Results 31 to 40 of about 110,801 (250)
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 +5 more
wiley +1 more source
Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier +6 more
wiley +1 more source
Frontiers in PsychiatryIntroductionThe mobile health application “Stress Autism Mate” (SAM) was designed to support adults with autism in identifying and managing daily stress.
Kirsten Hoeberichts +5 more
doaj +1 more source
Autism and Developmental Language Impairments, 2017 Background & aims This study compared gesture rate and purpose in participants with Down syndrome and fragile X syndrome, and the impact of autism spectrum disorder symptoms on each syndrome.
Emily Lorang, Audra Sterling,
doaj +1 more source
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 +14 more
wiley +1 more source
Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi +6 more
wiley +1 more source
Zanco Journal of Humanity SciencesThe study focuses on analyzing the challenges facing families of individuals with autism disorder and their psychological resilience. A questionnaire was conducted on a random sample of 120 families in Iraq that include individuals with autism disorder.
Osama Farouk Mustafa +1 more
doaj +1 more source
Executive functions in parents of children with and without autism spectrum disorder [PDF]
روانشناسی و روانپزشکی شناخت, 2019 Introduction: Autism spectrum disorder is a neurodevelopmental disorder that its etiology has not been determined definitively. The studies that have been conducted on the characteristics of relatives of people with ASD have shown that relatives of ...
Bita Shalani +2 more
doaj +1 more source
Advanced Science, EarlyView.The cellular actors of oxytocin signaling are under intense scrutiny. A brain‐wide anatomical and functional analysis in mice and rats reveals widespread expression of oxytocin receptors in astrocytes. These receptors are functionally active and, in the nucleus accumbens, selectively regulate male social affiliation.
Clémence Denis +32 more
wiley +1 more source
Düzce Tıp Fakültesi Dergisi, 2021 Aim: Autism spectrum disorder is a neurodevelopmental disorder. The S100 calcium binding protein B (S100B) is among the markers of astrocyte activation as well as brain damage. Herein, it was aimed to evaluate S100B levels to determine whether there is a
Özge Demircan +3 more
doaj +1 more source