Sub-groups of spoken language and broader communication skills in a large heterogenous cohort of minimally verbal school-age children: evidence of discrepant profiles [0.03%]
来自一个大型异质性学龄期儿童最小言语群体的口语子群体和更广泛的交流技能：证据表明存在不同的特征模式
Jo Saul,Mollie Cooke,Supipi Munaweera et al.
Jo Saul et al.
Serum and cerebral folate are normal in down syndrome regression disorder [0.03%]
Down综合征 Regression障碍患者的血清和脑部叶酸水平正常
Jonathan D Santoro,Mackenzie Silverman,Lilia Kazerooni et al.
Jonathan D Santoro et al.
Background: Neuropsychiatric regression in individuals with Down syndrome (DS), termed Down Syndrome Regression Disorder (DSRD), has been reported to occur in the 2nd and 3rd decade of life. Symptoms of DSRD include acute...
Assessing the psychometric properties of the Autism Diagnostic Observation Schedule - Generic (ADOS-G) in a clinical setting in the Chinese mainland [0.03%]
中国大陆地区自闭症诊断观察量表-通用（ADOS-G）的临床应用及信效度研究
Wuxia Enid Bai,Elinda Ai Lim Lee,Bahareh Afsharnejad et al.
Wuxia Enid Bai et al.
Risk of hospitalization and death among autistic young people in England during the Covid-19 pandemic [0.03%]
英国自闭症青少年在新冠疫情期间的住院和死亡风险
Brigid Saoirse Kennedy,Elizabeth Weir,Matthew C Fysh et al.
Brigid Saoirse Kennedy et al.
Resting state aperiodic and periodic EEG activity in preschool-aged autistic children: differences from neurotypical peers and links to language skills [0.03%]
学龄前自闭症儿童静息态脑电活动的非周期性和周期性特征及其与语言技能的关系
Yanru Chen,Meagan Tsou,Charles A Nelson et al.
Yanru Chen et al.
Loss of the Mecp2 gene in parvalbumin interneurons leads to an inhibitory deficit in the amygdala and affects its functional connectivity [0.03%]
帕VA型中间神经元中MECP2基因丢失会导致杏仁体中的抑制缺陷并影响其功能连接性
Maj Liiwand,Joni Haikonen,Bojana Kokinovic et al.
Maj Liiwand et al.
Background: The MECP2 gene is located on the X chromosome and encodes a methyl-CpG-binding protein 2 involved in transcriptional regulation. Loss-of-function mutations in the MECP2 gene lead to Rett syndrome, a severe neu...
Early developmental trajectory phenotypes for risk stratification of autism spectrum disorder in very preterm infants: a machine learning approach [0.03%]
机器学习方法在极早产婴儿自闭症谱系障碍风险分层中的早期发育表型研究
Li-Wen Chen,Yi-Tien Li,Chi-Hsiang Chu et al.
Li-Wen Chen et al.
Rebecca R Bell,Hannah R Thomas,Jenny R Saffran et al.
Rebecca R Bell et al.
Dim light at night disrupts the sleep-wake cycle and exacerbates abnormal EEG activity in Cntnap2 knockout mice: implications for autism spectrum disorders [0.03%]
夜间弱光干扰睡眠觉醒周期并加重Cntnap2基因敲除小鼠异常脑电活动：对自闭症的启示
Yumeng Wang,Ketema N Paul,Gene D Block et al.
Yumeng Wang et al.
Background: Epilepsy is a common comorbidity in individuals with autism spectrum disorders (ASDs). Many patients with epilepsy as well as ASD experience disruptions in their sleep-wake cycle and daily fluctuations in symp...
Atypical GNAO1 variants in severe childhood speech disorders: clinical, genetic, and molecular insights [0.03%]
GNAO1变异与儿童严重言语障碍的临床、遗传及分子特征分析
Yonika A Larasati,Moritz Thiel,Ainara Salazar-Villacorta et al.
Yonika A Larasati et al.
Background: The etiology of severe childhood speech disorders, including childhood apraxia of speech (CAS), is currently understood as genetically heterogeneous, with over 40 distinct monogenic conditions reported to date...