Caregiver-reported relevance of the BRIEF-2 in youth with Down syndrome: an initial content validity study [0.03%]
下陷精神儿童照顾者报告的BRIEF-2的相关性：初步内容有效性研究
Natasha N Ludwig,Mary Godfrey,Rebekah Bosley et al.
Natasha N Ludwig et al.
Background: Establishing evidence of content validity, or how well a measure reflects the intended outcome, is essential for developing or selecting assessment tools that support individualized care and research in clinic...
Expanding clinical variability in FBXW7-related neurodevelopmental disorder: a multicenter case series [0.03%]
FBXW7 相关神经发育障碍的临床变异扩展：多中心病例系列报告
Salvatore Savasta,Francesco Fabrizio Comisi,Giovanni Battista Dell&#x;Isola et al.
Salvatore Savasta et al.
Background: Heterozygous variants in FBXW7 have recently been recognized as a cause of a rare neurodevelopmental disorder with variable developmental delay, neurological manifestations, and multisystem involvement. The br...
Processing of emotional faces has unique functional and cytoarchitectural associations in those with an autism spectrum diagnosis [0.03%]
带有自闭症谱系诊断的人处理情绪面孔具有独特的功能和细胞结构关联性
Zachary P Christensen,Edward G Freedman,John J Foxe
Zachary P Christensen
Those with an autism spectrum diagnosis (ASD) have been found to process emotional faces differently than other populations. Processing of emotional faces requires engagement of temporal, frontal, occipital, and limbic brain regions. Functi...
X-chromosomal genetic variants and haplotype analysis in male cerebral palsy patients: insights into genetic susceptibility and sex-specific risk [0.03%]
男性脑瘫患者的X染色体遗传变异和单体型分析：对遗传易感性和性别特异性风险的洞察
Yu Su,Yangong Wang,Ye Cheng et al.
Yu Su et al.
Background: Cerebral palsy (CP) is a neurodevelopmental disorder with a significant male predisposition, yet the underlying genetic mechanisms driving this sex-specific risk remain poorly understood. Given the hemizygous ...
Exploring the relationship between auditory processing characteristics and cognition in preschool children with developmental language disorder based on fNIRS [0.03%]
基于fNIRS技术探究发育性语言障碍幼儿听觉加工特点与认知之间的关系
Wenmin Wang,Panting Liu,Bingzi Hao et al.
Wenmin Wang et al.
Background: Auditory processing (AP) is a fundamental function in speech signal processing. The ability to process speech signals in noisy environments is commonly used to assess AP capabilities. Research on the AP charac...
DRP1 mutations associated with EMPF1 encephalopathy perturb the transcriptional profile and maturation of cortical neurons [0.03%]
与EMPF1型脑病相关的DRP1突变会改变皮质神经元的转录组谱和成熟过程
T B Baum,J Costanzo,C Bodnya et al.
T B Baum et al.
With the advent of exome sequencing, a growing number of children are being identified with de novo loss-of-function mutations in the dynamin 1-like (DNM1L) gene, which encodes the large GTPase essential for mitochondrial fission, dynamin-r...
Epilepsy in autism spectrum disorder: examining prevalence and associated factors in a large cross-sectional study [0.03%]
孤独症谱系障碍中的癫痫：一项大规模横断面研究中关于患病率及影响因素的考察
Fouad Alshaban,Éric Fombonne,Iman Ghazal et al.
Fouad Alshaban et al.
Background: Epilepsy and Autism Spectrum Disorder (ASD) frequently co-occur, yet the prevalence and factors associated with epilepsy within autistic individuals remain insufficiently defined. This study aimed to determine...
The prevalence of neurodevelopmental disorders in Smith-Magenis Syndrome: a PRISMA compliant systematic review [0.03%]
史密斯-马格尼斯综合征神经发育障碍的患病率：符合PRISMA规定的系统评价
Pauline Boiroux,Marie-Noëlle Babinet,Gabrielle Chesnoy et al.
Pauline Boiroux et al.
Background: Smith Magenis Syndrome is either due to a deletion in 17p11.2 locus or to a pathogenic variant in RAI1 gene and is associated with a higher risk of neurodevelopmental disorder. We performed a systematic review...
Early developmental trajectories associated with different styles and intensities of ESDM-based community intervention [0.03%]
与不同风格和强度的ESDM社区干预相关的早期发育轨迹
Liliana Ruta,Elisa Leonardi,Cristina Carrozza et al.
Liliana Ruta et al.
Background: The Early Start Denver Model (ESDM) is a naturalistic developmental behavioral intervention (NDBI) widely used to support early development in young autistic children. This study examines early developmental t...
Executive function and implications for the Preterm Behavioral Phenotype in very preterm children at age 9-10 years [0.03%]
早产行为表型的执行功能缺陷及临床意义——9至10岁极低胎龄儿童的研究
Rachel E Lean,Berenice Anaya,Lisa Gorham et al.
Rachel E Lean et al.
Background: Children born very preterm (VPT) have greater executive function (EF) challenges and internalizing, inattention, and social communication-interaction differences (the Preterm Behavioral Phenotype [PBP]) than f...