A5027040139- Autism Spectrum Disorder Research
- Genetics and Neurodevelopmental Disorders
- Face Recognition and Perception
- Genomic variations and chromosomal abnormalities
- Epilepsy research and treatment
- Tuberous Sclerosis Complex Research
- Child and Animal Learning Development
- Pharmacological Effects and Toxicity Studies
- Family and Disability Support Research
- Metabolism and Genetic Disorders
- Tumors and Oncological Cases
- Genetic Syndromes and Imprinting
- Fetal and Pediatric Neurological Disorders
- Prenatal Screening and Diagnostics
- Attention Deficit Hyperactivity Disorder
- Memory and Neural Mechanisms
- Genomics and Rare Diseases
- Congenital heart defects research
- Multisensory perception and integration
- Polyomavirus and related diseases
- Spinal Dysraphism and Malformations
- Face recognition and analysis
- Hepatitis C virus research
- Cystic Fibrosis Research Advances
- Dental Health and Care Utilization
Enzo Life Sciences (United States)
2024
Dup15q Alliance
2019-2023
Highland Community College - Illinois
2017-2021
Harvard University
2012-2017
Boston Children's Hospital
2009-2017
Center for Neurosciences
2015
Yale University
2015
University of Cambridge
2015
San Diego State University
2015
Drexel University
2015
Infant face processing becomes more selective during the first year of life as a function varying experience with distinct categories defined by species, race, and age. Given that any individual belongs to many such (e.g. A young Caucasian man’s face) we asked how neural selectivity for one aspect facial appearance was affected category membership along another dimension variability. 6-month-old infants were shown upright inverted pictures either their own mother or stranger while...
To examine the ontogeny of emotional face processing, event‐related potentials (ERPs) were recorded from adults and 7‐month‐old infants while viewing pictures fearful, happy, neutral faces. Face‐sensitive ERPs at occipital–temporal scalp regions differentiated between fearful neutral/happy faces in both (N170 was larger for fear) (P400 fear). Behavioral measures showed no overt attentional bias toward adults, but infants, duration first fixation longer than happy Together, these results...
Significance This paper provides unique insights into mechanism-based therapeutics for Rett syndrome (RTT), a devastating neurodevelopmental disorder. clinical trial was based on pioneer preclinical work from the laboratory of M.S. Outcome measures include instruments, standardized behavioral measures, and biomarkers, latter being not only objective but also applicable to experimental studies. We believe this will have major impact understanding treatment RTT, as well other disorders.
Current research suggests that autism spectrum disorder (ASD) is characterized by asynchronous neural oscillations. However, it unclear whether changes in oscillations represent an index of the or are shared more broadly among both affected and unaffected family members. Additionally, remains how early these differences emerge development they remain constant change over time. In this study we examined developmental trajectories spectral power infants at high- low-risk for ASD. Spectral was...
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...
Adult-like attentional biases toward fearful faces can be observed in 7-month-old infants.It is possible, however, that infants merely allocate attention to simple features such as enlarged eyes.In the present study, (n = 15) were first shown individual emotional determine their visual scanning patterns of expressions.Second, an overlap task was used examine latency disengagement from centrally presented faces.In both tasks, stimuli fearful, happy, and neutral facial expressions, a face with...
We performed a longitudinal cohort study of infants with tuberous sclerosis complex (TSC), the overarching goal defining early clinical, behavioral, and biological markers autism spectrum disorder (ASD) in this high-risk population.Infants TSC typically developing controls were recruited as 3 months age followed longitudinally until 36 age. Data gathered at each time point included detailed seizure history, developmental testing using Mullen Scales Early Learning, social-communication...
The purpose of this study was to examine the relationship between language pathways and autism spectrum disorders (ASDs) in patients with tuberous sclerosis complex (TSC). An advanced diffusion-weighted magnetic resonance imaging (MRI) performed on 42 TSC age-matched controls. Using a validated automatic method, white matter were identified microstructural characteristics extracted, including fractional anisotropy (FA) mean diffusivity (MD). Among TSC, 12 had ASD (29%). After controlling for...
Among the many experimental findings that tend to distinguish those with and without autism spectrum disorder ( ASD ) are face processing deficits, reduced hemispheric specialization, atypical neurostructural functional connectivity. To investigate earliest manifestations of these features, we examined lateralization event‐related gamma‐band coherence faces during first year life in infants at high risk for HRA ; defined as having an older sibling who were compared low‐risk comparison LRC...
Abstract Duplication of 15q11.2‐q13.1 (dup15q syndrome) is one the most common copy number variations associated with autism spectrum disorders (ASD) and intellectual disability (ID). As many neurogenetic conditions, accurate behavioral assessment challenging due to level impairment heterogeneity across individuals. Large‐scale phenotyping studies are necessary inform future clinical trials in this similar ID syndromes. This study assessed developmental characteristics a large cohort...
Categorical perception, demonstrated as reduced discrimination of within‐category relative to between‐category differences in stimuli, has been found a variety perceptual domains adults. To examine the development categorical perception domain facial expression processing, we used behavioral and event‐related potential (ERP) methods assess (happy‐happy) (happy‐sad) expressions 7‐month‐old infants. Data from visual paired‐comparison test recordings attention‐sensitive ERPs showed no...
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...
Abstract Background Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder associated with multiple neurologic impairments. Previous studies have shown challenges to the quality of life individuals RTT and their caregivers. However, instruments applied quantify disease burden not adequately captured impact these impairments on affected families. Consequently, an international collaboration stakeholders aimed at evaluating Burden Illness (BOI) in was organized. Methods Based...
The medial temporal lobes (MTL) support declarative memory and mature structurally functionally during the postnatal years in humans. Although recent work has addressed development of early childhood, less is known about continued beyond this period time. purpose investigation was to explore MTL-dependent across middle childhood. Children (6 -10 old) adults completed two computerized tasks, place learning (PL) transitive inference (TI), that each examined relational memory, as well flexible...
There is a high incidence of autism in tuberous sclerosis complex. Given the evidence impaired face processing autism, authors sought to investigate electrophysiological markers children with The studied 19 complex under age 4, and 20 age-matched controls, using familiar–unfamiliar faces paradigm. Of children, 6 (32%) had autism. Children showed longer N290 latency than controls (276 ms vs 259 ms, P = .05) also failed show expected hemispheric differences processing. longest was seen (1) (2)...
To evaluate the impact of pediatric sleep disturbances and night-time seizure monitoring children with rare epilepsy syndromes on quality mental health caregivers. A cross-sectional study was conducted using caregiver entered data from Rare Epilepsy Network Patient Reported Outcomes Measurement Information System measures for fatigue, disturbance, sleep-related impairment, depression, anxiety, companionship, cognition. Logistic regression used to examine associations between risk factors...
Adults living with intellectual and developmental disability (IDD) epilepsy (IDD-E) face challenges in addition to those faced by the general population of adults epilepsy, which may be associated distinct priorities for improving health-related quality life (HR-QOL). This study sought (1) conduct a survey HR-QOL identified IDD-E caregivers, (2) perform an exploratory cross-sectional comparison who do not have IDD.