Results 31 to 40 of about 182,432 (262)

Maternal steroid levels and the autistic traits of the mother and infant

Molecular Autism, 2021
Background Prenatal sex steroids have been associated with autism in several clinical and epidemiological studies. It is unclear how this relates to the autistic traits of the mother and how early this can be detected during pregnancy and postnatal ...
A. Tsompanidis, E. Aydin, E. Padaigaitė, G. Richards, C. Allison, G. Hackett, T. Austin, R. Holt, S. Baron-Cohen   +8 more
doaj   +1 more source

Modulation of Homer1 EVH1 domain internal dynamics by putative autism‐associated mutations

FEBS Letters, EarlyView.
The putative autism‐associated M65I and S97L variants of the EVH1 domain of the postsynaptic scaffold protein Homer1 do not exhibit substantial changes in their overall structure or partner binding. Both of them, but especially the M65I variant, show altered internal dynamics relative to the wild‐type domain on the μs‐ms timescale, indicated by the ...
Fanni Farkas, Brigitta Maruzs, Zsófia E. Kálmán, Tomas Klumpler, Gyula Batta, Bálint Péterfia, Zoltán Gáspári   +6 more
wiley   +1 more source

Selective Serotonin Reuptake Inhibitors for the Treatment of Depression in Adults with Down Syndrome: A Preliminary Retrospective Chart Review Study

Brain Sciences, 2021
Background: Depression is a common psychiatric comorbidity in individuals with Down syndrome (DS), particularly adults, with an estimated lifetime prevalence of at least 10%.
Robyn P. Thom, Michelle L. Palumbo, Claire Thompson, Christopher J. McDougle, Caitlin T. Ravichandran   +4 more
doaj   +1 more source

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

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

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

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

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

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