Explanipedia

Characterizing developmental and behavioral profiles in developmental synaptopathies to inform clinical trial endpoints Open

Latha Soorya, Camille W. Brune, Cristan Farmer, Edith V. Ocampo, Natalie I. Berger , et al. · 2025

Background: The Developmental Synaptopathies Consortium is a multi-site natural history network studying rare, neurogenetic syndromes associated with synaptic dysfunction and developmental delays. One aim of the Consortium is clinical tria…

P205: Investigating sex differences in the behavioral phenotypes of Phelan-McDermid syndrome, tuberous sclerosis complex, and PTEN hamartoma tumor syndrome Open

Kate Friedman, Tess Levy, Paige M. Siper, Martina Bebin, Elizabeth Berry‐Kravis , et al. · 2025

56. Longitudinal Neurodevelopmental Outcomes In Patients Undergoing Surgical Correction Of Nonsyndromic Craniosynostosis In A Single Center: A Prospective Study Open

Emily Cao, Chioma G. Obinero, Christopher J. Goodenough, Deborah A. Pearson, Matthew R. Greives , et al. · 2024

Parental Stress in Tuberous Sclerosis Complex Open

Jenny Do, S. Shahrukh Hashmi, Hope Northrup, Laura S. Farach, Deborah A. Pearson , et al. · 2024

Pancreatic Replacement Therapy for Maladaptive Behaviors in Preschool Children With Autism Spectrum Disorder Open

Deborah A. Pearson, Robert L. Hendren, Matthew F. Heil, William R. McIntyre, Shane Raines · 2023

Importance There is an urgent unmet need for a treatment addressing the core symptoms and associated maladaptive symptoms of autism spectrum disorder (ASD), especially in preschool populations. Objectives To evaluate whether treatment of c…

Profile of Autism Spectrum Disorder in Tuberous Sclerosis Complex: Results from a Longitudinal, Prospective, Multisite Study Open

Jamie K. Capal, Marian E. Williams, Deborah A. Pearson, R. David Kissinger, Paul S. Horn , et al. · 2021

Objective Tuberous sclerosis complex (TSC) is highly associated with autism spectrum disorder (ASD). Objectives of the study were to characterize autistic features in young children with TSC. Methods Participants included 138 children foll…

ADHD severity as a predictor of cognitive task performance in children with Autism Spectrum Disorder (ASD) Open

Rosleen Mansour, Anthony R. Ward, David M. Lane, Katherine A. Loveland, Michael G. Aman , et al. · 2021

Executive Function in Autism: Association with ADHD and ASD Symptoms Open

Rachel R. Lee, Anthony R. Ward, David M. Lane, Michael G. Aman, Katherine A. Loveland , et al. · 2021

Epilepsy Risk Prediction Model for Patients With Tuberous Sclerosis Complex Open

Laura S. Farach, Melissa A. Richard, Philip J. Lupo, Mustafa Şahin, Darcy A. Krueger , et al. · 2020

Effects of Extended-Release Methylphenidate Treatment on Cognitive Task Performance in Children with Autism Spectrum Disorder and Attention-Deficit/Hyperactivity Disorder Open

Deborah A. Pearson, Cynthia W. Santos, Michael G. Aman, L. Eugene Arnold, David M. Lane , et al. · 2020

Objective: To examine the effectiveness of four doses of psychostimulant medication, combining extended-release methylphenidate (ER-MPH) in the morning with immediate-release MPH (IR-MPH) in the afternoon, on cognitive task p…

Two different genetic etiologies for tuberous sclerosis complex (TSC) in a single family Open

Kate Mowrey, Mary Kay Koenig, C. Ákos Szabó, Joshua Samuels, Shannon Mulligan , et al. · 2020

Background Tuberous sclerosis complex (TSC) is an autosomal dominant genetic condition that involves abnormalities of the skin, hamartomas in the heart, brain, and kidneys, seizures, as well as TSC‐associated neuropsychiatric disorders (TA…

Pilot Study of Neurodevelopmental Impact of Early Epilepsy Surgery in Tuberous Sclerosis Complex Open

Leslie E. Grayson, Jurriaan M. Peters, Tarrant McPherson, Darcy A. Krueger, Mustafa Şahin , et al. · 2020

Language predictors of autism spectrum disorder in young children with tuberous sclerosis complex Open

Alexandra Schoenberger, Jamie K. Capal, Annie Ondracek, Paul S. Horn, Donna S. Murray , et al. · 2019

Scalp EEG spikes predict impending epilepsy in TSC infants: A longitudinal observational study Open

Joyce Y. Wu, Monisha Goyal, Jurriaan M. Peters, Darcy A. Krueger, Mustafa Şahin , et al. · 2019

Objective To determine if routine electroencephalography (EEG) in seizure‐naive infants with tuberous sclerosis complex (TSC) can predict epilepsy and subsequent neurocognitive outcomes. Methods Forty infants 7 months of age or younger and…

Impacting development in infants with tuberous sclerosis complex: Multidisciplinary research collaboration. Open

Marian E. Williams, Deborah A. Pearson, Jamie K. Capal, Anna W. Byars, Donna S. Murray , et al. · 2019

The Tuberous Sclerosis Complex Autism Center of Excellence Network (TACERN) is a 6-site collaborative conducting longitudinal research on infants with tuberous sclerosis complex (TSC), focused on identifying early biomarkers for autism spe…

Tuberous Sclerosis Complex Genotypes and Developmental Phenotype Open

Laura S. Farach, Deborah A. Pearson, John P. Woodhouse, Jeremy M. Schraw, Mustafa Şahin , et al. · 2019

Community resilience to seismic events : a case study of Haida Gwaii, Canada Open

Deborah A. Pearson · 2019

Small, remote communities situated along the Pacific Northwest coast of British Columbia are vulnerable to seismic events including earthquakes, and near- and far-field tsunamis. These have the potential to affect community sustainability.…

High vigabatrin dosage is associated with lower risk of infantile spasms relapse among children with tuberous sclerosis complex Open

Shaun A. Hussain, E. Schmid, Jurriaan M. Peters, Monisha Goyal, E. Martina Bebin , et al. · 2018

After initially successful treatment of infantile spasms, the long-term cumulative risk of relapse approaches 50%, and there is no established protocol to mitigate this risk. Although vigabatrin may be an effective means to prevent relapse…

A clinical update on tuberous sclerosis complex‐associated neuropsychiatric disorders (TAND) Open

Petrus J. de Vries, Lucy Wilde, Magdalena C. de Vries, Romina Moavero, Deborah A. Pearson , et al. · 2018

Tuberous sclerosis complex (TSC) is associated with a wide range of behavioral, psychiatric, intellectual, academic, neuropsychological, and psychosocial difficulties, which are often underdiagnosed and undertreated. Here, we present a cli…

Utility of the Autism Observation Scale for Infants in Early Identification of Autism in Tuberous Sclerosis Complex Open

Jamie K. Capal, Paul S. Horn, Donna S. Murray, Anna W. Byars, Nicole Bing , et al. · 2017

Parent-reported problematic sleep behaviors in children with comorbid autism spectrum disorder and attention-deficit/hyperactivity disorder Open

Katharine C. Reynolds, Michelle A. Patriquin, Candice A. Alfano, Katherine A. Loveland, Deborah A. Pearson · 2017

Influence of seizures on early development in tuberous sclerosis complex Open

Jamie K. Capal, Beatriz Bernardino-Cuesta, Paul S. Horn, Donna S. Murray, Anna W. Byars , et al. · 2017

The diagnosis of autism and autism spectrum disorder in low- and middle-income countries: Experience from Jamaica Open

Maureen Samms‐Vaughan, Mohammad H. Rahbar, Aisha S. Dickerson, Katherine A. Loveland, Manouchehr Hessabi , et al. · 2017

The administration requirements of the Autism Diagnostic Observation Schedule and the Autism Diagnostic Interview–Revised, widely used in high-income countries, make them less feasible for diagnosis of autism spectrum disorder in low- and …

ADHD severity as it relates to comorbid psychiatric symptomatology in children with Autism Spectrum Disorders (ASD) Open

Rosleen Mansour, Allison T. Dovi, David M. Lane, Katherine A. Loveland, Deborah A. Pearson · 2016

Stimulant Medications and Cognition, Behavior and Quality of Life in Children and Youth with HIV Open

Patricia A. Sirois, Lisa Aaron, Grace Montepiedra, Deborah A. Pearson, Suad Kapetanovic , et al. · 2015

The results suggest expectations for behavioral improvement may not align well with long-term effects of stimulant prescription use on behavior and QOL in children with HIV. Further research is necessary to determine if there are subsets o…

Autism spectrum disorder prevalence and proximity to industrial facilities releasing arsenic, lead or mercury Open

Aisha S. Dickerson, Mohammad H. Rahbar, Inkyu Han, Amanda V. Bakian, Deborah A. Bilder , et al. · 2015

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