Results 41 to 50 of about 585,856 (303)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Pharmacological treatment in autism: a proposal for guidelines on common co-occurring psychiatric symptoms

BMC Medicine
Background The prevalence of autism spectrum disorder (ASD) has surged, with an estimated 1 in 36 eight-year-olds in the United States meeting criteria for ASD in 2020.
Mariah A. Manter, Kirstin B. Birtwell, James Bath, Nora D. B. Friedman, Christopher J. Keary, Ann M. Neumeyer, Michelle L. Palumbo, Robyn P. Thom, Emily Stonestreet, Hannah Brooks, Kelly Dakin, Jacob M. Hooker, Christopher J. McDougle   +12 more
doaj   +1 more source

The Autism Spectrum Disorder Evaluative Education Model

SAGE Open, 2014
Evaluating educational programs and interventions is generally considered a normal part of curriculum development and improvement, and published findings are readily accessible through peer-reviewed journals. Recently, however, researchers and practicing
Debra Costley, Trevor Clark, Susan Bruck
doaj   +1 more source

A Qualitative Study of the Effects of the University of Arkansas Autism Support Program [PDF]

, 2017
Individuals who have been diagnosed with autism spectrum disorder are often united by the following characteristics: difficulty communicating and interacting with others, inhibited ability to function socially, difficulty functioning academically or at ...
Post, Jessica
core   +2 more sources

Prenatal Neurogenesis in Autism Spectrum Disorders. [PDF]

, 2016
An ever-increasing body of literature describes compelling evidence that a subset of young children on the autism spectrum show abnormal cerebral growth trajectories.
Kaushik, Gaurav, Zarbalis, Konstantinos S   +1 more
core   +1 more source

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang, Brian S. Gloss, Jessica P. Hayes, Andrew J. A. Holland, Manoj P. Menezes, Joceline A. Branson, Shekeeb S. Mohammad, Jingya J. Yan, Shrujna Patel, Velda X. Han, Russell C. Dale   +10 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

Audit of outcomes following a community‐based early intensive behaviour intervention program for children with autism in Australia

Australian Journal of Psychology, 2018
Objective Research studies have shown that early intensive behaviour intervention is an effective treatment for children with autism spectrum disorder (ASD).
Sarah Wood, Mary P. Christian, Amanda Sampson   +2 more
doaj   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +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