Results 51 to 60 of about 317,154 (292)

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, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +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, Saeid Sadeghi, Samad Rashidiyan   +2 more
doaj   +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

The Role of Psychological Resilience in Reducing Stress and its Impact on Adaptation for Families of Children with Autism Spectrum Disorder

Zanco Journal of Humanity Sciences
The 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, Israa Naeem Hamdan   +1 more
doaj   +1 more source

Otizm Spektrum Bozukluğu Olan 6 Yaşından Küçük Erkekler Çocuklarda Serum S100B Düzeylerinin Değerlendirilmesi: Psikiyatrik ve Biyokimyasal Perspektif

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, Şahin Bodur, İbrahim Durukan, Ayşe Nihal Eraslan   +3 more
doaj   +1 more source

Temporal and Cell‐Specific Regulation of Synaptic Homeostasis by the Chromatin Remodeler Chd1

Advanced Science, EarlyView.
Chd1, the Drosophila homologue of mammalian CHD2 ‐ a gene linked to autism, epilepsy, and intellectual disability, is required for synaptic homeostatic plasticity. Chd1 in glia is necessary for the rapid induction of synaptic homeostasis, whereas Chd1 in motoneurons, muscle, and glia is critical for long‐term maintenance.
Danielle T. Morency, Tao Cui, Yimei Cai, Chloe Lok, Rachel E. Nokku, Ruoxian Huang, Grace L. Chu, Yumeng Xie, Saleem W. Abu‐Tayeh, Kaikai He, Chengjie Qiu, Junyi Wang, Paxton M. Paganelli, Ting Wang, Gabrielle Williams, Sreejith Nair, Huadong Pei, Dion K. Dickman, Stefano Vicini, Tingting Wang   +19 more
wiley   +1 more source

Enhanced Glycolysis‐Driven Histone H3K18 Lactylation Regulates Epileptogenesis by Modulating the E3 Ubiquitin Ligase COP1

Advanced Science, EarlyView.
Neuronal PKM2‐driven glycolysis generates excess lactate that triggers histone H3K18 lactylation (H3K18la), establishing a pathogenic metabolic‐epigenetic axis in epilepsy. Elevated H3K18la enriches the Cop1 promoter, transcriptionally upregulating the E3 ubiquitin ligase COP1, which subsequently drives proteasomal degradation of GABAARβ2 and impairs ...
Yuan Meng, Yanlin Guo, Liumi Jiang, Jing Luo, Yan Liu, Ziwei Yuan, Pingyang Ke, Ran Duan, Fei Xiao   +8 more
wiley   +1 more source

State of knowledge about autism spectrum disorders among residents of Szczecin - preliminary report

Journal of Education, Health and Sport, 2018
Introduction: Autism spectrum disorders are more often diagnosed. Like any disorder, autism can cause discomfort, even distress to families. Thanks to educational campaigns, more people know what this disorder is related to.
Martyna Maciejewska, Inga Janik, Anna Fabian-Danielewska, Katarzyna Korabiusz, Agata Wawryków, Agnieszka Wilczyńska, Monika Stecko   +6 more
doaj   +3 more sources

A qualitative study of the stress autism mate app among autistic adults: user experiences and effects on stress awareness and coping skills

Frontiers in Psychiatry
IntroductionAutistic adults often face unique challenges in stress management. Conventional tools may not cater to their distinct needs. The Stress Autism Mate (SAM) app was developed to support stress recognition and promote active coping strategies ...
Kirsten Hoeberichts, Kirsten Hoeberichts, Kirsten Hoeberichts, Yvette Roke, Yvette Roke, Frank Damen, Irene Niks, Peter N. Van Harten, Peter N. Van Harten   +8 more
doaj   +1 more source

A predictive model for paediatric autism screening

Health Informatics Journal, 2020
Autism spectrum disorder is an umbrella term for a group of neurodevelopmental disorders that is associated with impairments to social interaction, communication, and behaviour. Typically, autism spectrum disorder is first detected with a screening tool (
Benjamin Wingfield, Shane Miller, Pratheepan Yogarajah, Dermot Kerr, Bryan Gardiner, Sudarshi Seneviratne, Pradeepa Samarasinghe, Sonya Coleman   +7 more
doaj   +1 more source