Results 61 to 70 of about 599,916 (304)

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Elevated fetal steroidogenic activity in autism [PDF]

, 2015
Autism affects males more than females, giving rise to the idea that the influence of steroid hormones on early fetal brain development may be one important early biological risk factor.
Cohen, A. S., Melgaard, L, Melgaard, L., M W Abdallah, Abdallah, M. W., D M Hougaard, Hougaard, D M, S Baron-Cohen, Baron-Cohen, S., M V Lombardo, B Auyeung, Auyeung, B., Ruta, L., B Chakrabarti, L Melgaard, Auyeung, B; id_orcid, Chakrabarti, Bhisma, Lombardo, M V, Nørgaard-Pedersen, B., B Nørgaard-Pedersen, A S Cohen, Abdallah, M W, Nørgaard-Pedersen, B, Ruta, L, Lombardo, M. V., Baron-Cohen, S, Chakrabarti, B, L Ruta, Cohen, A S, Hougaard, D. M.   +29 more
core   +1 more source

Electroencephalographic Normalization as a Biomarker of Clinical Recovery in Down Syndrome Regression Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Down syndrome regression disorder is a syndrome characterized by subacute loss of cognitive, behavioral, and functional abilities in individuals with Down syndrome. Electroencephalography abnormalities are frequently observed during evaluation, but it remains unclear whether these findings represent a dynamic marker of disease ...
Jonathan D. Santoro, Mackenzie Silverman, Maeve C. Lucas, Mariam M. Yousuf, Samuel T. Otey, Stella V. Gray, Brittany Jordan, Madeline D. Kahan, Latanya D. Agurs, Michelle Van Hirtum Das, Deborah Holder, Devin King, Eileen A. Quinn, Ryan Kammeyer, Michael S. Rafii   +14 more
wiley   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Building capacity for inclusive informal STEM learning opportunities for autistic learners

International Journal of STEM Education
Background Research is needed to better understand the specific challenges for autistic learners in informal STEM learning settings. This study aimed to increase inclusion in STEM museums, with a larger goal of increasing the impact (i.e., learning and ...
Nicole L. Matthews, Hannah Honda, Melissa M. Mitchell, Ashley Johns, Sarah L. Kiefer, Megan Mann, Kelsey Schimmel, Alexis Boglio, Shreyas Hallur, Judith Koke, Monae Verbeke, Jeremy Babendure, Christopher J. Smith   +12 more
doaj   +1 more source

Augmentative and alternative communication for children with autism spectrum disorder: An evidence-based evaluation of the Language Acquisition through Motor Planning (LAMP) programme

Cogent Education, 2015
Children diagnosed with autism spectrum disorder often have restricted verbal communication. For children who do not use functional speech, augmentative and alternative communication (AAC) devices can be an important support.
Mary-Ann Naguib Bedwani, Susan Bruck, Debra Costley   +2 more
doaj   +1 more source

Conditional Pten knockout in parvalbumin- or somatostatin-positive neurons sufficiently leads to autism-related behavioral phenotypes

Molecular Brain, 2021
Disrupted GABAergic neurons have been extensively described in brain tissues from individuals with autism spectrum disorder (ASD) and animal models for ASD.
Sangyep Shin, Andrea Santi, Shiyong Huang   +2 more
doaj   +1 more source

Annual Research Review: Looking back to look forward - changes in the concept of autism and implications for future research.

Journal of Child Psychology and Psychiatry and Allied Disciplines, 2020
The concept of autism is a significant contribution from child psychiatry that has entered wider culture and public consciousness, and has evolved significantly over the last four decades.
F. Happé, U. Frith
semanticscholar   +1 more source

Factors Associated With the Rising Trend in Self‐Reported Cognitive Disability Among U.S. Adults Aged 18–39 From 2013–2024

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Building on our prior Behavioral Risk Factor Surveillance System analysis identifying adults aged 18–39 as the primary driver of the national increase in self‐reported cognitive disability, we examined factors associated with this rise using 2013–2024 U.S. BRFSS data. Methods We analyzed U.S.
Adam de Havenon, Ka‐Ho Wong, Mirriam Mananah, Christopher D. Anderson, Ada Fenick, Amy Arnsten, Arman Fesharaki‐Zadeh, James C. McPartland, Mary L. Adams, Kevin N. Sheth   +9 more
wiley   +1 more source

Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood‐onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift ...
Melisa Kilic, Petr Dusek, Ibrahim Kamaci, Bahar Gulmez, Gul Yalcin Cakmakli, Ersin Tan, Sibel Ugur Iseri, Zuhal Yapici   +7 more
wiley   +1 more source