Siddharth S Gupta,Katharine E Joslyn,Kieran D McKenney et al.
Siddharth S Gupta et al.
Sturge-Weber Syndrome (SWS) is a congenital neurovascular disorder caused by a somatic mosaic mutation in the R183Q GNAQ gene and characterized by capillary-venous malformations of the brain, skin, and eyes. Clinical manifestations include ...
An epigenome-wide association study in the case-control study to explore early development identifies differential DNA methylation near ZFP57 as associated with autistic traits [0.03%]
自闭症特征表型的全甲基化组关联研究鉴定出ZFP57附近差异DNA甲基化与自闭症早期发育相关性
Ellen M Howerton,Valerie Morrill,Rose Schrott et al.
Ellen M Howerton et al.
Background: Quantitative measures of autism spectrum disorder (ASD)-related traits can provide insight into trait presentation across the population. Previous studies have identified epigenomic variation associated with A...
Challenges with shifting, regardless of disengagement: attention mechanisms and eye movements in Williams syndrome [0.03%]
威廉姆斯综合征中的注意力机制和眼动研究：不管脱离与否的转换困难问题
Astrid Hallman,Charlotte Willfors,Christine Fawcett et al.
Astrid Hallman et al.
Objective diagnosis of attention-deficit/hyperactivity disorder by using load cell movement analysis under a smart chair in a simulated classroom: influence of sex and age [0.03%]
利用智能椅子负载细胞运动分析在模拟教室中客观诊断注意缺陷多动障碍：性别和年龄的影响
Chen-Sen Ouyang,Rong-Ching Wu,Yi-Hung Chiu et al.
Chen-Sen Ouyang et al.
Background: Attention-deficit/hyperactivity disorder (ADHD) is a common neurodevelopmental disorder in children, typically characterized by persistent patterns of inattention or hyperactivity-impulsivity. Its diagnosis re...
Current situation and influencing factors of Chinese children's diagnosis delay in autism [0.03%]
中国儿童自闭症就诊延误的现状及影响因素分析
Feng-Lei Zhu,Yue Ji,Lu Wang et al.
Feng-Lei Zhu et al.
Background: Although experienced clinicians are capable of diagnosing autism in children before they reach the age of 2, the average age of diagnosis reported internationally is between 4 and 5 years, indicating a signifi...
Autism-like phenotype across the lifespan of Shank3B-mutant mice of both sexes [0.03%]
Shank3B突变小鼠寿命各阶段两性均表现出自闭症类似表型
Jakub Szabó,Johan Filo,Rebeka Démuthová et al.
Jakub Szabó et al.
Background: High heritability (80-90%) of the autism spectrum disorder (ASD) and sex-biased incidence (3-4 times more boys than girls) suggest the roles of genetic predisposition and sex in the etiopathogenesis of the dis...
Pupil responses to social stimuli are associated with adaptive behaviors across the first 24 months of life [0.03%]
瞳孔对社会刺激的反应与生命最初24个月中的适应性行为有关
Rebecca Grzadzinski,Raymond S Carpenter rd,Josh Rutsohn et al.
Rebecca Grzadzinski et al.
Background: Pupil changes in response to well-controlled stimuli can be used to understand processes that regulate attention, learning, and arousal. This study investigates whether pupil dynamics to s...
Patient reported outcomes used in clinical trials and core outcome sets for individuals with genetic intellectual disability: a scoping review [0.03%]
遗传性智力障碍个体临床试验中使用的患者报告结果和核心结局集的范围综述
Nadia Y van Silfhout,Maud M van Muilekom,Clara D van Karnebeek et al.
Nadia Y van Silfhout et al.
Background: The impact of genetic intellectual disability (GID) on daily life is significant. To better understand the impact of GID, it is essential to measure relevant patient reported outcomes (PROs). The aim of this s...
Distinct early development trajectories in Nf1± and Tsc2± mouse models of autism [0.03%]
Nf1±和Tsc2±自闭症小鼠模型中截然不同的早期发育轨迹
Helena Ferreira,Sofia Santos,João Martins et al.
Helena Ferreira et al.
Background: Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by deficits in social communication and interaction, and repetitive behaviors. Males are three times more likely to be diagnosed w...
Elevated autistic traits and social anxiety, and reduced empathy in adult women with triple X syndrome [0.03%]
Triple X综合征成人女性的自闭症特征、社交焦虑以及共情能力的研究
Marie-Anne Croyé,Petra Freilinger,Hendrik Jürgenlimke et al.
Marie-Anne Croyé et al.
Background: Triple X syndrome (TXS, 47,XXX) is a sex chromosome aneuploidy affecting females. The condition is associated with cognitive, emotional, and social challenges. While prior research has primarily focused on chi...