Articles

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

Self-reported psychological disorders among the mothers of children with autism spectrum disorder, type 1 diabetes mellitus, and typically developed children

To assess the prevalence of symptoms of depression, anxiety, and stress among mothers of children with autism spectrum disorders (ASD), type 1 diabetes (DM), and typical development (TD), in a geographical are...

Authors: Ahmed Malalla Al Ansari, Mohamed Ismael Janahi, Abdulrahman J. AlTourah, Haitham Ali Jahrami and Mansour Bin Rajab

A multi-study examination of the role of repeated spaced retrieval in the word learning of children with developmental language disorder

Many children with developmental language disorders (DLD) have well-documented weaknesses in vocabulary. In recent years, investigators have explored the nature of these weaknesses through the use of novel wor...

Authors: Laurence B. Leonard, Sharon L. Christ, Patricia Deevy, Jeffrey D. Karpicke, Christine Weber, Eileen Haebig, Justin B. Kueser, Sofía Souto and Windi Krok

Co-occurring hydrocephalus in autism spectrum disorder: a Danish population-based cohort study

The association between autism spectrum disorder and hydrocephalus is not well understood, despite demonstrated links between autism spectrum disorder and cerebrospinal fluid abnormalities. Based on the hypoth...

Authors: Tina Nørgaard Munch, Paula Louise Hedley, Christian Munch Hagen, Marie Bækvad-Hansen, Jonas Bybjerg-Grauholm, Jakob Grove, Merete Nordentoft, Anders Dupont Børglum, Preben Bo Mortensen, Thomas Mears Werge, Mads Melbye, David Michael Hougaard and Michael Christiansen

FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring

FOXP1 syndrome is a neurodevelopmental disorder caused by mutations or deletions that disrupt the forkhead box protein 1 (FOXP1) gene, which encodes a transcription factor important for the early development of m...

Authors: Reymundo Lozano, Catherine Gbekie, Paige M. Siper, Shubhika Srivastava, Jeffrey M. Saland, Swathi Sethuram, Lara Tang, Elodie Drapeau, Yitzchak Frank, Joseph D. Buxbaum and Alexander Kolevzon

White matter microstructure associations with episodic memory in adults with Down syndrome: a tract-based spatial statistics study

Nearly all persons with Down syndrome will show pathology of Alzheimer’s disease in their 40s. There is a critical need for studies to identify early biomarkers of these various pathological changes of Alzheim...

Authors: Austin Bazydlo, Matthew Zammit, Minjie Wu, Douglas Dean, Sterling Johnson, Dana Tudorascu, Ann Cohen, Karly Cody, Beau Ances, Charles Laymon, William Klunk, Shahid Zaman, Benjamin Handen, Andrew Alexander, Bradley Christian and Sigan Hartley

Capturing cognitive and behavioral variability among individuals with Down syndrome: a latent profile analysis

There is a high degree of inter- and intra-individual variability observed within the phenotype of Down syndrome. The Down Syndrome Cognition Project was formed to capture this variability by developing a larg...

Authors: Marie Moore Channell, Laura J. Mattie, Debra R. Hamilton, George T. Capone, E. Mark Mahone, Stephanie L. Sherman, Tracie C. Rosser, Roger H. Reeves and Luther G. Kalb

Social cognition in 22q11.2 deletion syndrome and idiopathic developmental neuropsychiatric disorders

22q11.2 deletion syndrome (22q11DS) is a common recurrent neurogenetic condition associated with elevated risk for developmental neuropsychiatric disorders and intellectual disability. Children and adults with...

Authors: Rhideeta Jalal, Aarti Nair, Amy Lin, Ariel Eckfeld, Leila Kushan, Jamie Zinberg, Katherine H. Karlsgodt, Tyrone D. Cannon and Carrie E. Bearden

mTOR inhibitor improves autistic-like behaviors related to Tsc2 haploinsufficiency but not following developmental status epilepticus

Tuberous sclerosis complex (TSC), a multi-system genetic disorder often associated with autism spectrum disorder (ASD), is caused by mutations of TSC1 or TSC2, which lead to constitutive overactivation of mammali...

Authors: Tomas Petrasek, Iveta Vojtechova, Ondrej Klovrza, Klara Tuckova, Cestmir Vejmola, Jakub Rak, Anna Sulakova, Daniel Kaping, Nadine Bernhardt, Petrus J. de Vries, Jakub Otahal and Robert Waltereit

Spoken language outcome measures for treatment studies in Down syndrome: feasibility, practice effects, test-retest reliability, and construct validity of variables generated from expressive language sampling

The purpose of this study was to evaluate expressive language sampling (ELS) as a procedure for generating spoken language outcome measures for treatment research in Down syndrome (DS). We addressed (a) feasib...

Authors: Angela John Thurman, Jamie O. Edgin, Stephanie L. Sherman, Audra Sterling, Andrea McDuffie, Elizabeth Berry-Kravis, Debra Hamilton and Leonard Abbeduto

Modeling familial predictors of proband outcomes in neurogenetic disorders: initial application in XYY syndrome

Disorders of gene dosage can significantly increase risk for psychopathology, but outcomes vary greatly amongst carriers of any given chromosomal aneuploidy or sub-chromosomal copy number variation (CNV). One ...

Authors: Kathleen E. Wilson, Ari M. Fish, Catherine Mankiw, Anastasia Xenophontos, Allysa Warling, Ethan Whitman, Liv Clasen, Erin Torres, Jonathan Blumenthal and Armin Raznahan

Early behavioral and physiological markers of social anxiety in infants with fragile X syndrome

Social anxiety is highly prevalent in neurotypical children and children with fragile X syndrome (FXS). FXS is a genetic syndrome that is characterized by intellectual disability and an increased risk for auti...

Authors: Conner J. Black, Abigail L. Hogan, Kayla D. Smith and Jane E. Roberts

Shared developmental gait disruptions across two mouse models of neurodevelopmental disorders

Motor deficits such as abnormal gait are an underappreciated yet characteristic phenotype of many neurodevelopmental disorders (NDDs), including Williams Syndrome (WS) and Neurofibromatosis Type 1 (NF1). Compa...

Authors: Rachel M. Rahn, Claire T. Weichselbaum, David H. Gutmann, Joseph D. Dougherty and Susan E. Maloney

Intellectual abilities, language comprehension, speech, and motor function in children with spinal muscular atrophy type 1

Spinal muscular atrophy (SMA) is a chronic, neuromuscular disease characterized by degeneration of spinal cord motor neurons, resulting in progressive muscular atrophy and weakness. SMA1 is the most severe for...

Authors: Grazia Zappa, Antonella LoMauro, Giovanni Baranello, Emilia Cavallo, Priscilla Corti, Chiara Mastella and Maria Antonella Costantino

MEG-PLAN: a clinical and technical protocol for obtaining magnetoencephalography data in minimally verbal or nonverbal children who have autism spectrum disorder

Neuroimaging research on individuals who have autism spectrum disorder (ASD) has historically been limited primarily to those with age-appropriate cognitive and language performance. Children with limited abil...

Authors: Emily S. Kuschner, Mina Kim, Luke Bloy, Marissa Dipiero, J. Christopher Edgar and Timothy P. L. Roberts

Longitudinal change in restricted and repetitive behaviors from 8-36 months

Restricted and repetitive behaviors (RRBs) are core features of autism spectrum disorder (ASD) and one of the earliest behavioral signs of ASD. However, RRBs are also present in typically developing (TD) infan...

Authors: Robin Sifre, Daniel Berry, Jason J. Wolff and Jed T. Elison

Evidence for decreased parasympathetic response to a novel peer interaction in older children with autism spectrum disorder: a case-control study

Individuals with autism spectrum disorder (ASD) often experience elevated stress during social interactions and may have difficulty forming and maintaining peer relationships. The autonomic nervous system (ANS...

Authors: Rachael A. Muscatello, Simon N. Vandekar and Blythe A. Corbett

Associations between sensory processing and electrophysiological and neurochemical measures in children with ASD: an EEG-MRS study

Autism spectrum disorder (ASD) is associated with hyper- and/or hypo-sensitivity to sensory input. Spontaneous alpha power, which plays an important role in shaping responsivity to sensory information, is redu...

Authors: Sarah Pierce, Girija Kadlaskar, David A. Edmondson, Rebecca McNally Keehn, Ulrike Dydak and Brandon Keehn

Read my lips! Perception of speech in noise by preschool children with autism and the impact of watching the speaker’s face

Adults and adolescents with autism spectrum disorders show greater difficulties comprehending speech in the presence of noise. Moreover, while neurotypical adults use visual cues on the mouth to help them unde...

Authors: Rochelle S. Newman, Laura A. Kirby, Katie Von Holzen and Elizabeth Redcay

Development of an adapted Clinical Global Impression scale for use in Angelman syndrome

The Clinical Global Impression-Severity (CGI-S) and CGI-Improvement (CGI-I) scales are widely accepted tools that measure overall disease severity and change, synthesizing the clinician’s impression of the glo...

Authors: Alexander Kolevzon, Pamela Ventola, Christopher J. Keary, Gali Heimer, Jeffrey L. Neul, Mathews Adera and Judith Jaeger

Controlling litter effects to enhance rigor and reproducibility with rodent models of neurodevelopmental disorders

Research with rodents is crucial for expanding our understanding of genetic and environmental risk factors for neurodevelopmental disorders (NDD). However, there is growing concern about the number of animal s...

Authors: Jessica A. Jiménez and Mark J. Zylka

Behavioural and neural markers of tactile sensory processing in infants at elevated likelihood of autism spectrum disorder and/or attention deficit hyperactivity disorder

Atypicalities in tactile processing are reported in autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) but it remains unknown if they precede and associate with the traits of th...

Authors: Elena Serena Piccardi, Jannath Begum Ali, Emily J. H. Jones, Luke Mason, Tony Charman, Mark H. Johnson and Teodora Gliga

Medications for attention-deficit/hyperactivity disorder in individuals with or without coexisting autism spectrum disorder: analysis of data from the Swedish prescribed drug register

Clinical studies found that medication for attention-deficit/hyperactivity disorder (ADHD) is effective in coexisting autism spectrum disorder (ASD), but current research is based on small clinical studies mai...

Authors: Viktoria Johansson, Sven Sandin, Zheng Chang, Mark J. Taylor, Paul Lichtenstein, Brian M. D’Onofrio, Henrik Larsson, Clara Hellner and Linda Halldner

Investigating the impact of the environment on neurodevelopmental disorder

Authors: Heather Volk and Margaret A. Sheridan

Maternal immune response and air pollution exposure during pregnancy: insights from the Early Markers for Autism (EMA) study

Perinatal exposure to air pollution and immune system dysregulation are two factors consistently associated with autism spectrum disorders (ASD) and other neurodevelopmental outcomes. However, little is known ...

Authors: Heather E. Volk, Bo Park, Calliope Hollingue, Karen L. Jones, Paul Ashwood, Gayle C. Windham, Fred Lurman, Stacey E. Alexeeff, Martin Kharrazi, Michelle Pearl, Judy Van de Water and Lisa A. Croen

Developmental exposure to diesel exhaust upregulates transcription factor expression, decreases hippocampal neurogenesis, and alters cortical lamina organization: relevance to neurodevelopmental disorders

Exposure to traffic-related air pollution (TRAP) during development and/or in adulthood has been associated in many human studies with both neurodevelopmental and neurodegenerative diseases, such as autism spe...

Authors: Toby B. Cole, Yu-Chi Chang, Khoi Dao, Ray Daza, Robert Hevner and Lucio G. Costa

Translational outcomes relevant to neurodevelopmental disorders following early life exposure of rats to chlorpyrifos

Neurodevelopmental disorders (NDDs), including intellectual disability, attention deficit hyperactivity disorder (ADHD), and autism spectrum disorder (ASD), are pervasive, lifelong disorders for which pharmaco...

Authors: Elizabeth L. Berg, Tianna M. Ching, Donald A. Bruun, Josef K. Rivera, Milo Careaga, Jacob Ellegood, Jason P. Lerch, Markus Wöhr, Pamela J. Lein and Jill L. Silverman

Stunting and lead: using causal mediation analysis to better understand how environmental lead exposure affects cognitive outcomes in children

Many children in Bangladesh experience poor nutritional status and environmental lead exposure, both of which are associated with lower scores on neurodevelopmental assessments. Recent studies have suggested t...

Authors: Kelsey M. Gleason, Linda Valeri, Anuraj H. Shankar, John F. Obrycki, Md Omar Sharif Ibne Hasan, Golam Mostofa, Quazi Quamruzzaman, Robert O. Wright, David C. Christiani, David C. Bellinger and Maitreyi Mazumdar

Long-term spatial tracking of cells affected by environmental insults

Harsh environments surrounding fetuses and children can induce cellular damage in the developing brain, increasing the risk of intellectual disability and other neurodevelopmental disorders such as schizophren...

Authors: Shahid Mohammad, Stephen J. Page, Toru Sasaki, Nicholas Ayvazian, Pasko Rakic, Yuka Imamura Kawasawa, Kazue Hashimoto-Torii and Masaaki Torii

Epigenetics modifiers: potential hub for understanding and treating neurodevelopmental disorders from hypoxic injury

The fetal brain is adapted to the hypoxic conditions present during normal in utero development. Relatively more hypoxic states, either chronic or acute, are pathologic and can lead to significant long-term ne...

Authors: Ana G. Cristancho and Eric D. Marsh

Psychosocial deprivation and receptive language ability: a two-sample study

The quality of early caregiving experiences is a known contributor to the quality of the language experiences young children receive. What is unknown is whether, and if so, how psychosocial deprivation early i...

Authors: Kathryn L. Humphreys, Laura S. Machlin, Katherine L. Guyon-Harris, Charles A. Nelson, Nathan A. Fox and Charles H. Zeanah

Exploratory spatial analysis of autism rates in New York school districts: role of sociodemographic and language differences

Literature on autism spectrum disorder (ASD) suggests lower ASD prevalence and higher age of diagnosis among children of color, from lower socioeconomic backgrounds, and from families with lower educational level...

Authors: Kathleen McGrath, Karen Bonuck and Mana Mann

Early life stress and development: potential mechanisms for adverse outcomes

Chronic and/or extreme stress in early life, often referred to as early adversity, childhood trauma, or early life stress, has been associated with a wide range of adverse effects on development. However, whil...

Authors: Karen E. Smith and Seth D. Pollak

Risk of neurodevelopmental disorders in children born from different ART treatments: a systematic review and meta-analysis

Various techniques in assisted reproductive technology (ART) have been developed as solutions for specific infertility problems. It is important to gain consensual conclusions on the actual risks of neurodevel...

Authors: Tono Djuwantono, Jenifer Kiem Aviani, Wiryawan Permadi, Tri Hanggono Achmad and Danny Halim

Sleep characteristics and problems of 2-year-olds with Williams syndrome: relations with language and behavior

Sleep problems have been shown to have a negative impact on language development and behavior for both typically developing children and children with a range of neurodevelopmental disorders. The relation of s...

Authors: Caroline Greiner de Magalhães, Louise M. O’Brien and Carolyn B. Mervis

Telehealth-enabled behavioral treatment for problem behaviors in boys with fragile X syndrome: a randomized controlled trial

Children with fragile X syndrome (FXS) are at increased risk for exhibiting problem behaviors such as aggression and self-injury. However, many children with FXS have limited access to behavioral treatments th...

Authors: Scott S. Hall, Katerina D. Monlux, Arlette Bujanda Rodriguez, Booil Jo and Joy S. Pollard

Affective and psychotic reactivity to daily-life stress in adults with 22q11DS: a study using the experience sampling method

22q11.2 deletion syndrome (22q11DS) is a genetic disorder associated with an increased risk of psychiatric disorders. Vulnerability for psychopathology has been related to an increased reactivity to stress. He...

Authors: Maude Schneider, Thomas Vaessen, Esther D. A. van Duin, Zuzana Kasanova, Wolfgang Viechtbauer, Ulrich Reininghaus, Claudia Vingerhoets, Jan Booij, Ann Swillen, Jacob A. S. Vorstman, Thérèse van Amelsvoort and Inez Myin-Germeys

A small-molecule screen reveals novel modulators of MeCP2 and X-chromosome inactivation maintenance

Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked methyl-CpG binding protein 2 (MeCP2) gene. While MeCP2 mutations are lethal in most males, females survive birth but show s...

Authors: Hyeong-Min Lee, M. Bram Kuijer, Nerea Ruiz Blanes, Ellen P. Clark, Megumi Aita, Lorena Galiano Arjona, Agnieszka Kokot, Noah Sciaky, Jeremy M. Simon, Sanchita Bhatnagar, Benjamin D. Philpot and Andrea Cerase

Deficits in higher visual area representations in a mouse model of Angelman syndrome

Sensory processing deficits are common in individuals with neurodevelopmental disorders. One hypothesis is that deficits may be more detectable in downstream, “higher” sensory areas. A mouse model of Angelman ...

Authors: Leah B. Townsend, Kelly A. Jones, Christopher R. Dorsett, Benjamin D. Philpot and Spencer L. Smith

Deficits in skilled motor and auditory learning in a rat model of Rett syndrome

Rett syndrome is an X-linked neurodevelopmental disorder caused by a mutation in the gene MECP2. Individuals with Rett syndrome display developmental regression at an early age, and develop a range of motor, audi...

Authors: Katherine S. Adcock, Abigail E. Blount, Robert A. Morrison, Amanda Alvarez-Dieppa, Michael P. Kilgard, Crystal T. Engineer and Seth A. Hays

Protective role of mirtazapine in adult female Mecp2^+/− mice and patients with Rett syndrome

Rett syndrome (RTT), an X-linked neurodevelopmental rare disease mainly caused by MECP2-gene mutations, is a prototypic intellectual disability disorder. Reversibility of RTT-like phenotypes in an adult mouse mod...

Authors: Javier Flores Gutiérrez, Claudio De Felice, Giulia Natali, Silvia Leoncini, Cinzia Signorini, Joussef Hayek and Enrico Tongiorgi

Functional characterization of rare NRXN1 variants identified in autism spectrum disorders and schizophrenia

Rare genetic variants contribute to the etiology of both autism spectrum disorder (ASD) and schizophrenia (SCZ). Most genetic studies limit their focus to likely gene-disrupting mutations because they are rela...

Authors: Kanako Ishizuka, Tomoyuki Yoshida, Takeshi Kawabata, Ayako Imai, Hisashi Mori, Hiroki Kimura, Toshiya Inada, Yuko Okahisa, Jun Egawa, Masahide Usami, Itaru Kushima, Mako Morikawa, Takashi Okada, Masashi Ikeda, Aleksic Branko, Daisuke Mori…

Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project

Tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND) have unique, individual patterns that pose significant challenges for diagnosis, psycho-education, and intervention planning. A rec...

Authors: Petrus J. de Vries, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Lisa D’Amato, Guillaume Beure d’Augères, José C. Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, John A. Lawson, Alfons Macaya, Ruben Marques…

Obsessive-compulsive disorder and attention-deficit/hyperactivity disorder: distinct associations with DNA methylation and genetic variation

A growing body of research has demonstrated associations between specific neurodevelopmental disorders and variation in DNA methylation (DNAm), implicating this molecular mark as a possible contributor to the ...

Authors: Sarah J. Goodman, Christie L. Burton, Darci T. Butcher, Michelle T. Siu, Mathieu Lemire, Eric Chater-Diehl, Andrei L. Turinsky, Michael Brudno, Noam Soreni, David Rosenberg, Kate D. Fitzgerald, Gregory L. Hanna, Evdokia Anagnostou, Paul D. Arnold, Jennifer Crosbie, Russell Schachar…