SCI Abstract

search
+
Diffusivity alterations related to cognitive performance and phenylalanine levels in early-treated adults with phenylketonuria
Diffusivity alterations related to cognitive performance and phenylalanine levels in early-treated adults with phenylketonuria
Altered white matter (WM) is consistently reported in patients with phenylketonuria (PKU). However, the knowledge about WM...
Charting the future: current and future directions in translational research for individuals with Down syndrome
Charting the future: current and future directions in translational research for individuals with Down syndrome
The most common genetic cause of intellectual and developmental disability is trisomy of human chromosome 21 (trisomy 21) ...
Identifying compound heterozygous variants in the EEFSEC gene linked to progressive cerebellar atrophy
Identifying compound heterozygous variants in the EEFSEC gene linked to progressive cerebellar atrophy
Selenium, an essential micronutrient integrated into selenoproteins as selenocysteine, is fundamental to human health. The...
Brain functional connectivity correlates of autism diagnosis and familial liability in 24-month-olds
Brain functional connectivity correlates of autism diagnosis and familial liability in 24-month-olds
fcMRI correlates of autism spectrum disorder (ASD) diagnosis and familial liability were studied in 24-month-olds at high ...
Elevated autistic traits and social anxiety, and reduced empathy in adult women with triple X syndrome
Elevated autistic traits and social anxiety, and reduced empathy in adult women with triple X syndrome
Triple X syndrome (TXS, 47,XXX) is a sex chromosome aneuploidy affecting females. The condition is associated with cogniti...
Assessing receptive verb knowledge in late talkers and autistic children: advances and cautionary tales
Assessing receptive verb knowledge in late talkers and autistic children: advances and cautionary tales
Using eye-tracking, we assessed the receptive verb vocabularies of age-matched late talkers and typically developing child...
Degraded inferior colliculus responses to complex sounds in prenatally exposed VPA rats
Degraded inferior colliculus responses to complex sounds in prenatally exposed VPA rats
Individuals with autism spectrum disorders (ASD) often exhibit altered sensory processing and deficits in language develop...
White matter microstructure of children with sensory over-responsivity is associated with affective behavior
White matter microstructure of children with sensory over-responsivity is associated with affective behavior
Sensory processing dysfunction (SPD) is linked to altered white matter (WM) microstructure in school-age children. Sensory...
Assessing the integrity of auditory sensory memory processing in CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): an auditory evoked potential study of the duration-evoked mismatch negativity (MMN)
Assessing the integrity of auditory sensory memory processing in CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): an auditory evoked potential study of the duration-evoked mismatch negativity (MMN)
We interrogated auditory sensory memory capabilities in individuals with CLN3 disease (juvenile neuronal ceroid lipofuscin...
The association between cardiovascular health and cognition in adults with Down syndrome
The association between cardiovascular health and cognition in adults with Down syndrome
Evidence in the general population suggests that predictors of cardiovascular health such as moderate to vigorous physical...
The use of eye-tracking technology as a tool to evaluate social cognition in people with an intellectual disability: a systematic review and meta-analysis
The use of eye-tracking technology as a tool to evaluate social cognition in people with an intellectual disability: a systematic review and meta-analysis
Relatively little is known about social cognition in people with intellectual disability (ID), and how this may support un...
Endophenotype trait domains for advancing gene discovery in autism spectrum disorder
Endophenotype trait domains for advancing gene discovery in autism spectrum disorder
Autism spectrum disorder (ASD) is associated with a diverse range of etiological processes, including both genetic and non...
Neural oscillatory activity and connectivity in children who stutter during a non-speech motor task
Neural oscillatory activity and connectivity in children who stutter during a non-speech motor task
Neural motor control rests on the dynamic interaction of cortical and subcortical regions, which is reflected in the modul...
Autism through midlife: trajectories of symptoms, behavioral functioning, and health
Autism through midlife: trajectories of symptoms, behavioral functioning, and health
This study describes change in autism symptoms, behavioral functioning, and health measured prospectively over 22&nbsp...
Age of diagnosis for children with chromosome 15q syndromes
Age of diagnosis for children with chromosome 15q syndromes
The objective of this study was to identify the age of diagnosis for children with one of three neurogenetic conditions re...
Correction: The diagnostic journey of genetically defined neurodevelopmental disorders
Correction: The diagnostic journey of genetically defined neurodevelopmental disorders
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, whi...
A mouse model of ATRX deficiency with cognitive deficits and autistic traits
A mouse model of ATRX deficiency with cognitive deficits and autistic traits
ATRX is an ATP-dependent chromatin remodeling protein with essential roles in safeguarding genome integrity and modulating...
Hypovitaminosis D in persons with Down syndrome and autism spectrum disorder
Hypovitaminosis D in persons with Down syndrome and autism spectrum disorder
Plasma levels of vitamin D have been reported to be low in persons with Down syndrome (DS) and existing data is limited to...
The microstructural change of the brain and its clinical severity association in pediatric Tourette syndrome patients
The microstructural change of the brain and its clinical severity association in pediatric Tourette syndrome patients
Gilles de la Tourette syndrome (GTS) is a prevalent pediatric neurological disorder. Most studies point to abnormalities i...
Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study
Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study
Recent advances in the understanding of neurodevelopmental disorders such as Rett syndrome (RTT) have enabled the discover...
International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)
International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)
Tuberous sclerosis complex (TSC) is associated with a wide range of physical manifestations for which international clinic...
Correction: Pleiotropy between language impairment and broader behavioral disorders—an investigation of both common and rare genetic variants
Correction: Pleiotropy between language impairment and broader behavioral disorders—an investigation of both common and rare genetic variants
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, whi...
Neurogenetic mechanisms of risk for ADHD: Examining associations of polygenic scores and brain volumes in a population cohort
Neurogenetic mechanisms of risk for ADHD: Examining associations of polygenic scores and brain volumes in a population cohort
ADHD polygenic scores (PGSs) have been previously shown to predict ADHD outcomes in several studies. However, ADHD PGSs ar...
Dorsal visual stream and LIMK1: hemideletion, haplotype, and enduring effects in children with Williams syndrome
Dorsal visual stream and LIMK1: hemideletion, haplotype, and enduring effects in children with Williams syndrome
Williams syndrome (WS), a rare neurodevelopmental disorder caused by hemizygous deletion of ~ 25 genes from ch...
Why are only some children with autism spectrum disorder misclassified by the social communication questionnaire? An empirical investigation of individual differences in sensitivity and specificity in a clinic-referred sample
Why are only some children with autism spectrum disorder misclassified by the social communication questionnaire? An empirical investigation of individual differences in sensitivity and specificity in a clinic-referred sample
The Social Communication Questionnaire (SCQ) is a checklist for autism spectrum disorder (ASD) commonly used in research a...
Intelligence, motoric and psychological outcomes in children from different ART treatments: a systematic review and meta-analysis
Intelligence, motoric and psychological outcomes in children from different ART treatments: a systematic review and meta-analysis
Subtle abnormalities in children’s intelligence, motor skills, and psychology from various assisted reproductive tre...
Properties of white matter tract diffusivity in children with developmental dyslexia and comorbid attention deficit/hyperactivity disorder
Properties of white matter tract diffusivity in children with developmental dyslexia and comorbid attention deficit/hyperactivity disorder
Developmental dyslexia (DD) and attention deficit/hyperactivity disorder (ADHD) are highly comorbid neurodevelopmental dis...
Clinical characteristics and long-term neurodevelopmental outcomes of leukomalacia in preterm infants and term infants: a cohort study
Clinical characteristics and long-term neurodevelopmental outcomes of leukomalacia in preterm infants and term infants: a cohort study
Leukomalacia is a serious form of neonatal brain injury that often leads to neurodevelopmental impairment, and studies on ...
Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS)
Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS)
Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by the absence of a functional UBE3A gene, whic...
Developmental delays in cortical auditory temporal processing in a mouse model of Fragile X syndrome
Developmental delays in cortical auditory temporal processing in a mouse model of Fragile X syndrome
Autism spectrum disorders (ASD) encompass a wide array of debilitating symptoms, including sensory dysfunction and delayed...
Load More
format_indent_increase