Visual feedback and motor memory contributions to sustained motor control deficits in autism spectrum disorder across childhood and into adulthood [0.03%]
视觉反馈和运动记忆在自闭症谱系障碍儿童及成人持续性运动控制缺陷中的作用
Robin L Shafer,James Bartolotti,Abigail Driggers et al.
Robin L Shafer et al.
Background: Autistic individuals show deficits in sustained fine motor control which are associated with an over-reliance on visual feedback. Motor memory deficits also have been reported during sustained fine motor contr...
Protein-truncating variants and deletions of SHANK2 are associated with autism spectrum disorder and other neurodevelopmental concerns [0.03%]
SHANK2蛋白截短变异与自闭症及相关神经发育障碍相关联
Hailey Silver,Rori Greenberg,Paige M Siper et al.
Hailey Silver et al.
Background: SHANK2 disorder is a rare neurodevelopmental disorder caused by a deletion or pathogenic sequence variant of the SHANK2 gene and is associated with autism spectrum disorder (ASD), intellectual disability (ID),...
Automated extraction of functional biomarkers of verbal and ambulatory ability from multi-institutional clinical notes using large language models [0.03%]
利用大型语言模型从多机构临床记录中自动提取言语和步行能力的功能生物标志物
Levi Kaster,Ethan Hillis,Inez Y Oh et al.
Levi Kaster et al.
Background: Functional biomarkers in neurodevelopmental disorders, such as verbal and ambulatory abilities, are essential for clinical care and research activities. Treatment planning, intervention monitoring, and identif...
Functional connectivity between the visual and salience networks and autistic social features at school-age [0.03%]
学龄期视觉网络和注意网络的功能连接与自闭症谱系的社会行为特征之间的关系
Jessica B Girault,Tomoyuki Nishino,Muhamed Talović et al.
Jessica B Girault et al.
Background: Autism spectrum disorder (ASD) is highly heritable and phenotypically variable. Neuroimaging markers reflecting variation in behavior will provide insights into circuitry subserving core features. We examined ...
Transcriptomic profiling of unmethylated full mutation carriers implicates TET3 in FMR1 CGG repeat expansion methylation dynamics in fragile X syndrome [0.03%]
转录组谱分析未甲基化全突变携带者表明TET3在脆性X综合征FMR1 CGG重复扩增甲基化动力学中起作用
Grace Farmiloe,Veronika Bejczy,Elisabetta Tabolacci et al.
Grace Farmiloe et al.
Background: Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by the expansion of a CGG repeat in the 5'UTR of the FMR1 (fragile X messenger ribonucleoprotein 1) gene. Healthy individuals possess a repeat 3...
Psychopharmacology in children with genetic disorders of epigenetic and chromatin regulation [0.03%]
儿童表观遗传和染色质调节基因组障碍的心理药理学研究进展
Sophia Lenz,Ajilan Sivaloganathan,Sarah J Goodman et al.
Sophia Lenz et al.
Objective: Hundreds of rare genetic variants associated with autism or intellectual disability have been identified, and many impact genes known to have a primary epigenetic/chromatin regulatory function. The objective of...
Eleanor F Jackson,Timothy B Riley,Paul G Overton
Eleanor F Jackson
It is well accepted that attention deficit hyperactivity disorder (ADHD) is in part driven by dysfunction in the monoaminergic neurotransmitter system, but both the extent of dysfunction and possible therapeutic avenues presented by seroton...
Behavioral and psychological symptoms of dementia and Alzheimer's disease progression in Down syndrome [0.03%]
唐氏综合征患者的行为和心理症状与阿尔茨海默病进展的关系
Melissa R Jenkins,Jamie C Peven,Lauren Kubic et al.
Melissa R Jenkins et al.
Background: Adults with Down syndrome (DS) have a 90% lifetime risk for Alzheimer's disease (AD), with neurobiological pathology present decades prior to dementia onset. The profile and timing of cognitive decline in DS i...
Brain structure in triple X syndrome: regional gray matter volume and cortical thickness in adult women with 47,XXX karyotype [0.03%]
Triple X综合征的脑结构：47,XXX核型成年女性的大脑灰质体积和皮层厚度
Gregor Domes,Marie-Anne Croyé,Petra Freilinger et al.
Gregor Domes et al.
Background: Changes in the brain structure of women with Triple X syndrome (karyotype 47,XXX) have been described in a few studies to date, including reduced total brain volume and regional reductions in gray substance in...
Disrupted fetal carbohydrate metabolism in children with autism spectrum disorder [0.03%]
自闭症儿童胎儿期碳水化合物代谢紊乱
Serena B Gumusoglu,Brandon M Schickling,Donna A Santillan et al.
Serena B Gumusoglu et al.
Background: Despite the power and promise of early detection and treatment in autism spectrum disorder (ASD), early-life biomarkers are limited. An early-life risk biosignature would advance the field's understanding of A...