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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 ...
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...
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...
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...
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 ...
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 ...
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...