorder, occurs in approximately 1:4000 live births due to a heterozygous microdeletion at position 11.2 (proximal) on the q arm of human chr...

Authors: Zahra Motahari, Sally Ann Moody, Thomas Michael Maynard and Anthony-Samuel LaMantia

Lifespan trajectory of affect in Cornelia de Lange syndrome: towards a neurobiological hypothesis

Depressive symptomology and low affect are comparatively common in individuals with genetic disorders such as Cornelia de Lange syndrome. However, lifespan trajectories and associated person characteristics ha...

Authors: Laura Groves, Joanna Moss, Hayley Crawford, Lisa Nelson, Chris Stinton, Gursharan Singla and Chris Oliver

Cognitive training for children and adolescents with fragile X syndrome: a randomized controlled trial of Cogmed

Individuals with fragile X syndrome (FXS) typically demonstrate profound executive function (EF) deficits that interfere with learning, socialization, and emotion regulation. We completed the first large, non-...

Authors: David Hessl, Julie B. Schweitzer, Danh V. Nguyen, Yingratana A. McLennan, Cindy Johnston, Ryan Shickman and Yanjun Chen

Adaptation to different communicative contexts: an eye tracking study of autistic adults

Learning through social observation (i.e., watching other people interact) lays the foundation for later social skills and social cognition. However, social situations are often complex, and humans are only ca...

Authors: Julia Parish-Morris, Ashley A. Pallathra, Emily Ferguson, Brenna B. Maddox, Alison Pomykacz, Leat S. Perez, Leila Bateman, Juhi Pandey, Robert T. Schultz and Edward S. Brodkin

Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders

Ultra-rare genetic variants, including non-recurrent copy number variations (CNVs) affecting important dosage-sensitive genes, are important contributors to the etiology of neurodevelopmental disorders (NDDs)....

Authors: Gregory Costain, Susan Walker, Bob Argiropoulos, Danielle A. Baribeau, Anne S. Bassett, Erik Boot, Koen Devriendt, Barbara Kellam, Christian R. Marshall, Aparna Prasad, Moises A. Serrano, D. James Stavropoulos, Hope Twede, Joris R. Vermeesch, Jacob A. S. Vorstman and Stephen W. Scherer

Static and dynamic postural control deficits in aging fragile X mental retardation 1 (FMR1) gene premutation carriers

Individuals with premutation alleles of the fragile X mental retardation 1 (FMR1) gene are at risk of developing fragile X-associated tremor/ataxia syndrome (FXTAS) during aging. Characterization of motor issues ...

Authors: Zheng Wang, Pravin Khemani, Lauren M. Schmitt, Su Lui and Matthew W. Mosconi

Differentiating social preference and social anxiety phenotypes in fragile X syndrome using an eye gaze analysis: a pilot study

Fragile X syndrome (FXS) is the leading inherited cause of autism spectrum disorder, but there remains debate regarding the clinical presentation of social deficits in FXS. The aim of this study was to compare...

Authors: Michael P. Hong, Eleanor M. Eckert, Ernest V. Pedapati, Rebecca C. Shaffer, Kelli C. Dominick, Logan K. Wink, John A. Sweeney and Craig A. Erickson

Substance use and nicotine dependence in persistent, remittent, and late-onset ADHD: a 10-year longitudinal study from childhood to young adulthood

Attention-deficit/hyperactivity disorder (ADHD) is associated with substance use disorders (SUD; alcohol and/or drug dependence) and nicotine dependence. This study aims to advance our knowledge about the asso...

Authors: Shahrzad Ilbegi, Annabeth P. Groenman, Arnt Schellekens, Catharina A. Hartman, Pieter J. Hoekstra, Barbara Franke, Stephen V. Faraone, Nanda N. J. Rommelse and Jan K. Buitelaar

The reach-to-grasp movement in infants later diagnosed with autism spectrum disorder: a high-risk sibling cohort study

Although autism spectrum disorder (ASD) is characterized by impairments in social communication and the presence of repetitive behavior and/or restricted interests, there is evidence that motor impairments may...

Authors: Lori-Ann R. Sacrey, Lonnie Zwaigenbaum, Susan Bryson, Jessica Brian and Isabel M. Smith

Imaging episodic memory during development and childhood epilepsy

Epilepsy affects 2.2 million adults in the USA, with 1 in 26 people developing epilepsy at some point in their lives. Temporal lobe epilepsy (TLE) is the most common form of focal epilepsy as medial structures...

Authors: Leigh N. Sepeta, Madison M. Berl and William Davis Gaillard

Cerebrospinal fluid and the early brain development of autism

There is currently a renaissance of interest in the many functions of cerebrospinal fluid (CSF). Altered flow of CSF, for example, has been shown to impair the clearance of pathogenic inflammatory proteins inv...

Authors: Mark D. Shen

Aberrant structural and functional connectivity and neurodevelopmental impairment in preterm children

Despite advances in antenatal and neonatal care, preterm birth remains a leading cause of neurological disabilities in children. Infants born prematurely, particularly those delivered at the earliest gestation...

Authors: Cynthia E. Rogers, Rachel E. Lean, Muriah D. Wheelock and Christopher D. Smyser

Applying a network framework to the neurobiology of reading and dyslexia

There is a substantial literature on the neurobiology of reading and dyslexia. Differences are often described in terms of individual regions or individual cognitive processes. However, there is a growing appr...

Authors: Stephen K. Bailey, Katherine S. Aboud, Tin Q. Nguyen and Laurie E. Cutting

Inaugural annual special section of the intellectual and developmental disabilities research centers: developmental cognitive neuroscience and neurodevelopmental disorders

Authors: Shafali Spurling Jeste and Charles A. Nelson III

Statistical learning as a window into developmental disabilities

Until recently, most behavioral studies of children with intellectual and developmental disabilities (IDD) have used standardized assessments as a means to probe etiology and to characterize phenotypes. Over t...

Authors: Jenny R. Saffran

ADHD-related sex differences in fronto-subcortical intrinsic functional connectivity and associations with delay discounting

Attention-deficit/hyperactivity disorder (ADHD) is associated with atypical fronto-subcortical neural circuitry and heightened delay discounting, or a stronger preference for smaller, immediate rewards over la...

Authors: Keri S. Rosch, Stewart H. Mostofsky and Mary Beth Nebel

What’s missing in autism spectrum disorder motor assessments?

Motor delays and impairments in autism spectrum disorders (ASD) are extremely common and often herald the emergence of pervasive atypical development. Clinical accounts of ASD and standardized measures of moto...

Authors: Rujuta B. Wilson, James T. McCracken, Nicole J. Rinehart and Shafali S. Jeste

Arterial spin labeling provides a reliable neurobiological marker of autism spectrum disorder

Research on neurobiological markers of autism spectrum disorder (ASD) has been elusive. However, radionuclide studies of cerebral blood flow (CBF) have shown decreased blood flow (hypoperfusion) in the tempora...

Authors: Benjamin E. Yerys, John D. Herrington, Gregory K. Bartley, Hua-Shan Liu, John A. Detre and Robert T. Schultz

An emotion recognition subtyping approach to studying the heterogeneity and comorbidity of autism spectrum disorders and attention-deficit/hyperactivity disorder

Emotion recognition dysfunction has been reported in both autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD). This suggests that emotion recognition is a cross-disorder trait t...

Authors: Francesca Waddington, Catharina Hartman, Yvette de Bruijn, Martijn Lappenschaar, Anoek Oerlemans, Jan Buitelaar, Barbara Franke and Nanda Rommelse

Characterization of autism spectrum disorder and neurodevelopmental profiles in youth with XYY syndrome

XYY syndrome is a sex chromosome aneuploidy that occurs in ~ 1/850 male births and is associated with increased risk for neurodevelopmental difficulties. However, the profile of neurodevelopmental impairments,...

Authors: Lisa Joseph, Cristan Farmer, Colby Chlebowski, Laura Henry, Ari Fish, Catherine Mankiw, Anastasia Xenophontos, Liv Clasen, Bethany Sauls, Jakob Seidlitz, Jonathan Blumenthal, Erin Torres, Audrey Thurm and Armin Raznahan

Language delay aggregates in toddler siblings of children with autism spectrum disorder

Language delay is extremely common in children with autism spectrum disorder (ASD), yet it is unclear whether measurable variation in early language is associated with genetic liability for ASD. Assessment of ...

Authors: N Marrus, L P Hall, S J Paterson, J T Elison, J J Wolff, M R Swanson, J Parish-Morris, A T Eggebrecht, J R Pruett Jr., H C Hazlett, L Zwaigenbaum, S Dager, A M Estes, R T Schultz, K N Botteron, J Piven…

Emotional prosodic change detection in autism Spectrum disorder: an electrophysiological investigation in children and adults

Autism spectrum disorder (ASD) is characterized by atypical behaviors in social environments and in reaction to changing events. While this dyad of symptoms is at the core of the pathology along with atypical ...

Authors: J. Charpentier, K. Kovarski, E. Houy-Durand, J. Malvy, A. Saby, F. Bonnet-Brilhault, M. Latinus and M. Gomot

Neurophysiological correlates of holistic face processing in adolescents with and without autism spectrum disorder

Face processing has been found to be impaired in autism spectrum disorders (ASD). One hypothesis is that individuals with ASD engage in piecemeal compared to holistic face processing strategies. To investigate...

Authors: Sandra Naumann, Ulrike Senftleben, Megha Santhosh, James McPartland and Sara Jane Webb

Face processing in 22q11.2 deletion syndrome: atypical development and visual scanning alterations

Previous research links social difficulties to atypical face exploration in 22q11.2 deletion syndrome (22q11.2DS). Two types of face processing are distinguished: configural (CFP) and featural (FFP). CFP devel...

Authors: Alexandra Zaharia, Maude Schneider, Bronwyn Glaser, Martina Franchini, Sarah Menghetti, Marie Schaer, Martin Debbané and Stephan Eliez

Improving social gaze behavior in fragile X syndrome using a behavioral skills training approach: a proof of concept study

Individuals diagnosed with fragile X syndrome (FXS), the most common known inherited form of intellectual disability, commonly exhibit significant impairments in social gaze behavior during interactions with o...

Authors: Caitlin E. Gannon, Tobias C. Britton, Ellen H. Wilkinson and Scott S. Hall

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