MED13L-related disorder characterized by severe motor speech impairment [0.03%]
以严重运动性构音障碍为特征的 MED13L 相关疾病
Marissa W Mitchel,Stefanie Turner,Lauren K Walsh et al.
Marissa W Mitchel et al.
Background: MED13L-related disorder is associated with intellectual disability, motor delay, and speech deficits. Previous studies have focused on broad clinical descriptions of individuals, but limited information regard...
Preliminary perspectives on gene therapy in fragile X syndrome: a caregiver view [0.03%]
脆性X染色体综合症基因治疗初步观点：从监护人的视角看
Sarah E A Eley,Sydni Weissgold,Andrew C Stanfield
Sarah E A Eley
Background: There have been increasing numbers of clinical trials of medications for fragile X syndrome (FXS) in recent years, many targeted at proposed underlying cellular or circuit based mechanisms. As yet none of thes...
Face perception, attention, and memory as predictors of social change in autistic children [0.03%]
自闭症儿童面部感知、注意力和记忆作为社会变化的预测指标
Sara Jane Webb,Brian Kwan,Raphael Bernier et al.
Sara Jane Webb et al.
Objective: Social perception and attention markers have been identified that, on average, differentiate autistic from non-autistic children. However, little is known about how these markers predict behavior over time at b...
eIF5A and hypusination-related disorders: literature review and case report of DOHH-related encephalopathy [0.03%]
EIF5A及羟基化异常相关的疾病：文献综述与DOHH相关性脑病病例报告
Álvaro Beltrán-Corbellini,Adrián Valls-Carbó,Rafael Toledano et al.
Álvaro Beltrán-Corbellini et al.
Background: Eukaryotic initiation factor 5 A (eIF5A) and hypusination-related disorders (eIF5A-HRD) are recently described diseases caused by pathogenic heterozygous variants in the translation factor EIF5A or biallelic v...
Learning impairments in Fmr1-/- mice on an audio-visual temporal pattern discrimination task [0.03%]
Fmr1基因缺失小鼠在音视频时间模式辨别学习任务中的缺陷
William Mol,Sam Post,Megan Lee et al.
William Mol et al.
Estimating time and making predictions is integral to our experience of the world. Given the importance of timing to most behaviors, disruptions in temporal processing and timed performance are reported in a number of neuropsychiatric disor...
Phenotypic variation in neural sensory processing by deletion size, age, and sex in Phelan-McDermid syndrome [0.03%]
普林-麦德尔斯综合症中因性别的缺失大小和年龄导致的神经感觉处理表型变异
Melody Reese Smith,Elizabeth Berry-Kravis,Andrew Thaliath et al.
Melody Reese Smith et al.
Background: Phelan-McDermid Syndrome (PMS) is a rare genetic condition characterized by deletion or mutation of region 22q13.3, which includes the SHANK3 gene. Clinical descriptions of this population include severely imp...
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...