Jessica Martin,Alkistis Mavrogalou-Foti,Josefine Eck et al.
Jessica Martin et al.
Background: Pathogenic CASK variants are associated with neurodevelopmental disorders of variable severity including X-linked intellectual disability (XLID) and microcephaly with pontocerebellar hypoplasia (MICPCH). Altho...
Courtship and distress ultrasonic vocalizations are altered in a mouse model of Angelman syndrome [0.03%]
天使人综合症小鼠模型中求偶和压力超声波发声异常
Caleigh D Guoynes,Grace Pavalko,Michael S Sidorov
Caleigh D Guoynes
Background: Angelman syndrome (AS) is a single-gene neurodevelopmental disorder caused by loss of function of the maternal copy of the UBE3A gene. Nearly all individuals with AS lack speech, resulting in major impacts on ...
The association between infant EEG aperiodic exponent and the trajectory of restricted and repetitive behaviors for toddlers with and without autism [0.03%]
婴儿脑电图非周期指数与自闭症幼儿刻板重复行为的关系
Haerin Chung,Alex Job Said,Helen Tager-Flusberg et al.
Haerin Chung et al.
Background: Restricted and repetitive behaviors (RRB) are core features of autism but are also observed in typical development. Our understanding of the neural underpinnings of RRBs is limited. Given that excitation-inhib...
Patient reported outcomes that matter to individuals with (genetic) intellectual disabilities: a qualitative study [0.03%]
一份关于个体化遗传智力障碍患者重要报告结果的定性研究
Nadia Y van Silfhout,Maud M van Muilekom,Clara D van Karnebeek et al.
Nadia Y van Silfhout et al.
Background: To improve the quality of care and the impact of interventions for individuals with (genetic) intellectual disabilities ((G)ID), it is essential to identify and measure relevant patient reported outcomes (PROs...
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...