Diffusivity alterations related to cognitive performance and phenylalanine levels in early-treated adults with phenylketonuria [0.03%]
早期治疗的苯酮尿症成人认知表现和苯丙氨酸水平相关的扩散张量改变
Jèssica Pardo,Clara Capdevila-Lacasa,Bàrbara Segura et al.
Jèssica Pardo et al.
Background: Altered white matter (WM) is consistently reported in patients with phenylketonuria (PKU). However, the knowledge about WM microstructural integrity in early-treated adults with classical PKU and its relations...
Isabelle Dufour,Yohann Chiu,Sébastien Brodeur et al.
Isabelle Dufour et al.
Background: This study explored Trajectories of Diagnoses (TDs) preceding a first diagnosis of autism in adulthood. Methods: This retro...
Common and rare variant analyses implicate late-infancy cerebellar development and immune genes in ADHD [0.03%]
常见变异和罕见变异分析揭示了注意力缺陷多动障碍中晚婴儿期小脑发育和免疫基因的作用
Yuanxin Zhong,Larry W Baum,Justin D Tubbs et al.
Yuanxin Zhong et al.
Objective: Attention-deficit hyperactivity disorder (ADHD) is a common neuropsychiatric disorder with a significant genetic component. The latest genome-wide association study (GWAS) meta-analysis of ADHD identified 27 wh...
Developmental milestones and cognitive trajectories in school-aged children with 16p11.2 deletion [0.03%]
染色体16p11.2缺失患儿学龄期发育里程碑及认知轨迹特点
Jente Verbesselt,Jeroen Breckpot,Inge Zink et al.
Jente Verbesselt et al.
Background: 16p11.2 deletion syndrome (16p11.2DS) is a recurrent CNV that occurs de novo in approximately 70% of cases and confers risk for neurodevelopmental disorders, including intellectual disability (ID) and autism s...
Enhancing the discriminatory power of polygenic scores for ADHD and autism in clinical and non-clinical samples [0.03%]
提高注意力缺陷多动障碍和自闭症的多基因得分在临床样本与非临床样本中的鉴别能力
James J Li,Quanfa He,Stephen Dorn et al.
James J Li et al.
Background: Polygenic scores (PGS) are widely used in psychiatric genetic associations studies due to their predictive power for focal outcomes. However, they lack discriminatory power, in part due to the high degree of g...
Neural excitation/inhibition imbalance and neurodevelopmental pathology in human copy number variant syndromes: a systematic review [0.03%]
人类拷贝数变异综合征中神经兴奋/抑制失衡与神经发育病理的系统性综述
Amy L Sylvester,Eva Hensenne,Dimo Ivanov et al.
Amy L Sylvester et al.
Cumulative evidence suggests neurodevelopmental disorders are closely related. The risk of these disorders is increased by a series of copy number variant syndromes - phenotypically heterogeneous genetic disorders, present in a minority of ...
Acceptability and safety of a probiotic beverage supplementation (Bio-K +) and feasibility of the proposed protocol in children with a diagnosis of autism spectrum disorder [0.03%]
儿童自闭症谱系障碍诊断的活性益生菌饮品补充（Bio-k+）及其方案可行性的接受性和安全性研究
Ghizlane Gaougaou,Riham Zahra,Sophia Morel et al.
Ghizlane Gaougaou et al.
Background: Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders defined by stereotyped behavior and challenges in social communication and social interaction. ASD is associated with various comorbidi...
Remote EEG acquisition in Angelman syndrome using PANDABox-EEG [0.03%]
使用PANDABox-EEG进行Angelman综合征的远程EEG采集
Kimberly Gálvez-Ortega,Roslyn Harold,Wei Siong Neo et al.
Kimberly Gálvez-Ortega et al.
Objective: We describe the development and validation of PANDABox-EEG, a novel protocol for remote EEG assessment with no on-site technician, tailored for Angelman syndrome (AS). We argue that this protocol is reliable, v...
Contribution of families using the GenIDA database to the description of MED13L syndrome and literature review [0.03%]
家系贡献GenIDA数据库对MED13L综合征的描述及文献回顾
Roseline Caumes,Pauline Burger,Jean-Louis Mandel et al.
Roseline Caumes et al.
The GenIDA project aims to improve the understanding and management of rare genetic forms of intellectual disability by fostering collaboration among patients, caregivers, healthcare professionals, and research professionals. Clinical data ...
Acute administration of lovastatin had no pronounced effect on motor abilities, motor coordination, gait nor simple cognition in a mouse model of Angelman syndrome [0.03%]
洛伐他汀急性给药对安格曼综合征小鼠模型运动能力、运动协调性、步态或简单认知无明显影响
Timothy A Fenton,Stela P Petkova,Anna Adhikari et al.
Timothy A Fenton et al.
Translational research is needed to discover pharmacological targets and treatments for the diagnostic behavioral domains of neurodevelopmental disorders (NDDs), including autism spectrum disorders (ASDs) and intellectual disabilities (IDs)...