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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...
The importance of deep speech phenotyping for neurodevelopmental and genetic disorders: a conceptual review
The importance of deep speech phenotyping for neurodevelopmental and genetic disorders: a conceptual review
Speech is the most common modality through which language is communicated, and delayed, disordered, or absent speech produ...
Clinical and behavioural features of SYNGAP1-related intellectual disability: a parent and caregiver description
Clinical and behavioural features of SYNGAP1-related intellectual disability: a parent and caregiver description
SYNGAP1-related intellectual disability (ID) is a recently described neurodevelopmental disorder that is caused by pathoge...
Evidence of neuroinflammation and immunotherapy responsiveness in individuals with down syndrome regression disorder
Evidence of neuroinflammation and immunotherapy responsiveness in individuals with down syndrome regression disorder
Down syndrome regression disorder is a symptom cluster consisting of neuropsychiatric regression without cause. This study...
Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study
Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study
Rett syndrome (RTT) is a neurodevelopmental disorder most often related to a pathogenic variant in the X-linked MECP2 gene...
Characterization of cell-cell communication in autistic brains with single-cell transcriptomes
Characterization of cell-cell communication in autistic brains with single-cell transcriptomes
Autism spectrum disorder is a neurodevelopmental disorder, affecting 1–2% of children. Studies have revealed genetic...
The diagnostic journey of genetically defined neurodevelopmental disorders
The diagnostic journey of genetically defined neurodevelopmental disorders
The development of advanced genetic technologies has resulted in rapid identification of genetic etiologies of neurodevelo...