64 results match your criteria: "Center for Autism and Neurodevelopment[Affiliation]"

Roles of ANK2/ankyrin-B in neurodevelopmental disorders: Isoform functions and implications for autism spectrum disorder and epilepsy.

Curr Opin Neurobiol

December 2024

Department of Neuroscience, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA; Department of Psychiatry and Behavioral Sciences, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA; Northwestern University, Center for Autism and Neurodevelopment, Chicago, IL, 60611, USA.

Article Synopsis
  • The ANK2 gene, linked to neurodevelopmental disorders (NDDs), shows a strong connection to autism spectrum disorder through rare variants identified in genetic studies.
  • Recent research has investigated the role of ankyrin-B isoforms on neuron functions using various methods like electrophysiology and animal behavior analysis.
  • Understanding ANK2 variants and their effects may uncover the molecular mechanisms behind NDDs, potentially leading to new treatment options in the future.
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The current article describes the Remote Infant Studies of Early Learning, a battery intended to provide robust looking time measures of cognitive development that can be administered remotely to inform our understanding of individual developmental trajectories in typical and atypical populations, particularly infant siblings of autistic children. This battery was developed to inform our understanding of early cognitive and language development in infants who will later receive a diagnosis of autism. Using tasks that have been successfully implemented in lab-based paradigms, we included assessments of attention, memory, prediction, word recognition, numeracy, multimodal processing, and social evaluation.

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Association between rare, genetic variants linked to autism and ultrasonography fetal anomalies in children with autism spectrum disorder.

J Neurodev Disord

September 2024

Department of Epidemiology, Biostatistics and Community Health Sciences, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

Article Synopsis
  • Recent research indicates a potential link between certain fetal anomalies identified during prenatal ultrasounds and the occurrence of autism spectrum disorder (ASD) in children.
  • The study analyzed data from 126 children with ASD, finding that 34.1% had prenatal ultrasound anomalies, with specific genetic variants (like loss-of-function mutations) being more prevalent among these children.
  • The findings suggest that rare genetic mutations associated with these ultrasound anomalies may play a role in ASD susceptibility, indicating a significant correlation between genetic risk factors and fetal development issues.
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Face processing is a central component of human communication and social engagement. The present investigation introduces a set of racially and ethnically inclusive faces created for researchers interested in perceptual and socio-cognitive processes linked to human faces. The Diverse Face Images (DFI) stimulus set includes high-quality still images of female faces that are racially and ethnically representative, include multiple images of direct and indirect gaze for each model and control for low-level perceptual variance between images.

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Objectives: Individuals with neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD), often experience a higher prevalence of gastrointestinal (GI) symptoms but have complex medical and behavioral comorbidities that make diagnosis and treatment difficult. A multi-stakeholder conference was convened to (a) determine patient and family experiences related to GI symptoms in NDDs, (b) review the clinicians' and researchers' perspectives, and (c) determine actionable steps for future research.

Methods: The Consortium for Autism, Neurodevelopmental Disorders and Digestive Diseases (CANDID; www.

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Article Synopsis
  • Almost all autistic youths have special interests (SIs), and new research indicates that these interests may differ between genders, although existing measures might not fully capture these differences.
  • Identifying these gender differences is crucial, as autistic girls' SIs can be overlooked due to their more socially oriented nature compared to boys, who often have interests in more "typically male" areas.
  • A study involving 1,921 caregivers reveals both similarities and specific gender differences in SIs, highlighting the importance of understanding these distinctions to better support autistic youth and their families.
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Breastfeeding patterns in infants are associated with a later diagnosis of autism Spectrum disorder.

Autism Res

August 2024

Department of Epidemiology, Biostatistics and Community Health Sciences, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

Breastfeeding is associated with medical and developmental benefits. This study aimed to assess associations between nutritional patterns in the first year of life and the likelihood of autism spectrum disorder (ASD). 270 children diagnosed with ASD (cases) and 500 neurotypical children (controls) matched to cases by sex, ethnicity, and birth date (± 3 months) were included in this retrospective case-control study.

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Nearly all autistic youth have special interests (SIs), which are associated with many benefits and challenges. Most research on SIs has focused on the subject matter of SIs, with less focus on understanding how youth engage in their SIs. We conducted a qualitative study using inductive content analysis (ICA) to examine: (1) The modalities youth use to engage in their SIs, (2) the degree to which such modalities are described by caregivers as adaptive or maladaptive, and (3) the extent to which the SIs themselves are described by caregivers positively or negatively.

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This preliminary study sought to assess biomarkers of attention using electroencephalography (EEG) and eye tracking in two ultra-rare monogenic populations associated with autism spectrum disorder (ASD). Relative to idiopathic ASD (n = 12) and neurotypical comparison (n = 49) groups, divergent attention profiles were observed for the monogenic groups, such that individuals with DYRK1A (n = 9) exhibited diminished auditory attention condition differences during an oddball EEG paradigm whereas individuals with SCN2A (n = 5) exhibited diminished visual attention condition differences noted by eye gaze tracking when viewing social interactions. Findings provide initial support for alignment of auditory and visual attention markers in idiopathic ASD and neurotypical development but not monogenic groups.

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Psychiatric polygenic risk scores: Experience, hope for utility, and concerns among child and adolescent psychiatrists.

Psychiatry Res

September 2024

Center for Bioethics, Harvard Medical School, Boston, MA 02115, United States; Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts, United States. Electronic address:

Article Synopsis
  • * A study involving interviews with 29 child and adolescent psychiatrists revealed that most believe PRS currently have limited clinical usefulness and are not ready for implementation, despite some clinician interest driven by family requests.
  • * Concerns were raised by psychiatrists about the challenges of using PRS, including potential misinterpretation, misuse by third parties, and the risk of increased stigma or even eugenics-related issues, underscoring the need for careful consideration in the adoption of this technology.
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Corrigendum: Understanding profound autism: implications for stigma and supports.

Front Psychiatry

June 2024

Department of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles, Los Angeles, CA, United States.

[This corrects the article DOI: 10.3389/fpsyt.2024.

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This concise review summarizes the literature on noncontingent reinforcement in the treatment of pediatric feeding disorder from 2018 to 2022. We reviewed 15 published behavior-analytic feeding studies to identify how often the term noncontingent reinforcement is used, what form of noncontingent reinforcement is delivered, and what the effects of noncontingent reinforcement are on behavior when it is included in treatment. Implications and directions for future research are discussed.

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Understanding profound autism: implications for stigma and supports.

Front Psychiatry

January 2024

Department of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles, Los Angeles, CA, United States.

Introduction: Societal perceptions and lack of understanding of autism spectrum disorder can be stigmatizing for autistic individuals and their families. This may be particularly the case for individuals who meet criteria for profound autism. Despite the considerable service needs of this marginalized group, there is little data on the prevalence of profound autism, nor on the experiences of those with profound autism and their families.

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Importance: Use of the Modified Checklist for Autism in Toddlers, Revised With Follow-Up, a 2-stage parent-report autism risk screening tool, has been questioned due to reports of poor sensitivity and specificity. How this measure captures developmental delays for very preterm infants may provide support for continued use in pediatric care settings.

Objective: To determine whether autism risk screening with the 2-stage parent-report autism risk screening tool at age 2 years is associated with behavioral and developmental outcomes at age 3 in very preterm infants.

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Memory difficulties have been identified in youth with neurodevelopmental conditions including autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD). The Child and Adolescent Memory Profile (ChAMP) is a newer memory measure with a burgeoning research base. This study seeks to explore memory performance on the Lists and Objects subtests of the ChAMP in a clinical sample of those with ASD with/without co-occurring ADHD.

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Autism spectrum disorder (ASD), a neurodevelopmental disorder typified by differences in social communication as well as restricted and repetitive behaviors, is often responsive to early behavioral intervention. However, there is limited information on whether such intervention can be augmented with pharmacological approaches. We conducted a double-blinded, placebo-controlled feasibility trial to examine the effects of the β-adrenergic antagonist propranolol combined with early intensive behavioral intervention (EIBI) for children with ASD.

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Remotely supervised at-home delivery of taVNS for autism spectrum disorder: feasibility and initial efficacy.

Front Psychiatry

September 2023

Department of Radiology, Neurology, and Psychological Sciences, and the Thompson Center for Autism and Neurodevelopment, University of Missouri-Columbia, Columbia, MO, United States.

Background: Transcutaneous auricular vagus nerve stimulation (taVNS) has potential clinical application for autism spectrum disorder (ASD). At-home sessions are necessary to allow delivery of repeated sessions, and remove burden on patients for daily visits, and reduce costs of clinic delivery. Our objective was to validate a protocol for remote supervised administration for home delivery of taVNS using specially designed equipment and platform.

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The mechanistic tie between genome-wide association study (GWAS)-implicated risk variants and disease-relevant cellular phenotypes remains largely unknown. Here, using human induced pluripotent stem cell (hiPSC)-derived neurons as a neurodevelopmental model, we identify multiple schizophrenia (SZ) risk variants that display allele-specific open chromatin (ASoC) and are likely to be functional. Editing the strongest ASoC SNP, rs2027349, near () alters the expression of , lncRNA , and a distal gene, Notably, the transcriptomic changes in neurons are associated with SZ and other neuropsychiatric disorders.

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Mechanisms of copy number variants in neuropsychiatric disorders: From genes to therapeutics.

Curr Opin Neurobiol

October 2023

Department of Neuroscience, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA; Center for Autism and Neurodevelopment, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA. Electronic address:

Copy number variants (CNVs) are genomic imbalances strongly linked to the aetiology of neuropsychiatric disorders such as schizophrenia and autism. By virtue of their large size, CNVs often contain many genes, providing a multi-genic view of disease processes that can be dissected in model systems. Thus, CNV research provides an important stepping stone towards understanding polygenic disease mechanisms, positioned between monogenic and polygenic risk models.

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Individuals with specific language impairment (SLI) struggle with language acquisition despite average non-verbal intelligence and otherwise typical development. One SLI account focuses on grammar acquisition delay. The current study aimed to detect novel rare genetic variants associated with performance on a grammar assessment, the Test of Early Grammatical Impairment (TEGI), in English-speaking children.

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Introduction: The implications of folate deficiency in neuropsychiatric disorders were demonstrated in numerous studies. Genetic deficiency in a key folate metabolism enzyme, MTHFR, is an example of the interaction between genetic and environmental risk factors: the maternal MTHFR deficiency governs nutrient availability, and the embryo's genotype influences its ability to metabolize folates. Here, we explore how the maternal and offspring genotypes affect cortical interneuron densities and distributions, mouse social outcome, and the relation of the different interneuron patterns to cortical excitability.

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Early developmental deletion of forebrain Ank2 causes seizure-related phenotypes by reshaping the synaptic proteome.

Cell Rep

July 2023

Department of Neuroscience, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA; Department of Psychiatry and Behavioral Sciences, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA; Northwestern University, Center for Autism and Neurodevelopment, Chicago, IL 60611, USA. Electronic address:

Rare genetic variants in ANK2, which encodes ankyrin-B, are associated with neurodevelopmental disorders (NDDs); however, their pathogenesis is poorly understood. We find that mice with prenatal deletion in cortical excitatory neurons and oligodendrocytes (Ank2:Emx1-Cre), but not with adolescent deletion in forebrain excitatory neurons (Ank2:CaMKIIα-Cre), display severe spontaneous seizures, increased mortality, hyperactivity, and social deficits. Calcium imaging of cortical slices from Ank2:Emx1-Cre mice shows increased neuronal calcium event amplitude and frequency, along with network hyperexcitability and hypersynchrony.

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Neurobehavioral and Medical Correlates of Autism Screening: 2-Year Outcomes for Infants Born Very Preterm.

J Pediatr

September 2023

Department of Pediatrics, Women and Infants Hospital, Providence, RI; Department of Pediatrics, Brown Alpert Medical School, Providence, RI; Department of Psychiatry and Human Behavior, Alpert Medical School of Brown University, Providence, RI.

Objective: To identify neonatal characteristics and 2-year neurodevelopmental outcomes associated with positive screening for risk of autism.

Study Design: Nine university-affiliated neonatal intensive care units (NICUs) enrolled infants born at <30 weeks of gestation. Infants underwent the NICU Network Neurobehavioral Scale examination before discharge and the Bayley Scales of Infant and Toddler Development, Third Edition, the Child Behavior Checklist, and the Modified Checklist for Autism in Toddlers, revised with follow-up (M-CHAT-R/F) at 2 years of corrected age.

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Article Synopsis
  • Environmental and genetic factors play a role in autism spectrum disorder (ASD), with particular emphasis on maternal stress during pregnancy and its potential impact on the likelihood of having a child with ASD.
  • An exploratory study assessed the relationship between maternal antibodies, prenatal stress levels, and ASD diagnosis in children by analyzing blood samples from 53 mothers with at least one child with ASD.
  • Findings showed no significant correlation between maternal stress and antibody presence, suggesting that although both factors are linked to ASD, they may operate independently rather than through a shared mechanism, warranting further investigation with a larger sample size.
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