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...
Brain functional connectivity correlates of autism diagnosis and familial liability in 24-month-olds [0.03%]
两岁婴儿自闭症诊断及家族史的脑功能连接特征研究
John R Pruett Jr,Alexandre A Todorov,Zoë W Hawks et al.
John R Pruett Jr et al.
Background: fcMRI correlates of autism spectrum disorder (ASD) diagnosis and familial liability were studied in 24-month-olds at high (older affected sibling) and low familial likelihood for ASD. ...
Identifying compound heterozygous variants in the EEFSEC gene linked to progressive cerebellar atrophy [0.03%]
EEFSEC基因复合杂合变异在进行性小脑萎缩中的鉴定
Zhen Liu,Mei He,Xuan Luo et al.
Zhen Liu et al.
Selenium, an essential micronutrient integrated into selenoproteins as selenocysteine, is fundamental to human health. These selenoproteins are vital for several physiological functions, including maintaining redox balance, safeguarding DNA...
Charting the future: current and future directions in translational research for individuals with Down syndrome [0.03%]
绘制未来：唐氏综合症个体转化研究的现状与未来方向
Katherine A Waugh,Heather M Wilkins,Keith P Smith et al.
Katherine A Waugh et al.
The most common genetic cause of intellectual and developmental disability is trisomy of human chromosome 21 (trisomy 21) or Down syndrome. Relative to the general population, individuals with Down syndrome heterogeneously experience atypic...
Novel ANKRD17 variants implicate synaptic and mitochondrial disruptions in intellectual disability and autism spectrum disorder [0.03%]
新型ANKRD17变异体暗示智力障碍和自闭症光谱障碍中的突触和线粒体紊乱
Dan Xia,Yuanyuan Xu,Zhanwen He et al.
Dan Xia et al.
ANKRD17 has recently been implicated in intellectual disability (ID) and autism spectrum disorder (ASD); however, the underlying molecular mechanisms remain unclear. Using trio whole-exome sequencing (Trio-WES) and chromosomal microarray an...