Articles

Parahippocampal deactivation and hyperactivation of central executive, saliency and social cognition networks in autism spectrum disorder

The concomitant role of the Central Executive, the Saliency and the Social Cognition networks in autism spectrum disorder (ASD) in demanding ecological tasks remains unanswered. We addressed this question usin...

Authors: Susana Mouga, Isabel Catarina Duarte, Cátia Café, Daniela Sousa, Frederico Duque, Guiomar Oliveira and Miguel Castelo-Branco

Down-regulation of the brain-specific cell-adhesion molecule contactin-3 in tuberous sclerosis complex during the early postnatal period

The genetic disorder tuberous sclerosis complex (TSC) is frequently accompanied by the development of neuropsychiatric disorders, including autism spectrum disorder and intellectual disability, with varying de...

Authors: Anatoly Korotkov, Mark J. Luinenburg, Alessia Romagnolo, Till S. Zimmer, Jackelien van Scheppingen, Anika Bongaarts, Diede W. M. Broekaart, Jasper J. Anink, Caroline Mijnsbergen, Floor E. Jansen, Wim van Hecke, Wim G. Spliet, Peter C. van Rijen, Martha Feucht, Johannes A. Hainfellner, Pavel Krsek…

Family history of FXTAS is associated with age-related cognitive-linguistic decline among mothers with the FMR1 premutation

Women who carry a premutation allele of the FMR1 gene are at increased vulnerability to an array of age-related symptoms and disorders, including age-related decline in select cognitive skills. However, the risk ...

Authors: Jessica Klusek, Amanda Fairchild, Carly Moser, Marsha R. Mailick, Angela John Thurman and Leonard Abbeduto

Neural correlates of face processing associated with development of social communication in 12-month infants with familial risk of autism spectrum disorder

Differences in face processing in individuals with ASD is hypothesized to impact the development of social communication skills. This study aimed to characterize the neural correlates of face processing in 12-...

Authors: Joshua Glauser, Carol L. Wilkinson, Laurel J. Gabard-Durnam, Boin Choi, Helen Tager-Flusberg and Charles A. Nelson

Social behavior in RASopathies and idiopathic autism

RASopathies are genetic syndromes that result from pathogenic variants in the RAS-MAPK cellular signaling pathway. These syndromes, which include neurofibromatosis type 1, Noonan syndrome, cardiofaciocutaneous...

Authors: Allison M. H. Foy, Rebekah L. Hudock, Ryan Shanley and Elizabeth I. Pierpont

Social communication in fragile X syndrome: pilot examination of the Brief Observation of Social Communication Change (BOSCC)

Social communication is a key area of difficulty in fragile X syndrome (FXS) and there are not yet adequate outcome measurement tools. Appropriate outcome measures for FXS have been identified as a key area of...

Authors: Rebecca Shaffer, Angela John Thurman, Lucienne Ronco, Diego Cadavid, Shane Raines and So Hyun Kim

Feasibility of delivering parent-implemented NDBI interventions in low-resource regions: a pilot randomized controlled study

This implementation feasibility study was conducted to determine whether an evidence-based parent-implemented distance-learning intervention model for young children at high likelihood of having ASD could be i...

Authors: Sally J. Rogers, Aubyn Stahmer, Meagan Talbott, Gregory Young, Elizabeth Fuller, Melanie Pellecchia, Angela Barber and Elizabeth Griffith

Trajectories of imitation skills in preschoolers with autism spectrum disorders

Imitation skills play a crucial role in social cognitive development from early childhood. Many studies have shown a deficit in imitation skills in children with autism spectrum disorders (ASD). Little is know...

Authors: Irène Pittet, Nada Kojovic, Martina Franchini and Marie Schaer

Behavioural and psychological features of PTEN mutations: a systematic review of the literature and meta-analysis of the prevalence of autism spectrum disorder characteristics

Phosphatase and tensin homologue (PTEN) is a cancer suppressor gene. Constitutional mutations affecting this gene are associated with several conditions, collectively termed PTEN hamartoma tumour syndromes (PHTS...

Authors: Katherine Cummings, Alice Watkins, Chris Jones, Renuka Dias and Alice Welham

Correction to: The prevalence and profile of autism in individuals born preterm: a systematic review and meta-analysis

Authors: Catherine Laverty, Andrew Surtees, Rory O’Sullivan, Daniel Sutherland, Christopher Jones and Caroline Richards

Patterns of psychopathology and cognition in sex chromosome aneuploidy

Sex chromosome aneuploidies (SCAs) are a collectively common family of genetic disorders that increase the risk for neuropsychiatric and cognitive impairment. Beyond being important medical disorders in their ...

Authors: Srishti Rau, Ethan T. Whitman, Kimberly Schauder, Nikhita Gogate, Nancy Raitano Lee, Lauren Kenworthy and Armin Raznahan

Symptom rates and profile clustering in tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)

Tuberous Sclerosis Complex (TSC) is associated with a range of neuropsychiatric difficulties, appropriately termed TSC-Associated Neuropsychiatric Disorders (TAND). The objectives of the study were to analyze ...

Authors: Samuel Alperin, Darcy A. Krueger, David N. Franz, Karen D. Agricola, Gabrielle Stires, Paul S. Horn and Jamie K. Capal

MeCP2 haplodeficiency and early-life stress interaction on anxiety-like behavior in adolescent female mice

Early-life stress can leave persistent epigenetic marks that may modulate vulnerability to psychiatric conditions later in life, including anxiety, depression and stress-related disorders. These are complex di...

Authors: María Abellán-Álvaro, Oliver Stork, Carmen Agustín-Pavón and Mónica Santos

Social visual attentional engagement and memory in Phelan-McDermid syndrome and autism spectrum disorder: a pilot eye tracking study

The current study used eye tracking to investigate attention and recognition memory in Phelan-McDermid syndrome (PMS), a rare genetic disorder characterized by intellectual disability, motor delays, and a high...

Authors: Sylvia B. Guillory, Victoria Z. Baskett, Hannah E. Grosman, Christopher S. McLaughlin, Emily L. Isenstein, Emma Wilkinson, Jordana Weissman, Bari Britvan, M. Pilar Trelles, Danielle B. Halpern, Joseph D. Buxbaum, Paige M. Siper, A. Ting Wang, Alexander Kolevzon and Jennifer H. Foss-Feig

Prediction of autism spectrum disorder diagnosis using nonlinear measures of language-related EEG at 6 and 12 months

Early identification of autism spectrum disorder (ASD) provides an opportunity for early intervention and improved developmental outcomes. The use of electroencephalography (EEG) in infancy has shown promise i...

Authors: Fleming C. Peck, Laurel J. Gabard-Durnam, Carol L. Wilkinson, William Bosl, Helen Tager-Flusberg and Charles A. Nelson

Developing and evaluating treatments for the challenges of autism and related neurodevelopmental disabilities

Authors: Leonard Abbeduto and Mustafa Sahin

Comparison of SHANK3 deficiency in animal models: phenotypes, treatment strategies, and translational implications

Autism spectrum disorder (ASD) is a neurodevelopmental condition, which is characterized by clinical heterogeneity and high heritability. Core symptoms of ASD include deficits in social communication and inter...

Authors: Jan Philipp Delling and Tobias M. Boeckers

Pleiotropy between language impairment and broader behavioral disorders—an investigation of both common and rare genetic variants

Language plays a major role in human behavior. For this reason, neurodevelopmental and psychiatric disorders in which linguistic ability is impaired could have a big impact on the individual’s social interacti...

Authors: Ron Nudel, Vivek Appadurai, Alfonso Buil, Merete Nordentoft and Thomas Werge

Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome

Phelan McDermid syndrome (PMS) is a neurogenetic condition associated with a high prevalence of intellectual disability (ID) and autism spectrum disorder (ASD). This study provides a more comprehensive and qua...

Authors: Siddharth Srivastava, Emma Condy, Erin Carmody, Rajna Filip-Dhima, Kush Kapur, Jonathan A. Bernstein, Elizabeth Berry-Kravis, Craig M. Powell, Latha Soorya, Audrey Thurm, Joseph D. Buxbaum, Mustafa Sahin and Alexander Kolevzon

Turner syndrome: language profile of young girls at 12 and 24 months of age

Turner syndrome (TS) is a genetic disorder associated with complete or partial absence of an X chromosome affecting approximately 1/2000 live female births. Available evidence suggests that, in the school-age ...

Authors: Debra B. Reinhartsen, Emil Cornea, Margaret DeRamus, Angelia B. Waitt, Rebecca Edmondson Pretzel, Rebecca C. Knickmeyer, Marsha L. Davenport, John H. Gilmore and Stephen R. Hooper

Neurodevelopmental and psychiatric disorders in females with Turner syndrome: a population-based study

Turner syndrome is the result of the partial or complete absence of an X chromosome in phenotypic girls. This can cause an array of medical and developmental difficulties. The intelligence quotient in females ...

Authors: Hanna Björlin Avdic, Agnieszka Butwicka, Anna Nordenström, Catarina Almqvist, Agneta Nordenskjöld, Hedvig Engberg and Louise Frisén

Oxidative stress indices in ASD children in Sub-Sahara Africa

The pathogenesis of autism spectrum disorder (ASD) remains a medical challenge even in the developed world. Although genetics and epigenetic factors have been variously indicted as major causes of the disorder...

Authors: Ishiaq Olayinka Omotosho, Adekunbi Olufunke Akinade, Ikeoluwa Abiola Lagunju and Momoh A. Yakubu

Pre-symptomatic intervention for autism spectrum disorder (ASD): defining a research agenda

Autism spectrum disorder (ASD) impacts an individual’s ability to socialize, communicate, and interact with, and adapt to, the environment. Over the last two decades, research has focused on early identificati...

Authors: Rebecca Grzadzinski, Dima Amso, Rebecca Landa, Linda Watson, Michael Guralnick, Lonnie Zwaigenbaum, Gedeon Deák, Annette Estes, Jessica Brian, Kevin Bath, Jed Elison, Leonard Abbeduto, Jason Wolff and Joseph Piven

Comparison of resting-state EEG between adults with Down syndrome and typically developing controls

Down syndrome (DS) is the most common genetic cause of intellectual disability (ID) worldwide. Understanding electrophysiological characteristics associated with DS provides potential mechanistic insights into...

Authors: Sarah Hamburg, Daniel Bush, Andre Strydom and Carla M. Startin

Increased 2-arachidonoyl-sn-glycerol levels normalize cortical responses to sound and improve behaviors in Fmr1 KO mice

Individuals with Fragile X syndrome (FXS) and autism spectrum disorder (ASD) exhibit an array of symptoms, including sociability deficits, increased anxiety, hyperactivity, and sensory hyperexcitability. It is...

Authors: Patricia S. Pirbhoy, Carrie R. Jonak, Rashid Syed, Donovan A. Argueta, Pedro A. Perez, Mark B. Wiley, Keon Hessamian, Jonathan W. Lovelace, Khaleel A. Razak, Nicholas V. DiPatrizio, Iryna M. Ethell and Devin K. Binder

DINOSAUR: an integrated cognitive-behavioral treatment for anxiety in young children with ASD

Anxiety disorders are highly prevalent in children and adolescents with autism spectrum disorder and often emerge before the age of 6 years. Yet, only a few studies have examined anxiety treatment for this gro...

Authors: Amy Keefer and Roma A. Vasa

Electroretinography and contrast sensitivity, complementary translational biomarkers of sensory deficits in the visual system of individuals with fragile X syndrome

Disturbances in sensory function are an important clinical feature of neurodevelopmental disorders such as fragile X syndrome (FXS). Evidence also directly connects sensory abnormalities with the clinical expr...

Authors: Olivier Perche, Fabien Lesne, Alain Patat, Susanne Raab, Roy Twyman, Robert H. Ring and Sylvain Briault

Impact of Working Together for adults with autism spectrum disorder: a multifamily group intervention

Adults with autism spectrum disorder (ASD) have lower engagement in their communities, higher rates of unemployment/underemployment, and continued difficulties with challenging behavior compared to their neuro...

Authors: Leann Smith DaWalt, Emily Hickey, Rebekah Hudock, Amy Esler and Marsha Mailick

Looking for consistency in an uncertain world: test-retest reliability of neurophysiological and behavioral readouts in autism

Autism spectrum disorders (ASD) are associated with altered sensory processing and perception. Scalp recordings of electrical brain activity time-locked to sensory events (event-related potentials; ERPs) provi...

Authors: Shlomit Beker, John J. Foxe, John Venticinque, Juliana Bates, Elizabeth M. Ridgeway, Roseann C. Schaaf and Sophie Molholm

Effects of sensory distraction and salience priming on emotion identification in autism: an fMRI study

Social interaction often occurs in noisy environments with many extraneous sensory stimuli. This is especially relevant for youth with autism spectrum disorders (ASD) who commonly experience sensory over-respo...

Authors: Genevieve Patterson, Kaitlin K. Cummings, Jiwon Jung, Nana J. Okada, Nim Tottenham, Susan Y. Bookheimer, Mirella Dapretto and Shulamite A. Green

The prevalence and profile of autism in individuals born preterm: a systematic review and meta-analysis

Preterm birth (<37 weeks) adversely affects development in behavioural, cognitive and mental health domains. Heightened rates of autism are identified in preterm populations, indicating that prematurity may co...

Authors: Catherine Laverty, Andrew Surtees, Rory O’Sullivan, Daniel Sutherland, Christopher Jones and Caroline Richards

Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder

CDKL5 deficiency disorder (CDD) is associated with refractory infantile onset epilepsy, global developmental delay, and variable features that include sleep, behavioral disturbances, and movement disorders. Cu...

Authors: Heather E. Olson, Carolyn I. Daniels, Isabel Haviland, Lindsay C. Swanson, Caitlin A. Greene, Anne Marie M. Denny, Scott T. Demarest, Elia Pestana-Knight, Xiaoming Zhang, Ahsan N. Moosa, Andrea Fidell, Judith L. Weisenberg, Bernhard Suter, Cary Fu, Jeffrey L. Neul, Alan K. Percy…

Genetic counseling as preventive intervention: toward individual specification of transgenerational autism risk

Although autism spectrum disorders (ASD) are among the most heritable of all neuropsychiatric syndromes, most affected children are born to unaffected parents. Recently, we reported an average increase of 3–5% ov...

Authors: Natasha Marrus, Tychele N. Turner, Elizabeth Forsen, Drew Bolster, Alison Marvin, Andrew Whitehouse, Laura Klinger, Christina A. Gurnett and J. N. Constantino

Utilization of telemedicine to support caregivers of young children with ASD and their Part C service providers: a comparison of intervention outcomes across three models of service delivery

Families of young children with autism spectrum disorder (ASD) frequently experience barriers to accessing evidence-based early intervention services. Telemedicine presents an opportunity to increase access to...

Authors: Laura L. Corona, J. Alacia Stainbrook, Kathleen Simcoe, Liliana Wagner, Bethena Fowler, Amy S. Weitlauf, A. Pablo Juárez and Zachary Warren

The gut-microbiota-brain axis in autism: what Drosophila models can offer?

The idea that alterations in gut-microbiome-brain axis (GUMBA)-mediated communication play a crucial role in human brain disorders like autism remains a topic of intensive research in various labs. Gastrointes...

Authors: Safa Salim, Ayesha Banu, Amira Alwa, Swetha B. M. Gowda and Farhan Mohammad

Predicting progress in word learning for children with autism and minimal verbal skills

Approximately 30% of children diagnosed with autism remain minimally verbal past age 5. Interventions are often effective in increasing spoken communication for some of these children. Clinical and research de...

Authors: Nancy C. Brady, Christine Kosirog, Kandace Fleming and Lindsay Williams

Neural correlates of schema-dependent episodic memory and association with behavioral flexibility in autism spectrum disorders and typical development

Conceptual knowledge frameworks termed schemas facilitate memory formation and are posited to support flexible behavior. In adults, the medial temporal lobe (MTL) and medial prefrontal cortex (mPFC) trade-off in ...

Authors: Kevin M. Cook, Xiaozhen You, Joseph Bradley Cherry, Junaid S. Merchant, Mary Skapek, Meredith D. Powers, Cara E. Pugliese, Lauren Kenworthy and Chandan J. Vaidya

Biomarkers for autism spectrum disorder: opportunities for magnetoencephalography (MEG)

This paper reviews a candidate biomarker for ASD, the M50 auditory evoked response component, detected by magnetoencephalography (MEG) and presents a position on the roles and opportunities for such a biomarke...

Authors: Timothy P. L. Roberts, Emily S. Kuschner and J. Christopher Edgar

Resting state EEG in youth with ASD: age, sex, and relation to phenotype

Identification of ASD biomarkers is a key priority for understanding etiology, facilitating early diagnosis, monitoring developmental trajectories, and targeting treatment efforts. Efforts have included explor...

Authors: Emily Neuhaus, Sarah J. Lowry, Megha Santhosh, Anna Kresse, Laura A. Edwards, Jack Keller, Erin J. Libsack, Veronica Y. Kang, Adam Naples, Allison Jack, Shafali Jeste, James C. McPartland, Elizabeth Aylward, Raphael Bernier, Susan Bookheimer, Mirella Dapretto…

Visual and somatosensory feedback mechanisms of precision manual motor control in autism spectrum disorder

Individuals with autism spectrum disorder (ASD) show deficits processing sensory feedback to reactively adjust ongoing motor behaviors. Atypical reliance on visual and somatosensory feedback each have been rep...

Authors: Robin L. Shafer, Zheng Wang, James Bartolotti and Matthew W. Mosconi

SARS-CoV-2 screening testing in schools for children with intellectual and developmental disabilities

Transmission of SARS-CoV-2 in schools primarily for typically developing children is rare. However, less is known about transmission in schools for children with intellectual and developmental disabilities (ID...

Authors: Michael R. Sherby, Tyler J. Walsh, Albert M. Lai, Julie A. Neidich, Joyce E. Balls-Berry, Stephanie M. Morris, Richard Head, Christopher G. Prener, Jason G. Newland and Christina A. Gurnett

Cerebral cortex and blood transcriptome changes in mouse neonates prenatally exposed to air pollution particulate matter

Prenatal exposure to air pollutants is associated with increased risk for neurodevelopmental and neurodegenerative disorders. However, few studies have identified transcriptional changes related to air polluta...

Authors: Amin Haghani, Jason I. Feinberg, Kristy C. Lewis, Christine Ladd-Acosta, Richard G. Johnson, Andrew E. Jaffe, Constantinos Sioutas, Caleb E. Finch, Daniel B. Campbell, Todd E. Morgan and Heather E. Volk

Neurodevelopmental profiles of preschool-age children in Flint, Michigan: a latent profile analysis

Children in Flint, Michigan, have experienced myriad sociodemographic adversities exacerbated by the Flint water crisis. To help inform child-focused prevention and intervention efforts, we aimed to describe p...

Authors: Shuting Zheng, Somer L. Bishop, Tiffany Ceja, Mona Hanna-Attisha and Kaja LeWinn

Autism spectrum disorder in females with fragile X syndrome: a systematic review and meta-analysis of prevalence

Whilst up to 60% of males with fragile X syndrome (FXS) meet criteria for autism spectrum disorder (ASD), the prevalence and nature of ASD in females with FXS remains unclear.

Authors: M. Marlborough, A. Welham, C. Jones, S. Reckless and J. Moss

Behavioural and physiological response to frustration in autistic youth: associations with irritability

Irritability is a common and impairing occurrence in autistic youth, yet the underlying mechanisms are not well-known. In typically developing populations, differences in frustration response have been suggest...

Authors: Virginia Carter Leno, Georgia Forth, Susie Chandler, Philippa White, Isabel Yorke, Tony Charman, Andrew Pickles and Emily Simonoff

Characterisation of the clinical phenotype in Phelan-McDermid syndrome

Phelan-McDermid syndrome (PMS) is a rare genetic disorder compromising the 22q13 terminal region and affecting SHANK3, a gene crucial to the neurobehavioural phenotype and strongly linked to autism (ASD) and inte...

Authors: Mónica Burdeus-Olavarrieta, Antonia San José-Cáceres, Alicia García-Alcón, Javier González-Peñas, Patricia Hernández-Jusdado and Mara Parellada-Redondo

Behavioral features in Prader-Willi syndrome (PWS): consensus paper from the International PWS Clinical Trial Consortium

Prader-Willi syndrome (PWS) is a rare neurodevelopmental genetic disorder associated with a characteristic behavioral phenotype that includes severe hyperphagia and a variety of other behavioral challenges suc...

Authors: Lauren Schwartz, Assumpta Caixàs, Anastasia Dimitropoulos, Elisabeth Dykens, Jessica Duis, Stewart Einfeld, Louise Gallagher, Anthony Holland, Lauren Rice, Elizabeth Roof, Parisa Salehi, Theresa Strong, Bonnie Taylor and Kate Woodcock

Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders

Neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD) and intellectual disability (ID), are common diagnoses with highly heterogeneous phenotypes and etiology. The genetics-first approa...

Authors: Anne B. Arnett, Tianyun Wang, Evan E. Eichler and Raphael A. Bernier

Inter-rater reliability of subthreshold psychotic symptoms in individuals with 22q11.2 deletion syndrome

Pathways leading to psychosis in 22q11.2 deletion syndrome (22q11.2DS) have been the focus of intensive research during the last two decades. One of the common clinical risk factors for the evolution of psycho...

Authors: Tyler M. Moore, Deby Salzer, Carrie E. Bearden, Monica E. Calkins, Wendy R. Kates, Leila Kushan, Robert Sean Gallagher, Dafna Sofrin Frumer, Ronnie Weinberger, Donna M. McDonald-McGinn, Raquel E. Gur and Doron Gothelf

Early differences in auditory processing relate to Autism Spectrum Disorder traits in infants with Neurofibromatosis Type I

Sensory modulation difficulties are common in children with conditions such as Autism Spectrum Disorder (ASD) and could contribute to other social and non-social symptoms. Positing a causal role for sensory pr...

Authors: Jannath Begum-Ali, Anna Kolesnik-Taylor, Isabel Quiroz, Luke Mason, Shruti Garg, Jonathan Green, Mark H. Johnson and Emily J. H. Jones