An integrated clinical approach to children at genetic risk for neurodevelopmental and psychiatric conditions: interdisciplinary collaboration and research infrastructure [0.03%]
遗传性神经发育和精神病理状况高风险儿童的综合临床方法：跨学科协作与研究基础设施
Jane Summers,Danielle Baribeau,Polina Perlman et al.
Jane Summers et al.
Background: A sizeable proportion of pathogenic genetic variants identified in young children tested for congenital differences are associated with neurodevelopmental psychiatric disorders (NPD). In this growing group, a ...
Tz-Yun Jan,Lee-Chin Wong,Chia-Jui Hsu et al.
Tz-Yun Jan et al.
Objective: Rett syndrome (RTT) is characterized by neurological regression. This pioneering study investigated the effect of age on brain volume reduction by analyzing magnetic resonance imaging findings in participants w...
Computer-vision analysis of craniofacial dysmorphology in 22q11.2 deletion syndrome and psychosis spectrum disorders [0.03%]
22q11.2缺失综合征和精神病谱系障碍的颅面形态学异常的计算机视觉分析
David R Roalf,Donna M McDonald-McGinn,Joelle Jee et al.
David R Roalf et al.
Background: Minor physical anomalies (MPAs) are congenital morphological abnormalities linked to disruptions of fetal development. MPAs are common in 22q11.2 deletion syndrome (22q11DS) and psychosis spectrum disorders (P...
Does a high threshold of sensory responsiveness affect the development of pretend play in children on the autism spectrum? [0.03%]
感觉反应阈限过高对孤独症儿童象征性游戏发展的影响？
Karolina Krzysztofik
Karolina Krzysztofik
Background: Among the current avenues of research into the origins and development of the autism spectrum, those concerning atypical levels of sensory responsiveness are gaining increasing relevance. Researchers note the ...
Volumetric brain reductions in adult patients with phenylketonuria and their relationship with blood phenylalanine levels [0.03%]
苯酮尿症成人患者的脑体积减少及其与血苯丙氨酸水平的关系
Jèssica Pardo,Clara Capdevila-Lacasa,Bàrbara Segura et al.
Jèssica Pardo et al.
Background: Continued dietary treatment since early diagnosis through newborn screening programs usually prevents brain-related complications in phenylketonuria (PKU). However, subtle neurocognitive and brain alterations ...
Developmental milestones and daily living skills in individuals with Angelman syndrome [0.03%]
天使人综合症患者的发育指标及日常生活技能
Anjali Sadhwani,Sonya Powers,Anne Wheeler et al.
Anjali Sadhwani et al.
Background: Angelman syndrome (AS) is a neurodevelopmental disorder associated with severe global developmental delay. However, the ages at which different developmental skills are achieved in these individuals remain unc...
Developmental associations between cognition and adaptive behavior in intellectual and developmental disability [0.03%]
智力障碍和发育障碍的认知与适应行为的发展关联性分析研究
Andrew Dakopolos,Emma Condy,Elizabeth Smith et al.
Andrew Dakopolos et al.
Background: Intellectual and developmental disabilities (IDDs) are associated with both cognitive challenges and difficulties in conceptual, social, and practical areas of living, commonly referred to as adaptive behavior...
From wings to whiskers to stem cells: why every model matters in fragile X syndrome research [0.03%]
从翅膀到胡须再到干细胞：为什么每一个模型对于脆性X染色体综合征的研究都至关重要
Soraya O Sandoval,Natasha M Méndez-Albelo,Zhiyan Xu et al.
Soraya O Sandoval et al.
Fragile X syndrome (FXS) is caused by epigenetic silencing of the X-linked fragile X messenger ribonucleoprotein 1 (FMR1) gene located on chromosome Xq27.3, which leads to the loss of its protein product, fragile X messenger ribonucleoprote...
Sleep disturbances are associated with greater healthcare utilization in children with autism spectrum disorder [0.03%]
睡眠障碍与自闭症谱系障碍儿童的医疗利用率增加有关
Shirley Solomon,Leena Elbedour,Gal Meiri et al.
Shirley Solomon et al.
Background: Sleep disturbances are frequently reported in children with autism spectrum disorder (ASD) and are associated with the severity of co-occurring symptoms. This study's aim was to examine the extent of healthcar...
Probing a neural unreliability account of auditory sensory processing atypicalities in Rett Syndrome [0.03%]
探查雷特综合征听觉感觉处理异常的神经不可靠性解释
Tufikameni Brima,Shlomit Beker,Kevin D Prinsloo et al.
Tufikameni Brima et al.
Background: In the search for objective tools to quantify neural function in Rett Syndrome (RTT), which are crucial in the evaluation of therapeutic efficacy in clinical trials, recordings of sensory-perceptual functionin...