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An exploratory fetal MRI study examining the impact of 22q11.2 microdeletion syndrome on early brain growth
An exploratory fetal MRI study examining the impact of 22q11.2 microdeletion syndrome on early brain growth
Improved long-term outcomes, related to advances in surgical and clinical care of infants with congenital heart disease (C...
The striatal matrix compartment is expanded in autism spectrum disorder
The striatal matrix compartment is expanded in autism spectrum disorder
Autism spectrum disorder (ASD) is the second-most common neurodevelopmental disorder in childhood. This complex developmen...
Atypical audio-visual neural synchrony and speech processing in early autism
Atypical audio-visual neural synchrony and speech processing in early autism
Children with Autism Spectrum disorder (ASD) often exhibit communication difficulties that may stem from basic auditory te...
DNA methylation biomarkers of intellectual/developmental disability across the lifespan
DNA methylation biomarkers of intellectual/developmental disability across the lifespan
Epigenetic mechanisms, including DNA methylation, act at the interface of genes and environment by allowing a static genom...
Differences in sleep EEG coherence and spindle metrics in toddlers with and without receptive/expressive language delay: a prospective observational study
Differences in sleep EEG coherence and spindle metrics in toddlers with and without receptive/expressive language delay: a prospective observational study
Changes in brain connectivity during development are thought to reflect organizational and maturational processes that cor...
Commonly used genomic arrays may lose information due to imperfect coverage of discovered variants for autism spectrum disorder
Commonly used genomic arrays may lose information due to imperfect coverage of discovered variants for autism spectrum disorder
Common genetic variation has been shown to account for a large proportion of ASD heritability. Polygenic scores generated ...
Association between rare, genetic variants linked to autism and ultrasonography fetal anomalies in children with autism spectrum disorder
Association between rare, genetic variants linked to autism and ultrasonography fetal anomalies in children with autism spectrum disorder
Recent evidence suggests that certain fetal anomalies detected upon prenatal ultrasound screenings are associated with aut...
Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome
Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome
Phelan-McDermid syndrome (PMS) is caused by monoallelic loss or inactivation at the SHANK3 gene, located in human chr 22q1...
Volumetric brain reductions in adult patients with phenylketonuria and their relationship with blood phenylalanine levels
Volumetric brain reductions in adult patients with phenylketonuria and their relationship with blood phenylalanine levels
Continued dietary treatment since early diagnosis through newborn screening programs usually prevents brain-related compli...
Computer-vision analysis of craniofacial dysmorphology in 22q11.2 deletion syndrome and psychosis spectrum disorders
Computer-vision analysis of craniofacial dysmorphology in 22q11.2 deletion syndrome and psychosis spectrum disorders
Minor physical anomalies (MPAs) are congenital morphological abnormalities linked to disruptions of fetal development. MPA...
Developmental change of brain volume in Rett syndrome in Taiwan
Developmental change of brain volume in Rett syndrome in Taiwan
Rett syndrome (RTT) is characterized by neurological regression. This pioneering study investigated the effect of age on b...
An integrated clinical approach to children at genetic risk for neurodevelopmental and psychiatric conditions: interdisciplinary collaboration and research infrastructure
An integrated clinical approach to children at genetic risk for neurodevelopmental and psychiatric conditions: interdisciplinary collaboration and research infrastructure
A sizeable proportion of pathogenic genetic variants identified in young children tested for congenital differences are as...
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...
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