Articles

Expressive language development in adolescents with Down syndrome and fragile X syndrome: change over time and the role of family-related factors

It is well known that individuals with Down syndrome (DS) or fragile X syndrome (FXS) demonstrate expressive language difficulties beginning early in childhood. It is less clear, however, whether expressive la...

Authors: Laura del Hoyo Soriano, Angela John Thurman, Danielle Harvey, Sara T. Kover and Leonard Abbeduto

Effects of a postnatal Atrx conditional knockout in neurons on autism-like behaviours in male and female mice

Alpha-thalassemia/mental retardation, X-linked, or ATRX, is an autism susceptibility gene that encodes a chromatin remodeler. Mutations of ATRX result in the ATR-X intellectual disability syndrome and have been i...

Authors: Nicole Martin-Kenny and Nathalie G. Bérubé

Using generalizability theory to evaluate the comparative reliability of developmental measures in neurogenetic syndrome and low-risk populations

The lack of available measures that can reliably characterize early developmental skills in children with neurogenetic syndromes (NGS) poses a significant challenge for research on early development in these p...

Authors: Lisa R. Hamrick, Alison M. Haney, Bridgette L. Kelleher and Sean P. Lane

Hippocampal transcriptome analysis following maternal separation implicates altered RNA processing in a mouse model of fetal alcohol spectrum disorder

Fetal alcohol spectrum disorders (FASD) are common, seen in 1–5% of the population in the USA and Canada. Children diagnosed with FASD are not likely to remain with their biological parents, facing early mater...

Authors: Bonnie L. J. Alberry, Christina A. Castellani and Shiva M. Singh

Transcriptome analysis of neural progenitor cells derived from Lowe syndrome induced pluripotent stem cells: identification of candidate genes for the neurodevelopmental and eye manifestations

Lowe syndrome (LS) is caused by loss-of-function mutations in the X-linked gene OCRL, which codes for an inositol polyphosphate 5-phosphatase that plays a key role in endosome recycling, clathrin-coated pit fo...

Authors: Hequn Liu, Jesse Barnes, Erika Pedrosa, Nathaniel S. Herman, Franklin Salas, Ping Wang, Deyou Zheng and Herbert M. Lachman

Developmental studies in fragile X syndrome

Fragile X syndrome (FXS) is the most common single gene cause of autism and intellectual disabilities. Humans with FXS exhibit increased anxiety, sensory hypersensitivity, seizures, repetitive behaviors, cogni...

Authors: Khaleel A. Razak, Kelli C. Dominick and Craig A. Erickson

Controlled trial of lovastatin combined with an open-label treatment of a parent-implemented language intervention in youth with fragile X syndrome

The purpose of this study was to conduct a 20-week controlled trial of lovastatin (10 to 40 mg/day) in youth with fragile X syndrome (FXS) ages 10 to 17 years, combined with an open-label treatment of a parent...

Authors: Angela John Thurman, Laura A. Potter, Kyoungmi Kim, Flora Tassone, Amy Banasik, Sarah Nelson Potter, Lauren Bullard, Vivian Nguyen, Andrea McDuffie, Randi Hagerman and Leonard Abbeduto

Correction to: Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome: feasibility, practice effects, test-retest reliability, and construct validity

In the original publication of this article [1], the author name Leonard Abbeduto was misspelled as Leonardkk Abbeduto. The original article has been corrected.

Authors: Leonard Abbeduto, Elizabeth Berry-Kravis, Audra Sterling, Stephanie Sherman, Jamie O. Edgin, Andrea McDuffie, Anne Hoffmann, Debra Hamilton, Michael Nelson, Jeannie Aschkenasy and Angela John Thurman

Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome: feasibility, practice effects, test-retest reliability, and construct validity

The evaluation of treatment efficacy for individuals with fragile X syndrome (FXS) or intellectual disability (ID) more generally has been hampered by the lack of adequate outcome measures. We evaluated expres...

Authors: Leonard Abbeduto, Elizabeth Berry-Kravis, Audra Sterling, Stephanie Sherman, Jamie O. Edgin, Andrea McDuffie, Anne Hoffmann, Debra Hamilton, Michael Nelson, Jeannie Aschkenasy and Angela John Thurman

Four-year follow-up of a randomized controlled trial of choline for neurodevelopment in fetal alcohol spectrum disorder

Despite the high prevalence of fetal alcohol spectrum disorder (FASD), there are few interventions targeting its core neurocognitive and behavioral deficits. FASD is often conceptualized as static and permanen...

Authors: Jeffrey R. Wozniak, Birgit A. Fink, Anita J. Fuglestad, Judith K. Eckerle, Christopher J. Boys, Kristin E. Sandness, Joshua P. Radke, Neely C. Miller, Christopher Lindgren, Ann M. Brearley, Steven H. Zeisel and Michael K. Georgieff

BOLD differences normally attributed to inhibitory control predict symptoms, not task-directed inhibitory control in ADHD

Altered brain activity that has been observed in attention deficit hyperactivity disorder (ADHD) while performing cognitive control tasks like the stop signal task (SST) has generally been interpreted as refle...

Authors: Andre Chevrier and Russell J. Schachar

Psychiatric illness and regression in individuals with Phelan-McDermid syndrome

Phelan-McDermid syndrome (PMS) is a genetic condition characterized by intellectual disability, speech and language deficits, hypotonia, autism spectrum disorder, and epilepsy. PMS is caused by 22q13.33 deleti...

Authors: Teresa M. Kohlenberg, M. Pilar Trelles, Brittany McLarney, Catalina Betancur, Audrey Thurm and Alexander Kolevzon

Cognitive correlates of attention-deficit hyperactivity disorder in children and adolescents with high intellectual ability

There is an ongoing debate as to whether attention-deficit hyperactivity disorder (ADHD) in highly intelligent individuals has a similar presentation as in average intelligent individuals. The aim of this stud...

Authors: María Cadenas, Catharina Hartman, Stephen Faraone, Kevin Antshel, África Borges, Lianne Hoogeveen and Nanda Rommelse

Quantitative trait variation in ASD probands and toddler sibling outcomes at 24 months

Younger siblings of children with autism spectrum disorder (ASD) are at increased likelihood of receiving an ASD diagnosis and exhibiting other developmental concerns. It is unknown how quantitative variation ...

Authors: Jessica B. Girault, Meghan R. Swanson, Shoba S. Meera, Rebecca L. Grzadzinski, Mark D. Shen, Catherine A. Burrows, Jason J. Wolff, Juhi Pandey, Tanya St John, Annette Estes, Lonnie Zwaigenbaum, Kelly N. Botteron, Heather C. Hazlett, Stephen R. Dager, Robert T. Schultz, John N. Constantino…

Health comorbidities and cognitive abilities across the lifespan in Down syndrome

Down syndrome (DS) is associated with variable intellectual disability and multiple health and psychiatric comorbidities. The impact of such comorbidities on cognitive outcomes is unknown. We aimed to describe...

Authors: Carla M. Startin, Hana D’Souza, George Ball, Sarah Hamburg, Rosalyn Hithersay, Kate M. O. Hughes, Esha Massand, Annette Karmiloff-Smith, Michael S. C. Thomas and Andre Strydom

A telehealth approach to improving clinical trial access for infants with tuberous sclerosis complex

Research in rare genetic syndromes associated with ASD is often hampered by the wide geographic distribution of families and the presence of medical comorbidities, such as epilepsy, that may preclude travel to...

Authors: Carly Hyde, Maria Pizzano, Nicole M. McDonald, Charles A. Nelson III, Connie Kasari, Elizabeth A. Thiele and Shafali S. Jeste

Guanfacine treatment improves ADHD phenotypes of impulsivity and hyperactivity in a neurofibromatosis type 1 mouse model

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with a mutation in one copy of the neurofibromin gene (NF1^+/−). Even though approximately 40–60% of children with NF1 meet the criteria for attenti...

Authors: J. L. Lukkes, H. P. Drozd, S. D. Fitz, A. I. Molosh, D. W. Clapp and A. Shekhar

Postural control processes during standing and step initiation in autism spectrum disorder

Individuals with autism spectrum disorder (ASD) show a reduced ability to maintain postural stability, though motor control mechanisms contributing to these issues and the extent to which they are associated w...

Authors: Erin K. Bojanek, Zheng Wang, Stormi P. White and Matthew W. Mosconi

Initial eye gaze to faces and its functional consequence on face identification abilities in autism spectrum disorder

Autism spectrum disorder (ASD) is a neurodevelopmental disorder defined and diagnosed by core deficits in social communication and the presence of restricted and repetitive behaviors. Research on face processi...

Authors: Kimberly B. Schauder, Woon Ju Park, Yuliy Tsank, Miguel P. Eckstein, Duje Tadin and Loisa Bennetto

Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome

Fragile X syndrome (FXS) is a common cause of intellectual disability and autism spectrum disorder (ASD) usually associated with a CGG expansion, termed full mutation (FM: CGG ≥ 200), increased DNA methylation...

Authors: Emma K. Baker, Marta Arpone, Solange Aliaga Vera, Lesley Bretherton, Alexandra Ure, Claudine M. Kraan, Minh Bui, Ling Ling, David Francis, Matthew F. Hunter, Justine Elliott, Carolyn Rogers, Michael J. Field, Jonathan Cohen, Lorena Santa Maria, Victor Faundes…

Quantifying the resolution of spatial and temporal representation in children with 22q11.2 deletion syndrome

Our ability to generate mental representation of magnitude from sensory information affects how we perceive and experience the world. Reduced resolution of the mental representations formed from sensory inputs...

Authors: Kathryn L. McCabe, Abbie M. Popa, Courtney Durdle, Michele Amato, Margarita H. Cabaral, Joshua Cruz, Ling M. Wong, Danielle Harvey, Nicole Tartaglia and Tony J. Simon

Adaptation of the Clinical Dementia Rating Scale for adults with Down syndrome

Adults with Down syndrome (DS) are at increased risk for Alzheimer disease dementia, and there is a pressing need for the development of assessment instruments that differentiate chronic cognitive impairment, ...

Authors: Christina N. Lessov-Schlaggar, Olga L. del Rosario, John C. Morris, Beau M. Ances, Bradley L. Schlaggar and John N. Constantino

White matter and neurodevelopmental disorders: honoring Jean De Vellis through the work of the NICHD-funded intellectual and developmental disabilities research centers

Authors: Heather Cody Hazlett and Vittorio Gallo

The impact of expressive language development and the left inferior longitudinal fasciculus on listening and reading comprehension

During the first 3-years of life, as the brain undergoes dramatic growth, children begin to develop speech and language. Hallmarks of this progression are seen when children reach developmental milestones, for...

Authors: Stephanie N. Del Tufo, F. Sayako Earle and Laurie E. Cutting

Early white matter development is abnormal in tuberous sclerosis complex patients who develop autism spectrum disorder

Autism spectrum disorder (ASD) is prevalent in tuberous sclerosis complex (TSC), occurring in approximately 50% of patients, and is hypothesized to be caused by disruption of neural circuits early in life. Tub...

Authors: Anna K. Prohl, Benoit Scherrer, Xavier Tomas-Fernandez, Peter E. Davis, Rajna Filip-Dhima, Sanjay P. Prabhu, Jurriaan M. Peters, E. Martina Bebin, Darcy A. Krueger, Hope Northrup, Joyce Y. Wu, Mustafa Sahin and Simon K. Warfield

Spatiotemporal development of spinal neuronal and glial populations in the Ts65Dn mouse model of Down syndrome

Down syndrome (DS), caused by the triplication of chromosome 21, results in a constellation of clinical features including changes in intellectual and motor function. Although altered neural development and fu...

Authors: Nadine M. Aziz, Jenny A. Klein, Morgan R. Brady, Jose Luis Olmos-Serrano, Vittorio Gallo and Tarik F. Haydar

Reducing Th2 inflammation through neutralizing IL-4 antibody rescues myelination in IUGR rat brain

Intrauterine growth restriction (IUGR) is a common complication of pregnancy and is associated with significant neurological deficits in infants, including white matter damage. Previous work using an animal mo...

Authors: Allison E. Zanno, Micah A. Romer, Lauren Fox, Thea Golden, Lane Jaeckle-Santos, Rebecca A. Simmons and Judith B. Grinspan

White matter as a monitoring biomarker for neurodevelopmental disorder intervention studies

Early intervention is a valuable tool to support the development of toddlers with neurodevelopmental disorders. With recent research advances in early identification that allow for pre-symptomatic detection of...

Authors: Meghan R. Swanson and Heather C. Hazlett

A diffusion-weighted imaging tract-based spatial statistics study of autism spectrum disorder in preschool-aged children

The core symptoms of autism spectrum disorder (ASD) are widely theorized to result from altered brain connectivity. Diffusion-weighted magnetic resonance imaging (DWI) has been a versatile method for investiga...

Authors: Derek Sayre Andrews, Joshua K. Lee, Marjorie Solomon, Sally J. Rogers, David G. Amaral and Christine Wu Nordahl

The role of glia in epilepsy, intellectual disability, and other neurodevelopmental disorders in tuberous sclerosis complex

Tuberous sclerosis complex (TSC) is a genetic disorder characterized by severe neurological manifestations, including epilepsy, intellectual disability, autism, and a range of other behavioral and psychiatric ...

Authors: Michael Wong

Mitochondrial aminoacyl-tRNA synthetase disorders: an emerging group of developmental disorders of myelination

The mitochondrial aminoacyl-tRNA synthetase proteins (mt-aaRSs) are a group of nuclear-encoded enzymes that facilitate conjugation of each of the 20 amino acids to its cognate tRNA molecule. Mitochondrial dise...

Authors: Amena Smith Fine, Christina L. Nemeth, Miriam L. Kaufman and Ali Fatemi

In memory of Jean de Vellis (1935–2018)

Authors: Susan Y. Bookheimer and Harley I. Kornblum

Refining the concept of GFAP toxicity in Alexander disease

Alexander disease is caused by dominantly acting mutations in glial fibrillary acidic protein (GFAP), the major intermediate filament of astrocytes in the central nervous system.

Authors: Albee Messing

Are there shared neural correlates between dyslexia and ADHD? A meta-analysis of voxel-based morphometry studies

Dyslexia and Attention-deficit/hyperactivity disorder (ADHD) are highly comorbid neurodevelopmental disorders (estimates of 25–40% bidirectional comorbidity). Previous work has identified strong genetic and co...

Authors: Lauren M. McGrath and Catherine J. Stoodley

Quantitative gait assessment in children with 16p11.2 syndrome

Neurodevelopmental disorders such as 16p11.2 syndrome are frequently associated with motor impairments including locomotion. The lack of precise measures of gait, combined with the challenges inherent in study...

Authors: Sylvie Goldman, Aston K. McCullough, Sally Dunaway Young, Carly Mueller, Adrianna Stahl, Audrey Zoeller, Laurel Daniels Abbruzzese, Ashwini K. Rao and Jacqueline Montes

Vocabulary comprehension in adults with fragile X syndrome (FXS)

Receptive and expressive vocabulary in adult and adolescent males with fragile X syndrome (FXS) have been shown as significantly lower than their chronological age; however, receptive vocabulary has been consi...

Authors: Anne Hoffmann, Sue Ellen Krause, Joanne Wuu, Sue Leurgans, Stephen J. Guter Jr, Sandra S. Block, Jeff Salt, Edwin Cook Jr, Dominick M. Maino and Elizabeth Berry-Kravis

Behavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromes

Pitt-Hopkins syndrome (PTHS) is a genetic neurodevelopmental disorder associated with intellectual disability. Although the genetic mechanisms underlying the disorder have been identified, description of its b...

Authors: Alice Watkins, Stacey Bissell, Jo Moss, Chris Oliver, Jill Clayton-Smith, Lorraine Haye, Mary Heald and Alice Welham

Developmental divergence: motor trajectories in children with fragile X syndrome with and without co-occurring autism

Autism spectrum disorder (ASD) is highly prevalent in fragile X syndrome (FXS), affecting 50–70% of males. Motor impairments are a shared feature across autism and FXS that may help to better characterize auti...

Authors: Elizabeth A. Will, Somer L. Bishop and Jane E. Roberts

Early negative affect in males and females with fragile X syndrome: implications for anxiety and autism

Fragile X syndrome (FXS) is a genetic disorder that is highly comorbid with anxiety and autism spectrum disorder (ASD). Elevated negative affect in young children has been associated with increased risk for bo...

Authors: Carla A. Wall, Abigail L. Hogan, Elizabeth A. Will, Samuel McQuillin, Bridgette L. Kelleher and Jane E. Roberts

Within-task variability on standardized language tests predicts autism spectrum disorder: a pilot study of the Response Dispersion Index

Qualitatively atypical language development characterized by non-sequential skill acquisition within a developmental domain, which has been called developmental deviance or difference, is a common characteristic ...

Authors: Abby E. Hare-Harris, Marissa W. Mitchel, Scott M. Myers, Aaron D. Mitchel, Brian R. King, Brittany G. Ruocco, Christa Lese Martin, Judy F. Flax and Linda M. Brzustowicz

Assessing general cognitive and adaptive abilities in adults with Down syndrome: a systematic review

Measures of general cognitive and adaptive ability in adults with Down syndrome (DS) used by previous studies vary substantially. This review summarises the different ability measures used previously, focusing...

Authors: Sarah Hamburg, Bryony Lowe, Carla Marie Startin, Concepcion Padilla, Antonia Coppus, Wayne Silverman, Juan Fortea, Shahid Zaman, Elizabeth Head, Benjamin L. Handen, Ira Lott, Weihong Song and André Strydom

Magnetoencephalographic (MEG) brain activity during a mental flexibility task suggests some shared neurobiology in children with neurodevelopmental disorders

Children with neurodevelopmental disorders (NDDs) exhibit a shared phenotype that involves executive dysfunctions including impairments in mental flexibility (MF). It is of interest to understand if this pheno...

Authors: Alexandra Mogadam, Anne E. Keller, Paul D. Arnold, Russell Schachar, Jason P. Lerch, Evdokia Anagnostou and Elizabeth W. Pang

Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression

The SYNGAP1 gene encodes for a small GTPase-regulating protein critical to dendritic spine maturation and synaptic plasticity. Mutations have recently been identified to cause a breadth of neurodevelopmental diso...

Authors: Andres Jimenez-Gomez, Sizhe Niu, Fabiola Andujar-Perez, Elizabeth A. McQuade, Alfred Balasa, David Huss, Rohini Coorg, Michael Quach, Sherry Vinson, Sarah Risen and J. Lloyd Holder Jr

STXBP1-associated neurodevelopmental disorder: a comparative study of behavioural characteristics

De novo loss of function mutations in STXBP1 are a relatively common cause of epilepsy and intellectual disability (ID). However, little is known about the types and severities of behavioural features associated ...

Authors: Sinéad O’Brien, Elise Ng-Cordell, Duncan E. Astle, Gaia Scerif and Kate Baker

A phase 1/2, open-label assessment of the safety, tolerability, and efficacy of transdermal cannabidiol (ZYN002) for the treatment of pediatric fragile X syndrome

Fragile X syndrome (FXS) is characterized by a range of developmental, neuropsychiatric, and behavioral symptoms that cause significant impairment in those with the disorder. Cannabidiol (CBD) holds promise as...

Authors: Helen Heussler, Jonathan Cohen, Natalie Silove, Nancy Tich, Marcel O. Bonn-Miller, Wei Du, Carol O’Neill and Terri Sebree

Electroencephalographic spectral power as a marker of cortical function and disease severity in girls with Rett syndrome

Rett syndrome is a neurodevelopmental disorder caused by a mutation in the X-linked MECP2 gene. Individuals with Rett syndrome typically develop normally until around 18 months of age before undergoing a developm...

Authors: Katherine J. Roche, Jocelyn J. LeBlanc, April R. Levin, Heather M. O’Leary, Lauren M. Baczewski and Charles A. Nelson

Infant regulatory function acts as a protective factor for later traits of autism spectrum disorder and attention deficit/hyperactivity disorder but not callous unemotional traits

Reduced executive functions (EF) are commonly associated with developmental conditions (e.g., autism spectrum disorder, ASD; attention deficit/hyperactivity disorder, ADHD), although EF seems to be typical in ...

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

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