A5068689431- Autism Spectrum Disorder Research
- Genetics and Neurodevelopmental Disorders
- Retinal Development and Disorders
- Neuroscience and Neuropharmacology Research
- Congenital heart defects research
- Neurogenesis and neuroplasticity mechanisms
- Neural dynamics and brain function
- RNA regulation and disease
- Family and Disability Support Research
- Advanced battery technologies research
- Genomic variations and chromosomal abnormalities
Boston Children's Hospital
2009-2020
Harvard University
2009-2020
Imaging Center
2017
Abstract One unifying explanation for the complexity of Autism Spectrum Disorders (ASD) may lie in disruption excitatory/inhibitory (E/I) circuit balance during critical periods development. We examined whether Parvalbumin (PV)-positive inhibitory neurons, which normally drive experience-dependent refinement (Hensch Nat Rev Neurosci 6:877–888, 1), are disrupted across heterogeneous ASD mouse models. performed a meta-analysis PV expression previously published models and analyzed two...
Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutation of the X-linked MECP2 gene and characterized developmental regression during first few years life. The objective this study was to investigate if visual evoked potential (VEP) could be used as an unbiased, quantitative biomarker monitor brain function in RTT.We recorded pattern-reversal VEPs Mecp2 heterozygous female mice 34 girls with RTT. amplitudes latencies VEP waveform components were quantified, related disease...
Visual circuits mature and are refined by sensory experience. However, significant gaps remain in our understanding how deprivation influences the development of visual acuity mice. Here, we perform a longitudinal study assessing effects chronic on mouse subcortical cortical using combination behavioral optomotor testing, vivo evoked responses (VEP) single-unit recordings. As previously reported, orientation tuning was degraded onset ocular dominance plasticity delayed remained open...
Neurodevelopmental spectrum disorders like autism (ASD) are diagnosed, on average, beyond age 4 y, after multiple critical periods of brain development close and behavioral intervention becomes less effective. This raises the urgent need for quantitative, noninvasive, translational biomarkers their early detection tracking. We found that both idiopathic (BTBR) genetic (CDKL5- MeCP2-deficient) mouse models ASD display an early, impaired cholinergic neuromodulation as reflected in altered...
Rett syndrome is a neurodevelopmental disorder caused by mutation in the X-linked MECP2 gene. Individuals with typically develop normally until around 18 months of age before undergoing developmental regression, and can lead to cognitive, motor, sensory, autonomic dysfunction. Understanding mechanism regression represents unique challenge when viewed through neuroscience lens. Are circuits that were previously established erased, are new ones built supplant old ones? One way examine...
Duplication and deletion of the chromosomal region 16p11.2 cause a broad range impairments, including intellectual disability, language disorders, sensory symptoms. However, it is unclear how changes in dosage affect cortical circuitry during development. The aim this study was to investigate whether visual evoked potential (VEP) could be used as noninvasive quantitative measure processing children with copy number variation. Pattern-reversal VEPs were successfully recorded 19 carriers, 9...
Rett Syndrome (RTT) is characterized by severe impairment in fine motor (FM) and expressive language (EL) function, making accurate evaluations of development difficult with standardized assessm ents. In this study, the administration scoring Mullen Scales Early Learning (MSEL) were adapted to eliminate confounding effects FM EL impairments assessing development. Forty-seven girls RTT assessed Adapted-MSEL (MSEL-A), a subset (n = 30) was also using Vineland Adaptive Behavior Scales-Second...
To compare EEG spectral power in girls with Rett syndrome (RTT) and typically developing (TD) analyze the context of clinical characteristics RTT to determine if could be used as a marker cortical function RTT.