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Co-occurring conditions in children with Down syndrome and autism: a retrospective study
Co-occurring conditions in children with Down syndrome and autism: a retrospective study
Down syndrome (DS) is one of the most common genetic causes of intellectual disability, and it is associated with an incre...
Comparison of evoked potentials across four related developmental encephalopathies
Comparison of evoked potentials across four related developmental encephalopathies
Developing biomarkers is a priority for drug development for all conditions, but vital in the rare neurodevelopmental diso...
Cortical and subcortical morphological alteration in Angelman syndrome
Cortical and subcortical morphological alteration in Angelman syndrome
Angelman syndrome (AS) is a neurodevelopmental disorder with serious seizures. We aim to explore the brain morphometry of ...
NRXN1 depletion in the medial prefrontal cortex induces anxiety-like behaviors and abnormal social phenotypes along with impaired neurite outgrowth in rat
NRXN1 depletion in the medial prefrontal cortex induces anxiety-like behaviors and abnormal social phenotypes along with impaired neurite outgrowth in rat
Neurodevelopmental disorders (NDDs) are a group of disorders induced by abnormal brain developmental processes. The prefro...
Self and caregiver report measurement of sensory features in autism spectrum disorder: a systematic review of psychometric properties
Self and caregiver report measurement of sensory features in autism spectrum disorder: a systematic review of psychometric properties
Unusual responses to sensory stimuli are considered a diagnostic symptom of autism spectrum disorder with mounting researc...
Comparing ability and norm-referenced scores as clinical trial outcomes for neurodevelopmental disabilities: a simulation study
Comparing ability and norm-referenced scores as clinical trial outcomes for neurodevelopmental disabilities: a simulation study
For genetic conditions associated with neurodevelopmental disorder (GCAND), developmental domains such as motor ability, t...
Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change
Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change
Individuals with PTEN hamartoma tumor syndrome (PHTS) demonstrate a distinct neurobehavioral profile suggesting primary di...
Computational approaches to address data challenges in intellectual and developmental disabilities research
Computational approaches to address data challenges in intellectual and developmental disabilities research
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, whic...
Role of the endocannabinoid system in fragile X syndrome: potential mechanisms for benefit from cannabidiol treatment
Role of the endocannabinoid system in fragile X syndrome: potential mechanisms for benefit from cannabidiol treatment
Multiple lines of evidence suggest a central role for the endocannabinoid system (ECS) in the neuronal development and cog...
Long-term follow-up of a randomized controlled trial of choline for neurodevelopment in fetal alcohol spectrum disorder: corpus callosum white matter microstructure and neurocognitive outcomes
Long-term follow-up of a randomized controlled trial of choline for neurodevelopment in fetal alcohol spectrum disorder: corpus callosum white matter microstructure and neurocognitive outcomes
Fetal alcohol spectrum disorder (FASD) is a lifelong condition. Early interventions targeting core neurocognitive deficits...
Social attention during object engagement: toward a cross-species measure of preferential social orienting
Social attention during object engagement: toward a cross-species measure of preferential social orienting
A central challenge in preclinical research investigating the biology of autism spectrum disorder (ASD) is the translation...
The feasibility and utility of hair follicle sampling to measure FMRP and FMR1 mRNA in children with or without fragile X syndrome: a pilot study
The feasibility and utility of hair follicle sampling to measure FMRP and FMR1 mRNA in children with or without fragile X syndrome: a pilot study
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability in males and the most common single...
A randomized, controlled trial of ZYN002 cannabidiol transdermal gel in children and adolescents with fragile X syndrome (CONNECT-FX)
A randomized, controlled trial of ZYN002 cannabidiol transdermal gel in children and adolescents with fragile X syndrome (CONNECT-FX)
Fragile X syndrome (FXS) is associated with dysregulated endocannabinoid signaling and may therefore respond to cannabidio...
Correction: EEG resting-state functional connectivity: evidence for an imbalance of external/internal information integration in autism
Correction: EEG resting-state functional connectivity: evidence for an imbalance of external/internal information integration in autism
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, whic...
Long-term follow-up of telehealth-enabled behavioral treatment for challenging behaviors in boys with fragile X syndrome
Long-term follow-up of telehealth-enabled behavioral treatment for challenging behaviors in boys with fragile X syndrome
A significant proportion of boys with fragile X syndrome (FXS), the most common known genetic cause of intellectual disabi...
Divergent presentation of anxiety in high-risk groups within the intellectual disability population
Divergent presentation of anxiety in high-risk groups within the intellectual disability population
Anxiety symptomatology is common in individuals with intellectual disability (ID). Symptomatology includes both traditiona...
Auditory processing in rodent models of autism: a systematic review
Auditory processing in rodent models of autism: a systematic review
Autism is a complex condition with many traits, including differences in auditory sensitivity. Studies in human autism are...
Focus on your locus with a massively parallel reporter assay
Focus on your locus with a massively parallel reporter assay
A growing number of variants associated with risk for neurodevelopmental disorders have been identified by genome-wide ass...
Default mode and fronto-parietal network associations with IQ development across childhood in autism
Default mode and fronto-parietal network associations with IQ development across childhood in autism
Intellectual disability affects approximately one third of individuals with autism spectrum disorder (autism). Yet, a majo...
Baclofen-associated neurophysiologic target engagement across species in fragile X syndrome
Baclofen-associated neurophysiologic target engagement across species in fragile X syndrome
Fragile X syndrome (FXS) is the most common inherited form of neurodevelopmental disability. It is often characterized, es...
EEG resting-state functional connectivity: evidence for an imbalance of external/internal information integration in autism
EEG resting-state functional connectivity: evidence for an imbalance of external/internal information integration in autism
Autism spectrum disorder (ASD) is associated with atypical neural activity in resting state. Most of the studies have focu...
Phenotypic characteristics and variability in CHARGE syndrome: a PRISMA compliant systematic review and meta-analysis
Phenotypic characteristics and variability in CHARGE syndrome: a PRISMA compliant systematic review and meta-analysis
CHARGE syndrome (OMIM #214800) is a phenotypically complex genetic condition characterised by multi-system, multi-sensory ...
Is the dolphin a fish? ERP evidence for the impact of typicality during early visual processing in ultra-rapid semantic categorization in autism spectrum disorder
Is the dolphin a fish? ERP evidence for the impact of typicality during early visual processing in ultra-rapid semantic categorization in autism spectrum disorder
Neurotypical individuals categorize items even during ultra-rapid presentations (20 ms; see Thorpe et al. Nature ...
A framework for characterizing heterogeneity in neurodevelopmental data using latent profile analysis in a sample of children with ADHD
A framework for characterizing heterogeneity in neurodevelopmental data using latent profile analysis in a sample of children with ADHD
Heterogeneity in neurodevelopmental disorders, and attention deficit hyperactivity disorder (ADHD) in particular, is incre...
Identifying and describing subtypes of spontaneous empathic facial expression production in autistic adults
Identifying and describing subtypes of spontaneous empathic facial expression production in autistic adults
It is unclear whether atypical patterns of facial expression production metrics in autism reflect the dynamic and nuanced ...
The impact of sex chromosome trisomies (XXX, XXY, XYY) on gaze towards faces and affect recognition: a cross-sectional eye tracking study
The impact of sex chromosome trisomies (XXX, XXY, XYY) on gaze towards faces and affect recognition: a cross-sectional eye tracking study
About 1:650–1000 children are born with an extra X or Y chromosome (47,XXX; 47,XXY; 47,XYY), which results in a sex ...
Steady-state visual evoked potentials in children with neurofibromatosis type 1: associations with behavioral rating scales and impact of psychostimulant medication
Steady-state visual evoked potentials in children with neurofibromatosis type 1: associations with behavioral rating scales and impact of psychostimulant medication
Neurofibromatosis type 1 (NF1) is a genetic disorder often associated with cognitive dysfunctions, including a high occurr...
Copy number variation at the 22q11.2 locus influences prevalence, severity, and psychiatric impact of sleep disturbance
Copy number variation at the 22q11.2 locus influences prevalence, severity, and psychiatric impact of sleep disturbance
Sleep disturbance is common, impairing, and may affect symptomatology in developmental neuropsychiatric disorders. Here, w...
Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications
Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications
SLC6A1-related disorder is a recently identified, rare, genetic neurodevelopmental disorder that is associated with loss-o...
Calculating genetic risk for dysfunction in pleiotropic biological processes using whole exome sequencing data
Calculating genetic risk for dysfunction in pleiotropic biological processes using whole exome sequencing data
Numerous genes are implicated in autism spectrum disorder (ASD). ASD encompasses a wide-range and severity of symptoms and...
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